Incidental Mutation 'R8762:Trpv5'
ID 671842
Institutional Source Beutler Lab
Gene Symbol Trpv5
Ensembl Gene ENSMUSG00000036899
Gene Name transient receptor potential cation channel, subfamily V, member 5
Synonyms CaT2, ECaC1
MMRRC Submission 068622-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R8762 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 41629107-41657703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41652313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 124 (V124A)
Ref Sequence ENSEMBL: ENSMUSP00000031901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031901] [ENSMUST00000193503]
AlphaFold P69744
Predicted Effect probably benign
Transcript: ENSMUST00000031901
AA Change: V124A

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899
AA Change: V124A

DomainStartEndE-ValueType
Blast:ANK 38 68 1e-7 BLAST
ANK 72 102 2.3e0 SMART
ANK 110 139 4.56e-4 SMART
ANK 156 185 1.85e-4 SMART
Blast:ANK 189 217 3e-10 BLAST
ANK 232 261 3.07e2 SMART
Pfam:Ion_trans 321 583 1.8e-19 PFAM
low complexity region 676 691 N/A INTRINSIC
low complexity region 708 719 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193503
AA Change: V124A

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899
AA Change: V124A

DomainStartEndE-ValueType
Blast:ANK 38 68 1e-7 BLAST
ANK 72 102 1.5e-2 SMART
ANK 110 139 2.8e-6 SMART
ANK 156 185 1.2e-6 SMART
Blast:ANK 189 217 4e-10 BLAST
transmembrane domain 274 296 N/A INTRINSIC
Pfam:Ion_trans 335 522 2.7e-12 PFAM
low complexity region 627 642 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
Meta Mutation Damage Score 0.0735 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit increased calcium excretion and reduced bone thickenss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 A G 11: 101,301,226 (GRCm39) V272A probably benign Het
Acbd6 G A 1: 155,562,706 (GRCm39) E236K probably damaging Het
Actr1b T C 1: 36,748,909 (GRCm39) N9S probably benign Het
Adam17 A T 12: 21,401,595 (GRCm39) D133E probably benign Het
Adam6b G A 12: 113,453,227 (GRCm39) V15M probably damaging Het
Adam9 T A 8: 25,457,235 (GRCm39) N631I probably damaging Het
Albfm1 A G 5: 90,714,461 (GRCm39) N157S probably benign Het
Amy2a1 A T 3: 113,325,276 (GRCm39) probably benign Het
Aplnr A T 2: 84,967,515 (GRCm39) Y180F probably benign Het
Arhgef7 T C 8: 11,831,216 (GRCm39) V105A probably benign Het
Bambi G A 18: 3,511,277 (GRCm39) D33N probably damaging Het
Bicc1 G A 10: 70,779,216 (GRCm39) T724I probably benign Het
Brd2 T A 17: 34,335,934 (GRCm39) Q93L probably damaging Het
Cacnb2 A G 2: 14,972,759 (GRCm39) D222G possibly damaging Het
Cdh1 G T 8: 107,386,336 (GRCm39) D420Y probably damaging Het
Cep162 T C 9: 87,109,314 (GRCm39) S430G probably benign Het
Cfap161 T A 7: 83,443,282 (GRCm39) R27S possibly damaging Het
Chek1 C T 9: 36,629,636 (GRCm39) A237T probably benign Het
Chrna3 T A 9: 54,922,995 (GRCm39) K271M probably damaging Het
Coro7 A C 16: 4,452,203 (GRCm39) V410G probably benign Het
Crmp1 C A 5: 37,441,440 (GRCm39) N507K probably damaging Het
Crocc T C 4: 140,761,369 (GRCm39) R755G possibly damaging Het
Disc1 A G 8: 125,881,796 (GRCm39) D577G probably damaging Het
Dnah6 A G 6: 73,156,811 (GRCm39) Y649H possibly damaging Het
Flywch1 A G 17: 23,975,731 (GRCm39) S504P probably damaging Het
Fpr1 A T 17: 18,097,851 (GRCm39) V46D probably damaging Het
Fpr-rs7 C T 17: 20,333,789 (GRCm39) V234M probably benign Het
Ighv5-16 T C 12: 113,802,288 (GRCm39) N71D probably benign Het
Kash5 G T 7: 44,845,481 (GRCm39) D152E probably damaging Het
Kdm3b A G 18: 34,937,157 (GRCm39) M480V probably benign Het
L3mbtl3 T A 10: 26,152,121 (GRCm39) D825V probably damaging Het
Lef1 T A 3: 130,988,366 (GRCm39) M311K probably damaging Het
Magi1 T A 6: 93,792,789 (GRCm39) R150* probably null Het
Magi3 C T 3: 103,958,169 (GRCm39) V639I probably damaging Het
Mocos A T 18: 24,812,554 (GRCm39) R483W probably damaging Het
Mrps11 G T 7: 78,438,487 (GRCm39) V80F possibly damaging Het
Myh2 A T 11: 67,084,578 (GRCm39) R1706W probably damaging Het
Neurod6 T A 6: 55,656,228 (GRCm39) L136F probably damaging Het
Nfe2l1 A T 11: 96,711,306 (GRCm39) Y308N probably damaging Het
Nptn T A 9: 58,525,905 (GRCm39) probably benign Het
Or1e28-ps1 G T 11: 73,615,307 (GRCm39) T181N unknown Het
Or5g25 A T 2: 85,478,034 (GRCm39) S210R probably damaging Het
Oscar A G 7: 3,613,900 (GRCm39) S227P probably benign Het
Phgdh A C 3: 98,247,024 (GRCm39) I42R possibly damaging Het
Pla2g4a C T 1: 149,761,935 (GRCm39) G174D probably benign Het
Plcd4 A G 1: 74,591,213 (GRCm39) T203A possibly damaging Het
Plk3 ACACTCAC ACAC 4: 116,989,090 (GRCm39) probably benign Het
Plppr4 A T 3: 117,119,482 (GRCm39) V309D probably damaging Het
Pltp T C 2: 164,686,652 (GRCm39) K324E possibly damaging Het
Pml C T 9: 58,154,348 (GRCm39) R175H probably damaging Het
Psg20 C A 7: 18,408,557 (GRCm39) V388F probably benign Het
Qrfprl T C 6: 65,424,393 (GRCm39) V182A probably benign Het
Rabgef1 A G 5: 130,237,557 (GRCm39) D209G possibly damaging Het
Rif1 A T 2: 52,001,742 (GRCm39) N90I Het
Sec31a T C 5: 100,526,688 (GRCm39) H57R Het
Sidt1 T C 16: 44,152,707 (GRCm39) N62S probably benign Het
Slc18a2 T A 19: 59,261,355 (GRCm39) M172K probably benign Het
Slc34a3 T C 2: 25,121,003 (GRCm39) T362A probably benign Het
Smtn T G 11: 3,476,407 (GRCm39) D158A probably benign Het
Spen C T 4: 141,200,261 (GRCm39) V2789M probably damaging Het
Taf2 A T 15: 54,910,849 (GRCm39) N608K probably benign Het
Tctn3 A G 19: 40,595,636 (GRCm39) V383A unknown Het
Themis3 A T 17: 66,866,676 (GRCm39) M188K probably benign Het
Tshr G A 12: 91,504,324 (GRCm39) V421M probably damaging Het
Ttn T A 2: 76,539,426 (GRCm39) D34520V probably benign Het
Ttn A C 2: 76,608,294 (GRCm39) Y17876* probably null Het
Zrsr2-ps1 T C 11: 22,923,694 (GRCm39) L156P probably benign Het
Other mutations in Trpv5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Trpv5 APN 6 41,652,309 (GRCm39) missense possibly damaging 0.87
IGL01704:Trpv5 APN 6 41,630,192 (GRCm39) missense possibly damaging 0.88
IGL01860:Trpv5 APN 6 41,637,229 (GRCm39) missense probably damaging 1.00
IGL01950:Trpv5 APN 6 41,652,912 (GRCm39) missense probably benign 0.09
Firesign UTSW 6 41,634,976 (GRCm39) missense probably damaging 1.00
gingame UTSW 6 41,647,895 (GRCm39) missense probably damaging 1.00
