Incidental Mutation 'R5321:Trpv2'
| ID |
406115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpv2
|
| Ensembl Gene |
ENSMUSG00000018507 |
| Gene Name |
transient receptor potential cation channel, subfamily V, member 2 |
| Synonyms |
Vrl1, OTRPC2, VRL-1 |
| MMRRC Submission |
042904-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.737)
|
| Stock # |
R5321 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
62465312-62491131 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62475397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 270
(L270H)
|
| 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: L270H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018651
Gene: ENSMUSG00000018507
AA Change: L270H
| 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: L270H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099703
Gene: ENSMUSG00000018507
AA Change: L270H
| 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: ENSMUST00000130569
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153486
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,218,651 (GRCm39) |
F72L |
probably benign |
Het |
| Btrc |
G |
A |
19: 45,496,197 (GRCm39) |
V211M |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,664 (GRCm39) |
Y1081N |
unknown |
Het |
| Cryzl1 |
T |
C |
16: 91,504,118 (GRCm39) |
Y109C |
probably benign |
Het |
| Dlec1 |
T |
A |
9: 118,941,669 (GRCm39) |
S352T |
probably benign |
Het |
| Dzip3 |
T |
G |
16: 48,778,038 (GRCm39) |
T349P |
possibly damaging |
Het |
| Endou |
A |
G |
15: 97,618,913 (GRCm39) |
V37A |
probably damaging |
Het |
| Exosc1 |
A |
T |
19: 41,912,499 (GRCm39) |
C129* |
probably null |
Het |
| Flywch1 |
C |
G |
17: 23,975,625 (GRCm39) |
R539P |
probably damaging |
Het |
| Gm14410 |
G |
A |
2: 176,885,298 (GRCm39) |
T322I |
probably damaging |
Het |
| Lcor |
G |
T |
19: 41,573,643 (GRCm39) |
W799C |
probably damaging |
Het |
| Lpin2 |
G |
A |
17: 71,553,853 (GRCm39) |
V857M |
probably damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,389,862 (GRCm39) |
N195S |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,898,785 (GRCm39) |
Q160R |
probably damaging |
Het |
| Phtf1 |
C |
T |
3: 103,910,827 (GRCm39) |
T606I |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Scrt1 |
T |
C |
15: 76,403,370 (GRCm39) |
S207G |
unknown |
Het |
| Slc15a5 |
G |
T |
6: 137,964,436 (GRCm39) |
N496K |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 23,996,614 (GRCm39) |
I40F |
possibly damaging |
Het |
| Tdrd12 |
A |
C |
7: 35,177,519 (GRCm39) |
V945G |
probably damaging |
Het |
| Tdrkh |
C |
A |
3: 94,332,965 (GRCm39) |
L169I |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,865 (GRCm39) |
C35R |
probably damaging |
Het |
| Tpte |
A |
T |
8: 22,787,219 (GRCm39) |
R33* |
probably null |
Het |
| Utp18 |
A |
G |
11: 93,757,260 (GRCm39) |
L468P |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,844,805 (GRCm39) |
I51T |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,427 (GRCm39) |
S251L |
probably benign |
Het |
| Vmn1r24 |
A |
T |
6: 57,933,182 (GRCm39) |
L112* |
probably null |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,592 (GRCm39) |
L89P |
probably damaging |
Het |
| Vmn2r10 |
G |
T |
5: 109,143,505 (GRCm39) |
A815E |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,595 (GRCm39) |
L416H |
probably damaging |
Het |
|
| Other mutations in Trpv2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00557:Trpv2
|
APN |
11 |
62,483,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTACCTCTTTCTCTGGCAG -3'
(R):5'- GTTGCACTCAGTTAAACAAGGC -3'
Sequencing Primer
(F):5'- TTTCTCTGGCAGCGTGC -3'
(R):5'- TAATGAAGGGTCCAGCGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation