Incidental Mutation 'R0357:Trpv2'
ID 29894
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 038563-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.756) question?
Stock # R0357 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 62574486-62600515 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 62590304 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 410 (P410S)
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: P410S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018651
Gene: ENSMUSG00000018507
AA Change: P410S

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 damaging
Transcript: ENSMUST00000102643
AA Change: P410S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099703
Gene: ENSMUSG00000018507
AA Change: P410S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153486
Meta Mutation Damage Score 0.8716 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 99% (74/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik T C 18: 12,179,209 S169P possibly damaging Het
4930402H24Rik A T 2: 130,712,946 probably benign Het
4931428F04Rik A T 8: 105,285,067 V222E probably damaging Het
4932431P20Rik A T 7: 29,535,582 noncoding transcript Het
9230019H11Rik A T 10: 3,120,307 noncoding transcript Het
9230019H11Rik A G 10: 3,125,788 noncoding transcript Het
Abcf2 T C 5: 24,573,465 K232E probably benign Het
AI837181 C T 19: 5,426,703 T298I possibly damaging Het
Alox12 T C 11: 70,242,536 Y614C probably damaging Het
Amn A T 12: 111,274,141 probably null Het
Ankrd33b A G 15: 31,305,126 S121P probably benign Het
Aox1 A G 1: 58,092,516 Y1028C probably damaging Het
Asph C A 4: 9,453,314 R736L probably benign Het
Atp2a3 G A 11: 72,970,931 probably null Het
Cables2 T C 2: 180,262,232 probably benign Het
Catsperg2 A T 7: 29,714,901 Y360N possibly damaging Het
Ccdc129 T A 6: 55,968,034 M580K probably benign Het
Cd163l1 T G 7: 140,227,895 C660G probably damaging Het
Cdh4 T C 2: 179,847,340 S282P probably damaging Het
Col5a3 C T 9: 20,807,768 probably benign Het
Ctso A T 3: 81,951,543 probably benign Het
Cyp4f13 A T 17: 32,932,651 Y125* probably null Het
Dapk1 T A 13: 60,729,558 L537* probably null Het
Ddit4l G A 3: 137,626,185 R104Q probably benign Het
Def6 C T 17: 28,223,935 H322Y probably damaging Het
Dnah6 T C 6: 73,188,359 N588D probably benign Het
Dzip1 T A 14: 118,909,538 I320F probably damaging Het
Epb41l5 T C 1: 119,609,204 H319R probably damaging Het
Erc2 A G 14: 27,777,022 E285G probably damaging Het
Fam109b C T 15: 82,343,316 A12V probably damaging Het
Fat4 G A 3: 38,891,227 G1423E probably damaging Het
Foxp2 C T 6: 15,409,840 P480S probably damaging Het
Gadd45gip1 G A 8: 84,834,133 A126T probably damaging Het
Gbp5 G A 3: 142,505,411 D301N probably benign Het
Gm10360 T C 6: 70,424,313 noncoding transcript Het
Gm6471 T A 7: 142,833,867 noncoding transcript Het
Gm8674 T A 13: 49,902,113 noncoding transcript Het
Hist2h2bb A C 3: 96,269,788 K13Q probably null Het
Ift172 A G 5: 31,257,900 S1322P possibly damaging Het
Ift80 A T 3: 68,914,653 Y686* probably null Het
Insrr A C 3: 87,808,646 probably null Het
Krt83 C T 15: 101,487,019 V399M probably benign Het
Macf1 T C 4: 123,457,983 N3708S probably damaging Het
Mogat1 T C 1: 78,512,040 S27P probably benign Het
Mrgpra4 A T 7: 47,981,826 M9K probably benign Het
Mtus1 A T 8: 41,083,526 S384R possibly damaging Het
Myo1a T A 10: 127,710,902 M306K probably benign Het
Noxa1 G T 2: 25,085,850 D403E probably damaging Het
Ogdhl T C 14: 32,346,458 V884A possibly damaging Het
Olfr1335 A C 4: 118,809,417 L149R probably damaging Het
Olfr1392 A G 11: 49,293,786 N155S probably damaging Het
Olfr424 T A 1: 174,137,299 L185* probably null Het
Olfr429 T C 1: 174,089,109 V23A possibly damaging Het
Paxip1 G A 5: 27,758,623 probably benign Het
Paxx T A 2: 25,460,067 E145D probably damaging Het
Pde4d T C 13: 109,951,268 V560A possibly damaging Het
Plxnd1 C T 6: 115,969,460 V847M probably benign Het
Polk T A 13: 96,504,597 M151L probably damaging Het
Ptprq C T 10: 107,686,199 probably benign Het
Pum2 A G 12: 8,721,785 Q371R possibly damaging Het
Reln G A 5: 21,950,822 A2224V probably damaging Het
Shroom1 A G 11: 53,465,208 T362A probably damaging Het
Smarcd2 A G 11: 106,267,332 probably null Het
Spg11 A C 2: 122,066,232 probably benign Het
Tcaf3 T A 6: 42,589,827 Y776F probably damaging Het
Thada A G 17: 84,230,936 V1548A probably damaging Het
Ube2u G T 4: 100,481,654 E39* probably null Het
Vmn2r2 C T 3: 64,133,899 probably null Het
Vmn2r24 TCC TC 6: 123,815,410 probably null Het
Zfp110 A G 7: 12,836,375 Y43C probably damaging Het
Zfp605 A G 5: 110,124,379 T55A probably benign Het
Other mutations in Trpv2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Trpv2 APN 11 62592855 missense probably damaging 1.00
IGL02223:Trpv2 APN 11 62581255 missense probably benign 0.00
Playtar UTSW 11 62590260 missense probably damaging 1.00
PIT4576001:Trpv2 UTSW 11 62581201 missense probably damaging 1.00
R0008:Trpv2 UTSW 11 62590260 missense probably damaging 1.00
R0506:Trpv2 UTSW 11 62582906 missense probably benign 0.06
R0586:Trpv2 UTSW 11 62592770 missense probably benign 0.01
R0690:Trpv2 UTSW 11 62584676 critical splice donor site probably null
R1519:Trpv2 UTSW 11 62589826 critical splice donor site probably null
R1556:Trpv2 UTSW 11 62592233 missense probably damaging 1.00
R1770:Trpv2 UTSW 11 62596961 missense probably benign 0.12
R1772:Trpv2 UTSW 11 62594226 splice site probably benign
R2143:Trpv2 UTSW 11 62592786 missense probably benign 0.05
R4743:Trpv2 UTSW 11 62592801 missense probably benign 0.00
R4795:Trpv2 UTSW 11 62581180 missense possibly damaging 0.89
R5321:Trpv2 UTSW 11 62584571 missense probably damaging 1.00
R6856:Trpv2 UTSW 11 62584615 missense probably benign 0.00
R7024:Trpv2 UTSW 11 62584461 missense probably benign 0.03
R7168:Trpv2 UTSW 11 62583088 missense probably benign 0.19
R7488:Trpv2 UTSW 11 62589750 missense probably damaging 1.00
R7633:Trpv2 UTSW 11 62591006 critical splice donor site probably null
R8215:Trpv2 UTSW 11 62590931 missense probably damaging 0.99
R8878:Trpv2 UTSW 11 62590286 missense probably benign
R9037:Trpv2 UTSW 11 62584405 missense probably damaging 0.99
R9619:Trpv2 UTSW 11 62589736 missense probably damaging 1.00
R9664:Trpv2 UTSW 11 62584559 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGCAAGCCTTCCATCACTTCAC -3'
(R):5'- TTCCAGAAGAGGTCTGGGTACACC -3'

Sequencing Primer
(F):5'- CAACTGCTGGAATGGAAGCTC -3'
(R):5'- ACCGCTCACGCTGTCTAAG -3'
Posted On 2013-04-24