Mutagenetix > Incidental Mutation

Incidental Mutation 'R2061:Pkd1'

316302

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

040066-MU

Accession Numbers

Ncbi RefSeq: NM_013630.2; MGI:97603

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24549834-24596508 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24569914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 882 (E882G)

Ref Sequence

ENSEMBL: ENSMUSP00000049296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035565] [ENSMUST00000228745]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035565
AA Change: E882G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855
AA Change: E882G

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: ENSMUST00000228745

Meta Mutation Damage Score

0.2498

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (124/125)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	C	9: 103,268,314	M395V	probably benign	Het
2610507B11Rik	T	A	11: 78,268,749	C541*	probably null	Het
9130011E15Rik	C	T	19: 45,978,667	R12Q	probably damaging	Het
A4gnt	T	C	9: 99,620,359	S191P	probably damaging	Het
AI314180	G	T	4: 58,824,270	P1116T	probably damaging	Het
Ak2	C	T	4: 129,008,197	A221V	probably damaging	Het
Akap9	T	A	5: 3,961,010	V571E	probably damaging	Het
Amph	G	T	13: 19,125,035	E428*	probably null	Het
Arnt2	T	A	7: 84,343,870	D154V	probably damaging	Het
Arrdc1	G	A	2: 24,926,352	Q202*	probably null	Het
Ate1	A	G	7: 130,510,913	C72R	probably damaging	Het
Atox1	A	G	11: 55,454,898	V22A	possibly damaging	Het
Bbs12	A	T	3: 37,319,066	M3L	probably damaging	Het
BC067074	T	A	13: 113,318,094	W225R	probably damaging	Het
Bfsp1	A	G	2: 143,862,678	V85A	probably benign	Het
Caskin2	C	A	11: 115,803,630	V382F	probably benign	Het
Ccdc39	T	A	3: 33,819,896	M596L	probably damaging	Het
Cd22	C	T	7: 30,870,105	V529M	probably damaging	Het
Cd22	A	C	7: 30,876,156	Y154D	probably benign	Het
Cdadc1	T	A	14: 59,581,334	E348D	probably damaging	Het
Cdhr2	T	C	13: 54,720,818	V531A	probably damaging	Het
Cdk11b	A	G	4: 155,641,604		probably benign	Het
Cebpa	G	T	7: 35,119,522	R35L	probably damaging	Het
Chat	T	C	14: 32,446,873	N235S	probably benign	Het
Col12a1	T	A	9: 79,617,705	I2725F	possibly damaging	Het
Cracr2b	A	G	7: 141,465,280	E231G	probably damaging	Het
Cryaa	G	T	17: 31,681,055	A151S	probably benign	Het
Dab1	A	T	4: 104,678,741	I116F	probably damaging	Het
Ddx43	C	A	9: 78,396,104	N75K	probably benign	Het
Dmbt1	T	G	7: 131,099,133	C1014G	possibly damaging	Het
Dner	C	A	1: 84,405,989	C558F	probably damaging	Het
Dsc2	A	G	18: 20,032,399	V839A	possibly damaging	Het
Dsg3	C	T	18: 20,527,737	R378*	probably null	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Epha6	T	C	16: 59,655,797	M1069V	probably damaging	Het
F930017D23Rik	A	C	10: 43,604,420		noncoding transcript	Het
Faf1	A	T	4: 109,710,808	N22Y	probably damaging	Het
Flrt3	A	T	2: 140,661,453	V85E	probably damaging	Het
Gadl1	T	A	9: 115,941,380	I87N	probably damaging	Het
Galnt14	A	G	17: 73,512,153	F314S	probably damaging	Het
Gba2	A	T	4: 43,574,029	Y141*	probably null	Het
Gdap1	A	T	1: 17,145,465		probably benign	Het
Gfod1	A	T	13: 43,303,243		probably null	Het
Gm14295	C	T	2: 176,810,681	R655*	probably null	Het
Gm4353	A	G	7: 116,083,699	S216P	probably damaging	Het
Gm6605	T	A	7: 38,448,282		noncoding transcript	Het
Hectd1	A	T	12: 51,794,444	D634E	probably damaging	Het
Helz2	A	G	2: 181,240,544	I152T	probably damaging	Het
Hivep1	A	G	13: 42,160,124	K1947E	possibly damaging	Het
Ifrd1	A	T	12: 40,213,245	F144L	probably benign	Het
Itgae	A	T	11: 73,118,622	Q544L	probably benign	Het
Jmjd1c	A	T	10: 67,218,426	E323D	probably damaging	Het
Kdm5a	G	T	6: 120,381,617	R207L	probably benign	Het
Kif5b	C	T	18: 6,226,377		probably null	Het
Lbp	T	C	2: 158,324,579	V351A	probably benign	Het
Lss	A	T	10: 76,546,098		probably null	Het
Madd	A	C	2: 91,161,486		probably benign	Het
Map6	G	A	7: 99,317,472	V503I	probably damaging	Het
Mark1	A	G	1: 184,928,063	L22P	probably damaging	Het
Mcfd2	T	C	17: 87,255,976	N130D	probably damaging	Het
Mcm3ap	A	G	10: 76,470,068	N5S	probably benign	Het
Mdm4	A	T	1: 133,012,651	F48I	probably damaging	Het
Mga	A	T	2: 119,964,980		probably benign	Het
Mknk2	A	T	10: 80,671,557		probably null	Het
Mmp15	T	C	8: 95,370,779	Y459H	possibly damaging	Het
Mthfd1l	A	G	10: 4,103,288	K879R	probably benign	Het
Mycbp2	T	C	14: 103,287,260	K655E	probably damaging	Het
Nasp	T	C	4: 116,611,126	N221D	probably benign	Het
Ndc80	T	C	17: 71,514,218	E245G	probably benign	Het
Nmral1	C	T	16: 4,716,329	E83K	probably damaging	Het
Noa1	T	A	5: 77,304,187	Q550L	possibly damaging	Het
Nutm1	A	T	2: 112,255,752	Y211*	probably null	Het
Olfr1420	T	A	19: 11,896,557	Y179N	probably damaging	Het
Olfr1474	A	G	19: 13,471,241	I90M	probably damaging	Het
Olfr148	G	T	9: 39,613,775	M69I	probably benign	Het
Olfr700	A	C	7: 106,805,768	H231Q	probably benign	Het
Olfr723	T	C	14: 49,929,021	I174M	possibly damaging	Het
Otoa	T	C	7: 121,131,328	F584L	probably damaging	Het
Palb2	G	A	7: 122,124,525	T304I	possibly damaging	Het
Pcolce2	A	T	9: 95,670,176	M121L	probably benign	Het
Pcsk5	T	C	19: 17,454,872	T1460A	probably benign	Het
Pdzrn4	A	T	15: 92,770,160	D731V	probably damaging	Het
Pex11b	C	A	3: 96,635,721	Q12K	possibly damaging	Het
Pigw	G	C	11: 84,877,310	Q398E	probably benign	Het
Pkhd1	A	T	1: 20,612,812	N55K	possibly damaging	Het
Plch2	A	T	4: 155,042,841		probably benign	Het
Plcl1	T	A	1: 55,751,345	L1058Q	probably benign	Het
Ppfia2	T	C	10: 106,837,329	S511P	possibly damaging	Het
Ppfibp2	T	C	7: 107,739,230	L676P	probably damaging	Het
Ppp6c	T	G	2: 39,226,174	D23A	probably damaging	Het
Pqlc1	G	T	18: 80,291,715	A232S	probably benign	Het
Prss30	G	A	17: 23,974,668		probably benign	Het
Ptprz1	T	C	6: 23,049,675		probably null	Het
Rec114	T	A	9: 58,652,905		probably benign	Het
Ryr2	T	C	13: 11,665,878		probably null	Het
Ryr3	A	T	2: 112,663,004	I3715N	possibly damaging	Het
Scin	T	C	12: 40,080,948	Y322C	probably damaging	Het
Scn3a	A	G	2: 65,461,308	V1698A	probably damaging	Het
Scn5a	G	A	9: 119,485,651	S1996L	probably damaging	Het
Serpinb2	A	G	1: 107,522,795	K174R	possibly damaging	Het
Slc16a4	T	C	3: 107,300,711	I179T	probably benign	Het
Slc35b1	T	G	11: 95,385,892	F102V	possibly damaging	Het
Slc6a15	A	G	10: 103,409,734	D526G	probably benign	Het
Spata16	A	G	3: 26,924,370	D495G	probably damaging	Het
Stk11ip	G	A	1: 75,529,584	E583K	possibly damaging	Het
Stk-ps1	T	G	17: 36,398,152		noncoding transcript	Het
Sufu	T	A	19: 46,397,212	I37N	probably damaging	Het
Tacr1	C	T	6: 82,492,554	P140S	probably damaging	Het
Tas1r3	G	A	4: 155,860,470	R765C	probably damaging	Het
Tenm3	C	T	8: 48,342,256		probably null	Het
Tex36	A	T	7: 133,595,223	I55N	probably damaging	Het
Tmem150c	T	C	5: 100,080,028	Y192C	probably damaging	Het
Tmem237	A	G	1: 59,120,286		probably benign	Het
Trim11	A	G	11: 58,982,063	E191G	probably damaging	Het
Ttll3	C	T	6: 113,409,042	A612V	possibly damaging	Het
Ttn	G	A	2: 76,977,122	A89V	probably damaging	Het
Usp37	A	G	1: 74,468,272	F529L	probably damaging	Het
Vmn1r217	A	C	13: 23,114,528	V68G	probably benign	Het
Vwf	T	C	6: 125,591,188	S349P	probably damaging	Het
Wt1	G	A	2: 105,131,157		probably null	Het
Zcchc7	T	A	4: 44,895,838	L262H	probably damaging	Het
Zfp873	A	G	10: 82,060,157	S241G	probably benign	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
R1785:Pkd1	UTSW	17	24591099	missense	probably benign	0.00
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
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'- CTGAGAGTCATTCACCCCATCC -3'
(R):5'- GGTTGTAGGACACTTACCACC -3'

Sequencing Primer
(F):5'- ATCCCCCTTGATGGCCAC -3'
(R):5'- TTGTAGGACACTTACCACCAGGATG -3'

Posted On

2015-05-15