Incidental Mutation 'R7633:Trpv2'
ID 589770
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 045721-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.668) question?
Stock # R7633 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 62465312-62491131 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 62481832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000018651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018651] [ENSMUST00000102643]
AlphaFold Q9WTR1
Predicted Effect probably null
Transcript: ENSMUST00000018651
SMART Domains Protein: ENSMUSP00000018651
Gene: ENSMUSG00000018507

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000102643
SMART Domains Protein: ENSMUSP00000099703
Gene: ENSMUSG00000018507

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (52/52)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Acaca A G 11: 84,263,465 (GRCm39) I2029V probably benign Het
Anks1b A C 10: 90,784,446 (GRCm39) D1138A probably damaging Het
Atr T A 9: 95,829,171 (GRCm39) V2508E probably damaging Het
C4b C T 17: 34,948,373 (GRCm39) probably null Het
Calhm4 G A 10: 33,919,904 (GRCm39) T121M possibly damaging Het
Cd46 A T 1: 194,765,927 (GRCm39) M146K probably null Het
Chp1 A G 2: 119,391,226 (GRCm39) I28V probably benign Het
Chrnb1 T A 11: 69,683,699 (GRCm39) R216W probably damaging Het
Clmn G A 12: 104,748,371 (GRCm39) T392M probably benign Het
Cracd A G 5: 77,005,367 (GRCm39) E576G unknown Het
Dcxr A C 11: 120,617,279 (GRCm39) L88R probably benign Het
Dedd C T 1: 171,166,478 (GRCm39) P138L probably benign Het
Degs1 A G 1: 182,107,263 (GRCm39) S35P probably damaging Het
Ehmt1 T C 2: 24,705,792 (GRCm39) D851G possibly damaging Het
Fam117b A G 1: 60,020,693 (GRCm39) D521G probably damaging Het
Gm6882 A G 7: 21,161,577 (GRCm39) V97A probably damaging Het
Hgs A T 11: 120,365,128 (GRCm39) Q172L probably damaging Het
Hormad2 T C 11: 4,296,662 (GRCm39) Q274R probably benign Het
Igkv8-19 C T 6: 70,318,383 (GRCm39) probably benign Het
Ikbkb T C 8: 23,161,757 (GRCm39) N377S probably benign Het
Intu G A 3: 40,608,683 (GRCm39) G232S probably damaging Het
Lypd9 C A 11: 58,338,304 (GRCm39) M29I probably benign Het
Mov10 A G 3: 104,704,381 (GRCm39) S806P possibly damaging Het
Mrgprb1 A G 7: 48,097,331 (GRCm39) F194L probably benign Het
Notch3 A T 17: 32,377,596 (GRCm39) I160K probably benign Het
Nup155 C G 15: 8,138,937 (GRCm39) S3W probably damaging Het
Or4k41 A G 2: 111,279,967 (GRCm39) I161V probably benign Het
Or8s5 A G 15: 98,237,967 (GRCm39) I301T probably damaging Het
Plxdc1 A T 11: 97,846,977 (GRCm39) F147L possibly damaging Het
Ppfia1 T C 7: 144,106,173 (GRCm39) D33G possibly damaging Het
Prdm11 G A 2: 92,810,999 (GRCm39) A200V probably damaging Het
Qrich2 A T 11: 116,347,455 (GRCm39) I1123K unknown Het
Rgs1 A G 1: 144,124,215 (GRCm39) probably null Het
Skint7 T A 4: 111,841,337 (GRCm39) V259E probably benign Het
Slc25a3 A T 10: 90,953,904 (GRCm39) probably null Het
Slc28a2b A T 2: 122,317,161 (GRCm39) R7S probably null Het
Slco1a6 A T 6: 142,091,481 (GRCm39) I73N probably damaging Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smc4 CTA CTATA 3: 68,925,400 (GRCm39) probably benign Het
Spock2 G A 10: 59,962,002 (GRCm39) D206N probably damaging Het
Stard3nl T G 13: 19,552,008 (GRCm39) R185S probably damaging Het
Supt16 A G 14: 52,434,556 (GRCm39) Y18H probably benign Het
Synpo G A 18: 60,736,500 (GRCm39) T482I probably damaging Het
Tcstv7b G A 13: 120,702,376 (GRCm39) W57* probably null Het
Tmc6 G T 11: 117,660,046 (GRCm39) T694K probably benign Het
Trim59 T A 3: 68,945,259 (GRCm39) H27L probably damaging Het
Tyw5 A T 1: 57,432,644 (GRCm39) D117E probably benign Het
Usp17la T C 7: 104,510,354 (GRCm39) Y320H probably damaging Het
Usp31 T C 7: 121,258,185 (GRCm39) D694G probably damaging Het
Vmn1r159 T A 7: 22,542,448 (GRCm39) T195S probably damaging Het
Vmn2r57 C T 7: 41,074,513 (GRCm39) V517M possibly damaging Het
Yipf1 A G 4: 107,176,193 (GRCm39) N29S probably benign Het
Zfp954 A T 7: 7,118,823 (GRCm39) F240L possibly damaging Het
Other mutations in Trpv2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCGTGGGCAGCTAGTTACTG -3'
(R):5'- CTGCAGTGCCAGAAACACAG -3'

Sequencing Primer
(F):5'- CAGCTAGTTACTGGGGATGGGAC -3'
(R):5'- TCATAGCAGTAAGTGTGCCAG -3'
Posted On 2019-10-24