Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Pkd1'

422957

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

042941-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24768808-24815482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24784047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 198 (Y198N)

Ref Sequence

ENSEMBL: ENSMUSP00000049296 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035565
AA Change: Y198N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855
AA Change: Y198N

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,132,963 (GRCm39)	I40T	probably benign	Het
Abca13	T	C	11: 9,227,035 (GRCm39)	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc1	A	G	2: 128,492,114 (GRCm39)		probably null	Het
Ap4e1	G	A	2: 126,879,784 (GRCm39)		probably null	Het
Apod	T	C	16: 31,129,909 (GRCm39)	T16A	probably benign	Het
Arrdc5	C	T	17: 56,607,138 (GRCm39)	V36M	probably damaging	Het
Bcan	A	G	3: 87,902,794 (GRCm39)	V328A	probably damaging	Het
Bche	A	G	3: 73,607,972 (GRCm39)	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,941,756 (GRCm39)	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,528,556 (GRCm39)	T555A	probably benign	Het
Ciita	C	T	16: 10,330,031 (GRCm39)	H769Y	probably damaging	Het
Clspn	A	G	4: 126,455,579 (GRCm39)	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,358,986 (GRCm39)	M562K	probably benign	Het
Cstdc1	G	T	2: 148,625,298 (GRCm39)	L77F	probably damaging	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Cyp2a22	T	A	7: 26,635,858 (GRCm39)	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,669,410 (GRCm39)	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,544,297 (GRCm39)	I323N	probably damaging	Het
Fat4	A	G	3: 38,942,154 (GRCm39)	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Hectd4	T	C	5: 121,448,666 (GRCm39)	M338T	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Lactb2	A	T	1: 13,700,356 (GRCm39)	I225N	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mrps30	A	G	13: 118,523,698 (GRCm39)	S25P	probably benign	Het
Myg1	T	C	15: 102,246,259 (GRCm39)	V378A	probably benign	Het
Notch4	C	T	17: 34,806,097 (GRCm39)	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,710,660 (GRCm39)	D121G	probably damaging	Het
Or10p21	C	A	10: 128,847,783 (GRCm39)	P210T	probably damaging	Het
Or5d39	A	T	2: 87,980,146 (GRCm39)	D72E	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pclo	A	G	5: 14,719,424 (GRCm39)	D1187G	unknown	Het
Plk4	T	A	3: 40,756,419 (GRCm39)	N83K	possibly damaging	Het
Prune2	A	T	19: 17,095,630 (GRCm39)	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,436,674 (GRCm39)	T118K	possibly damaging	Het
Rin3	G	A	12: 102,292,093 (GRCm39)	V97M	probably damaging	Het
Rock2	T	C	12: 17,015,655 (GRCm39)		probably null	Het
Slc34a1	A	G	13: 55,551,081 (GRCm39)	I289V	probably benign	Het
Slc34a1	T	C	13: 55,560,103 (GRCm39)	L443P	probably damaging	Het
Slco2a1	A	T	9: 102,947,462 (GRCm39)	I254F	probably damaging	Het
Spink11	T	C	18: 44,328,753 (GRCm39)	I32V	probably benign	Het
Spire1	T	C	18: 67,639,625 (GRCm39)	E296G	probably damaging	Het
Sun1	A	G	5: 139,220,498 (GRCm39)	N410D	probably damaging	Het
Syt14	T	A	1: 192,612,971 (GRCm39)	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,740,866 (GRCm39)	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,353,746 (GRCm39)		probably null	Het
Thbs1	A	T	2: 117,953,147 (GRCm39)	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,024,674 (GRCm39)	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,682,468 (GRCm39)	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,194,072 (GRCm39)	E700G	probably benign	Het
Zfp446	G	A	7: 12,711,984 (GRCm39)	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555 (GRCm39)	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,359,128 (GRCm39)	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,046,819 (GRCm39)	C552R	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
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
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'- TGGTTACAGATGAGGCCCAG -3'
(R):5'- CAGTGAGATGCTGGAACACC -3'

Sequencing Primer
(F):5'- CAGATAGGGTCTAGAAGGCATCTTTG -3'
(R):5'- CACCAGGATGAGCAGGCTG -3'

Posted On

2016-08-04