Incidental Mutation 'R9101:Pkd2'
| ID |
691678 |
| 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 |
068915-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9101 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104628230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 435
(C435S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
| AlphaFold |
O35245 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086831
AA Change: C435S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: C435S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (59/60) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
C |
12: 113,455,376 (GRCm39) |
V731A |
probably benign |
Het |
| Adamts7 |
T |
C |
9: 90,071,794 (GRCm39) |
|
probably null |
Het |
| Afdn |
T |
C |
17: 14,043,706 (GRCm39) |
V388A |
probably damaging |
Het |
| Alg3 |
A |
G |
16: 20,427,599 (GRCm39) |
Y113H |
possibly damaging |
Het |
| Aox1 |
C |
T |
1: 58,371,796 (GRCm39) |
P820L |
probably benign |
Het |
| Avil |
A |
G |
10: 126,852,873 (GRCm39) |
D731G |
probably benign |
Het |
| Blvra |
C |
T |
2: 126,927,890 (GRCm39) |
L47F |
probably damaging |
Het |
| Bmerb1 |
T |
A |
16: 13,867,259 (GRCm39) |
I39N |
probably damaging |
Het |
| Ccdc85c |
C |
A |
12: 108,240,917 (GRCm39) |
R159L |
unknown |
Het |
| Clcn2 |
T |
C |
16: 20,525,979 (GRCm39) |
D797G |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,532,738 (GRCm39) |
F619I |
possibly damaging |
Het |
| Dnajb1 |
C |
A |
8: 84,335,119 (GRCm39) |
D53E |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,852,839 (GRCm39) |
D89G |
probably damaging |
Het |
| Gck |
A |
G |
11: 5,856,516 (GRCm39) |
Y214H |
probably damaging |
Het |
| Gm9507 |
A |
G |
10: 77,647,650 (GRCm39) |
S10P |
unknown |
Het |
| Hacd2 |
G |
A |
16: 34,920,156 (GRCm39) |
V138I |
probably benign |
Het |
| Hhip |
A |
T |
8: 80,770,591 (GRCm39) |
V272D |
probably damaging |
Het |
| Hoga1 |
A |
C |
19: 42,048,347 (GRCm39) |
T72P |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,078,893 (GRCm39) |
G414S |
probably damaging |
Het |
| Klk1b5 |
T |
A |
7: 43,500,205 (GRCm39) |
D264E |
probably benign |
Het |
| Lars1 |
G |
A |
18: 42,376,942 (GRCm39) |
R205C |
probably damaging |
Het |
| Ly6a |
A |
T |
15: 74,869,419 (GRCm39) |
L12Q |
probably null |
Het |
| Mastl |
A |
G |
2: 23,008,449 (GRCm39) |
*866Q |
probably null |
Het |
| Mpzl3 |
T |
A |
9: 44,981,983 (GRCm39) |
M217K |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,929,935 (GRCm39) |
M7K |
probably benign |
Het |
| Mtarc2 |
T |
A |
1: 184,554,687 (GRCm39) |
R273W |
probably null |
Het |
| Nefh |
A |
G |
11: 4,890,925 (GRCm39) |
S565P |
probably damaging |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Nsd1 |
C |
T |
13: 55,461,359 (GRCm39) |
L2632F |
|
Het |
| Or10d1 |
T |
A |
9: 39,483,805 (GRCm39) |
Y250F |
probably benign |
Het |
| Or1a1b |
C |
T |
11: 74,097,322 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or4a71 |
A |
T |
2: 89,358,721 (GRCm39) |
I11N |
possibly damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,680 (GRCm39) |
F269I |
possibly damaging |
Het |
| Or51r1 |
T |
C |
7: 102,228,137 (GRCm39) |
V145A |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,694,523 (GRCm39) |
|
probably benign |
Het |
| Or5w18 |
T |
C |
2: 87,632,924 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdhga6 |
T |
C |
18: 37,841,393 (GRCm39) |
V371A |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,269,945 (GRCm39) |
K263E |
possibly damaging |
Het |
| Phf3 |
C |
T |
1: 30,843,026 (GRCm39) |
A1978T |
possibly damaging |
Het |
| Phykpl |
C |
A |
11: 51,483,741 (GRCm39) |
T207K |
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Pramel52-ps |
G |
A |
5: 94,531,899 (GRCm39) |
C261Y |
probably damaging |
Het |
| Prkra |
T |
A |
2: 76,478,184 (GRCm39) |
H6L |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,090,078 (GRCm39) |
K131E |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,035,255 (GRCm39) |
V762A |
probably benign |
Het |
| Prr27 |
C |
T |
5: 87,991,330 (GRCm39) |
T314I |
probably damaging |
Het |
| Ptges3 |
A |
G |
10: 127,907,998 (GRCm39) |
D116G |
possibly damaging |
Het |
| Rab11fip5 |
G |
T |
6: 85,317,675 (GRCm39) |
F1071L |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Slc45a3 |
T |
C |
1: 131,905,175 (GRCm39) |
V66A |
possibly damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,815,740 (GRCm39) |
D764V |
probably benign |
Het |
| Ten1 |
A |
G |
11: 116,096,562 (GRCm39) |
Y72C |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,745,186 (GRCm39) |
L1125S |
probably damaging |
Het |
| Thpo |
T |
A |
16: 20,544,557 (GRCm39) |
I159F |
possibly damaging |
Het |
| Tmppe |
T |
C |
9: 114,234,309 (GRCm39) |
S203P |
probably damaging |
Het |
| Ttc23l |
A |
T |
15: 10,537,661 (GRCm39) |
I203N |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,969,980 (GRCm39) |
L803P |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,794,471 (GRCm39) |
I733F |
|
Het |
| Xxylt1 |
T |
C |
16: 30,899,745 (GRCm39) |
N137D |
possibly damaging |
Het |
| Zc3h13 |
G |
A |
14: 75,561,042 (GRCm39) |
R544Q |
unknown |
Het |
| Zfhx4 |
C |
T |
3: 5,477,198 (GRCm39) |
T3271I |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,212,392 (GRCm39) |
C493S |
possibly damaging |
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 |
|
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 |
|
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'- TGAATGGGAGCAGTCACTGG -3'
(R):5'- CCTAAGGTGACAGGCTCTTATATCC -3'
Sequencing Primer
(F):5'- CAGTCACTGGGGGATCATTGC -3'
(R):5'- GTGACAGGCTCTTATATCCCTCCTC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation