Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Pkd1'

37799

Institutional Source

Beutler Lab

Gene Symbol

Pkd1

Ensembl Gene

ENSMUSG00000032855

Gene Name

polycystin 1, transient receptor potential channel interacting

Synonyms

polycystin-1, PC-1, PC1

MMRRC Submission

038515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24768808-24815482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24804920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 3190 (Q3190K)

Ref Sequence

ENSEMBL: ENSMUSP00000049296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035565]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035565
AA Change: Q3190K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855
AA Change: Q3190K

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

noncoding transcript
Transcript: ENSMUST00000226178

Predicted Effect

unknown
Transcript: ENSMUST00000227107
AA Change: Q853K

Predicted Effect

unknown
Transcript: ENSMUST00000227836
AA Change: Q34K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228750

Meta Mutation Damage Score

0.6517

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

MGI Phenotype

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	C	T	4: 144,246,619 (GRCm39)	T55I	probably benign	Het
Acod1	T	A	14: 103,292,418 (GRCm39)	I314N	probably damaging	Het
Actl11	T	A	9: 107,806,967 (GRCm39)	V430E	probably damaging	Het
Adam19	A	C	11: 46,018,219 (GRCm39)	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,802,606 (GRCm39)		probably benign	Het
Akap7	A	T	10: 25,147,450 (GRCm39)	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,578,981 (GRCm39)	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,864,612 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,427,644 (GRCm39)	I489F	probably benign	Het
Carmil1	T	C	13: 24,323,324 (GRCm39)	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,367,278 (GRCm39)	V939A	probably damaging	Het
Cel	A	C	2: 28,447,783 (GRCm39)	L377R	probably benign	Het
Clock	A	G	5: 76,374,832 (GRCm39)	V779A	unknown	Het
Cluap1	G	A	16: 3,747,782 (GRCm39)		probably benign	Het
Ctif	A	T	18: 75,654,889 (GRCm39)	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,110,129 (GRCm39)		probably benign	Het
Cytip	T	C	2: 58,038,258 (GRCm39)	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 25,048,798 (GRCm39)	M434T	probably benign	Het
Ddx47	A	G	6: 134,994,183 (GRCm39)	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,136,098 (GRCm39)	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,156,793 (GRCm39)		probably benign	Het
Drc7	A	T	8: 95,785,756 (GRCm39)	D204V	probably damaging	Het
Dsc3	A	G	18: 20,114,298 (GRCm39)	Y319H	probably damaging	Het
Eml6	T	C	11: 29,727,441 (GRCm39)	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,741,202 (GRCm39)	D365E	probably benign	Het
Ercc2	T	C	7: 19,120,633 (GRCm39)	I199T	possibly damaging	Het
Exd2	G	A	12: 80,538,014 (GRCm39)		probably benign	Het
F2	A	T	2: 91,463,578 (GRCm39)	I128N	probably damaging	Het
Fam219b	T	C	9: 57,446,159 (GRCm39)	L123P	probably damaging	Het
Fasn	A	G	11: 120,710,762 (GRCm39)	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,791,559 (GRCm39)	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,023,789 (GRCm39)	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,462,411 (GRCm39)	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241 (GRCm39)	T176A	probably benign	Het
Gm20530	T	G	17: 36,405,118 (GRCm39)		noncoding transcript	Het
Gm4787	A	T	12: 81,425,708 (GRCm39)	I150N	probably damaging	Het
Grip1	G	A	10: 119,911,376 (GRCm39)	S618N	probably benign	Het
Hdac9	T	C	12: 34,424,110 (GRCm39)	K454E	probably damaging	Het
Iars2	T	A	1: 185,019,353 (GRCm39)	I978F	possibly damaging	Het
Icosl	A	G	10: 77,911,156 (GRCm39)	Y299C	probably benign	Het
Idi1	T	C	13: 8,940,393 (GRCm39)	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,290 (GRCm39)	Q531P	probably damaging	Het
Itih4	T	A	14: 30,612,051 (GRCm39)		probably null	Het
Izumo4	A	T	10: 80,538,770 (GRCm39)	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325 (GRCm39)	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,860,724 (GRCm39)		probably null	Het
Kynu	A	T	2: 43,569,893 (GRCm39)	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,569,711 (GRCm39)	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552 (GRCm39)	L273R	probably damaging	Het
Max	A	G	12: 76,985,361 (GRCm39)	L119P	probably benign	Het
Mphosph9	T	C	5: 124,436,892 (GRCm39)	N484S	probably benign	Het
Mrgprg	A	G	7: 143,318,792 (GRCm39)	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,911,354 (GRCm39)	I199F	probably benign	Het
Mtr	C	G	13: 12,237,040 (GRCm39)		probably null	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Nkapd1	T	C	9: 50,519,222 (GRCm39)	D130G	probably damaging	Het
Nptx2	A	G	5: 144,490,460 (GRCm39)		probably benign	Het
Nrip1	T	C	16: 76,089,595 (GRCm39)	Q654R	possibly damaging	Het
Ocm	A	G	5: 143,961,352 (GRCm39)	F30L	probably damaging	Het
Oosp1	T	C	19: 11,668,333 (GRCm39)	M17V	probably benign	Het
Or14c45	C	T	7: 86,176,195 (GRCm39)	P77S	probably damaging	Het
Or4c111	G	A	2: 88,843,632 (GRCm39)	R259W	probably damaging	Het
Or4c118	A	C	2: 88,975,108 (GRCm39)	Y86*	probably null	Het
Or52ad1	G	T	7: 102,995,918 (GRCm39)	D72E	probably damaging	Het
Pax1	A	T	2: 147,208,067 (GRCm39)	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pkn1	A	C	8: 84,410,236 (GRCm39)		probably benign	Het
Plin5	T	C	17: 56,422,597 (GRCm39)	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,036,082 (GRCm39)	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 66,123,001 (GRCm39)	D334E	probably benign	Het
Ptov1	A	T	7: 44,512,873 (GRCm39)		probably null	Het
Rab22a	G	A	2: 173,503,252 (GRCm39)	V22M	probably damaging	Het
Rictor	T	A	15: 6,815,852 (GRCm39)		probably null	Het
Sart1	G	T	19: 5,430,559 (GRCm39)		probably benign	Het
Scn11a	G	A	9: 119,648,928 (GRCm39)	A45V	probably benign	Het
Serpina5	A	G	12: 104,069,459 (GRCm39)	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,001,825 (GRCm39)	G212C	probably damaging	Het
Slc38a4	A	T	15: 96,906,335 (GRCm39)	M378K	probably damaging	Het
Spata22	T	A	11: 73,231,275 (GRCm39)	C176*	probably null	Het
Tmc3	G	A	7: 83,245,347 (GRCm39)	E131K	probably damaging	Het
Trappc10	A	T	10: 78,046,594 (GRCm39)		probably benign	Het
Uvrag	A	G	7: 98,537,180 (GRCm39)	F672L	probably benign	Het
Vmn1r121	A	G	7: 20,832,332 (GRCm39)	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,413,495 (GRCm39)	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 12,836,707 (GRCm39)	M56I	probably benign	Het
Wdr62	T	C	7: 29,942,299 (GRCm39)	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,314,915 (GRCm39)	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,775,611 (GRCm39)		probably benign	Het
Zfp607a	A	T	7: 27,578,637 (GRCm39)	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,608,470 (GRCm39)	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,993,408 (GRCm39)	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,771,450 (GRCm39)	D1644V	probably benign	Het

Other mutations in Pkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Pkd1	APN	17	24,799,069 (GRCm39)	missense	probably damaging	1.00
IGL00503:Pkd1	APN	17	24,784,401 (GRCm39)	missense	probably benign
IGL00549:Pkd1	APN	17	24,791,735 (GRCm39)	missense	probably benign
IGL00573:Pkd1	APN	17	24,813,504 (GRCm39)	nonsense	probably null
IGL00924:Pkd1	APN	17	24,790,601 (GRCm39)	nonsense	probably null
IGL01319:Pkd1	APN	17	24,806,893 (GRCm39)	unclassified	probably benign
IGL01326:Pkd1	APN	17	24,795,148 (GRCm39)	nonsense	probably null
IGL01457:Pkd1	APN	17	24,813,795 (GRCm39)	splice site	probably null
IGL01541:Pkd1	APN	17	24,805,272 (GRCm39)	missense	probably damaging	1.00
IGL01575:Pkd1	APN	17	24,792,102 (GRCm39)	missense	probably damaging	1.00
IGL01606:Pkd1	APN	17	24,795,497 (GRCm39)	missense	probably damaging	0.97
IGL01642:Pkd1	APN	17	24,800,266 (GRCm39)	missense	probably damaging	1.00
IGL01888:Pkd1	APN	17	24,804,789 (GRCm39)	missense	possibly damaging	0.91
IGL01940:Pkd1	APN	17	24,798,720 (GRCm39)	missense	possibly damaging	0.63
IGL01958:Pkd1	APN	17	24,799,298 (GRCm39)	missense	probably damaging	1.00
IGL02005:Pkd1	APN	17	24,804,978 (GRCm39)	missense	possibly damaging	0.67
IGL02121:Pkd1	APN	17	24,794,901 (GRCm39)	missense	probably benign	0.03
IGL02148:Pkd1	APN	17	24,798,810 (GRCm39)	missense	probably damaging	1.00
IGL02409:Pkd1	APN	17	24,792,597 (GRCm39)	missense	probably benign	0.01
IGL02442:Pkd1	APN	17	24,784,200 (GRCm39)	missense	probably benign	0.41
IGL02498:Pkd1	APN	17	24,804,753 (GRCm39)	missense	possibly damaging	0.91
IGL02501:Pkd1	APN	17	24,788,673 (GRCm39)	missense	probably benign	0.01
IGL02551:Pkd1	APN	17	24,792,789 (GRCm39)	missense	probably damaging	1.00
IGL02635:Pkd1	APN	17	24,791,785 (GRCm39)	missense	probably damaging	1.00
IGL02673:Pkd1	APN	17	24,790,257 (GRCm39)	missense	probably benign	0.40
IGL02808:Pkd1	APN	17	24,812,478 (GRCm39)	missense	probably damaging	1.00
IGL02816:Pkd1	APN	17	24,813,489 (GRCm39)	missense	probably benign	0.00
IGL02863:Pkd1	APN	17	24,788,726 (GRCm39)	missense	possibly damaging	0.56
IGL02927:Pkd1	APN	17	24,794,163 (GRCm39)	missense	probably damaging	1.00
IGL02961:Pkd1	APN	17	24,797,089 (GRCm39)	missense	possibly damaging	0.81
IGL03003:Pkd1	APN	17	24,812,577 (GRCm39)	critical splice donor site	probably null
IGL03066:Pkd1	APN	17	24,805,208 (GRCm39)	missense	probably damaging	1.00
IGL03182:Pkd1	APN	17	24,792,792 (GRCm39)	missense	probably damaging	0.98
IGL03384:Pkd1	APN	17	24,784,871 (GRCm39)	missense	probably benign	0.00
IGL03404:Pkd1	APN	17	24,783,380 (GRCm39)	missense	probably damaging	0.97
PIT1430001:Pkd1	UTSW	17	24,788,485 (GRCm39)	missense	probably damaging	0.99
PIT4494001:Pkd1	UTSW	17	24,796,775 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Pkd1	UTSW	17	24,793,003 (GRCm39)	missense	possibly damaging	0.94
R0017:Pkd1	UTSW	17	24,797,513 (GRCm39)	critical splice donor site	probably null
R0017:Pkd1	UTSW	17	24,797,513 (GRCm39)	critical splice donor site	probably null
R0022:Pkd1	UTSW	17	24,813,793 (GRCm39)	missense	probably damaging	0.98
R0022:Pkd1	UTSW	17	24,813,793 (GRCm39)	missense	probably damaging	0.98
R0058:Pkd1	UTSW	17	24,783,677 (GRCm39)	missense	probably benign	0.06
R0058:Pkd1	UTSW	17	24,783,677 (GRCm39)	missense	probably benign	0.06
R0085:Pkd1	UTSW	17	24,805,197 (GRCm39)	missense	probably damaging	0.98
R0094:Pkd1	UTSW	17	24,800,250 (GRCm39)	missense	possibly damaging	0.80
R0094:Pkd1	UTSW	17	24,800,250 (GRCm39)	missense	possibly damaging	0.80
R0135:Pkd1	UTSW	17	24,784,045 (GRCm39)	missense	possibly damaging	0.85
R0427:Pkd1	UTSW	17	24,812,476 (GRCm39)	missense	probably damaging	0.98
R0502:Pkd1	UTSW	17	24,793,766 (GRCm39)	missense	probably damaging	0.99
R0518:Pkd1	UTSW	17	24,814,193 (GRCm39)	missense	probably benign	0.01
R0521:Pkd1	UTSW	17	24,814,193 (GRCm39)	missense	probably benign	0.01
R0544:Pkd1	UTSW	17	24,804,657 (GRCm39)	missense	probably damaging	1.00
R0546:Pkd1	UTSW	17	24,799,112 (GRCm39)	missense	probably benign	0.44
R0626:Pkd1	UTSW	17	24,794,549 (GRCm39)	missense	probably damaging	0.96
R0648:Pkd1	UTSW	17	24,813,911 (GRCm39)	missense	probably damaging	1.00
R1138:Pkd1	UTSW	17	24,805,006 (GRCm39)	missense	probably damaging	1.00
R1302:Pkd1	UTSW	17	24,787,210 (GRCm39)	missense	probably benign	0.00
R1306:Pkd1	UTSW	17	24,792,146 (GRCm39)	missense	probably damaging	0.97
R1349:Pkd1	UTSW	17	24,794,240 (GRCm39)	missense	probably damaging	1.00
R1372:Pkd1	UTSW	17	24,794,240 (GRCm39)	missense	probably damaging	1.00
R1437:Pkd1	UTSW	17	24,814,106 (GRCm39)	missense	probably damaging	1.00
R1515:Pkd1	UTSW	17	24,813,827 (GRCm39)	missense	probably benign	0.01
R1605:Pkd1	UTSW	17	24,796,500 (GRCm39)	missense	possibly damaging	0.95
R1622:Pkd1	UTSW	17	24,800,614 (GRCm39)	missense	probably benign
R1623:Pkd1	UTSW	17	24,797,243 (GRCm39)	missense	probably damaging	0.99
R1726:Pkd1	UTSW	17	24,783,150 (GRCm39)	missense	probably damaging	0.96
R1756:Pkd1	UTSW	17	24,813,459 (GRCm39)	missense	probably damaging	1.00
R1780:Pkd1	UTSW	17	24,800,543 (GRCm39)	missense	probably benign
R1785:Pkd1	UTSW	17	24,810,073 (GRCm39)	missense	probably benign	0.00
R1829:Pkd1	UTSW	17	24,784,558 (GRCm39)	missense	probably benign
R1869:Pkd1	UTSW	17	24,813,905 (GRCm39)	missense	probably damaging	1.00
R1920:Pkd1	UTSW	17	24,814,131 (GRCm39)	missense	probably damaging	0.99
R1922:Pkd1	UTSW	17	24,814,131 (GRCm39)	missense	probably damaging	0.99
R1987:Pkd1	UTSW	17	24,795,566 (GRCm39)	splice site	probably null
R1988:Pkd1	UTSW	17	24,795,566 (GRCm39)	splice site	probably null
R1998:Pkd1	UTSW	17	24,791,988 (GRCm39)	missense	probably damaging	1.00
R2007:Pkd1	UTSW	17	24,798,759 (GRCm39)	missense	probably damaging	1.00
R2019:Pkd1	UTSW	17	24,787,658 (GRCm39)	nonsense	probably null
R2054:Pkd1	UTSW	17	24,793,770 (GRCm39)	missense	probably benign	0.00
R2061:Pkd1	UTSW	17	24,788,888 (GRCm39)	missense	possibly damaging	0.89
R2196:Pkd1	UTSW	17	24,799,046 (GRCm39)	missense	possibly damaging	0.60
R2203:Pkd1	UTSW	17	24,799,863 (GRCm39)	missense	probably benign	0.01
R2301:Pkd1	UTSW	17	24,793,586 (GRCm39)	missense	probably benign
R2655:Pkd1	UTSW	17	24,795,464 (GRCm39)	missense	probably damaging	0.99
R2860:Pkd1	UTSW	17	24,784,420 (GRCm39)	missense	probably benign	0.43
R2861:Pkd1	UTSW	17	24,784,420 (GRCm39)	missense	probably benign	0.43
R3000:Pkd1	UTSW	17	24,813,460 (GRCm39)	missense	probably damaging	1.00
R3150:Pkd1	UTSW	17	24,798,765 (GRCm39)	missense	probably benign	0.00
R3747:Pkd1	UTSW	17	24,810,435 (GRCm39)	missense	possibly damaging	0.67
R3812:Pkd1	UTSW	17	24,784,615 (GRCm39)	missense	probably benign	0.00
R3859:Pkd1	UTSW	17	24,797,066 (GRCm39)	splice site	probably benign
R3893:Pkd1	UTSW	17	24,791,084 (GRCm39)	critical splice donor site	probably null
R3947:Pkd1	UTSW	17	24,797,011 (GRCm39)	splice site	probably benign
R3949:Pkd1	UTSW	17	24,797,011 (GRCm39)	splice site	probably benign
R4176:Pkd1	UTSW	17	24,806,971 (GRCm39)	missense	probably benign	0.17
R4199:Pkd1	UTSW	17	24,789,004 (GRCm39)	missense	probably benign	0.41
R4225:Pkd1	UTSW	17	24,812,497 (GRCm39)	missense	possibly damaging	0.50
R4439:Pkd1	UTSW	17	24,804,666 (GRCm39)	missense	probably damaging	1.00
R4476:Pkd1	UTSW	17	24,795,500 (GRCm39)	missense	probably damaging	1.00
R4716:Pkd1	UTSW	17	24,795,107 (GRCm39)	missense	probably damaging	1.00
R4801:Pkd1	UTSW	17	24,797,070 (GRCm39)	missense	probably damaging	1.00
R4802:Pkd1	UTSW	17	24,797,070 (GRCm39)	missense	probably damaging	1.00
R4817:Pkd1	UTSW	17	24,784,348 (GRCm39)	splice site	probably null
R4903:Pkd1	UTSW	17	24,790,976 (GRCm39)	missense	probably benign	0.30
R4910:Pkd1	UTSW	17	24,791,661 (GRCm39)	missense	probably damaging	1.00
R4964:Pkd1	UTSW	17	24,805,042 (GRCm39)	critical splice donor site	probably null
R4966:Pkd1	UTSW	17	24,805,042 (GRCm39)	critical splice donor site	probably null
R5040:Pkd1	UTSW	17	24,790,234 (GRCm39)	missense	probably benign	0.02
R5042:Pkd1	UTSW	17	24,788,861 (GRCm39)	missense	probably benign	0.00
R5088:Pkd1	UTSW	17	24,809,812 (GRCm39)	missense	possibly damaging	0.94
R5121:Pkd1	UTSW	17	24,792,437 (GRCm39)	missense	probably benign
R5296:Pkd1	UTSW	17	24,795,048 (GRCm39)	missense	probably damaging	1.00
R5338:Pkd1	UTSW	17	24,813,510 (GRCm39)	missense	probably benign
R5356:Pkd1	UTSW	17	24,812,551 (GRCm39)	missense	probably damaging	0.97
R5357:Pkd1	UTSW	17	24,784,764 (GRCm39)	missense	probably damaging	1.00
R5363:Pkd1	UTSW	17	24,784,047 (GRCm39)	missense	probably benign
R5383:Pkd1	UTSW	17	24,793,349 (GRCm39)	missense	probably benign
R5622:Pkd1	UTSW	17	24,793,014 (GRCm39)	missense	possibly damaging	0.67
R5651:Pkd1	UTSW	17	24,810,361 (GRCm39)	missense	possibly damaging	0.88
R5664:Pkd1	UTSW	17	24,788,345 (GRCm39)	missense	probably damaging	0.99
R5723:Pkd1	UTSW	17	24,784,497 (GRCm39)	missense	probably benign	0.01
R5797:Pkd1	UTSW	17	24,811,615 (GRCm39)	missense	possibly damaging	0.55
R5838:Pkd1	UTSW	17	24,799,186 (GRCm39)	missense	possibly damaging	0.75
R5866:Pkd1	UTSW	17	24,799,935 (GRCm39)	missense	probably damaging	0.99
R5873:Pkd1	UTSW	17	24,788,804 (GRCm39)	missense	probably benign
R5906:Pkd1	UTSW	17	24,791,894 (GRCm39)	missense	probably benign	0.16
R6047:Pkd1	UTSW	17	24,814,059 (GRCm39)	missense	probably damaging	1.00
R6076:Pkd1	UTSW	17	24,800,004 (GRCm39)	missense	probably benign	0.14
R6151:Pkd1	UTSW	17	24,794,580 (GRCm39)	missense	probably benign	0.00
R6252:Pkd1	UTSW	17	24,800,200 (GRCm39)	missense	probably damaging	0.98
R6341:Pkd1	UTSW	17	24,799,201 (GRCm39)	missense	probably damaging	1.00
R6540:Pkd1	UTSW	17	24,794,951 (GRCm39)	missense	probably damaging	1.00
R6732:Pkd1	UTSW	17	24,788,387 (GRCm39)	missense	probably damaging	1.00
R6836:Pkd1	UTSW	17	24,800,233 (GRCm39)	missense	probably damaging	1.00
R6856:Pkd1	UTSW	17	24,792,467 (GRCm39)	missense	probably benign	0.05
R6865:Pkd1	UTSW	17	24,795,461 (GRCm39)	missense	probably benign	0.43
R6999:Pkd1	UTSW	17	24,797,475 (GRCm39)	missense	possibly damaging	0.62
R7077:Pkd1	UTSW	17	24,810,093 (GRCm39)	missense	probably damaging	1.00
R7123:Pkd1	UTSW	17	24,813,742 (GRCm39)	missense	possibly damaging	0.89
R7134:Pkd1	UTSW	17	24,813,086 (GRCm39)	missense	probably damaging	0.99
R7210:Pkd1	UTSW	17	24,794,840 (GRCm39)	missense	probably damaging	0.98
R7323:Pkd1	UTSW	17	24,794,025 (GRCm39)	missense	probably benign	0.01
R7380:Pkd1	UTSW	17	24,800,616 (GRCm39)	missense	probably damaging	1.00
R7407:Pkd1	UTSW	17	24,813,568 (GRCm39)	missense	probably damaging	1.00
R7410:Pkd1	UTSW	17	24,794,855 (GRCm39)	missense	probably damaging	1.00
R7492:Pkd1	UTSW	17	24,788,715 (GRCm39)	missense	probably benign	0.04
R7517:Pkd1	UTSW	17	24,799,393 (GRCm39)	missense	probably damaging	1.00
R7543:Pkd1	UTSW	17	24,814,227 (GRCm39)	missense	probably damaging	0.99
R7560:Pkd1	UTSW	17	24,792,605 (GRCm39)	missense	probably benign	0.33
R7615:Pkd1	UTSW	17	24,812,476 (GRCm39)	missense	probably damaging	0.98
R7714:Pkd1	UTSW	17	24,769,250 (GRCm39)	missense	unknown
R7718:Pkd1	UTSW	17	24,805,474 (GRCm39)	missense	probably benign	0.15
R7731:Pkd1	UTSW	17	24,792,872 (GRCm39)	missense	probably damaging	1.00
R7849:Pkd1	UTSW	17	24,805,174 (GRCm39)	missense	probably damaging	0.98
R7859:Pkd1	UTSW	17	24,790,254 (GRCm39)	missense	probably damaging	1.00
R7866:Pkd1	UTSW	17	24,809,881 (GRCm39)	missense	probably benign	0.26
R7915:Pkd1	UTSW	17	24,811,630 (GRCm39)	nonsense	probably null
R7991:Pkd1	UTSW	17	24,791,595 (GRCm39)	missense	possibly damaging	0.95
R8050:Pkd1	UTSW	17	24,784,617 (GRCm39)	missense	probably benign	0.26
R8086:Pkd1	UTSW	17	24,800,188 (GRCm39)	missense	probably damaging	1.00
R8312:Pkd1	UTSW	17	24,786,102 (GRCm39)	missense	probably benign	0.02
R8385:Pkd1	UTSW	17	24,794,702 (GRCm39)	missense	possibly damaging	0.67
R8393:Pkd1	UTSW	17	24,791,621 (GRCm39)	missense	probably damaging	0.99
R8552:Pkd1	UTSW	17	24,810,443 (GRCm39)	missense	probably damaging	1.00
R8753:Pkd1	UTSW	17	24,793,176 (GRCm39)	missense	probably damaging	1.00
R8822:Pkd1	UTSW	17	24,784,615 (GRCm39)	missense	probably benign	0.00
R8855:Pkd1	UTSW	17	24,792,051 (GRCm39)	missense	probably damaging	1.00
R8866:Pkd1	UTSW	17	24,792,051 (GRCm39)	missense	probably damaging	1.00
R8867:Pkd1	UTSW	17	24,792,807 (GRCm39)	missense	probably damaging	1.00
R8960:Pkd1	UTSW	17	24,795,176 (GRCm39)	missense	probably damaging	1.00
R8966:Pkd1	UTSW	17	24,794,751 (GRCm39)	missense	possibly damaging	0.69
R9004:Pkd1	UTSW	17	24,799,421 (GRCm39)	missense	probably benign
R9015:Pkd1	UTSW	17	24,784,636 (GRCm39)	nonsense	probably null
R9069:Pkd1	UTSW	17	24,791,988 (GRCm39)	missense	probably damaging	1.00
R9092:Pkd1	UTSW	17	24,788,347 (GRCm39)	missense	possibly damaging	0.93
R9135:Pkd1	UTSW	17	24,790,976 (GRCm39)	missense
R9307:Pkd1	UTSW	17	24,769,451 (GRCm39)	missense	possibly damaging	0.90
R9312:Pkd1	UTSW	17	24,797,364 (GRCm39)	missense	probably damaging	1.00
R9313:Pkd1	UTSW	17	24,813,932 (GRCm39)	missense	probably damaging	1.00
R9380:Pkd1	UTSW	17	24,769,262 (GRCm39)	missense	unknown
R9383:Pkd1	UTSW	17	24,794,900 (GRCm39)	missense	probably damaging	1.00
R9531:Pkd1	UTSW	17	24,792,114 (GRCm39)	missense	probably damaging	0.99
R9617:Pkd1	UTSW	17	24,800,341 (GRCm39)	missense	probably damaging	1.00
R9691:Pkd1	UTSW	17	24,796,812 (GRCm39)	missense	possibly damaging	0.77
R9792:Pkd1	UTSW	17	24,800,172 (GRCm39)	missense	probably benign
R9793:Pkd1	UTSW	17	24,800,172 (GRCm39)	missense	probably benign
X0024:Pkd1	UTSW	17	24,810,366 (GRCm39)	missense	possibly damaging	0.68
X0061:Pkd1	UTSW	17	24,813,905 (GRCm39)	missense	probably damaging	1.00
X0065:Pkd1	UTSW	17	24,805,138 (GRCm39)	missense	probably benign	0.19
Z1088:Pkd1	UTSW	17	24,784,579 (GRCm39)	missense	probably benign	0.44
Z1177:Pkd1	UTSW	17	24,794,465 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTGGACATCTTCCAAATTGCCAC -3'
(R):5'- TGTCAAAGAAGCCTCTCTGCAACTC -3'

Sequencing Primer
(F):5'- ATTGCCACCCCGCACAG -3'
(R):5'- ACAGCGCAGCTTCATCTG -3'

Posted On

2013-05-23