Incidental Mutation 'R2098:Pkd2'
| ID |
230362 |
| 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 |
040102-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2098 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104626768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 317
(P317S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
| AlphaFold |
O35245 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086831
AA Change: P317S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: P317S
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 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 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,927,405 (GRCm39) |
E1316G |
probably damaging |
Het |
| Arhgap32 |
C |
A |
9: 32,171,207 (GRCm39) |
T1329K |
probably damaging |
Het |
| Arhgef10l |
G |
C |
4: 140,306,743 (GRCm39) |
L104V |
probably damaging |
Het |
| Bend3 |
T |
C |
10: 43,386,500 (GRCm39) |
S298P |
probably damaging |
Het |
| Cacna1b |
C |
T |
2: 24,540,558 (GRCm39) |
V1385M |
probably damaging |
Het |
| Camk2d |
G |
A |
3: 126,574,091 (GRCm39) |
G166D |
probably damaging |
Het |
| Cd84 |
G |
A |
1: 171,713,148 (GRCm39) |
C291Y |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,863,457 (GRCm39) |
I113V |
probably benign |
Het |
| Cfap206 |
G |
A |
4: 34,719,053 (GRCm39) |
Q318* |
probably null |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Cyth1 |
T |
A |
11: 118,084,479 (GRCm39) |
I25F |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,216,279 (GRCm39) |
N1208K |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,609,832 (GRCm39) |
S203P |
probably damaging |
Het |
| Ehbp1l1 |
G |
T |
19: 5,758,686 (GRCm39) |
T1652K |
possibly damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,935,705 (GRCm39) |
|
probably null |
Het |
| Fam3d |
T |
C |
14: 8,361,479 (GRCm38) |
I47V |
probably benign |
Het |
| Gm10250 |
A |
G |
15: 5,150,296 (GRCm39) |
|
probably benign |
Het |
| Gm9772 |
T |
C |
17: 22,225,618 (GRCm39) |
H94R |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,247,420 (GRCm39) |
G1184D |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,906,043 (GRCm39) |
D255V |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,932,064 (GRCm39) |
H1651R |
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,167,464 (GRCm39) |
V385A |
possibly damaging |
Het |
| Mmp1b |
G |
A |
9: 7,386,984 (GRCm39) |
S76L |
probably benign |
Het |
| Mrps2 |
C |
A |
2: 28,358,327 (GRCm39) |
T39K |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,188,808 (GRCm39) |
Y715H |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,441,055 (GRCm39) |
E392G |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,960,817 (GRCm39) |
E3374K |
probably damaging |
Het |
| Or2a20 |
G |
A |
6: 43,194,437 (GRCm39) |
V197I |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,215 (GRCm39) |
I89F |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,478 (GRCm39) |
V137A |
probably benign |
Het |
| Or5w13 |
A |
T |
2: 87,524,073 (GRCm39) |
M51K |
probably benign |
Het |
| Prl5a1 |
T |
C |
13: 28,329,488 (GRCm39) |
S56P |
probably damaging |
Het |
| Psmd1 |
A |
G |
1: 86,009,823 (GRCm39) |
|
probably null |
Het |
| Ptchd3 |
T |
C |
11: 121,733,305 (GRCm39) |
C732R |
probably damaging |
Het |
| Rad51c |
A |
T |
11: 87,293,589 (GRCm39) |
V71E |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,621,560 (GRCm39) |
I619K |
possibly damaging |
Het |
| Sgpp1 |
T |
G |
12: 75,763,284 (GRCm39) |
D299A |
probably damaging |
Het |
| Slc16a4 |
C |
A |
3: 107,208,163 (GRCm39) |
Y224* |
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,378,175 (GRCm39) |
S167L |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,595,315 (GRCm39) |
I559T |
probably damaging |
Het |
| Spire1 |
A |
G |
18: 67,636,536 (GRCm39) |
F364L |
probably damaging |
Het |
| Srek1 |
G |
A |
13: 103,881,363 (GRCm39) |
T421I |
unknown |
Het |
| St8sia4 |
T |
C |
1: 95,581,253 (GRCm39) |
H163R |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,104,087 (GRCm39) |
|
probably null |
Het |
| Tas2r103 |
T |
C |
6: 133,013,560 (GRCm39) |
T169A |
probably benign |
Het |
| Thrap3 |
A |
G |
4: 126,073,823 (GRCm39) |
S308P |
probably damaging |
Het |
| V1rd19 |
C |
T |
7: 23,703,160 (GRCm39) |
L209F |
probably damaging |
Het |
| Zfp267 |
T |
A |
3: 36,220,289 (GRCm39) |
S771T |
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 |
|
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 |
|
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'- AACATAGACTCCCTCAGTACTTCTG -3'
(R):5'- AAAGTGAAACGCATGCGCTG -3'
Sequencing Primer
(F):5'- CTTGCTCTTATGATCCGGGTAGAAG -3'
(R):5'- CTGGGCATACGTCACAGATAAGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation