Incidental Mutation 'R0316:Pkd2'
| ID |
34185 |
| 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 |
038526-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0316 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104625032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 276
(D276G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
| AlphaFold |
O35245 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086831
AA Change: D276G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: D276G
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.2%
|
| 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 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,888,765 (GRCm39) |
F276I |
probably damaging |
Het |
| Ado |
A |
G |
10: 67,384,548 (GRCm39) |
L19P |
possibly damaging |
Het |
| Ago2 |
T |
C |
15: 73,002,725 (GRCm39) |
H169R |
probably damaging |
Het |
| Asic1 |
G |
A |
15: 99,569,819 (GRCm39) |
A47T |
probably benign |
Het |
| Atg16l2 |
A |
T |
7: 100,942,603 (GRCm39) |
I364N |
probably damaging |
Het |
| C130050O18Rik |
G |
A |
5: 139,400,313 (GRCm39) |
R122Q |
probably damaging |
Het |
| Capn7 |
T |
A |
14: 31,069,766 (GRCm39) |
C197S |
probably benign |
Het |
| Casp16 |
T |
C |
17: 23,771,066 (GRCm39) |
D113G |
probably damaging |
Het |
| Cdh18 |
T |
A |
15: 23,366,999 (GRCm39) |
V235D |
probably damaging |
Het |
| Clca4a |
G |
T |
3: 144,659,525 (GRCm39) |
T777K |
probably damaging |
Het |
| Col17a1 |
A |
G |
19: 47,673,972 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
A |
9: 20,686,621 (GRCm39) |
D1335Y |
unknown |
Het |
| Cpxm1 |
T |
C |
2: 130,235,091 (GRCm39) |
E576G |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,253,808 (GRCm39) |
S182P |
probably damaging |
Het |
| Dclk1 |
C |
T |
3: 55,410,313 (GRCm39) |
S616L |
probably damaging |
Het |
| Dll4 |
C |
A |
2: 119,161,634 (GRCm39) |
D405E |
probably damaging |
Het |
| Dnah1 |
G |
A |
14: 31,000,108 (GRCm39) |
R2462C |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,564,882 (GRCm39) |
Y2594N |
possibly damaging |
Het |
| Ess2 |
G |
A |
16: 17,727,958 (GRCm39) |
P103S |
probably benign |
Het |
| Fam110a |
C |
A |
2: 151,812,006 (GRCm39) |
A255S |
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,246,397 (GRCm39) |
R502W |
probably damaging |
Het |
| Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
| Gm1527 |
T |
C |
3: 28,969,923 (GRCm39) |
S342P |
probably damaging |
Het |
| Gm19668 |
A |
T |
10: 77,634,564 (GRCm39) |
|
probably benign |
Het |
| Gm5901 |
A |
T |
7: 105,026,522 (GRCm39) |
T97S |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,547,420 (GRCm39) |
Y1546C |
probably damaging |
Het |
| Impg1 |
A |
T |
9: 80,249,347 (GRCm39) |
S619T |
probably damaging |
Het |
| Itih2 |
C |
A |
2: 10,110,057 (GRCm39) |
Q565H |
possibly damaging |
Het |
| Kbtbd6 |
T |
A |
14: 79,690,464 (GRCm39) |
N386K |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,652,934 (GRCm39) |
M218T |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,094,012 (GRCm39) |
S12G |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mex3d |
G |
T |
10: 80,217,505 (GRCm39) |
P571T |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,085,482 (GRCm39) |
Y1538D |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,361,584 (GRCm39) |
I184T |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5b99 |
T |
A |
19: 12,976,766 (GRCm39) |
C139S |
probably damaging |
Het |
| Or5w18 |
T |
C |
2: 87,633,525 (GRCm39) |
F264S |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,185,149 (GRCm39) |
|
silent |
Het |
| Pdcd11 |
T |
C |
19: 47,101,611 (GRCm39) |
V932A |
probably damaging |
Het |
| Pkia |
T |
A |
3: 7,502,499 (GRCm39) |
D25E |
probably damaging |
Het |
| Plxna2 |
A |
C |
1: 194,326,458 (GRCm39) |
S131R |
probably damaging |
Het |
| Prelid1 |
T |
C |
13: 55,472,220 (GRCm39) |
V132A |
possibly damaging |
Het |
| Psma3 |
T |
C |
12: 71,030,163 (GRCm39) |
Y59H |
probably benign |
Het |
| Ptchd3 |
A |
C |
11: 121,732,916 (GRCm39) |
E602A |
possibly damaging |
Het |
| Ptpro |
T |
C |
6: 137,353,987 (GRCm39) |
V121A |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,449,239 (GRCm39) |
L878P |
probably damaging |
Het |
| Pxn |
G |
A |
5: 115,692,027 (GRCm39) |
G370S |
probably damaging |
Het |
| Rcn2 |
G |
T |
9: 55,949,453 (GRCm39) |
A40S |
probably benign |
Het |
| Rnf215 |
A |
G |
11: 4,089,760 (GRCm39) |
N258D |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,423,622 (GRCm39) |
T28A |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,997,795 (GRCm39) |
V1100E |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,291,173 (GRCm39) |
I1858F |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,400,595 (GRCm39) |
R735Q |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Spata13 |
A |
G |
14: 60,929,788 (GRCm39) |
T449A |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,072,737 (GRCm39) |
W2191R |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 117,948,055 (GRCm39) |
R405H |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,948,137 (GRCm39) |
Y859H |
possibly damaging |
Het |
| Tonsl |
A |
G |
15: 76,513,500 (GRCm39) |
S1245P |
possibly damaging |
Het |
| Tpcn1 |
G |
A |
5: 120,677,324 (GRCm39) |
T661M |
probably damaging |
Het |
| Trap1 |
A |
G |
16: 3,863,424 (GRCm39) |
F533L |
probably benign |
Het |
| Ttc23 |
T |
C |
7: 67,328,821 (GRCm39) |
|
probably null |
Het |
| Vax2 |
T |
C |
6: 83,688,426 (GRCm39) |
S50P |
possibly damaging |
Het |
| Vmn1r5 |
A |
C |
6: 56,962,784 (GRCm39) |
E153A |
probably benign |
Het |
| Vmn2r14 |
G |
T |
5: 109,366,762 (GRCm39) |
P486Q |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,802,827 (GRCm39) |
F246I |
probably damaging |
Het |
| Zc3h10 |
C |
A |
10: 128,380,624 (GRCm39) |
E244D |
probably damaging |
Het |
| Zdhhc18 |
T |
A |
4: 133,340,966 (GRCm39) |
K265* |
probably null |
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 |
|
R0570:Pkd2
|
UTSW |
5 |
104,603,471 (GRCm39) |
unclassified |
probably benign |
|
|
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'- ACAATGTCTGCCTACCAGGAAGGG -3'
(R):5'- GCGGAAAGCACTTTCAGCGTTCTC -3'
Sequencing Primer
(F):5'- TCGTGGAGGCTGTGAGC -3'
(R):5'- GCGTTCTCCATGAATACTGAAGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation