Mutagenetix > Incidental Mutation

Incidental Mutation 'R4966:Pkd1'

384056

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

042562-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4966 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

24768808-24815482 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 24805042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000035565

SMART Domains

Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855

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

probably benign
Transcript: ENSMUST00000227107

Predicted Effect

probably null
Transcript: ENSMUST00000227836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228750

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

96% (94/98)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
Abcb5	T	A	12: 118,850,626 (GRCm39)		probably benign	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Actn1	T	C	12: 80,219,904 (GRCm39)	I656V	probably benign	Het
Arhgef15	A	G	11: 68,838,143 (GRCm39)	V659A	probably benign	Het
AW551984	T	C	9: 39,508,472 (GRCm39)	E348G	possibly damaging	Het
Bbs2	A	T	8: 94,807,435 (GRCm39)	V453E	probably damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cyld	A	G	8: 89,468,929 (GRCm39)	I567V	possibly damaging	Het
Dact3	G	C	7: 16,620,013 (GRCm39)	V503L	unknown	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,798,224 (GRCm39)	E490K	probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Fgfr1	C	A	8: 26,062,461 (GRCm39)	Y665*	probably null	Het
G2e3	A	G	12: 51,418,413 (GRCm39)	I603V	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gpr45	A	G	1: 43,072,280 (GRCm39)	T308A	probably benign	Het
Grm1	T	A	10: 10,595,409 (GRCm39)	K740*	probably null	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hsh2d	C	T	8: 72,947,372 (GRCm39)	A23V	probably benign	Het
Ino80c	T	C	18: 24,239,702 (GRCm39)	D153G	probably damaging	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Myf5	A	T	10: 107,321,733 (GRCm39)	C20*	probably null	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Myo9a	A	G	9: 59,779,017 (GRCm39)	D1591G	probably benign	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nlgn1	C	T	3: 25,974,401 (GRCm39)	G165D	possibly damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Nup205	G	A	6: 35,220,784 (GRCm39)	R1862H	probably benign	Het
Nup210l	A	G	3: 90,014,208 (GRCm39)	H65R	probably benign	Het
Or2y16	A	G	11: 49,334,945 (GRCm39)	D89G	possibly damaging	Het
Or9k7	A	T	10: 130,046,306 (GRCm39)	M231K	probably benign	Het
Pcmtd1	C	A	1: 7,231,233 (GRCm39)	Y176*	probably null	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rdx	T	C	9: 51,986,309 (GRCm39)	V372A	probably benign	Het
Reep6	T	A	10: 80,169,633 (GRCm39)	F107Y	probably benign	Het
Rere	G	T	4: 150,698,273 (GRCm39)		probably benign	Het
Rmdn2	G	T	17: 79,974,304 (GRCm39)	A266S	probably damaging	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Rnpepl1	A	T	1: 92,844,483 (GRCm39)	N325I	probably damaging	Het
Rps6ka5	T	A	12: 100,519,325 (GRCm39)	M763L	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3j	T	A	12: 104,286,043 (GRCm39)	C399*	probably null	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sim2	T	C	16: 93,924,280 (GRCm39)	V475A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Snrnp25	A	G	11: 32,157,595 (GRCm39)	K58E	probably damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tm2d3	A	G	7: 65,347,469 (GRCm39)	N101S	possibly damaging	Het
Tmem201	G	T	4: 149,803,144 (GRCm39)	Q575K	probably benign	Het
Tmem241	A	G	18: 12,237,176 (GRCm39)	S87P	probably damaging	Het
Trak2	G	A	1: 58,958,480 (GRCm39)	T267I	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttk	T	A	9: 83,747,201 (GRCm39)	I680N	probably benign	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Tulp4	G	A	17: 6,249,088 (GRCm39)	E36K	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vmn2r67	A	T	7: 84,785,593 (GRCm39)	V804E	probably damaging	Het
Wdr81	T	A	11: 75,336,775 (GRCm39)	Q1538L	probably benign	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	probably benign	Het
Zmat4	T	C	8: 24,392,085 (GRCm39)	S83P	probably damaging	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
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'- CAAAGGTCTGGGTGATAACTGG -3'
(R):5'- TGGAGAGCCAGATGTGCTTG -3'

Sequencing Primer
(F):5'- GTGATAACTGGTGTCACCCTGC -3'
(R):5'- GTGCTTGTCAAAGAAGCCTC -3'

Posted On

2016-04-27