Incidental Mutation 'R9541:Pkd2'
| ID |
719866 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9541 (G1)
|
| Quality Score |
177.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104607927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 142
(Y142C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
| AlphaFold |
O35245 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086831
AA Change: Y142C
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: Y142C
| 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: 99.1%
- 20x: 96.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,801,079 (GRCm39) |
I450V |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,607,724 (GRCm39) |
T13A |
probably benign |
Het |
| Adamts4 |
C |
A |
1: 171,084,695 (GRCm39) |
P644H |
probably damaging |
Het |
| Ak9 |
C |
T |
10: 41,243,173 (GRCm39) |
A689V |
|
Het |
| Ankhd1 |
G |
A |
18: 36,757,697 (GRCm39) |
S209N |
|
Het |
| Anks1b |
A |
T |
10: 90,412,947 (GRCm39) |
T32S |
probably benign |
Het |
| Atp13a4 |
G |
T |
16: 29,241,544 (GRCm39) |
T708K |
|
Het |
| B4gat1 |
C |
T |
19: 5,089,896 (GRCm39) |
P298S |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,439,438 (GRCm39) |
L583P |
possibly damaging |
Het |
| Ciart |
C |
A |
3: 95,788,527 (GRCm39) |
C104F |
possibly damaging |
Het |
| Coq5 |
T |
C |
5: 115,417,901 (GRCm39) |
S44P |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,899,872 (GRCm39) |
V1175A |
probably benign |
Het |
| Filip1 |
T |
A |
9: 79,727,135 (GRCm39) |
K495* |
probably null |
Het |
| Fscn2 |
G |
A |
11: 120,258,771 (GRCm39) |
V439M |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,754,416 (GRCm39) |
I2339V |
probably benign |
Het |
| Gmppa |
T |
A |
1: 75,417,094 (GRCm39) |
S176R |
probably damaging |
Het |
| Gpatch3 |
G |
A |
4: 133,305,595 (GRCm39) |
E277K |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,767,685 (GRCm39) |
D1082G |
probably damaging |
Het |
| Hdgfl2 |
T |
A |
17: 56,405,976 (GRCm39) |
D487E |
unknown |
Het |
| Ifna14 |
A |
T |
4: 88,490,010 (GRCm39) |
M9K |
probably null |
Het |
| Igkv4-81 |
A |
G |
6: 68,967,925 (GRCm39) |
Y59H |
|
Het |
| Il2rb |
T |
A |
15: 78,372,393 (GRCm39) |
N108I |
probably benign |
Het |
| Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
| Kdm5d |
T |
G |
Y: 910,801 (GRCm39) |
C304W |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,124,109 (GRCm39) |
I121T |
possibly damaging |
Het |
| Lmcd1 |
A |
T |
6: 112,306,824 (GRCm39) |
H332L |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,234,600 (GRCm39) |
D1117G |
|
Het |
| Med25 |
A |
G |
7: 44,541,267 (GRCm39) |
V82A |
possibly damaging |
Het |
| Mindy2 |
G |
A |
9: 70,512,508 (GRCm39) |
R581C |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,391,449 (GRCm39) |
T257A |
probably damaging |
Het |
| Myo1e |
A |
T |
9: 70,204,628 (GRCm39) |
Y76F |
probably damaging |
Het |
| Npas2 |
A |
T |
1: 39,377,194 (GRCm39) |
I519F |
possibly damaging |
Het |
| Or2h2c |
C |
T |
17: 37,422,824 (GRCm39) |
D17N |
probably benign |
Het |
| Or4f52 |
T |
A |
2: 111,061,275 (GRCm39) |
T288S |
probably damaging |
Het |
| Or5ak25 |
T |
A |
2: 85,269,025 (GRCm39) |
H159L |
possibly damaging |
Het |
| Otx1 |
A |
G |
11: 21,947,052 (GRCm39) |
F86L |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,780,616 (GRCm39) |
D1856G |
probably benign |
Het |
| Pcsk7 |
G |
A |
9: 45,820,768 (GRCm39) |
E67K |
probably benign |
Het |
| Ptpre |
A |
G |
7: 135,266,740 (GRCm39) |
D236G |
probably benign |
Het |
| Rasd2 |
T |
C |
8: 75,945,200 (GRCm39) |
C10R |
probably benign |
Het |
| Rd3 |
C |
A |
1: 191,717,294 (GRCm39) |
R140S |
possibly damaging |
Het |
| Rusc1 |
T |
G |
3: 88,998,922 (GRCm39) |
T287P |
possibly damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,749,084 (GRCm39) |
S78G |
probably damaging |
Het |
| Sltm |
A |
T |
9: 70,481,057 (GRCm39) |
H303L |
unknown |
Het |
| Syne4 |
G |
A |
7: 30,016,343 (GRCm39) |
V228I |
probably benign |
Het |
| Timm22 |
T |
A |
11: 76,300,641 (GRCm39) |
C138S |
possibly damaging |
Het |
| Trib2 |
T |
A |
12: 15,866,827 (GRCm39) |
I15L |
unknown |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tyro3 |
T |
C |
2: 119,642,589 (GRCm39) |
V591A |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,209 (GRCm39) |
V643A |
probably benign |
Het |
| Zfp281 |
G |
T |
1: 136,555,303 (GRCm39) |
Q760H |
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 |
|
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 |
|
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'- CATGGTTAACTCCAGACGCGTG -3'
(R):5'- AAGAGTCCGGATCTTACCTCGC -3'
Sequencing Primer
(F):5'- ATCGAGATGGAGCGCATC -3'
(R):5'- GGATCTTACCTCGCAGCCC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation