Incidental Mutation 'R6495:Pkd2'
| ID |
520418 |
| 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 |
044627-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6495 (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 104637159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 591
(C591S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
| AlphaFold |
O35245 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086831
AA Change: C591S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: C591S
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133540
|
| Meta Mutation Damage Score |
0.4489 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
T |
A |
12: 112,740,148 (GRCm39) |
E502V |
probably damaging |
Het |
| Apbb1ip |
T |
A |
2: 22,743,132 (GRCm39) |
Y321* |
probably null |
Het |
| Apob |
A |
G |
12: 8,040,394 (GRCm39) |
K577R |
probably null |
Het |
| Arfgef3 |
A |
G |
10: 18,486,950 (GRCm39) |
|
probably null |
Het |
| Asap3 |
T |
A |
4: 135,955,790 (GRCm39) |
|
probably null |
Het |
| Atp13a5 |
C |
T |
16: 29,140,440 (GRCm39) |
|
probably null |
Het |
| Bcan |
C |
A |
3: 87,903,904 (GRCm39) |
A194S |
possibly damaging |
Het |
| Cacybp |
T |
C |
1: 160,036,093 (GRCm39) |
T32A |
probably benign |
Het |
| Cd82 |
A |
G |
2: 93,260,357 (GRCm39) |
V90A |
probably benign |
Het |
| Chd5 |
C |
T |
4: 152,451,829 (GRCm39) |
R714C |
probably damaging |
Het |
| Cpb2 |
T |
C |
14: 75,512,519 (GRCm39) |
Y311H |
probably damaging |
Het |
| Cyp39a1 |
T |
C |
17: 44,002,585 (GRCm39) |
Y267H |
probably benign |
Het |
| Dnajc6 |
C |
T |
4: 101,492,262 (GRCm39) |
Q766* |
probably null |
Het |
| Dusp3 |
T |
C |
11: 101,872,653 (GRCm39) |
I48V |
probably benign |
Het |
| Eif3c |
A |
T |
7: 126,146,672 (GRCm39) |
F809I |
probably damaging |
Het |
| Exosc10 |
C |
T |
4: 148,647,329 (GRCm39) |
P213S |
probably benign |
Het |
| Galns |
C |
T |
8: 123,327,349 (GRCm39) |
G141D |
probably damaging |
Het |
| Gm3233 |
A |
T |
10: 77,594,886 (GRCm39) |
|
probably benign |
Het |
| Hadha |
A |
T |
5: 30,325,048 (GRCm39) |
L714H |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,198,763 (GRCm39) |
M123T |
probably damaging |
Het |
| Nt5dc1 |
A |
G |
10: 34,200,365 (GRCm39) |
L217P |
probably damaging |
Het |
| Nubp2 |
A |
T |
17: 25,104,577 (GRCm39) |
D54E |
probably damaging |
Het |
| Onecut1 |
C |
T |
9: 74,770,497 (GRCm39) |
R307C |
probably damaging |
Het |
| Or5b116 |
T |
A |
19: 13,422,989 (GRCm39) |
D204E |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,720 (GRCm39) |
Y170C |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,103,409 (GRCm39) |
N239S |
probably benign |
Het |
| Pwp2 |
A |
T |
10: 78,012,961 (GRCm39) |
V549E |
probably damaging |
Het |
| Rapsn |
A |
T |
2: 90,866,973 (GRCm39) |
S92C |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,257,745 (GRCm39) |
S90G |
probably damaging |
Het |
| Rfc1 |
G |
A |
5: 65,431,158 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
A |
15: 39,381,208 (GRCm39) |
F1046L |
probably benign |
Het |
| S100a16 |
C |
T |
3: 90,449,735 (GRCm39) |
R73C |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,089,928 (GRCm39) |
Y893H |
possibly damaging |
Het |
| Stt3b |
T |
A |
9: 115,096,388 (GRCm39) |
Y253F |
possibly damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,160 (GRCm39) |
*345Q |
probably null |
Het |
| Tas2r119 |
G |
A |
15: 32,177,676 (GRCm39) |
V81I |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,128 (GRCm39) |
I22V |
probably benign |
Het |
| Tbc1d19 |
T |
G |
5: 54,046,555 (GRCm39) |
|
probably null |
Het |
| Tnip3 |
A |
T |
6: 65,582,846 (GRCm39) |
I218F |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,307,120 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
T |
C |
8: 79,008,963 (GRCm39) |
Y278H |
possibly damaging |
Het |
| Tut7 |
T |
C |
13: 59,947,753 (GRCm39) |
E454G |
possibly damaging |
Het |
| Uba7 |
T |
A |
9: 107,854,213 (GRCm39) |
C214* |
probably null |
Het |
| Vmn2r115 |
A |
T |
17: 23,578,572 (GRCm39) |
I682F |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,287 (GRCm39) |
M505K |
probably benign |
Het |
| Wdr19 |
A |
T |
5: 65,415,466 (GRCm39) |
T1313S |
probably benign |
Het |
| Zbtb22 |
A |
G |
17: 34,136,224 (GRCm39) |
D123G |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,813,395 (GRCm39) |
I138T |
probably benign |
Het |
| Zfp706 |
T |
C |
15: 37,004,045 (GRCm39) |
K7R |
unknown |
Het |
| Zkscan3 |
G |
A |
13: 21,572,075 (GRCm39) |
P519L |
probably 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 |
|
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'- GAAAGGCTGTATTCTGACTCATCAAC -3'
(R):5'- TGGGCAATTTCATACATGTGC -3'
Sequencing Primer
(F):5'- TCTTCAGGGTGCCTCAAACAAATG -3'
(R):5'- CATACATGTGCAGAGAAATCTTTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation