Mutagenetix > Incidental Mutation

Incidental Mutation 'R4910:Pkd1'

379457

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

042512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24768808-24815482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24791661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1116 (V1116E)

Ref Sequence

ENSEMBL: ENSMUSP00000049296 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035565
AA Change: V1116E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855
AA Change: V1116E

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: ENSMUST00000227107

Predicted Effect

probably benign
Transcript: ENSMUST00000228745

Meta Mutation Damage Score

0.7622

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.6%
20x: 86.1%

Validation Efficiency

95% (144/151)

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,776,435 (GRCm39)		probably null	Het
Adam3	T	A	8: 25,184,321 (GRCm39)	I560L	probably benign	Het
Agxt	T	C	1: 93,063,436 (GRCm39)	F113L	probably benign	Het
Aknad1	T	A	3: 108,688,568 (GRCm39)		probably null	Het
Alpk2	T	A	18: 65,399,357 (GRCm39)	K2074*	probably null	Het
Apob	A	G	12: 8,057,848 (GRCm39)	Y2077C	probably damaging	Het
Arhgap17	A	T	7: 122,907,600 (GRCm39)	L254Q	probably damaging	Het
Arhgap26	T	A	18: 39,126,690 (GRCm39)		probably benign	Het
Arhgef5	A	G	6: 43,249,762 (GRCm39)	D171G	probably benign	Het
Arid1b	T	A	17: 5,392,478 (GRCm39)	S2003T	probably damaging	Het
Armc5	T	G	7: 127,839,900 (GRCm39)	L406R	possibly damaging	Het
Arsb	T	C	13: 93,908,485 (GRCm39)	V67A	probably benign	Het
Aspm	A	G	1: 139,419,281 (GRCm39)	Y2982C	probably damaging	Het
Bltp1	C	A	3: 37,052,348 (GRCm39)	T3016K	probably damaging	Het
Btbd7	A	G	12: 102,774,307 (GRCm39)	L487P	probably damaging	Het
Card11	C	G	5: 140,860,169 (GRCm39)	D1063H	probably damaging	Het
Ccdc186	G	A	19: 56,787,123 (GRCm39)	T615M	probably damaging	Het
Cd101	T	A	3: 100,901,205 (GRCm39)	T960S	probably benign	Het
Cdca7l	C	A	12: 117,837,520 (GRCm39)	S191*	probably null	Het
Cemip	A	T	7: 83,646,619 (GRCm39)	I143N	probably damaging	Het
Cep170	C	T	1: 176,609,829 (GRCm39)	E161K	possibly damaging	Het
Cfhr4	T	G	1: 139,702,301 (GRCm39)	D61A	probably damaging	Het
Chrm2	A	T	6: 36,501,168 (GRCm39)	T342S	probably benign	Het
Cib2	A	G	9: 54,457,163 (GRCm39)	F34L	probably benign	Het
Cnot1	A	T	8: 96,459,859 (GRCm39)	I1836N	probably benign	Het
Col4a3	C	A	1: 82,650,400 (GRCm39)	P552Q	unknown	Het
Cp	T	A	3: 20,043,388 (GRCm39)		probably benign	Het
Cul3	C	T	1: 80,267,806 (GRCm39)	V112I	probably benign	Het
Dcdc5	A	G	2: 106,195,895 (GRCm39)		noncoding transcript	Het
Disp1	A	T	1: 182,917,027 (GRCm39)	V133E	probably damaging	Het
Dlg4	A	G	11: 69,921,751 (GRCm39)	D30G	probably damaging	Het
Dop1a	C	T	9: 86,374,114 (GRCm39)	T191I	probably damaging	Het
Enam	T	G	5: 88,650,173 (GRCm39)	S561A	probably benign	Het
Fbxw8	G	T	5: 118,263,092 (GRCm39)		probably null	Het
Filip1	A	G	9: 79,725,214 (GRCm39)	V1135A	probably benign	Het
Galnt6	T	C	15: 100,614,059 (GRCm39)	T81A	probably benign	Het
Ghdc	T	C	11: 100,657,814 (GRCm39)	K472E	probably benign	Het
Gm10568	T	G	1: 3,751,164 (GRCm39)		noncoding transcript	Het
Gm4953	T	A	1: 158,995,929 (GRCm39)		noncoding transcript	Het
Gm6871	T	A	7: 41,223,016 (GRCm39)	H24L	probably benign	Het
Gpr155	G	A	2: 73,197,882 (GRCm39)	Q413*	probably null	Het
Grhl2	A	G	15: 37,291,920 (GRCm39)		probably null	Het
Ighv1-31	G	C	12: 114,793,128 (GRCm39)	S36*	probably null	Het
Ighv8-5	A	G	12: 115,031,462 (GRCm39)	S26P	probably damaging	Het
Igkv17-134	A	C	6: 67,697,910 (GRCm39)		probably benign	Het
Igkv5-48	A	C	6: 69,703,833 (GRCm39)	L24R	probably damaging	Het
Isg20l2	T	A	3: 87,846,570 (GRCm39)	V340E	probably damaging	Het
Lrrtm1	A	G	6: 77,221,884 (GRCm39)	Y447C	probably damaging	Het
Ltbp1	T	C	17: 75,634,287 (GRCm39)	S855P	probably damaging	Het
Mgat4e	A	T	1: 134,469,602 (GRCm39)	N147K	probably damaging	Het
Mlc1	A	G	15: 88,842,415 (GRCm39)	L315P	possibly damaging	Het
Mrgpra2a	A	G	7: 47,076,292 (GRCm39)	V322A	probably benign	Het
Mroh7	T	C	4: 106,567,152 (GRCm39)		probably null	Het
Mybpc1	T	A	10: 88,391,586 (GRCm39)	K304*	probably null	Het
Nlrp14	A	C	7: 106,785,790 (GRCm39)	D622A	possibly damaging	Het
Nlrp1b	T	A	11: 71,108,103 (GRCm39)	H466L	probably benign	Het
Nlrp4d	T	A	7: 10,112,336 (GRCm39)		noncoding transcript	Het
Nrxn3	A	G	12: 89,227,130 (GRCm39)	E628G	possibly damaging	Het
Nup133	T	C	8: 124,653,870 (GRCm39)	R530G	possibly damaging	Het
Nup98	A	G	7: 101,845,007 (GRCm39)	S21P	unknown	Het
Or2h2b-ps1	T	C	17: 37,480,934 (GRCm39)	I202V	probably benign	Het
Or2l13b	T	C	16: 19,348,768 (GRCm39)	T301A	probably benign	Het
Or4f14b	A	T	2: 111,775,423 (GRCm39)	I126K	possibly damaging	Het
Or52e8	G	A	7: 104,624,686 (GRCm39)	P169S	possibly damaging	Het
Or5k1	T	A	16: 58,617,805 (GRCm39)	T135S	probably benign	Het
Or6c66	T	C	10: 129,461,676 (GRCm39)	T85A	probably damaging	Het
Or8c11	T	A	9: 38,290,038 (GRCm39)	V287E	probably null	Het
Otog	A	T	7: 45,913,486 (GRCm39)	Y773F	probably damaging	Het
Otog	A	T	7: 45,947,958 (GRCm39)	I2320F	probably damaging	Het
Otogl	T	C	10: 107,715,378 (GRCm39)	S433G	probably benign	Het
Pcdhb17	A	T	18: 37,618,212 (GRCm39)	M1L	possibly damaging	Het
Pde7b	T	A	10: 20,600,480 (GRCm39)		probably benign	Het
Pgm1	T	C	4: 99,820,724 (GRCm39)	V207A	probably damaging	Het
Pkd1l1	T	A	11: 8,879,360 (GRCm39)	Y497F	possibly damaging	Het
Pomgnt2	T	C	9: 121,812,013 (GRCm39)	N256S	probably benign	Het
Pot1a	A	T	6: 25,746,020 (GRCm39)		probably benign	Het
Prdm9	T	C	17: 15,764,585 (GRCm39)	T732A	probably benign	Het
Prg4	T	A	1: 150,331,574 (GRCm39)		probably benign	Het
Ptpro	T	C	6: 137,345,336 (GRCm39)	V114A	probably damaging	Het
Pyurf	A	G	6: 57,668,933 (GRCm39)	S20P	unknown	Het
Rasgrf1	A	G	9: 89,858,805 (GRCm39)	T488A	probably benign	Het
Rassf8	A	T	6: 145,761,006 (GRCm39)	K111*	probably null	Het
Reps1	A	T	10: 17,983,436 (GRCm39)	E426D	probably damaging	Het
Robo2	T	C	16: 73,730,666 (GRCm39)	K982R	probably damaging	Het
Rps23	T	C	13: 91,071,871 (GRCm39)		probably null	Het
Scamp4	T	A	10: 80,445,505 (GRCm39)	V56E	probably damaging	Het
Serpina1c	C	T	12: 103,861,291 (GRCm39)	V408I	probably benign	Het
Sigirr	A	G	7: 140,673,701 (GRCm39)	W49R	probably damaging	Het
Slc17a6	A	T	7: 51,308,489 (GRCm39)	H271L	possibly damaging	Het
Slc7a5	G	T	8: 122,611,861 (GRCm39)	T389K	probably damaging	Het
Slf1	T	A	13: 77,191,999 (GRCm39)	H945L	probably benign	Het
Slit3	T	C	11: 35,523,549 (GRCm39)	S662P	probably damaging	Het
Snta1	C	A	2: 154,218,938 (GRCm39)	E466*	probably null	Het
Sowaha	A	G	11: 53,369,272 (GRCm39)	L488P	probably damaging	Het
Spata17	C	A	1: 186,926,208 (GRCm39)	V41F	probably damaging	Het
Spta1	T	A	1: 174,045,429 (GRCm39)		probably null	Het
Srrm2	T	A	17: 24,034,362 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,985,992 (GRCm39)	N388S	probably benign	Het
Stmn3	T	C	2: 180,950,630 (GRCm39)	K59E	probably damaging	Het
Sval1	A	G	6: 41,932,378 (GRCm39)	N76S	probably benign	Het
Svep1	T	C	4: 58,096,276 (GRCm39)	H1448R	possibly damaging	Het
Sycp2	A	T	2: 178,000,017 (GRCm39)	D986E	probably benign	Het
Sytl5	C	T	X: 9,781,841 (GRCm39)	P181L	possibly damaging	Het
Tbkbp1	G	A	11: 97,029,956 (GRCm39)	S400L	probably benign	Het
Tesc	G	T	5: 118,194,531 (GRCm39)		probably benign	Het
Tjp1	C	T	7: 64,993,475 (GRCm39)	G33R	probably damaging	Het
Tlr11	C	A	14: 50,600,346 (GRCm39)	F777L	probably benign	Het
Tmem156	A	G	5: 65,248,805 (GRCm39)		probably benign	Het
Top3a	A	G	11: 60,643,204 (GRCm39)		probably benign	Het
Tpcn1	A	G	5: 120,694,584 (GRCm39)	W162R	probably damaging	Het
Tpd52l2	A	T	2: 181,157,005 (GRCm39)		probably benign	Het
Trim80	G	A	11: 115,337,281 (GRCm39)	G381D	probably damaging	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn2r117	TC	T	17: 23,698,487 (GRCm39)		probably null	Het
Vmn2r56	T	A	7: 12,449,462 (GRCm39)	I259F	possibly damaging	Het
Vmn2r59	T	C	7: 41,693,077 (GRCm39)	T508A	probably benign	Het
Wdr73	A	G	7: 80,541,456 (GRCm39)	V362A	probably damaging	Het
Zdhhc21	G	T	4: 82,738,568 (GRCm39)	T207K	possibly damaging	Het
Zfp120	T	A	2: 149,959,872 (GRCm39)	Q150L	probably damaging	Het
Zfp212	C	A	6: 47,908,433 (GRCm39)	Q471K	possibly damaging	Het
Zfp804b	C	T	5: 6,820,540 (GRCm39)	G841D	possibly damaging	Het
Znfx1	A	T	2: 166,878,724 (GRCm39)	M1884K	probably damaging	Het
Znfx1	G	T	2: 166,879,402 (GRCm39)	A1658D	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
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
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'- CAGTTGTGCTTAGAAATGCTCC -3'
(R):5'- TTCTGTAAGCGCCCGTCATG -3'

Sequencing Primer
(F):5'- AGTTGTGCTTAGAAATGCTCCTATCC -3'
(R):5'- TAAGCGCCCGTCATGCTGTAG -3'

Posted On

2016-04-15