Incidental Mutation 'R0570:Pkd2'
| ID |
46365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd2
|
| Ensembl Gene |
ENSMUSG00000034462 |
| Gene Name |
polycystin 2, transient receptor potential cation channel |
| Synonyms |
TRPP2, polycystin-2, C030034P18Rik, PC2 |
| MMRRC Submission |
038761-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0570 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 104603471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
| AlphaFold |
O35245 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000069263
AA Change: I86L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086831
|
| SMART Domains |
Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
138 |
N/A |
INTRINSIC |
|
transmembrane domain
|
225 |
247 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
265 |
685 |
1.3e-171 |
PFAM |
|
Pfam:Ion_trans
|
454 |
690 |
2.6e-25 |
PFAM |
|
coiled coil region
|
765 |
794 |
N/A |
INTRINSIC |
|
PDB:3HRN|A
|
834 |
893 |
8e-31 |
PDB |
|
low complexity region
|
900 |
915 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
963 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130931
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (85/85) |
| 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 protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in cardiac septation, kidney and pancreatic cysts, impaired left-right axis determination, and late-gestation lethality. Heterozygotes show kidney and liver lesions and have reduced longevity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
C |
A |
8: 84,729,733 (GRCm39) |
|
probably benign |
Het |
| Aadacl3 |
C |
T |
4: 144,190,130 (GRCm39) |
W57* |
probably null |
Het |
| Abca2 |
G |
T |
2: 25,337,417 (GRCm39) |
|
probably null |
Het |
| Abca3 |
A |
G |
17: 24,593,373 (GRCm39) |
I257V |
probably benign |
Het |
| Adamts2 |
A |
G |
11: 50,666,963 (GRCm39) |
D420G |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,696,135 (GRCm39) |
F341L |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,062 (GRCm39) |
D4115E |
probably damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,751,751 (GRCm39) |
S365P |
possibly damaging |
Het |
| Atrn |
G |
A |
2: 130,822,054 (GRCm39) |
V916I |
probably benign |
Het |
| Blmh |
T |
C |
11: 76,856,651 (GRCm39) |
V82A |
probably damaging |
Het |
| C1ra |
A |
T |
6: 124,490,664 (GRCm39) |
Y19F |
probably benign |
Het |
| Cactin |
A |
G |
10: 81,159,067 (GRCm39) |
E306G |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,787,566 (GRCm39) |
R2724Q |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,631,110 (GRCm39) |
E250G |
probably benign |
Het |
| Col17a1 |
A |
T |
19: 47,654,317 (GRCm39) |
S647T |
possibly damaging |
Het |
| Cope |
T |
A |
8: 70,759,181 (GRCm39) |
D74E |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,403,435 (GRCm39) |
I198T |
probably damaging |
Het |
| Elfn2 |
T |
C |
15: 78,557,434 (GRCm39) |
N371S |
probably damaging |
Het |
| Elmo2 |
G |
T |
2: 165,146,839 (GRCm39) |
A246D |
probably benign |
Het |
| Ewsr1 |
A |
T |
11: 5,035,935 (GRCm39) |
M187K |
possibly damaging |
Het |
| Faap100 |
A |
T |
11: 120,265,114 (GRCm39) |
S587R |
possibly damaging |
Het |
| Fam234b |
C |
T |
6: 135,186,247 (GRCm39) |
S85L |
probably benign |
Het |
| Fanca |
A |
T |
8: 124,033,169 (GRCm39) |
S292R |
probably benign |
Het |
| Fanci |
G |
A |
7: 79,093,711 (GRCm39) |
C1021Y |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 25,245,640 (GRCm39) |
I1230T |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,536,456 (GRCm39) |
L27S |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,502,031 (GRCm39) |
V147A |
