Incidental Mutation 'IGL00557:Trpv2'
ID |
14609 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trpv2
|
Ensembl Gene |
ENSMUSG00000018507 |
Gene Name |
transient receptor potential cation channel, subfamily V, member 2 |
Synonyms |
Vrl1, OTRPC2, VRL-1 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.737)
|
Stock # |
IGL00557
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
62465312-62491131 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62483681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 506
(N506S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018651]
[ENSMUST00000102643]
|
AlphaFold |
Q9WTR1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018651
AA Change: N506S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000018651 Gene: ENSMUSG00000018507 AA Change: N506S
Domain | Start | End | E-Value | Type |
Blast:ANK
|
70 |
99 |
2e-8 |
BLAST |
ANK
|
111 |
143 |
9.33e2 |
SMART |
ANK
|
158 |
187 |
1.83e-3 |
SMART |
ANK
|
204 |
233 |
1.46e2 |
SMART |
Blast:ANK
|
241 |
274 |
1e-10 |
BLAST |
ANK
|
289 |
319 |
3.04e0 |
SMART |
Pfam:Ion_trans
|
387 |
652 |
2.3e-12 |
PFAM |
Blast:PHB
|
674 |
726 |
4e-19 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102643
AA Change: N506S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099703 Gene: ENSMUSG00000018507 AA Change: N506S
Domain | Start | End | E-Value | Type |
Blast:ANK
|
70 |
99 |
2e-8 |
BLAST |
ANK
|
111 |
143 |
9.33e2 |
SMART |
ANK
|
158 |
187 |
1.83e-3 |
SMART |
ANK
|
204 |
233 |
1.46e2 |
SMART |
Blast:ANK
|
241 |
274 |
1e-10 |
BLAST |
ANK
|
289 |
319 |
3.04e0 |
SMART |
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
434 |
640 |
8.9e-10 |
PFAM |
Blast:PHB
|
674 |
726 |
4e-19 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151195
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153486
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired macrophage migration, binding, and phagocytosis with increased susceptiblity and mortality following bacterial infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agpat3 |
A |
T |
10: 78,109,516 (GRCm39) |
|
probably benign |
Het |
Arhgap35 |
T |
C |
7: 16,298,340 (GRCm39) |
T242A |
probably benign |
Het |
Asb15 |
C |
A |
6: 24,558,649 (GRCm39) |
R55S |
probably benign |
Het |
Brca2 |
C |
T |
5: 150,484,003 (GRCm39) |
R2941W |
probably benign |
Het |
Chrng |
T |
C |
1: 87,134,469 (GRCm39) |
V135A |
probably damaging |
Het |
Corin |
G |
T |
5: 72,462,231 (GRCm39) |
H859Q |
probably damaging |
Het |
Cul7 |
A |
G |
17: 46,963,434 (GRCm39) |
E208G |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
Ell2 |
T |
A |
13: 75,904,409 (GRCm39) |
I166N |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,821,657 (GRCm39) |
R5797G |
possibly damaging |
Het |
Galntl6 |
T |
C |
8: 59,364,451 (GRCm39) |
I20V |
possibly damaging |
Het |
Glra2 |
A |
G |
X: 164,072,633 (GRCm39) |
F78L |
possibly damaging |
Het |
Gm12258 |
A |
G |
11: 58,746,896 (GRCm39) |
D51G |
probably benign |
Het |
Gsta2 |
T |
A |
9: 78,238,525 (GRCm39) |
K185* |
probably null |
Het |
Hmgcr |
C |
T |
13: 96,795,786 (GRCm39) |
D294N |
probably benign |
Het |
Iglv2 |
A |
G |
16: 19,079,547 (GRCm39) |
|
probably benign |
Het |
Myo10 |
T |
A |
15: 25,776,466 (GRCm39) |
L63H |
probably damaging |
Het |
P2ry10b |
T |
C |
X: 106,215,243 (GRCm39) |
V201A |
probably benign |
Het |
Psmb2 |
A |
G |
4: 126,571,642 (GRCm39) |
|
probably null |
Het |
Samd4 |
T |
A |
14: 47,290,355 (GRCm39) |
L154H |
probably damaging |
Het |
Sult2a4 |
A |
T |
7: 13,718,870 (GRCm39) |
D124E |
probably damaging |
Het |
Trav9-1 |
A |
T |
14: 53,725,815 (GRCm39) |
Y43F |
probably damaging |
Het |
Ube3c |
T |
C |
5: 29,824,227 (GRCm39) |
S474P |
probably damaging |
Het |
Wdr87-ps |
A |
G |
7: 29,235,227 (GRCm39) |
|
noncoding transcript |
Het |
Zfp942 |
A |
T |
17: 22,148,042 (GRCm39) |
C196S |
probably benign |
Het |
|
Other mutations in Trpv2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02223:Trpv2
|
APN |
11 |
62,472,081 (GRCm39) |
missense |
probably benign |
0.00 |
Playtar
|
UTSW |
11 |
62,481,086 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4576001:Trpv2
|
UTSW |
11 |
62,472,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Trpv2
|
UTSW |
11 |
62,481,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R0357:Trpv2
|
UTSW |
11 |
62,481,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R0506:Trpv2
|
UTSW |
11 |
62,473,732 (GRCm39) |
missense |
probably benign |
0.06 |
R0586:Trpv2
|
UTSW |
11 |
62,483,596 (GRCm39) |
missense |
probably benign |
0.01 |
R0690:Trpv2
|
UTSW |
11 |
62,475,502 (GRCm39) |
critical splice donor site |
probably null |
|
R1519:Trpv2
|
UTSW |
11 |
62,480,652 (GRCm39) |
critical splice donor site |
probably null |
|
R1556:Trpv2
|
UTSW |
11 |
62,483,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R1770:Trpv2
|
UTSW |
11 |
62,487,787 (GRCm39) |
missense |
probably benign |
0.12 |
R1772:Trpv2
|
UTSW |
11 |
62,485,052 (GRCm39) |
splice site |
probably benign |
|
R2143:Trpv2
|
UTSW |
11 |
62,483,612 (GRCm39) |
missense |
probably benign |
0.05 |
R4743:Trpv2
|
UTSW |
11 |
62,483,627 (GRCm39) |
missense |
probably benign |
0.00 |
R4795:Trpv2
|
UTSW |
11 |
62,472,006 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5321:Trpv2
|
UTSW |
11 |
62,475,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R6856:Trpv2
|
UTSW |
11 |
62,475,441 (GRCm39) |
missense |
probably benign |
0.00 |
R7024:Trpv2
|
UTSW |
11 |
62,475,287 (GRCm39) |
missense |
probably benign |
0.03 |
R7168:Trpv2
|
UTSW |
11 |
62,473,914 (GRCm39) |
missense |
probably benign |
0.19 |
R7488:Trpv2
|
UTSW |
11 |
62,480,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R7633:Trpv2
|
UTSW |
11 |
62,481,832 (GRCm39) |
critical splice donor site |
probably null |
|
R8215:Trpv2
|
UTSW |
11 |
62,481,757 (GRCm39) |
missense |
probably damaging |
0.99 |
R8878:Trpv2
|
UTSW |
11 |
62,481,112 (GRCm39) |
missense |
probably benign |
|
R9037:Trpv2
|
UTSW |
11 |
62,475,231 (GRCm39) |
missense |
probably damaging |
0.99 |
R9619:Trpv2
|
UTSW |
11 |
62,480,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R9664:Trpv2
|
UTSW |
11 |
62,475,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |