Mutagenetix > Incidental Mutation

Incidental Mutation 'R5664:Pkd1'

444299

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

043307-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24549834-24596508 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24569371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 701 (D701V)

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: D701V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855
AA Change: D701V

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,348,994 (GRCm38)		probably null	Het
1810032O08Rik	A	T	11: 116,672,664 (GRCm38)	T27S	possibly damaging	Het
4930432K21Rik	A	T	8: 84,166,659 (GRCm38)	I152F	probably benign	Het
9430015G10Rik	T	A	4: 156,123,559 (GRCm38)	L112H	probably damaging	Het
Acaca	T	C	11: 84,243,384 (GRCm38)	L441P	probably damaging	Het
Ank3	G	A	10: 70,002,565 (GRCm38)	R1566K	possibly damaging	Het
Arsj	A	T	3: 126,438,657 (GRCm38)	I351F	probably damaging	Het
Atp6v1b2	A	G	8: 69,107,620 (GRCm38)	T373A	probably damaging	Het
Atr	C	A	9: 95,905,813 (GRCm38)	N1486K	probably benign	Het
Avl9	T	C	6: 56,753,839 (GRCm38)	S583P	probably damaging	Het
Bptf	A	T	11: 107,073,699 (GRCm38)	D1493E	probably benign	Het
C2cd2l	T	C	9: 44,313,772 (GRCm38)	E548G	probably damaging	Het
Capn3	G	A	2: 120,477,025 (GRCm38)	R15Q	probably benign	Het
Ccl3	A	G	11: 83,649,213 (GRCm38)	F22S	probably benign	Het
Clcf1	T	C	19: 4,222,096 (GRCm38)	F69S	probably damaging	Het
Col13a1	T	C	10: 61,851,116 (GRCm38)	E170G	probably damaging	Het
Dhx29	T	A	13: 112,946,879 (GRCm38)	F489L	probably damaging	Het
Dhx8	A	T	11: 101,740,751 (GRCm38)	N390I	probably damaging	Het
Dkk1	T	A	19: 30,548,789 (GRCm38)	Y135F	probably benign	Het
Edil3	G	T	13: 89,319,713 (GRCm38)	V446F	probably damaging	Het
Epha5	T	A	5: 84,331,866 (GRCm38)	E93V	probably damaging	Het
Epsti1	C	T	14: 77,963,664 (GRCm38)	T196I	possibly damaging	Het
Fras1	T	C	5: 96,728,535 (GRCm38)	S2376P	possibly damaging	Het
Frem2	A	G	3: 53,652,490 (GRCm38)	V1532A	probably benign	Het
Fsip2	T	A	2: 82,988,095 (GRCm38)	M4724K	probably benign	Het
Gcat	T	A	15: 79,043,073 (GRCm38)	L238Q	probably damaging	Het
Gimap6	T	C	6: 48,702,275 (GRCm38)	K276E	probably benign	Het
Gjb5	T	A	4: 127,355,929 (GRCm38)	I141F	probably benign	Het
Glt6d1	T	C	2: 25,814,180 (GRCm38)	I7V	probably benign	Het
Gm37596	A	G	3: 93,692,687 (GRCm38)	F125S	probably benign	Het
Gm5771	C	T	6: 41,394,671 (GRCm38)	P17L	probably benign	Het
Gm6169	C	A	13: 97,099,121 (GRCm38)	L39F	probably damaging	Het
Gtf2h5	G	A	17: 6,084,524 (GRCm38)	G30R	probably damaging	Het
Herc6	C	A	6: 57,618,684 (GRCm38)	T449K	probably benign	Het
Hpn	A	T	7: 31,099,262 (GRCm38)	Y132N	probably damaging	Het
Hpx	A	T	7: 105,595,148 (GRCm38)	M190K	probably benign	Het
Inf2	A	G	12: 112,611,728 (GRCm38)	H1151R	unknown	Het
Krt74	A	G	15: 101,760,579 (GRCm38)		noncoding transcript	Het
Loxl3	G	A	6: 83,049,882 (GRCm38)	S564N	probably benign	Het
Map7	T	A	10: 20,267,359 (GRCm38)	V418E	unknown	Het
Mrpl37	T	C	4: 107,064,391 (GRCm38)	N214D	probably benign	Het
Mthfr	T	C	4: 148,055,466 (GRCm38)	Y656H	probably damaging	Het
Myo9b	A	G	8: 71,359,882 (GRCm38)	D2099G	probably benign	Het
Nktr	T	A	9: 121,749,417 (GRCm38)	C825*	probably null	Het
Nomo1	A	G	7: 46,076,157 (GRCm38)	E1029G	probably benign	Het
Nup133	T	C	8: 123,906,281 (GRCm38)	D1037G	probably benign	Het
Olfr1271	A	G	2: 90,265,615 (GRCm38)	F272L	probably damaging	Het
Olfr153	T	C	2: 87,532,834 (GRCm38)	L267P	probably benign	Het
Pcdhb14	T	A	18: 37,448,996 (GRCm38)	V385D	possibly damaging	Het
Pik3c2g	T	C	6: 139,737,007 (GRCm38)	L38P	probably damaging	Het
Pnpla6	A	G	8: 3,537,478 (GRCm38)	T1070A	probably damaging	Het
Ppl	T	C	16: 5,106,055 (GRCm38)	D185G	probably benign	Het
Prune1	A	T	3: 95,258,178 (GRCm38)	L261Q	probably damaging	Het
Qser1	A	T	2: 104,778,196 (GRCm38)	L1444I	probably damaging	Het
Serpina6	A	C	12: 103,654,467 (GRCm38)	C8G	probably damaging	Het
Sla2	A	T	2: 156,874,999 (GRCm38)	D180E	probably benign	Het
Slc4a4	C	T	5: 89,028,244 (GRCm38)	L25F	probably damaging	Het
Tbx3	A	G	5: 119,678,731 (GRCm38)	K311R	possibly damaging	Het
Thbs2	A	T	17: 14,689,837 (GRCm38)	C167S	probably damaging	Het
Trak1	T	A	9: 121,472,307 (GRCm38)	C710S	possibly damaging	Het
Tsks	G	A	7: 44,953,784 (GRCm38)	E337K	probably damaging	Het
Vcpip1	A	G	1: 9,746,379 (GRCm38)	I593T	probably damaging	Het
Vmn2r118	A	G	17: 55,592,765 (GRCm38)	I713T	possibly damaging	Het
Vmn2r23	C	T	6: 123,713,074 (GRCm38)	T303M	probably damaging	Het
Vmn2r68	A	T	7: 85,233,770 (GRCm38)	M258K	probably benign	Het
Vmn2r76	A	G	7: 86,245,994 (GRCm38)		probably null	Het
Wap	A	G	11: 6,638,609 (GRCm38)	I5T	possibly damaging	Het
Zfp235	A	C	7: 24,142,151 (GRCm38)	H665P	probably damaging	Het

Other mutations in Pkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Pkd1	APN	17	24,580,095 (GRCm38)	missense	probably damaging	1.00
IGL00503:Pkd1	APN	17	24,565,427 (GRCm38)	missense	probably benign
IGL00549:Pkd1	APN	17	24,572,761 (GRCm38)	missense	probably benign
IGL00573:Pkd1	APN	17	24,594,530 (GRCm38)	nonsense	probably null
IGL00924:Pkd1	APN	17	24,571,627 (GRCm38)	nonsense	probably null
IGL01319:Pkd1	APN	17	24,587,919 (GRCm38)	unclassified	probably benign
IGL01326:Pkd1	APN	17	24,576,174 (GRCm38)	nonsense	probably null
IGL01457:Pkd1	APN	17	24,594,821 (GRCm38)	splice site	probably null
IGL01541:Pkd1	APN	17	24,586,298 (GRCm38)	missense	probably damaging	1.00
IGL01575:Pkd1	APN	17	24,573,128 (GRCm38)	missense	probably damaging	1.00
IGL01606:Pkd1	APN	17	24,576,523 (GRCm38)	missense	probably damaging	0.97
IGL01642:Pkd1	APN	17	24,581,292 (GRCm38)	missense	probably damaging	1.00
IGL01888:Pkd1	APN	17	24,585,815 (GRCm38)	missense	possibly damaging	0.91
IGL01940:Pkd1	APN	17	24,579,746 (GRCm38)	missense	possibly damaging	0.63
IGL01958:Pkd1	APN	17	24,580,324 (GRCm38)	missense	probably damaging	1.00
IGL02005:Pkd1	APN	17	24,586,004 (GRCm38)	missense	possibly damaging	0.67
IGL02121:Pkd1	APN	17	24,575,927 (GRCm38)	missense	probably benign	0.03
IGL02148:Pkd1	APN	17	24,579,836 (GRCm38)	missense	probably damaging	1.00
IGL02409:Pkd1	APN	17	24,573,623 (GRCm38)	missense	probably benign	0.01
IGL02442:Pkd1	APN	17	24,565,226 (GRCm38)	missense	probably benign	0.41
IGL02498:Pkd1	APN	17	24,585,779 (GRCm38)	missense	possibly damaging	0.91
IGL02501:Pkd1	APN	17	24,569,699 (GRCm38)	missense	probably benign	0.01
IGL02551:Pkd1	APN	17	24,573,815 (GRCm38)	missense	probably damaging	1.00
IGL02635:Pkd1	APN	17	24,572,811 (GRCm38)	missense	probably damaging	1.00
IGL02673:Pkd1	APN	17	24,571,283 (GRCm38)	missense	probably benign	0.40
IGL02808:Pkd1	APN	17	24,593,504 (GRCm38)	missense	probably damaging	1.00
IGL02816:Pkd1	APN	17	24,594,515 (GRCm38)	missense	probably benign	0.00
IGL02863:Pkd1	APN	17	24,569,752 (GRCm38)	missense	possibly damaging	0.56
IGL02927:Pkd1	APN	17	24,575,189 (GRCm38)	missense	probably damaging	1.00
IGL02961:Pkd1	APN	17	24,578,115 (GRCm38)	missense	possibly damaging	0.81
IGL03003:Pkd1	APN	17	24,593,603 (GRCm38)	critical splice donor site	probably null
IGL03066:Pkd1	APN	17	24,586,234 (GRCm38)	missense	probably damaging	1.00
IGL03182:Pkd1	APN	17	24,573,818 (GRCm38)	missense	probably damaging	0.98
IGL03384:Pkd1	APN	17	24,565,897 (GRCm38)	missense	probably benign	0.00
IGL03404:Pkd1	APN	17	24,564,406 (GRCm38)	missense	probably damaging	0.97
PIT1430001:Pkd1	UTSW	17	24,569,511 (GRCm38)	missense	probably damaging	0.99
PIT4494001:Pkd1	UTSW	17	24,577,801 (GRCm38)	missense	probably damaging	1.00
PIT4677001:Pkd1	UTSW	17	24,574,029 (GRCm38)	missense	possibly damaging	0.94
R0017:Pkd1	UTSW	17	24,578,539 (GRCm38)	critical splice donor site	probably null
R0017:Pkd1	UTSW	17	24,578,539 (GRCm38)	critical splice donor site	probably null
R0022:Pkd1	UTSW	17	24,594,819 (GRCm38)	missense	probably damaging	0.98
R0022:Pkd1	UTSW	17	24,594,819 (GRCm38)	missense	probably damaging	0.98
R0058:Pkd1	UTSW	17	24,564,703 (GRCm38)	missense	probably benign	0.06
R0058:Pkd1	UTSW	17	24,564,703 (GRCm38)	missense	probably benign	0.06
R0085:Pkd1	UTSW	17	24,586,223 (GRCm38)	missense	probably damaging	0.98
R0094:Pkd1	UTSW	17	24,581,276 (GRCm38)	missense	possibly damaging	0.80
R0094:Pkd1	UTSW	17	24,581,276 (GRCm38)	missense	possibly damaging	0.80
R0135:Pkd1	UTSW	17	24,565,071 (GRCm38)	missense	possibly damaging	0.85
R0304:Pkd1	UTSW	17	24,585,946 (GRCm38)	missense	probably damaging	1.00
R0427:Pkd1	UTSW	17	24,593,502 (GRCm38)	missense	probably damaging	0.98
R0502:Pkd1	UTSW	17	24,574,792 (GRCm38)	missense	probably damaging	0.99
R0518:Pkd1	UTSW	17	24,595,219 (GRCm38)	missense	probably benign	0.01
R0521:Pkd1	UTSW	17	24,595,219 (GRCm38)	missense	probably benign	0.01
R0544:Pkd1	UTSW	17	24,585,683 (GRCm38)	missense	probably damaging	1.00
R0546:Pkd1	UTSW	17	24,580,138 (GRCm38)	missense	probably benign	0.44
R0626:Pkd1	UTSW	17	24,575,575 (GRCm38)	missense	probably damaging	0.96
R0648:Pkd1	UTSW	17	24,594,937 (GRCm38)	missense	probably damaging	1.00
R1138:Pkd1	UTSW	17	24,586,032 (GRCm38)	missense	probably damaging	1.00
R1302:Pkd1	UTSW	17	24,568,236 (GRCm38)	missense	probably benign	0.00
R1306:Pkd1	UTSW	17	24,573,172 (GRCm38)	missense	probably damaging	0.97
R1349:Pkd1	UTSW	17	24,575,266 (GRCm38)	missense	probably damaging	1.00
R1372:Pkd1	UTSW	17	24,575,266 (GRCm38)	missense	probably damaging	1.00
R1437:Pkd1	UTSW	17	24,595,132 (GRCm38)	missense	probably damaging	1.00
R1515:Pkd1	UTSW	17	24,594,853 (GRCm38)	missense	probably benign	0.01
R1605:Pkd1	UTSW	17	24,577,526 (GRCm38)	missense	possibly damaging	0.95
R1622:Pkd1	UTSW	17	24,581,640 (GRCm38)	missense	probably benign
R1623:Pkd1	UTSW	17	24,578,269 (GRCm38)	missense	probably damaging	0.99
R1726:Pkd1	UTSW	17	24,564,176 (GRCm38)	missense	probably damaging	0.96
R1756:Pkd1	UTSW	17	24,594,485 (GRCm38)	missense	probably damaging	1.00
R1780:Pkd1	UTSW	17	24,581,569 (GRCm38)	missense	probably benign
R1785:Pkd1	UTSW	17	24,591,099 (GRCm38)	missense	probably benign	0.00
R1829:Pkd1	UTSW	17	24,565,584 (GRCm38)	missense	probably benign
R1869:Pkd1	UTSW	17	24,594,931 (GRCm38)	missense	probably damaging	1.00
R1920:Pkd1	UTSW	17	24,595,157 (GRCm38)	missense	probably damaging	0.99
R1922:Pkd1	UTSW	17	24,595,157 (GRCm38)	missense	probably damaging	0.99
R1987:Pkd1	UTSW	17	24,576,592 (GRCm38)	splice site	probably null
R1988:Pkd1	UTSW	17	24,576,592 (GRCm38)	splice site	probably null
R1998:Pkd1	UTSW	17	24,573,014 (GRCm38)	missense	probably damaging	1.00
R2007:Pkd1	UTSW	17	24,579,785 (GRCm38)	missense	probably damaging	1.00
R2019:Pkd1	UTSW	17	24,568,684 (GRCm38)	nonsense	probably null
R2054:Pkd1	UTSW	17	24,574,796 (GRCm38)	missense	probably benign	0.00
R2061:Pkd1	UTSW	17	24,569,914 (GRCm38)	missense	possibly damaging	0.89
R2196:Pkd1	UTSW	17	24,580,072 (GRCm38)	missense	possibly damaging	0.60
R2203:Pkd1	UTSW	17	24,580,889 (GRCm38)	missense	probably benign	0.01
R2301:Pkd1	UTSW	17	24,574,612 (GRCm38)	missense	probably benign
R2655:Pkd1	UTSW	17	24,576,490 (GRCm38)	missense	probably damaging	0.99
R2860:Pkd1	UTSW	17	24,565,446 (GRCm38)	missense	probably benign	0.43
R2861:Pkd1	UTSW	17	24,565,446 (GRCm38)	missense	probably benign	0.43
R3000:Pkd1	UTSW	17	24,594,486 (GRCm38)	missense	probably damaging	1.00
R3150:Pkd1	UTSW	17	24,579,791 (GRCm38)	missense	probably benign	0.00
R3747:Pkd1	UTSW	17	24,591,461 (GRCm38)	missense	possibly damaging	0.67
R3812:Pkd1	UTSW	17	24,565,641 (GRCm38)	missense	probably benign	0.00
R3859:Pkd1	UTSW	17	24,578,092 (GRCm38)	splice site	probably benign
R3893:Pkd1	UTSW	17	24,572,110 (GRCm38)	critical splice donor site	probably null
R3947:Pkd1	UTSW	17	24,578,037 (GRCm38)	splice site	probably benign
R3949:Pkd1	UTSW	17	24,578,037 (GRCm38)	splice site	probably benign
R4176:Pkd1	UTSW	17	24,587,997 (GRCm38)	missense	probably benign	0.17
R4199:Pkd1	UTSW	17	24,570,030 (GRCm38)	missense	probably benign	0.41
R4225:Pkd1	UTSW	17	24,593,523 (GRCm38)	missense	possibly damaging	0.50
R4439:Pkd1	UTSW	17	24,585,692 (GRCm38)	missense	probably damaging	1.00
R4476:Pkd1	UTSW	17	24,576,526 (GRCm38)	missense	probably damaging	1.00
R4716:Pkd1	UTSW	17	24,576,133 (GRCm38)	missense	probably damaging	1.00
R4801:Pkd1	UTSW	17	24,578,096 (GRCm38)	missense	probably damaging	1.00
R4802:Pkd1	UTSW	17	24,578,096 (GRCm38)	missense	probably damaging	1.00
R4817:Pkd1	UTSW	17	24,565,374 (GRCm38)	splice site	probably null
R4903:Pkd1	UTSW	17	24,572,002 (GRCm38)	missense	probably benign	0.30
R4910:Pkd1	UTSW	17	24,572,687 (GRCm38)	missense	probably damaging	1.00
R4964:Pkd1	UTSW	17	24,586,068 (GRCm38)	critical splice donor site	probably null
R4966:Pkd1	UTSW	17	24,586,068 (GRCm38)	critical splice donor site	probably null
R5040:Pkd1	UTSW	17	24,571,260 (GRCm38)	missense	probably benign	0.02
R5042:Pkd1	UTSW	17	24,569,887 (GRCm38)	missense	probably benign	0.00
R5088:Pkd1	UTSW	17	24,590,838 (GRCm38)	missense	possibly damaging	0.94
R5121:Pkd1	UTSW	17	24,573,463 (GRCm38)	missense	probably benign
R5296:Pkd1	UTSW	17	24,576,074 (GRCm38)	missense	probably damaging	1.00
R5338:Pkd1	UTSW	17	24,594,536 (GRCm38)	missense	probably benign
R5356:Pkd1	UTSW	17	24,593,577 (GRCm38)	missense	probably damaging	0.97
R5357:Pkd1	UTSW	17	24,565,790 (GRCm38)	missense	probably damaging	1.00
R5363:Pkd1	UTSW	17	24,565,073 (GRCm38)	missense	probably benign
R5383:Pkd1	UTSW	17	24,574,375 (GRCm38)	missense	probably benign
R5622:Pkd1	UTSW	17	24,574,040 (GRCm38)	missense	possibly damaging	0.67
R5651:Pkd1	UTSW	17	24,591,387 (GRCm38)	missense	possibly damaging	0.88
R5723:Pkd1	UTSW	17	24,565,523 (GRCm38)	missense	probably benign	0.01
R5797:Pkd1	UTSW	17	24,592,641 (GRCm38)	missense	possibly damaging	0.55
R5838:Pkd1	UTSW	17	24,580,212 (GRCm38)	missense	possibly damaging	0.75
R5866:Pkd1	UTSW	17	24,580,961 (GRCm38)	missense	probably damaging	0.99
R5873:Pkd1	UTSW	17	24,569,830 (GRCm38)	missense	probably benign
R5906:Pkd1	UTSW	17	24,572,920 (GRCm38)	missense	probably benign	0.16
R6047:Pkd1	UTSW	17	24,595,085 (GRCm38)	missense	probably damaging	1.00
R6076:Pkd1	UTSW	17	24,581,030 (GRCm38)	missense	probably benign	0.14
R6151:Pkd1	UTSW	17	24,575,606 (GRCm38)	missense	probably benign	0.00
R6252:Pkd1	UTSW	17	24,581,226 (GRCm38)	missense	probably damaging	0.98
R6341:Pkd1	UTSW	17	24,580,227 (GRCm38)	missense	probably damaging	1.00
R6540:Pkd1	UTSW	17	24,575,977 (GRCm38)	missense	probably damaging	1.00
R6732:Pkd1	UTSW	17	24,569,413 (GRCm38)	missense	probably damaging	1.00
R6836:Pkd1	UTSW	17	24,581,259 (GRCm38)	missense	probably damaging	1.00
R6856:Pkd1	UTSW	17	24,573,493 (GRCm38)	missense	probably benign	0.05
R6865:Pkd1	UTSW	17	24,576,487 (GRCm38)	missense	probably benign	0.43
R6999:Pkd1	UTSW	17	24,578,501 (GRCm38)	missense	possibly damaging	0.62
R7077:Pkd1	UTSW	17	24,591,119 (GRCm38)	missense	probably damaging	1.00
R7123:Pkd1	UTSW	17	24,594,768 (GRCm38)	missense	possibly damaging	0.89
R7134:Pkd1	UTSW	17	24,594,112 (GRCm38)	missense	probably damaging	0.99
R7210:Pkd1	UTSW	17	24,575,866 (GRCm38)	missense	probably damaging	0.98
R7323:Pkd1	UTSW	17	24,575,051 (GRCm38)	missense	probably benign	0.01
R7380:Pkd1	UTSW	17	24,581,642 (GRCm38)	missense	probably damaging	1.00
R7407:Pkd1	UTSW	17	24,594,594 (GRCm38)	missense	probably damaging	1.00
R7410:Pkd1	UTSW	17	24,575,881 (GRCm38)	missense	probably damaging	1.00
R7492:Pkd1	UTSW	17	24,569,741 (GRCm38)	missense	probably benign	0.04
R7517:Pkd1	UTSW	17	24,580,419 (GRCm38)	missense	probably damaging	1.00
R7543:Pkd1	UTSW	17	24,595,253 (GRCm38)	missense	probably damaging	0.99
R7560:Pkd1	UTSW	17	24,573,631 (GRCm38)	missense	probably benign	0.33
R7615:Pkd1	UTSW	17	24,593,502 (GRCm38)	missense	probably damaging	0.98
R7714:Pkd1	UTSW	17	24,550,276 (GRCm38)	missense	unknown
R7718:Pkd1	UTSW	17	24,586,500 (GRCm38)	missense	probably benign	0.15
R7731:Pkd1	UTSW	17	24,573,898 (GRCm38)	missense	probably damaging	1.00
R7849:Pkd1	UTSW	17	24,586,200 (GRCm38)	missense	probably damaging	0.98
R7859:Pkd1	UTSW	17	24,571,280 (GRCm38)	missense	probably damaging	1.00
R7866:Pkd1	UTSW	17	24,590,907 (GRCm38)	missense	probably benign	0.26
