Incidental Mutation 'R2081:Pkd2'
ID |
229473 |
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 |
040086-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2081 (G1)
|
Quality Score |
167 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104608077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 192
(V192A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
AlphaFold |
O35245 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086831
AA Change: V192A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000084041 Gene: ENSMUSG00000034462 AA Change: V192A
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: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,211,085 (GRCm39) |
T28A |
possibly damaging |
Het |
Actl11 |
G |
A |
9: 107,807,396 (GRCm39) |
G573D |
probably benign |
Het |
Adam39 |
T |
A |
8: 41,279,879 (GRCm39) |
*757K |
probably null |
Het |
Agpat4 |
T |
C |
17: 12,370,771 (GRCm39) |
I38T |
possibly damaging |
Het |
Ap3d1 |
A |
C |
10: 80,568,770 (GRCm39) |
I36S |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,863,508 (GRCm39) |
F784L |
probably damaging |
Het |
Atg5lrt |
T |
C |
10: 95,972,601 (GRCm39) |
I46T |
possibly damaging |
Het |
Atp10b |
T |
A |
11: 43,092,955 (GRCm39) |
I430N |
probably damaging |
Het |
Atrip |
T |
A |
9: 108,901,807 (GRCm39) |
|
probably null |
Het |
C2cd4b |
G |
T |
9: 67,667,859 (GRCm39) |
R285L |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,228,699 (GRCm39) |
E711G |
probably benign |
Het |
Clcn6 |
T |
C |
4: 148,095,525 (GRCm39) |
Y685C |
probably damaging |
Het |
Col18a1 |
T |
A |
10: 76,890,019 (GRCm39) |
D1447V |
probably damaging |
Het |
Crispld1 |
T |
A |
1: 17,832,403 (GRCm39) |
V463D |
probably damaging |
Het |
Crybg2 |
T |
G |
4: 133,816,131 (GRCm39) |
F1612V |
possibly damaging |
Het |
Dclk1 |
T |
C |
3: 55,429,346 (GRCm39) |
|
probably null |
Het |
Ddx46 |
G |
T |
13: 55,821,829 (GRCm39) |
V834L |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,852,045 (GRCm39) |
D1734G |
possibly damaging |
Het |
Dpep1 |
T |
C |
8: 123,926,117 (GRCm39) |
V152A |
probably damaging |
Het |
Ect2l |
T |
C |
10: 18,041,275 (GRCm39) |
E301G |
probably damaging |
Het |
Elf3 |
C |
T |
1: 135,184,814 (GRCm39) |
C124Y |
probably benign |
Het |
Eno2 |
A |
G |
6: 124,740,088 (GRCm39) |
V316A |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,823,426 (GRCm39) |
E820G |
possibly damaging |
Het |
Evpl |
A |
T |
11: 116,125,092 (GRCm39) |
H123Q |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,200,503 (GRCm39) |
Y857F |
possibly damaging |
Het |
Fbrsl1 |
T |
A |
5: 110,519,491 (GRCm39) |
|
probably null |
Het |
Fbxw7 |
A |
G |
3: 84,881,820 (GRCm39) |
D432G |
probably damaging |
Het |
Flt1 |
A |
T |
5: 147,576,232 (GRCm39) |
L592Q |
probably damaging |
Het |
Gm14496 |
T |
A |
2: 181,642,272 (GRCm39) |
C648S |
probably damaging |
Het |
Gm5150 |
A |
T |
3: 16,045,109 (GRCm39) |
S39T |
probably benign |
Het |
Gse1 |
C |
A |
8: 121,293,219 (GRCm39) |
P177Q |
probably damaging |
Het |
Heatr4 |
G |
A |
12: 84,027,096 (GRCm39) |
R54W |
probably damaging |
Het |
Hpgd |
C |
A |
8: 56,760,677 (GRCm39) |
Q125K |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Mast2 |
A |
T |
4: 116,187,671 (GRCm39) |
|
probably null |
Het |
Mfsd11 |
A |
G |
11: 116,752,381 (GRCm39) |
T177A |
possibly damaging |
Het |
Mlx |
T |
C |
11: 100,978,257 (GRCm39) |
S36P |
probably benign |
Het |
Mlxipl |
T |
A |
5: 135,142,492 (GRCm39) |
V102D |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,536,150 (GRCm39) |
Y540H |
probably damaging |
Het |
Msc |
T |
C |
1: 14,825,941 (GRCm39) |
D11G |
probably benign |
Het |
Muc4 |
C |
G |
16: 32,574,020 (GRCm39) |
S699R |
probably benign |
Het |
Nckap1l |
T |
C |
15: 103,405,881 (GRCm39) |
S1106P |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,925,008 (GRCm39) |
E5703G |
possibly damaging |
Het |
Or2ag1 |
A |
G |
7: 106,313,405 (GRCm39) |
M161T |
probably benign |
Het |
Pabpn1 |
A |
G |
14: 55,133,115 (GRCm39) |
K38E |
probably damaging |
Het |
Padi3 |
A |
T |
4: 140,526,290 (GRCm39) |
L141Q |
probably damaging |
Het |
Pakap |
G |
A |
4: 57,855,927 (GRCm39) |
E419K |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,122,657 (GRCm39) |
N742D |
probably benign |
Het |
Pex1 |
T |
A |
5: 3,674,132 (GRCm39) |
|
probably null |
Het |
Ppp6r2 |
T |
A |
15: 89,166,332 (GRCm39) |
M750K |
probably benign |
Het |
Prdm15 |
A |
T |
16: 97,604,980 (GRCm39) |
Y783* |
probably null |
Het |
Prox2 |
T |
A |
12: 85,141,782 (GRCm39) |
Q140H |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,290,883 (GRCm39) |
I440K |
probably damaging |
Het |
Pzp |
A |
G |
6: 128,496,383 (GRCm39) |
M283T |
probably benign |
Het |
Sec23a |
G |
A |
12: 59,045,067 (GRCm39) |
Q192* |
probably null |
Het |
Sh2b1 |
A |
G |
7: 126,071,862 (GRCm39) |
S108P |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tkfc |
G |
A |
19: 10,574,742 (GRCm39) |
A166V |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,961,121 (GRCm39) |
V358A |
probably damaging |
Het |
Trim47 |
A |
G |
11: 115,997,239 (GRCm39) |
F505S |
probably damaging |
Het |
Tti2 |
T |
C |
8: 31,641,337 (GRCm39) |
F154L |
possibly damaging |
Het |
Ubap2l |
C |
T |
3: 89,946,271 (GRCm39) |
G111D |
possibly damaging |
Het |
Usp9y |
A |
T |
Y: 1,381,277 (GRCm39) |
I848N |
possibly damaging |
Het |
Veph1 |
T |
C |
3: 65,968,523 (GRCm39) |
Y740C |
probably damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,510,083 (GRCm39) |
H799L |
possibly damaging |
Het |
Wdr31 |
T |
A |
4: 62,374,180 (GRCm39) |
M270L |
probably benign |
Het |
Zfp26 |
A |
G |
9: 20,347,913 (GRCm39) |
S884P |
probably benign |
Het |
Zswim6 |
T |
A |
13: 107,909,930 (GRCm39) |
|
noncoding transcript |
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 |
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'- GACAACCCGGGCTTTGAGG -3'
(R):5'- ATCGCGCCGAATTAGAGGAG -3'
Sequencing Primer
(F):5'- CGGGCTTTGAGGCAGAG -3'
(R):5'- AGTTAGGGAAGGCGCTCTG -3'
|
Posted On |
2014-09-17 |