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,583,301 (GRCm39) |
Y309C |
probably damaging |
Het |
| Foxb1 |
T |
C |
9: 69,666,844 (GRCm39) |
T229A |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,618,552 (GRCm39) |
Y274H |
probably damaging |
Het |
| Gbp8 |
T |
C |
5: 105,165,541 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,730,480 (GRCm39) |
L888Q |
probably damaging |
Het |
| Gm17490 |
T |
C |
2: 11,630,460 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
T |
A |
5: 134,237,785 (GRCm39) |
|
probably null |
Het |
| H2-Q1 |
A |
G |
17: 35,540,373 (GRCm39) |
T153A |
possibly damaging |
Het |
| Ina |
A |
C |
19: 47,011,938 (GRCm39) |
E452A |
probably benign |
Het |
| Kars1 |
A |
G |
8: 112,721,494 (GRCm39) |
|
probably null |
Het |
| Kif1c |
A |
G |
11: 70,595,291 (GRCm39) |
E124G |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,745,944 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,390,878 (GRCm39) |
C3006* |
probably null |
Het |
| Lyst |
T |
C |
13: 13,883,971 (GRCm39) |
L2953P |
probably benign |
Het |
| Mb21d2 |
G |
A |
16: 28,748,324 (GRCm39) |
A31V |
probably benign |
Het |
| Melk |
T |
C |
4: 44,308,906 (GRCm39) |
Y88H |
probably damaging |
Het |
| Myrf |
A |
G |
19: 10,189,161 (GRCm39) |
S857P |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,826,187 (GRCm39) |
I153M |
possibly damaging |
Het |
| Or4n4 |
T |
G |
14: 50,519,370 (GRCm39) |
L113F |
probably benign |
Het |
| Otof |
A |
G |
5: 30,529,225 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
A |
G |
2: 121,955,789 (GRCm39) |
V249A |
probably damaging |
Het |
| Pcgf5 |
A |
G |
19: 36,389,580 (GRCm39) |
Y19C |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,247,941 (GRCm39) |
V951E |
probably damaging |
Het |
| Pcolce2 |
T |
C |
9: 95,520,710 (GRCm39) |
V29A |
probably benign |
Het |
| Pdgfrb |
A |
T |
18: 61,210,775 (GRCm39) |
M761L |
probably benign |
Het |
| Pi16 |
A |
T |
17: 29,538,189 (GRCm39) |
M1L |
possibly damaging |
Het |
| Plcb2 |
A |
G |
2: 118,547,806 (GRCm39) |
W474R |
probably benign |
Het |
| Psapl1 |
A |
G |
5: 36,361,624 (GRCm39) |
D72G |
possibly damaging |
Het |
| Ptpn5 |
T |
A |
7: 46,728,681 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,215,896 (GRCm38) |
E1115G |
probably damaging |
Het |
| Rassf1 |
C |
T |
9: 107,435,165 (GRCm39) |
T224I |
probably damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,566,476 (GRCm39) |
C168* |
probably null |
Het |
| Rhag |
A |
G |
17: 41,139,804 (GRCm39) |
|
probably benign |
Het |
| Rhebl1 |
C |
T |
15: 98,779,034 (GRCm39) |
V17I |
probably benign |
Het |
| Rnf130 |
A |
T |
11: 49,986,703 (GRCm39) |
D349V |
possibly damaging |
Het |
| Rprd1a |
A |
G |
18: 24,642,952 (GRCm39) |
L60P |
probably damaging |
Het |
| Rspry1 |
T |
C |
8: 95,356,420 (GRCm39) |
I25T |
probably damaging |
Het |
| Ruvbl2 |
C |
T |
7: 45,071,621 (GRCm39) |
V421M |
probably damaging |
Het |
| Sap30 |
T |
C |
8: 57,936,000 (GRCm39) |
N209D |
possibly damaging |
Het |
| Sfswap |
T |
C |
5: 129,581,042 (GRCm39) |
|
probably benign |
Het |
| Slc1a2 |
G |
A |
2: 102,586,352 (GRCm39) |
V319M |
probably damaging |
Het |
| Smad2 |
T |
C |
18: 76,422,250 (GRCm39) |
|
probably benign |
Het |
| Spdya |
T |
C |
17: 71,869,585 (GRCm39) |
|
probably null |
Het |
| Stk39 |
G |
A |
2: 68,240,392 (GRCm39) |
T113M |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,626,382 (GRCm39) |
|
probably benign |
Het |
| Tas2r122 |
T |
C |
6: 132,688,774 (GRCm39) |
K40E |
probably damaging |
Het |
| Tph2 |
G |
T |
10: 115,010,039 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
G |
A |
1: 84,729,269 (GRCm39) |
S1083F |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,845,701 (GRCm39) |
C206S |
probably damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,760,681 (GRCm39) |
Q34R |
possibly damaging |
Het |
| Uroc1 |
G |
T |
6: 90,315,546 (GRCm39) |
M142I |
possibly damaging |
Het |
| Uso1 |
T |
C |
5: 92,347,682 (GRCm39) |
S766P |
probably benign |
Het |
| Usp21 |
G |
A |
1: 171,111,319 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,360,437 (GRCm39) |
I658K |
possibly damaging |
Het |
| Vmn1r206 |
T |
C |
13: 22,804,583 (GRCm39) |
H208R |
probably damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,760,937 (GRCm39) |
A807T |
probably damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,379 (GRCm39) |
C382S |
probably damaging |
Het |
| Zfp341 |
A |
G |
2: 154,487,988 (GRCm39) |
E817G |
probably benign |
Het |
|
| Other mutations in Pkd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Pkd2
|
APN |
5 |
104,631,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01527:Pkd2
|
APN |
5 |
104,646,750 (GRCm39) |
splice site |
probably benign |
|
|
IGL01805:Pkd2
|
APN |
5 |
104,630,959 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02146:Pkd2
|
APN |
5 |
104,637,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02326:Pkd2
|
APN |
5 |
104,624,941 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02481:Pkd2
|
APN |
5 |
104,634,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02952:Pkd2
|
APN |
5 |
104,628,026 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03026:Pkd2
|
APN |
5 |
104,642,753 (GRCm39) |
splice site |
probably benign |
|
|
IGL03409:Pkd2
|
APN |
5 |
104,637,215 (GRCm39) |
nonsense |
probably null |
|
|
Nephro
|
UTSW |
5 |
104,634,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
reggae
|
UTSW |
5 |
104,625,045 (GRCm39) |
splice site |
probably null |
|
|
samba
|
UTSW |
5 |
104,624,989 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02988:Pkd2
|
UTSW |
5 |
104,651,471 (GRCm39) |
nonsense |
probably null |
|
|
PIT1430001:Pkd2
|
UTSW |
5 |
104,607,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0020:Pkd2
|
UTSW |
5 |
104,651,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Pkd2
|
UTSW |
5 |
104,651,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Pkd2
|
UTSW |
5 |
104,603,671 (GRCm39) |
unclassified |
probably benign |
|
|
R0070:Pkd2
|
UTSW |
5 |
104,614,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0070:Pkd2
|
UTSW |
5 |
104,614,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0315:Pkd2
|
UTSW |
5 |
104,607,716 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0316:Pkd2
|
UTSW |
5 |
104,625,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1277:Pkd2
|
UTSW |
5 |
104,650,225 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1883:Pkd2
|
UTSW |
5 |
104,631,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Pkd2
|
UTSW |
5 |
104,634,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Pkd2
|
UTSW |
5 |
104,626,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Pkd2
|
UTSW |
5 |
104,614,744 (GRCm39) |
splice site |
probably null |
|
|
R2080:Pkd2
|
UTSW |
5 |
104,624,989 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2081:Pkd2
|
UTSW |
5 |
104,608,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2098:Pkd2
|
UTSW |
5 |
104,626,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Pkd2
|
UTSW |
5 |
104,631,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Pkd2
|
UTSW |
5 |
104,603,456 (GRCm39) |
unclassified |
probably benign |
|
|
R2163:Pkd2
|
UTSW |
5 |
104,603,543 (GRCm39) |
unclassified |
probably benign |
|
|
R3401:Pkd2
|
UTSW |
5 |
104,628,193 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3732:Pkd2
|
UTSW |
5 |
104,637,285 (GRCm39) |
splice site |
probably null |
|
|
R3733:Pkd2
|
UTSW |
5 |
104,637,285 (GRCm39) |
splice site |
probably null |
|
|
R4409:Pkd2
|
UTSW |
5 |
104,614,750 (GRCm39) |
splice site |
silent |
|
|
R4582:Pkd2
|
UTSW |
5 |
104,650,210 (GRCm39) |
nonsense |
probably null |
|
|
R5189:Pkd2
|
UTSW |
5 |
104,607,785 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5191:Pkd2
|
UTSW |
5 |
104,634,547 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5195:Pkd2
|
UTSW |
5 |
104,634,547 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5198:Pkd2
|
UTSW |
5 |
104,630,958 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5326:Pkd2
|
UTSW |
5 |
104,634,515 (GRCm39) |
splice site |
silent |
|
|
R5406:Pkd2
|
UTSW |
5 |
104,628,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Pkd2
|
UTSW |
5 |
104,634,515 (GRCm39) |
splice site |
silent |
|
|
R5543:Pkd2
|
UTSW |
5 |
104,637,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5633:Pkd2
|
UTSW |
5 |
104,646,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5887:Pkd2
|
UTSW |
5 |
104,646,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Pkd2
|
UTSW |
5 |
104,625,045 (GRCm39) |
splice site |
probably null |
|
|
R5924:Pkd2
|
UTSW |
5 |
104,646,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6361:Pkd2
|
UTSW |
5 |
104,634,546 (GRCm39) |
nonsense |
probably null |
|
|
R6455:Pkd2
|
UTSW |
5 |
104,607,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6495:Pkd2
|
UTSW |
5 |
104,637,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6735:Pkd2
|
UTSW |
5 |
104,628,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6837:Pkd2
|
UTSW |
5 |
104,624,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7192:Pkd2
|
UTSW |
5 |
104,634,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7477:Pkd2
|
UTSW |
5 |
104,631,108 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7560:Pkd2
|
UTSW |
5 |
104,628,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Pkd2
|
UTSW |
5 |
104,630,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Pkd2
|
UTSW |
5 |
104,628,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8251:Pkd2
|
UTSW |
5 |
104,646,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8360:Pkd2
|
UTSW |
5 |
104,607,653 (GRCm39) |
nonsense |
probably null |
|
|
R8368:Pkd2
|
UTSW |
5 |
104,607,653 (GRCm39) |
nonsense |
probably null |
|
|
R8526:Pkd2
|
UTSW |
5 |
104,637,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Pkd2
|
UTSW |
5 |
104,637,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Pkd2
|
UTSW |
5 |
104,631,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Pkd2
|
UTSW |
5 |
104,628,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Pkd2
|
UTSW |
5 |
104,626,959 (GRCm39) |
splice site |
probably null |
|
|
R9452:Pkd2
|
UTSW |
5 |
104,614,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9459:Pkd2
|
UTSW |
5 |
104,614,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Pkd2
|
UTSW |
5 |
104,607,927 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9671:Pkd2
|
UTSW |
5 |
104,637,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Pkd2
|
UTSW |
5 |
104,626,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9737:Pkd2
|
UTSW |
5 |
104,651,349 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1088:Pkd2
|
UTSW |
5 |
104,646,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pkd2
|
UTSW |
5 |
104,607,915 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATCAACTGAGCCTTCTATGATGTG -3'
(R):5'- TTTCCAACTAGAAGACAACTGGGCAC -3'
Sequencing Primer
(F):5'- AGCCTTCTATGATGTGGTCTTAC -3'
(R):5'- CAACTGGGCACTGAAGAATATG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation