Mutagenetix > Incidental Mutation

Incidental Mutation 'R1785:Pkd1'

196440

Institutional Source

Beutler Lab

Gene Symbol

Pkd1

Ensembl Gene

ENSMUSG00000032855

Gene Name

polycystin 1, transient receptor poteintial channel interacting

Synonyms

PC-1, polycystin-1, PC1

MMRRC Submission

039816-MU

Accession Numbers

Ncbi RefSeq: NM_013630.2; MGI:97603

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1785 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24549834-24596508 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24591099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3558 (V3558A)

Ref Sequence

ENSEMBL: ENSMUSP00000049296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035565] [ENSMUST00000097373] [ENSMUST00000226284] [ENSMUST00000227058] [ENSMUST00000228581]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035565
AA Change: V3558A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855
AA Change: V3558A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LRRNT	32	71	1.61e-8	SMART
LRR_TYP	90	113	2.47e-5	SMART
LRRCT	125	177	3.84e-12	SMART
WSC	177	271	6.93e-34	SMART
PKD	272	355	2.72e-15	SMART
CLECT	406	530	5.72e-20	SMART
low complexity region	545	558	N/A	INTRINSIC
low complexity region	763	788	N/A	INTRINSIC
PKD	930	1008	1.06e-8	SMART
PKD	1015	1119	2.26e-12	SMART
PKD	1122	1205	2.03e-14	SMART
PKD	1208	1288	1.14e-17	SMART
PKD	1290	1373	2.35e-10	SMART
PKD	1374	1459	7.63e-10	SMART
PKD	1464	1541	1.95e-16	SMART
PKD	1544	1625	1.05e-16	SMART
PKD	1631	1714	1.93e-1	SMART
PKD	1716	1798	2.21e-15	SMART
PKD	1799	1882	5.7e-9	SMART
PKD	1884	1964	1.56e-6	SMART
PKD	1968	2056	3.1e-10	SMART
PKD	2057	2140	1.74e-13	SMART
Pfam:REJ	2167	2610	1e-108	PFAM
low complexity region	2697	2706	N/A	INTRINSIC
GPS	3003	3052	1.33e-12	SMART
transmembrane domain	3065	3087	N/A	INTRINSIC
LH2	3110	3224	3.5e-18	SMART
transmembrane domain	3275	3294	N/A	INTRINSIC
transmembrane domain	3314	3336	N/A	INTRINSIC
low complexity region	3357	3378	N/A	INTRINSIC
low complexity region	3479	3492	N/A	INTRINSIC
transmembrane domain	3547	3569	N/A	INTRINSIC
low complexity region	3573	3591	N/A	INTRINSIC
low complexity region	3626	3639	N/A	INTRINSIC
low complexity region	3661	3676	N/A	INTRINSIC
Pfam:PKD_channel	3701	4103	7.1e-125	PFAM
low complexity region	4153	4172	N/A	INTRINSIC
low complexity region	4238	4256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097373

SMART Domains

Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496

Domain	Start	End	E-Value	Type
Pfam:DUF3384	54	470	4e-103	PFAM
Pfam:Tuberin	555	903	5.9e-149	PFAM
low complexity region	1023	1054	N/A	INTRINSIC
low complexity region	1271	1278	N/A	INTRINSIC
low complexity region	1310	1328	N/A	INTRINSIC
low complexity region	1330	1344	N/A	INTRINSIC
low complexity region	1378	1398	N/A	INTRINSIC
Pfam:Rap_GAP	1497	1685	1.3e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116692

Predicted Effect

probably benign
Transcript: ENSMUST00000226284

Predicted Effect

probably benign
Transcript: ENSMUST00000227058

Predicted Effect

probably benign
Transcript: ENSMUST00000227107

Predicted Effect

probably benign
Transcript: ENSMUST00000227836

Predicted Effect

probably benign
Transcript: ENSMUST00000228581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228750

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

MGI Phenotype

Strain: Several; see below
Lethality: E13-E15
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life. [provided by MGI curators]

Allele List at MGI

All alleles(32) : Targeted(28) Gene trapped(3) Chemically induced(1)

Other mutations in this stock

Total: 243 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
Abcc4	G	A	14: 118,553,349	R749C	probably damaging	Het
Acot11	T	C	4: 106,762,035	E201G	probably damaging	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Aldh4a1	T	C	4: 139,644,128	V451A	probably benign	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Arhgap23	A	G	11: 97,451,561	D223G	possibly damaging	Het
Asb6	G	A	2: 30,827,076	R46W	probably damaging	Het
Aspm	A	G	1: 139,473,574	I1111V	probably benign	Het
C4bp	C	G	1: 130,642,988	V284L	probably benign	Het
Cacna1s	T	C	1: 136,118,716	F1761S	probably benign	Het
Cad	T	A	5: 31,058,072	F76I	probably damaging	Het
Camsap2	C	T	1: 136,281,315	R802Q	probably benign	Het
Capn11	A	G	17: 45,638,697	S448P	probably benign	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Cbx5	G	A	15: 103,213,124	R29C	probably null	Het
Ccdc93	C	T	1: 121,456,126	P192L	probably benign	Het
Ccdc93	T	C	1: 121,461,939	V237A	probably benign	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cd55	C	A	1: 130,459,633	A143S	probably benign	Het
Cdh19	C	A	1: 110,893,384	E541D	probably damaging	Het
Cdh7	C	G	1: 110,065,735	L307V	possibly damaging	Het
Cfh	T	C	1: 140,136,788	K374R	probably benign	Het
Cfh	C	T	1: 140,147,697	V268I	possibly damaging	Het
Cfhr2	A	G	1: 139,813,442	M265T	probably benign	Het
Cfhr2	A	C	1: 139,813,459	N259K	probably benign	Het
Chil1	C	T	1: 134,188,529	A250V	probably damaging	Het
Cntnap5a	C	A	1: 116,455,004	L1001I	probably benign	Het
Cntnap5a	T	C	1: 116,455,101	L1033S	probably benign	Het
Cntnap5a	C	T	1: 116,455,143	T1047I	probably benign	Het
Cntnap5c	A	G	17: 58,162,291	I623V	probably benign	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Crb1	T	C	1: 139,234,779	M1214V	probably benign	Het
Crb1	A	T	1: 139,237,622	H921Q	probably benign	Het
Crb1	G	A	1: 139,241,138	P881S	probably damaging	Het
Crb1	C	T	1: 139,242,995	G825R	probably damaging	Het
Crb1	C	T	1: 139,243,417	R684H	probably benign	Het
Crocc	T	C	4: 141,021,802	D1564G	probably damaging	Het
Csf1r	A	T	18: 61,129,077	M802L	probably damaging	Het
Cxcr4	C	T	1: 128,589,277	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,407,667	R147W	probably damaging	Het
Daxx	T	C	17: 33,911,842	I277T	probably damaging	Het
Dctn4	T	C	18: 60,546,335		probably null	Het
Ddx59	T	C	1: 136,417,053	V154A	probably benign	Het
Dnah5	A	G	15: 28,313,786	Q1916R	probably damaging	Het
Dnah8	T	C	17: 30,722,937	V1719A	probably damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Dsel	G	C	1: 111,859,994	T937S	probably benign	Het
Dstyk	C	T	1: 132,456,984	L739F	probably damaging	Het
En1	A	G	1: 120,603,621	S197G	unknown	Het
Enah	A	T	1: 181,956,429	M105K	unknown	Het
Epm2a	A	G	10: 11,343,682	E71G	probably benign	Het
Etnk2	A	G	1: 133,363,923	S54G	probably benign	Het
Etnk2	C	A	1: 133,365,587	D89E	probably benign	Het
Etnk2	G	T	1: 133,365,765	G149W	probably damaging	Het
Etnk2	C	T	1: 133,365,816	R166*	probably null	Het
Etnk2	G	A	1: 133,365,817	R166Q	probably benign	Het
Etnk2	T	A	1: 133,376,915	V292E	probably benign	Het
Eya1	A	G	1: 14,170,974	V573A	probably benign	Het
Faim2	A	G	15: 99,512,542	L235P	probably damaging	Het
Fam221b	T	A	4: 43,665,537	H307L	probably damaging	Het
Fam72a	T	C	1: 131,530,668	I56T	probably benign	Het
Fam72a	C	T	1: 131,538,895	T139M	probably benign	Het
Fbxw10	T	A	11: 62,859,857	I422N	probably damaging	Het
Fcamr	A	G	1: 130,804,569	R98G	probably benign	Het
Fcamr	A	C	1: 130,804,627	N117T	probably benign	Het
Fcamr	A	G	1: 130,811,580	I206V	probably benign	Het
Fcamr	G	A	1: 130,812,629	G262S	probably benign	Het
Fcamr	A	G	1: 130,812,692	I283V	probably benign	Het
Fcamr	T	C	1: 130,812,738	V298A	probably benign	Het
Fcamr	A	G	1: 130,812,809	M322V	probably benign	Het
Fcamr	C	T	1: 130,812,816	P324L	probably benign	Het
Fcamr	A	G	1: 130,814,597	N574D	probably benign	Het
Fcmr	A	G	1: 130,875,974	T172A	probably benign	Het
Fcmr	T	C	1: 130,878,269	S321P	probably benign	Het
Foxn4	C	T	5: 114,263,132	D37N	probably damaging	Het
Gabarap	C	T	11: 69,991,689		probably benign	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gli2	C	T	1: 118,868,087	A113T	possibly damaging	Het
Gli2	G	T	1: 119,002,044	H44Q	probably benign	Het
Glrx2	C	T	1: 143,739,740	A27V	possibly damaging	Het
Gm10563	C	T	4: 155,635,880		probably benign	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,327,321		probably benign	Het
Gm8374	T	C	14: 7,364,194	T49A	probably damaging	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Gper1	C	T	5: 139,426,722	P274L	probably damaging	Het
Gpr132	A	G	12: 112,852,403	S268P	probably damaging	Het
Gpr25	G	A	1: 136,260,710	P55L	probably benign	Het
Grm7	G	C	6: 111,358,295	D556H	probably damaging	Het
H2-K1	C	A	17: 33,997,348	E275*	probably null	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Igfn1	G	A	1: 135,959,928	P2466L	probably damaging	Het
Igfn1	G	A	1: 135,968,199	A1543V	probably benign	Het
Igfn1	T	C	1: 135,970,411	S806G	probably benign	Het
Igfn1	C	T	1: 135,972,127	R482Q	probably benign	Het
Igfn1	C	T	1: 135,979,915	A231T	probably benign	Het
Igfn1	G	A	1: 135,982,475	R124W	probably benign	Het
Igfn1	T	C	1: 135,998,625	E29G	probably benign	Het
Igfn1	T	C	1: 135,998,683	I10V	unknown	Het
Ikbke	C	A	1: 131,265,937	A459S	probably benign	Het
Ikbke	T	C	1: 131,269,823	S447G	probably benign	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,386,281		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Kcnt2	G	A	1: 140,354,547	S90N	probably benign	Het
Kif14	A	G	1: 136,468,279	N108D	probably benign	Het
Kif14	A	G	1: 136,468,975	K340E	probably damaging	Het
Kif14	G	A	1: 136,478,365	A556T	probably benign	Het
Kif14	A	G	1: 136,490,332	S868G	probably benign	Het
Kif14	C	T	1: 136,503,431	L1189F	probably benign	Het
Kif14	T	C	1: 136,515,961	F1291L	probably benign	Het
Kif14	T	C	1: 136,525,783	V1433A	probably benign	Het
Kmt2a	G	A	9: 44,819,675		probably benign	Het
Krtap16-1	A	T	11: 99,985,776	C267*	probably null	Het
Lad1	C	T	1: 135,827,381	P132S	possibly damaging	Het
Lad1	C	T	1: 135,828,023	R346C	probably damaging	Het
Lax1	T	C	1: 133,679,978	R342G	probably benign	Het
Lax1	T	C	1: 133,680,569	N145D	probably benign	Het
Lax1	G	A	1: 133,683,634	P67S	probably damaging	Het
Lgr6	C	T	1: 134,987,088	V641I	probably benign	Het
Lgr6	A	T	1: 134,988,009	S334T	probably benign	Het
Lgr6	G	T	1: 134,990,635	H263N	probably benign	Het
Lgr6	C	T	1: 135,003,476	S3N	probably benign	Het
Lhx6	G	T	2: 36,087,458	C327*	probably null	Het
Lifr	A	G	15: 7,181,856	D625G	possibly damaging	Het
Lman1	A	T	18: 65,991,582	M362K	probably damaging	Het
Lmod1	C	T	1: 135,364,073	T222I	probably benign	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,896,809	L227*	probably null	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mki67	T	A	7: 135,704,241		probably null	Het
Mnx1	T	A	5: 29,474,189	S299C	unknown	Het
Mov10	A	T	3: 104,818,116	I59N	possibly damaging	Het
Mpo	A	G	11: 87,797,361	D282G	possibly damaging	Het
Mroh3	G	C	1: 136,192,144	Q440E	possibly damaging	Het
Mybph	C	T	1: 134,197,480	R249C	probably benign	Het
Myo7b	T	C	18: 31,994,897	I581V	probably benign	Het
Nav1	A	T	1: 135,584,727	D198E	possibly damaging	Het
Ncdn	T	A	4: 126,745,273		probably null	Het
Ndufa4	A	T	6: 11,900,575	V37E	probably benign	Het
Nop9	T	C	14: 55,751,142	L347P	probably damaging	Het
Nr5a2	C	A	1: 136,952,125	R35L	probably benign	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr195	A	G	16: 59,149,297	Y149C	probably damaging	Het
Olfr279	A	T	15: 98,497,835	D121V	probably damaging	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr372	A	G	8: 72,058,436	Y252C	probably damaging	Het
Optc	A	T	1: 133,903,796		probably null	Het
Optc	C	G	1: 133,905,170	S64T	probably benign	Het
Pard6g	T	C	18: 80,117,308	V212A	probably damaging	Het
Pbx1	T	G	1: 168,431,378	I43L	probably benign	Het
Phf2	T	C	13: 48,817,567	D543G	unknown	Het
Pigr	C	T	1: 130,844,522	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 133,066,627	P110S	probably benign	Het
Pla2g6	T	C	15: 79,306,345	Y339C	probably benign	Het
Plcb1	T	A	2: 135,325,667	Y460*	probably null	Het
Plekha6	C	G	1: 133,287,846	T792S	probably benign	Het
Ppard	T	G	17: 28,298,481		probably null	Het
Ppfia4	G	A	1: 134,299,321	P1159S	probably benign	Het
Ppm1f	A	G	16: 16,910,970	T79A	probably benign	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Ptgdr	A	T	14: 44,858,579	Y225*	probably null	Het
Ptpn22	A	G	3: 103,874,052	I90V	probably damaging	Het
Ptpn7	A	G	1: 135,134,475	Q53R	probably benign	Het
Ptprc	T	G	1: 138,099,676	N478T	probably benign	Het
Ptprc	A	G	1: 138,107,823	S405P	probably benign	Het
Ptprc	C	A	1: 138,107,824	E402D	probably benign	Het
Ptprc	A	G	1: 138,107,837	V400A	probably benign	Het
Ptprc	T	C	1: 138,112,254	K212E	possibly damaging	Het
Pus7l	T	C	15: 94,540,637	N109S	probably benign	Het
Rab29	A	G	1: 131,872,110	Q141R	probably benign	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Ren1	T	A	1: 133,354,206	W22R	probably damaging	Het
Ren1	C	T	1: 133,354,237	T32I	probably benign	Het
Ren1	A	T	1: 133,359,079	E315D	probably benign	Het
Ren1	A	T	1: 133,359,983	N352Y	probably benign	Het
Ren1	C	G	1: 133,360,007	L360V	probably benign	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Ripk4	A	C	16: 97,750,131	V149G	probably damaging	Het
Rnpep	C	T	1: 135,263,096	A571T	possibly damaging	Het
Rnpep	G	C	1: 135,283,977	A11G	probably benign	Het
Rora	G	A	9: 69,376,837	A396T	probably benign	Het
Scap	C	T	9: 110,374,055	L266F	probably damaging	Het
Scn5a	A	T	9: 119,521,129	I893N	probably damaging	Het
Sctr	T	C	1: 120,031,656	F110L	probably benign	Het
Sctr	G	T	1: 120,063,246	E453D	probably benign	Het
Sctr	G	A	1: 120,063,257	S440N	possibly damaging	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Serpinb10	C	T	1: 107,538,473	S63F	probably damaging	Het
Serpinb2	G	A	1: 107,515,635	A55T	probably damaging	Het
Serpinb2	C	A	1: 107,523,834	A239E	probably benign	Het
Serpinb2	C	T	1: 107,523,890	H258Y	probably benign	Het
Serpinb2	C	T	1: 107,523,894	T259I	probably benign	Het
Serpinb2	A	C	1: 107,524,543	S284R	probably benign	Het
Serpinb8	A	G	1: 107,597,527	S20G	probably benign	Het
Serpinb8	G	A	1: 107,598,954	A75T	probably benign	Het
Serpinb8	A	C	1: 107,607,004	L268F	probably benign	Het
Slc26a9	C	T	1: 131,763,870	A617V	probably benign	Het
Slc26a9	C	A	1: 131,766,012	R747S	probably benign	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Slc9a9	A	T	9: 95,019,193	N393I	possibly damaging	Het
Stard13	T	C	5: 151,045,168	Y879C	probably damaging	Het
Steap3	T	C	1: 120,227,750	N493S	probably benign	Het
Steap3	G	A	1: 120,234,378	A350V	probably benign	Het
Synj1	G	T	16: 90,964,517	A687D	probably damaging	Het
Tacc1	A	T	8: 25,164,493	N271K	probably damaging	Het
Tbx1	A	C	16: 18,585,129	F138V	probably damaging	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Thsd7b	C	T	1: 129,628,891	T328I	probably damaging	Het
Thsd7b	T	A	1: 129,667,937	F498Y	probably benign	Het
Thsd7b	G	C	1: 129,678,183	A554P	probably benign	Het
Thsd7b	A	C	1: 130,116,631	Q1116P	probably benign	Het
Tnnt2	C	T	1: 135,845,506		probably benign	Het
Trappc8	A	G	18: 20,834,940		probably null	Het
Trim33	AGACTG	A	3: 103,329,220		probably null	Het
Trim41	C	A	11: 48,807,592	G516W	probably damaging	Het
Trove2	C	T	1: 143,760,014	V465I	probably benign	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ttn	A	C	2: 76,885,926		probably null	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ube2t	C	T	1: 134,972,167	A149V	probably benign	Het
Ubr4	T	A	4: 139,423,945	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,061,376	L391P	probably damaging	Het
Vmn2r55	A	T	7: 12,668,184	D392E	probably damaging	Het
Vps13b	A	G	15: 35,879,791	Y3004C	probably damaging	Het
Vps26a	A	T	10: 62,468,397	D180E	probably benign	Het
Wisp1	G	A	15: 66,906,489	C53Y	probably damaging	Het
Xirp1	T	G	9: 120,016,907	Q970P	probably benign	Het
Zbtb46	C	T	2: 181,391,431	C479Y	probably damaging	Het
Zc3h11a	G	A	1: 133,622,154	P695S	probably benign	Het
Zc3h11a	C	T	1: 133,624,621	V583I	probably benign	Het
Zdhhc13	T	A	7: 48,824,644	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,621,304	M1225V	probably benign	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,625,353		probably benign	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly damaging	Het
Zp3r	A	G	1: 130,596,814	L164P	probably benign	Het
Zp3r	C	A	1: 130,619,414	E8D	possibly damaging	Het

Other mutations in Pkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Pkd1	APN	17	24580095	missense	probably damaging	1.00
IGL00503:Pkd1	APN	17	24565427	missense	probably benign
IGL00549:Pkd1	APN	17	24572761	missense	probably benign
IGL00573:Pkd1	APN	17	24594530	nonsense	probably null
IGL00924:Pkd1	APN	17	24571627	nonsense	probably null
IGL01319:Pkd1	APN	17	24587919	unclassified	probably benign
IGL01326:Pkd1	APN	17	24576174	nonsense	probably null
IGL01457:Pkd1	APN	17	24594821	splice site	probably null
IGL01541:Pkd1	APN	17	24586298	missense	probably damaging	1.00
IGL01575:Pkd1	APN	17	24573128	missense	probably damaging	1.00
IGL01606:Pkd1	APN	17	24576523	missense	probably damaging	0.97
IGL01642:Pkd1	APN	17	24581292	missense	probably damaging	1.00
IGL01888:Pkd1	APN	17	24585815	missense	possibly damaging	0.91
IGL01940:Pkd1	APN	17	24579746	missense	possibly damaging	0.63
IGL01958:Pkd1	APN	17	24580324	missense	probably damaging	1.00
IGL02005:Pkd1	APN	17	24586004	missense	possibly damaging	0.67
IGL02121:Pkd1	APN	17	24575927	missense	probably benign	0.03
IGL02148:Pkd1	APN	17	24579836	missense	probably damaging	1.00
IGL02409:Pkd1	APN	17	24573623	missense	probably benign	0.01
IGL02442:Pkd1	APN	17	24565226	missense	probably benign	0.41
IGL02498:Pkd1	APN	17	24585779	missense	possibly damaging	0.91
IGL02501:Pkd1	APN	17	24569699	missense	probably benign	0.01
IGL02551:Pkd1	APN	17	24573815	missense	probably damaging	1.00
IGL02635:Pkd1	APN	17	24572811	missense	probably damaging	1.00
IGL02673:Pkd1	APN	17	24571283	missense	probably benign	0.40
IGL02808:Pkd1	APN	17	24593504	missense	probably damaging	1.00
IGL02816:Pkd1	APN	17	24594515	missense	probably benign	0.00
IGL02863:Pkd1	APN	17	24569752	missense	possibly damaging	0.56
IGL02927:Pkd1	APN	17	24575189	missense	probably damaging	1.00
IGL02961:Pkd1	APN	17	24578115	missense	possibly damaging	0.81
IGL03003:Pkd1	APN	17	24593603	critical splice donor site	probably null
IGL03066:Pkd1	APN	17	24586234	missense	probably damaging	1.00
IGL03182:Pkd1	APN	17	24573818	missense	probably damaging	0.98
IGL03384:Pkd1	APN	17	24565897	missense	probably benign	0.00
IGL03404:Pkd1	APN	17	24564406	missense	probably damaging	0.97
PIT1430001:Pkd1	UTSW	17	24569511	missense	probably damaging	0.99
PIT4494001:Pkd1	UTSW	17	24577801	missense	probably damaging	1.00
PIT4677001:Pkd1	UTSW	17	24574029	missense	possibly damaging	0.94
R0017:Pkd1	UTSW	17	24578539	critical splice donor site	probably null
R0017:Pkd1	UTSW	17	24578539	critical splice donor site	probably null
R0022:Pkd1	UTSW	17	24594819	missense	probably damaging	0.98
R0022:Pkd1	UTSW	17	24594819	missense	probably damaging	0.98
R0058:Pkd1	UTSW	17	24564703	missense	probably benign	0.06
R0058:Pkd1	UTSW	17	24564703	missense	probably benign	0.06
R0085:Pkd1	UTSW	17	24586223	missense	probably damaging	0.98
R0094:Pkd1	UTSW	17	24581276	missense	possibly damaging	0.80
R0094:Pkd1	UTSW	17	24581276	missense	possibly damaging	0.80
R0135:Pkd1	UTSW	17	24565071	missense	possibly damaging	0.85
R0304:Pkd1	UTSW	17	24585946	missense	probably damaging	1.00
R0427:Pkd1	UTSW	17	24593502	missense	probably damaging	0.98
R0502:Pkd1	UTSW	17	24574792	missense	probably damaging	0.99
R0518:Pkd1	UTSW	17	24595219	missense	probably benign	0.01
R0521:Pkd1	UTSW	17	24595219	missense	probably benign	0.01
R0544:Pkd1	UTSW	17	24585683	missense	probably damaging	1.00
R0546:Pkd1	UTSW	17	24580138	missense	probably benign	0.44
R0626:Pkd1	UTSW	17	24575575	missense	probably damaging	0.96
R0648:Pkd1	UTSW	17	24594937	missense	probably damaging	1.00
R1138:Pkd1	UTSW	17	24586032	missense	probably damaging	1.00
R1302:Pkd1	UTSW	17	24568236	missense	probably benign	0.00
R1306:Pkd1	UTSW	17	24573172	missense	probably damaging	0.97
R1349:Pkd1	UTSW	17	24575266	missense	probably damaging	1.00
R1372:Pkd1	UTSW	17	24575266	missense	probably damaging	1.00
R1437:Pkd1	UTSW	17	24595132	missense	probably damaging	1.00
R1515:Pkd1	UTSW	17	24594853	missense	probably benign	0.01
R1605:Pkd1	UTSW	17	24577526	missense	possibly damaging	0.95
R1622:Pkd1	UTSW	17	24581640	missense	probably benign
R1623:Pkd1	UTSW	17	24578269	missense	probably damaging	0.99
R1726:Pkd1	UTSW	17	24564176	missense	probably damaging	0.96
R1756:Pkd1	UTSW	17	24594485	missense	probably damaging	1.00
R1780:Pkd1	UTSW	17	24581569	missense	probably benign
R1829:Pkd1	UTSW	17	24565584	missense	probably benign
R1869:Pkd1	UTSW	17	24594931	missense	probably damaging	1.00
R1920:Pkd1	UTSW	17	24595157	missense	probably damaging	0.99
R1922:Pkd1	UTSW	17	24595157	missense	probably damaging	0.99
R1987:Pkd1	UTSW	17	24576592	splice site	probably null
R1988:Pkd1	UTSW	17	24576592	splice site	probably null
R1998:Pkd1	UTSW	17	24573014	missense	probably damaging	1.00
R2007:Pkd1	UTSW	17	24579785	missense	probably damaging	1.00
R2019:Pkd1	UTSW	17	24568684	nonsense	probably null
R2054:Pkd1	UTSW	17	24574796	missense	probably benign	0.00
R2061:Pkd1	UTSW	17	24569914	missense	possibly damaging	0.89
R2196:Pkd1	UTSW	17	24580072	missense	possibly damaging	0.60
R2203:Pkd1	UTSW	17	24580889	missense	probably benign	0.01
R2301:Pkd1	UTSW	17	24574612	missense	probably benign
R2655:Pkd1	UTSW	17	24576490	missense	probably damaging	0.99
R2860:Pkd1	UTSW	17	24565446	missense	probably benign	0.43
R2861:Pkd1	UTSW	17	24565446	missense	probably benign	0.43
R3000:Pkd1	UTSW	17	24594486	missense	probably damaging	1.00
R3150:Pkd1	UTSW	17	24579791	missense	probably benign	0.00
R3747:Pkd1	UTSW	17	24591461	missense	possibly damaging	0.67
R3812:Pkd1	UTSW	17	24565641	missense	probably benign	0.00
R3859:Pkd1	UTSW	17	24578092	splice site	probably benign
R3893:Pkd1	UTSW	17	24572110	critical splice donor site	probably null
R3947:Pkd1	UTSW	17	24578037	splice site	probably benign
R3949:Pkd1	UTSW	17	24578037	splice site	probably benign
R4176:Pkd1	UTSW	17	24587997	missense	probably benign	0.17
R4199:Pkd1	UTSW	17	24570030	missense	probably benign	0.41
R4225:Pkd1	UTSW	17	24593523	missense	possibly damaging	0.50
R4439:Pkd1	UTSW	17	24585692	missense	probably damaging	1.00
R4476:Pkd1	UTSW	17	24576526	missense	probably damaging	1.00
R4716:Pkd1	UTSW	17	24576133	missense	probably damaging	1.00
R4801:Pkd1	UTSW	17	24578096	missense	probably damaging	1.00
R4802:Pkd1	UTSW	17	24578096	missense	probably damaging	1.00
R4817:Pkd1	UTSW	17	24565374	splice site	probably null
R4903:Pkd1	UTSW	17	24572002	missense	probably benign	0.30
R4910:Pkd1	UTSW	17	24572687	missense	probably damaging	1.00
R4964:Pkd1	UTSW	17	24586068	critical splice donor site	probably null
R4966:Pkd1	UTSW	17	24586068	critical splice donor site	probably null
R5040:Pkd1	UTSW	17	24571260	missense	probably benign	0.02
R5042:Pkd1	UTSW	17	24569887	missense	probably benign	0.00
R5088:Pkd1	UTSW	17	24590838	missense	possibly damaging	0.94
R5121:Pkd1	UTSW	17	24573463	missense	probably benign
R5296:Pkd1	UTSW	17	24576074	missense	probably damaging	1.00
R5338:Pkd1	UTSW	17	24594536	missense	probably benign
R5356:Pkd1	UTSW	17	24593577	missense	probably damaging	0.97
R5357:Pkd1	UTSW	17	24565790	missense	probably damaging	1.00
R5363:Pkd1	UTSW	17	24565073	missense	probably benign
R5383:Pkd1	UTSW	17	24574375	missense	probably benign
R5622:Pkd1	UTSW	17	24574040	missense	possibly damaging	0.67
R5651:Pkd1	UTSW	17	24591387	missense	possibly damaging	0.88
R5664:Pkd1	UTSW	17	24569371	missense	probably damaging	0.99
R5723:Pkd1	UTSW	17	24565523	missense	probably benign	0.01
R5797:Pkd1	UTSW	17	24592641	missense	possibly damaging	0.55
R5838:Pkd1	UTSW	17	24580212	missense	possibly damaging	0.75
R5866:Pkd1	UTSW	17	24580961	missense	probably damaging	0.99
R5873:Pkd1	UTSW	17	24569830	missense	probably benign
R5906:Pkd1	UTSW	17	24572920	missense	probably benign	0.16
R6047:Pkd1	UTSW	17	24595085	missense	probably damaging	1.00
R6076:Pkd1	UTSW	17	24581030	missense	probably benign	0.14
R6151:Pkd1	UTSW	17	24575606	missense	probably benign	0.00
R6252:Pkd1	UTSW	17	24581226	missense	probably damaging	0.98
R6341:Pkd1	UTSW	17	24580227	missense	probably damaging	1.00
R6540:Pkd1	UTSW	17	24575977	missense	probably damaging	1.00
R6732:Pkd1	UTSW	17	24569413	missense	probably damaging	1.00
R6836:Pkd1	UTSW	17	24581259	missense	probably damaging	1.00
R6856:Pkd1	UTSW	17	24573493	missense	probably benign	0.05
R6865:Pkd1	UTSW	17	24576487	missense	probably benign	0.43
R6999:Pkd1	UTSW	17	24578501	missense	possibly damaging	0.62
R7077:Pkd1	UTSW	17	24591119	missense	probably damaging	1.00
R7123:Pkd1	UTSW	17	24594768	missense	possibly damaging	0.89
R7134:Pkd1	UTSW	17	24594112	missense	probably damaging	0.99
R7210:Pkd1	UTSW	17	24575866	missense	probably damaging	0.98
R7323:Pkd1	UTSW	17	24575051	missense	probably benign	0.01
R7380:Pkd1	UTSW	17	24581642	missense	probably damaging	1.00
R7407:Pkd1	UTSW	17	24594594	missense	probably damaging	1.00