R0515:Trpv5 UTSW 6 41,651,145 (GRCm39) intron probably benign
R1581:Trpv5 UTSW 6 41,630,074 (GRCm39) missense probably damaging 1.00
R1633:Trpv5 UTSW 6 41,652,854 (GRCm39) nonsense probably null
R1658:Trpv5 UTSW 6 41,651,216 (GRCm39) missense probably damaging 1.00
R1677:Trpv5 UTSW 6 41,634,731 (GRCm39) missense probably benign 0.44
R1955:Trpv5 UTSW 6 41,634,871 (GRCm39) missense probably damaging 1.00
R2008:Trpv5 UTSW 6 41,636,662 (GRCm39) critical splice acceptor site probably null
R2331:Trpv5 UTSW 6 41,636,902 (GRCm39) missense probably damaging 1.00
R2519:Trpv5 UTSW 6 41,651,284 (GRCm39) missense probably damaging 0.99
R2973:Trpv5 UTSW 6 41,630,165 (GRCm39) missense possibly damaging 0.81
R2974:Trpv5 UTSW 6 41,630,165 (GRCm39) missense possibly damaging 0.81
R3877:Trpv5 UTSW 6 41,637,277 (GRCm39) missense probably benign 0.10
R3923:Trpv5 UTSW 6 41,630,183 (GRCm39) missense probably benign 0.00
R4056:Trpv5 UTSW 6 41,636,639 (GRCm39) missense probably damaging 1.00
R4396:Trpv5 UTSW 6 41,634,830 (GRCm39) missense probably benign 0.00
R4757:Trpv5 UTSW 6 41,630,148 (GRCm39) missense probably damaging 0.98
R5013:Trpv5 UTSW 6 41,636,647 (GRCm39) missense probably damaging 1.00
R5039:Trpv5 UTSW 6 41,652,879 (GRCm39) missense possibly damaging 0.73
R5330:Trpv5 UTSW 6 41,637,266 (GRCm39) missense probably benign 0.06
R5331:Trpv5 UTSW 6 41,637,266 (GRCm39) missense probably benign 0.06
R6270:Trpv5 UTSW 6 41,651,293 (GRCm39) missense possibly damaging 0.94
R6405:Trpv5 UTSW 6 41,651,602 (GRCm39) missense probably damaging 1.00
R6575:Trpv5 UTSW 6 41,652,903 (GRCm39) missense probably benign
R6669:Trpv5 UTSW 6 41,634,976 (GRCm39) missense probably damaging 1.00
R6681:Trpv5 UTSW 6 41,630,288 (GRCm39) missense probably damaging 0.97
R6817:Trpv5 UTSW 6 41,634,941 (GRCm39) missense possibly damaging 0.65
R7021:Trpv5 UTSW 6 41,630,204 (GRCm39) missense probably benign 0.00
R7069:Trpv5 UTSW 6 41,652,894 (GRCm39) missense possibly damaging 0.94
R7161:Trpv5 UTSW 6 41,637,470 (GRCm39) nonsense probably null
R7241:Trpv5 UTSW 6 41,652,242 (GRCm39) nonsense probably null
R7505:Trpv5 UTSW 6 41,651,590 (GRCm39) missense probably damaging 0.99
R7806:Trpv5 UTSW 6 41,651,867 (GRCm39) missense probably damaging 0.99
R8060:Trpv5 UTSW 6 41,651,465 (GRCm39) nonsense probably null
R8407:Trpv5 UTSW 6 41,652,272 (GRCm39) missense probably benign 0.02
R8428:Trpv5 UTSW 6 41,630,182 (GRCm39) missense possibly damaging 0.48
R8435:Trpv5 UTSW 6 41,647,827 (GRCm39) missense probably damaging 1.00
R8885:Trpv5 UTSW 6 41,630,192 (GRCm39) missense possibly damaging 0.88
R8896:Trpv5 UTSW 6 41,647,847 (GRCm39) missense probably damaging 1.00
R9566:Trpv5 UTSW 6 41,637,456 (GRCm39) missense probably null 1.00
R9594:Trpv5 UTSW 6 41,647,773 (GRCm39) missense probably benign
R9701:Trpv5 UTSW 6 41,651,594 (GRCm39) missense possibly damaging 0.82
Z1177:Trpv5 UTSW 6 41,651,255 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGGGATTGGCCTCTAGTTC -3'
(R):5'- CAGGAGTCTGAGGGATTAACTATC -3'

Sequencing Primer
(F):5'- GGATTGGCCTCTAGTTCTAAGCC -3'
(R):5'- CCTTAGTTCCTGACTATTCTCCAATC -3'
Posted On 2021-04-30