Incidental Mutation 'R7867:Pkd2'
ID |
607830 |
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 |
045919-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7867 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104630986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 470
(F470S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
AlphaFold |
O35245 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086831
AA Change: F470S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084041 Gene: ENSMUSG00000034462 AA Change: F470S
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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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 |
Abca13 |
T |
A |
11: 9,212,139 (GRCm39) |
|
probably null |
Het |
Abcf1 |
C |
A |
17: 36,272,890 (GRCm39) |
K252N |
probably damaging |
Het |
Abi3 |
C |
T |
11: 95,724,851 (GRCm39) |
A211T |
possibly damaging |
Het |
Acaca |
A |
T |
11: 84,140,350 (GRCm39) |
D608V |
possibly damaging |
Het |
Akap10 |
A |
G |
11: 61,791,272 (GRCm39) |
Y396H |
probably damaging |
Het |
Ap3b1 |
C |
G |
13: 94,619,771 (GRCm39) |
S778W |
unknown |
Het |
Arb2a |
T |
C |
13: 78,050,837 (GRCm39) |
M165T |
probably benign |
Het |
Baat |
G |
A |
4: 49,502,925 (GRCm39) |
L66F |
probably benign |
Het |
Cachd1 |
A |
G |
4: 100,845,759 (GRCm39) |
N981S |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,753,407 (GRCm39) |
R243H |
|
Het |
Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
Cinp |
A |
G |
12: 110,840,557 (GRCm39) |
V198A |
probably benign |
Het |
Clec4d |
T |
C |
6: 123,244,123 (GRCm39) |
|
probably null |
Het |
Cnn3 |
A |
G |
3: 121,248,704 (GRCm39) |
I204V |
probably benign |
Het |
Cpxm2 |
C |
A |
7: 131,650,800 (GRCm39) |
G620V |
probably damaging |
Het |
Ctrl |
A |
C |
8: 106,659,497 (GRCm39) |
S93A |
probably benign |
Het |
Cyp2d34 |
A |
G |
15: 82,501,425 (GRCm39) |
V301A |
possibly damaging |
Het |
Dnaaf5 |
G |
T |
5: 139,147,565 (GRCm39) |
K376N |
probably damaging |
Het |
Eno2 |
C |
T |
6: 124,740,137 (GRCm39) |
D300N |
probably damaging |
Het |
Entrep3 |
T |
A |
3: 89,093,083 (GRCm39) |
Y280* |
probably null |
Het |
Fam117b |
T |
A |
1: 60,014,046 (GRCm39) |
N440K |
probably damaging |
Het |
Fam131a |
A |
G |
16: 20,514,584 (GRCm39) |
S62G |
probably benign |
Het |
Fancm |
T |
A |
12: 65,163,240 (GRCm39) |
|
probably null |
Het |
Fancm |
A |
G |
12: 65,165,173 (GRCm39) |
D1506G |
probably benign |
Het |
Fhad1 |
C |
A |
4: 141,632,902 (GRCm39) |
V1201L |
probably benign |
Het |
Gdpd4 |
T |
A |
7: 97,623,185 (GRCm39) |
C265* |
probably null |
Het |
Gm3127 |
A |
T |
14: 15,425,888 (GRCm39) |
T98S |
probably null |
Het |
Gpsm1 |
A |
T |
2: 26,230,448 (GRCm39) |
D466V |
probably benign |
Het |
Gramd1a |
T |
G |
7: 30,842,992 (GRCm39) |
K76Q |
probably damaging |
Het |
Gstp3 |
T |
C |
19: 4,108,808 (GRCm39) |
D24G |
probably damaging |
Het |
Kalrn |
G |
A |
16: 33,810,161 (GRCm39) |
T2531I |
possibly damaging |
Het |
Klk7 |
C |
A |
7: 43,462,333 (GRCm39) |
D108E |
probably damaging |
Het |
Klkb1 |
A |
G |
8: 45,740,002 (GRCm39) |
S97P |
probably damaging |
Het |
Krt13 |
T |
C |
11: 100,012,008 (GRCm39) |
D105G |
probably damaging |
Het |
Lingo2 |
T |
A |
4: 35,709,302 (GRCm39) |
H226L |
probably benign |
Het |
Lrba |
T |
C |
3: 86,275,896 (GRCm39) |
S1755P |
probably damaging |
Het |
Marf1 |
A |
G |
16: 13,946,470 (GRCm39) |
V1217A |
probably damaging |
Het |
Mtss1 |
A |
T |
15: 58,842,858 (GRCm39) |
V118E |
possibly damaging |
Het |
Mug1 |
T |
A |
6: 121,850,593 (GRCm39) |
D696E |
probably benign |
Het |
Ndufa3 |
C |
T |
7: 3,623,003 (GRCm39) |
P56L |
probably damaging |
Het |
Nop56 |
T |
A |
2: 130,120,205 (GRCm39) |
C471S |
possibly damaging |
Het |
Obscn |
T |
A |
11: 58,891,652 (GRCm39) |
H6960L |
unknown |
Het |
Or13a22 |
C |
T |
7: 140,073,049 (GRCm39) |
T166I |
probably benign |
Het |
Pcdhb10 |
A |
C |
18: 37,546,619 (GRCm39) |
Q565P |
probably benign |
Het |
Pde6g |
T |
A |
11: 120,338,953 (GRCm39) |
H79L |
possibly damaging |
Het |
Phrf1 |
G |
T |
7: 140,836,524 (GRCm39) |
M265I |
unknown |
Het |
Plekhm1 |
T |
A |
11: 103,271,153 (GRCm39) |
D446V |
probably damaging |
Het |
Prkaca |
A |
T |
8: 84,721,963 (GRCm39) |
T325S |
probably benign |
Het |
Proz |
A |
T |
8: 13,111,027 (GRCm39) |
|
probably benign |
Het |
Pten |
T |
C |
19: 32,792,894 (GRCm39) |
F238L |
probably benign |
Het |
Ptpn21 |
G |
A |
12: 98,671,435 (GRCm39) |
L198F |
probably damaging |
Het |
Rbm5 |
A |
T |
9: 107,628,930 (GRCm39) |
S394T |
probably benign |
Het |
Scaf8 |
T |
G |
17: 3,227,994 (GRCm39) |
S408A |
unknown |
Het |
Slc41a3 |
T |
A |
6: 90,617,909 (GRCm39) |
F312I |
probably damaging |
Het |
Soat2 |
T |
A |
15: 102,059,598 (GRCm39) |
|
probably null |
Het |
Sorcs1 |
C |
A |
19: 50,218,698 (GRCm39) |
G595* |
probably null |
Het |
Spopfm1 |
G |
C |
3: 94,173,154 (GRCm39) |
S50T |
probably benign |
Het |
Stox1 |
G |
T |
10: 62,500,723 (GRCm39) |
D612E |
probably benign |
Het |
Suco |
T |
C |
1: 161,665,365 (GRCm39) |
I530M |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,030,501 (GRCm39) |
|
probably null |
Het |
Thbd |
G |
A |
2: 148,249,664 (GRCm39) |
A68V |
probably damaging |
Het |
Tmem109 |
A |
T |
19: 10,855,466 (GRCm39) |
M4K |
unknown |
Het |
Tmub1 |
G |
C |
5: 24,651,664 (GRCm39) |
P85R |
possibly damaging |
Het |
Tnk2 |
A |
C |
16: 32,500,053 (GRCm39) |
Q1039H |
probably damaging |
Het |
Tpm3 |
T |
C |
3: 89,993,775 (GRCm39) |
L89S |
probably damaging |
Het |
Unc13b |
C |
T |
4: 43,232,573 (GRCm39) |
R432* |
probably null |
Het |
Vmn2r59 |
T |
A |
7: 41,661,707 (GRCm39) |
I703F |
probably damaging |
Het |
Xylt1 |
T |
A |
7: 117,074,749 (GRCm39) |
I122N |
probably benign |
Het |
Zc3h12c |
T |
C |
9: 52,055,248 (GRCm39) |
E187G |
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 |
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 |
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'- TCACCTCATAGTGCAGGGAC -3'
(R):5'- CGAAGACTACTAATTAGCAAGCTC -3'
Sequencing Primer
(F):5'- GGACTGACCAGACAGACTTCCTTTC -3'
(R):5'- TAGCAAGCTCTTAGAATACAGAAAGG -3'
|
Posted On |
2019-12-20 |