Mutagenetix > Incidental Mutation

Incidental Mutation 'R8866:Pkd1'

675966

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

068742-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24768808-24815482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24792051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1246 (V1246A)

Ref Sequence

ENSEMBL: ENSMUSP00000049296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035565] [ENSMUST00000226883] [ENSMUST00000228745]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035565
AA Change: V1246A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855
AA Change: V1246A

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: ENSMUST00000226883

Predicted Effect

probably benign
Transcript: ENSMUST00000227107

Predicted Effect

probably benign
Transcript: ENSMUST00000228745

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,914,511 (GRCm39)	T38I	probably benign	Het
Arhgap1	G	T	2: 91,499,744 (GRCm39)	S293I	probably benign	Het
Arhgap45	C	A	10: 79,853,750 (GRCm39)	P88Q	probably damaging	Het
Atg9a	A	C	1: 75,161,867 (GRCm39)	F560V	probably damaging	Het
Btaf1	T	A	19: 36,935,901 (GRCm39)	N230K	probably benign	Het
Ccne1	A	C	7: 37,800,046 (GRCm39)	H179Q	probably benign	Het
Dbr1	T	A	9: 99,460,497 (GRCm39)	L109*	probably null	Het
Dchs1	G	T	7: 105,404,597 (GRCm39)	N2648K	probably benign	Het
Ddx47	A	G	6: 135,000,356 (GRCm39)	K451E	probably benign	Het
Dlgap1	A	T	17: 70,823,435 (GRCm39)	H140L	probably damaging	Het
Dnah11	T	A	12: 118,156,107 (GRCm39)	H181L	probably benign	Het
Dync1h1	T	C	12: 110,602,333 (GRCm39)	C2074R	probably damaging	Het
Ell2	A	T	13: 75,917,793 (GRCm39)	Q574H	probably damaging	Het
Eloa	A	C	4: 135,737,538 (GRCm39)		probably null	Het
Epha7	A	G	4: 28,821,614 (GRCm39)	I260V	probably benign	Het
Fbp2	T	C	13: 62,989,709 (GRCm39)	K199R	probably benign	Het
Fetub	A	T	16: 22,758,321 (GRCm39)	E368V	possibly damaging	Het
Fsip2	A	G	2: 82,810,521 (GRCm39)	Q2280R	probably benign	Het
Fstl4	A	G	11: 52,963,233 (GRCm39)	E205G	possibly damaging	Het
Gm5592	A	T	7: 40,938,246 (GRCm39)	R509S	possibly damaging	Het
Gpld1	A	G	13: 25,170,890 (GRCm39)	T794A	probably benign	Het
Gsk3b	A	G	16: 38,004,900 (GRCm39)	Y157C	probably damaging	Het
Hgs	A	G	11: 120,360,464 (GRCm39)	N54S	probably benign	Het
Hydin	G	A	8: 111,308,779 (GRCm39)	V4022M	possibly damaging	Het
Kank1	T	C	19: 25,388,702 (GRCm39)	S792P	possibly damaging	Het
Kctd4	A	G	14: 76,200,465 (GRCm39)	I145M	probably benign	Het
Klra5	A	T	6: 129,880,533 (GRCm39)	W212R	probably damaging	Het
Lrp6	A	T	6: 134,445,785 (GRCm39)	N1009K	probably benign	Het
Lrrc10	T	A	10: 116,881,858 (GRCm39)	N177K	probably damaging	Het
Lrrc39	T	A	3: 116,363,790 (GRCm39)	I121N	probably damaging	Het
Mov10l1	A	T	15: 88,896,169 (GRCm39)	D671V	probably benign	Het
Ndel1	A	G	11: 68,734,645 (GRCm39)		probably null	Het
Or10g3	A	T	14: 52,610,196 (GRCm39)	Y105N	probably damaging	Het
Or1e27-ps1	A	G	11: 73,555,825 (GRCm39)	Y130C	probably damaging	Het
Or1e32	A	T	11: 73,705,237 (GRCm39)	S224T	probably damaging	Het
Or51a43	A	T	7: 103,718,119 (GRCm39)	S40T	probably damaging	Het
Otop2	A	G	11: 115,220,354 (GRCm39)	D398G	probably benign	Het
Polr3b	T	A	10: 84,531,555 (GRCm39)	D810E	probably benign	Het
Ppl	T	A	16: 4,920,211 (GRCm39)	T395S	probably benign	Het
Ptprm	G	A	17: 67,116,630 (GRCm39)	A883V	probably benign	Het
Rapgef6	G	A	11: 54,443,700 (GRCm39)		probably null	Het
Rbm12	A	T	2: 155,938,693 (GRCm39)	Y526*	probably null	Het
Rbm15b	C	T	9: 106,763,595 (GRCm39)	R191Q	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Rxylt1	A	G	10: 121,924,953 (GRCm39)	Y250H	probably damaging	Het
Serpinb6c	A	T	13: 34,083,309 (GRCm39)	I35N	probably damaging	Het
Setd4	A	G	16: 93,386,961 (GRCm39)	F246L	probably damaging	Het
Shank2	A	G	7: 143,964,986 (GRCm39)	S865G	probably benign	Het
Skint6	T	C	4: 112,711,650 (GRCm39)	N956D	probably benign	Het
Slc30a3	C	A	5: 31,245,325 (GRCm39)	V332F	possibly damaging	Het
Smg1	A	G	7: 117,806,122 (GRCm39)	S240P	unknown	Het
Tank	T	A	2: 61,409,005 (GRCm39)	S7R	probably benign	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tmem74	A	G	15: 43,730,231 (GRCm39)	S271P	probably damaging	Het
Tor4a	T	C	2: 25,084,965 (GRCm39)	M313V	probably benign	Het
Tpd52l2	A	G	2: 181,154,861 (GRCm39)	D192G	probably damaging	Het
Trim29	T	C	9: 43,222,945 (GRCm39)	V258A	probably damaging	Het
Ttc39c	A	T	18: 12,831,003 (GRCm39)	S288C	probably benign	Het
Ttn	T	C	2: 76,592,675 (GRCm39)	E20819G	probably damaging	Het
Twnk	C	T	19: 45,000,272 (GRCm39)	Q663*	probably null	Het
Ucn	T	A	5: 31,295,857 (GRCm39)	Q3L	probably benign	Het
Unc80	G	A	1: 66,629,388 (GRCm39)	G1295E	probably benign	Het
Usp9y	C	T	Y: 1,395,758 (GRCm39)	R492H	probably damaging	Het
Vars1	T	C	17: 35,234,620 (GRCm39)	S1150P	probably benign	Het
Vwa5b1	T	G	4: 138,327,628 (GRCm39)	E316A	probably damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp839	A	G	12: 110,834,848 (GRCm39)	E701G	probably benign	Het
Zfp931	A	T	2: 177,710,178 (GRCm39)	C69*	probably null	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
R0304:Pkd1	UTSW	17	24,804,920 (GRCm39)	missense	probably damaging	1.00
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
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'- GGCGCTTACAGAATCACCTTGG -3'
(R):5'- GTGACATGGGCCATAAGCTG -3'

Sequencing Primer
(F):5'- CCTTGGAGGTTAACAACACAGTG -3'
(R):5'- ATAAGCTGGGCACTGGGCTG -3'

Posted On

2021-07-15