R7915:Pkd1	UTSW	17	24,592,656 (GRCm38)	nonsense	probably null
R7991:Pkd1	UTSW	17	24,572,621 (GRCm38)	missense	possibly damaging	0.95
R8050:Pkd1	UTSW	17	24,565,643 (GRCm38)	missense	probably benign	0.26
R8086:Pkd1	UTSW	17	24,581,214 (GRCm38)	missense	probably damaging	1.00
R8312:Pkd1	UTSW	17	24,567,128 (GRCm38)	missense	probably benign	0.02
R8385:Pkd1	UTSW	17	24,575,728 (GRCm38)	missense	possibly damaging	0.67
R8393:Pkd1	UTSW	17	24,572,647 (GRCm38)	missense	probably damaging	0.99
R8552:Pkd1	UTSW	17	24,591,469 (GRCm38)	missense	probably damaging	1.00
R8753:Pkd1	UTSW	17	24,574,202 (GRCm38)	missense	probably damaging	1.00
R8822:Pkd1	UTSW	17	24,565,641 (GRCm38)	missense	probably benign	0.00
R8855:Pkd1	UTSW	17	24,573,077 (GRCm38)	missense	probably damaging	1.00
R8866:Pkd1	UTSW	17	24,573,077 (GRCm38)	missense	probably damaging	1.00
R8867:Pkd1	UTSW	17	24,573,833 (GRCm38)	missense	probably damaging	1.00
R8960:Pkd1	UTSW	17	24,576,202 (GRCm38)	missense	probably damaging	1.00
R8966:Pkd1	UTSW	17	24,575,777 (GRCm38)	missense	possibly damaging	0.69
R9004:Pkd1	UTSW	17	24,580,447 (GRCm38)	missense	probably benign
R9015:Pkd1	UTSW	17	24,565,662 (GRCm38)	nonsense	probably null
R9069:Pkd1	UTSW	17	24,573,014 (GRCm38)	missense	probably damaging	1.00
R9092:Pkd1	UTSW	17	24,569,373 (GRCm38)	missense	possibly damaging	0.93
R9135:Pkd1	UTSW	17	24,572,002 (GRCm38)	missense
R9307:Pkd1	UTSW	17	24,550,477 (GRCm38)	missense	possibly damaging	0.90
R9312:Pkd1	UTSW	17	24,578,390 (GRCm38)	missense	probably damaging	1.00
R9313:Pkd1	UTSW	17	24,594,958 (GRCm38)	missense	probably damaging	1.00
R9380:Pkd1	UTSW	17	24,550,288 (GRCm38)	missense	unknown
R9383:Pkd1	UTSW	17	24,575,926 (GRCm38)	missense	probably damaging	1.00
R9531:Pkd1	UTSW	17	24,573,140 (GRCm38)	missense	probably damaging	0.99
R9617:Pkd1	UTSW	17	24,581,367 (GRCm38)	missense	probably damaging	1.00
R9691:Pkd1	UTSW	17	24,577,838 (GRCm38)	missense	possibly damaging	0.77
R9792:Pkd1	UTSW	17	24,581,198 (GRCm38)	missense	probably benign
R9793:Pkd1	UTSW	17	24,581,198 (GRCm38)	missense	probably benign
X0024:Pkd1	UTSW	17	24,591,392 (GRCm38)	missense	possibly damaging	0.68
X0061:Pkd1	UTSW	17	24,594,931 (GRCm38)	missense	probably damaging	1.00
X0065:Pkd1	UTSW	17	24,586,164 (GRCm38)	missense	probably benign	0.19
Z1088:Pkd1	UTSW	17	24,565,605 (GRCm38)	missense	probably benign	0.44
Z1177:Pkd1	UTSW	17	24,575,491 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGCATGTCCCCTATATTACAATGTC -3'
(R):5'- GCTCTGTGACCAAAAGCAGC -3'

Sequencing Primer
(F):5'- AATGTCCTGTTTGACTCAGCCATG -3'
(R):5'- CTCTGTGACCAAAAGCAGCTGTAG -3'

Posted On

2016-11-09