R7410:Pkd1	UTSW	17	24575881	missense	probably damaging	1.00
R7492:Pkd1	UTSW	17	24569741	missense	probably benign	0.04
R7517:Pkd1	UTSW	17	24580419	missense	probably damaging	1.00
R7543:Pkd1	UTSW	17	24595253	missense	probably damaging	0.99
R7560:Pkd1	UTSW	17	24573631	missense	probably benign	0.33
R7615:Pkd1	UTSW	17	24593502	missense	probably damaging	0.98
R7714:Pkd1	UTSW	17	24550276	missense	unknown
R7718:Pkd1	UTSW	17	24586500	missense	probably benign	0.15
R7731:Pkd1	UTSW	17	24573898	missense	probably damaging	1.00
R7849:Pkd1	UTSW	17	24586200	missense	probably damaging	0.98
R7859:Pkd1	UTSW	17	24571280	missense	probably damaging	1.00
R7866:Pkd1	UTSW	17	24590907	missense	probably benign	0.26
R7915:Pkd1	UTSW	17	24592656	nonsense	probably null
R7991:Pkd1	UTSW	17	24572621	missense	possibly damaging	0.95
R8050:Pkd1	UTSW	17	24565643	missense	probably benign	0.26
R8086:Pkd1	UTSW	17	24581214	missense	probably damaging	1.00
R8312:Pkd1	UTSW	17	24567128	missense	probably benign	0.02
R8385:Pkd1	UTSW	17	24575728	missense	possibly damaging	0.67
R8393:Pkd1	UTSW	17	24572647	missense	probably damaging	0.99
R8552:Pkd1	UTSW	17	24591469	missense	probably damaging	1.00
R8753:Pkd1	UTSW	17	24574202	missense	probably damaging	1.00
R8822:Pkd1	UTSW	17	24565641	missense	probably benign	0.00
R8855:Pkd1	UTSW	17	24573077	missense	probably damaging	1.00
R8866:Pkd1	UTSW	17	24573077	missense	probably damaging	1.00
R8867:Pkd1	UTSW	17	24573833	missense	probably damaging	1.00
R8960:Pkd1	UTSW	17	24576202	missense	probably damaging	1.00
R8966:Pkd1	UTSW	17	24575777	missense	possibly damaging	0.69
R9004:Pkd1	UTSW	17	24580447	missense	probably benign
R9015:Pkd1	UTSW	17	24565662	nonsense	probably null
R9069:Pkd1	UTSW	17	24573014	missense	probably damaging	1.00
R9092:Pkd1	UTSW	17	24569373	missense	possibly damaging	0.93
R9135:Pkd1	UTSW	17	24572002	missense
R9307:Pkd1	UTSW	17	24550477	missense	possibly damaging	0.90
R9312:Pkd1	UTSW	17	24578390	missense	probably damaging	1.00
R9313:Pkd1	UTSW	17	24594958	missense	probably damaging	1.00
R9380:Pkd1	UTSW	17	24550288	missense	unknown
R9383:Pkd1	UTSW	17	24575926	missense	probably damaging	1.00
R9531:Pkd1	UTSW	17	24573140	missense	probably damaging	0.99
R9617:Pkd1	UTSW	17	24581367	missense	probably damaging	1.00
R9691:Pkd1	UTSW	17	24577838	missense	possibly damaging	0.77
R9792:Pkd1	UTSW	17	24581198	missense	probably benign
R9793:Pkd1	UTSW	17	24581198	missense	probably benign
X0024:Pkd1	UTSW	17	24591392	missense	possibly damaging	0.68
X0061:Pkd1	UTSW	17	24594931	missense	probably damaging	1.00
X0065:Pkd1	UTSW	17	24586164	missense	probably benign	0.19
Z1088:Pkd1	UTSW	17	24565605	missense	probably benign	0.44
Z1177:Pkd1	UTSW	17	24575491	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCTTCCTCGGAGGATGTGCCAAC -3'
(R):5'- CACACGCTCACTTACAGGGGTTAC -3'

Sequencing Primer
(F):5'- TCCAGTGTTCCTGGAGAGAAAAC -3'
(R):5'- ACCAGAGTGTCATCTTCATCAGG -3'

Posted On

2014-05-23