Incidental Mutation 'IGL01611:Tas2r117'
ID 92123
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tas2r117
Ensembl Gene ENSMUSG00000058349
Gene Name taste receptor, type 2, member 117
Synonyms T2R17, mGR17, Tas2r17, mt2r54
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL01611
Quality Score
Status
Chromosome 6
Chromosomal Location 132779864-132780856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132780450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 196 (V196A)
Ref Sequence ENSEMBL: ENSMUSP00000069768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068302]
AlphaFold Q7M715
Predicted Effect probably damaging
Transcript: ENSMUST00000068302
AA Change: V196A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069768
Gene: ENSMUSG00000058349
AA Change: V196A

DomainStartEndE-ValueType
Pfam:TAS2R 8 307 1.2e-85 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,954,644 (GRCm39) L209S possibly damaging Het
Abcc2 G T 19: 43,815,068 (GRCm39) V1152F probably damaging Het
Adam9 C T 8: 25,457,212 (GRCm39) V639I probably benign Het
Cdc6 A G 11: 98,805,989 (GRCm39) I388V probably benign Het
Chrm5 C T 2: 112,310,651 (GRCm39) W155* probably null Het
Chrna9 A G 5: 66,128,287 (GRCm39) D161G probably damaging Het
Det1 A G 7: 78,477,702 (GRCm39) V541A possibly damaging Het
Efhc1 G T 1: 21,060,911 (GRCm39) *649L probably null Het
Ehbp1 C T 11: 22,122,883 (GRCm39) V146M probably damaging Het
Enam A C 5: 88,651,608 (GRCm39) D1039A probably damaging Het
Fam20b A T 1: 156,530,035 (GRCm39) V133E probably benign Het
Frem2 T A 3: 53,563,130 (GRCm39) Q459L probably benign Het
Gapdhs C T 7: 30,429,866 (GRCm39) probably benign Het
Gm3404 T A 5: 146,465,157 (GRCm39) V299D possibly damaging Het
Gorasp2 C A 2: 70,519,604 (GRCm39) H310N possibly damaging Het
Gpr157 T C 4: 150,186,094 (GRCm39) S219P possibly damaging Het
Gpt2 T A 8: 86,246,167 (GRCm39) C375* probably null Het
Gtf2h3 T C 5: 124,733,748 (GRCm39) S274P probably damaging Het
Hmg20b C T 10: 81,183,309 (GRCm39) V83M probably benign Het
Igf2r G T 17: 12,944,302 (GRCm39) Y400* probably null Het
Ipo9 A T 1: 135,314,431 (GRCm39) W942R possibly damaging Het
Iqch T C 9: 63,403,519 (GRCm39) probably null Het
Kcnh3 T C 15: 99,127,383 (GRCm39) L393P probably benign Het
Kcnk12 T A 17: 88,104,495 (GRCm39) I130L probably benign Het
Lcorl T C 5: 45,904,434 (GRCm39) T205A probably damaging Het
Lpar6 G T 14: 73,476,878 (GRCm39) A280S probably damaging Het
Mgarp A T 3: 51,296,570 (GRCm39) V152E probably damaging Het
Pard3b A G 1: 62,677,021 (GRCm39) D1184G probably damaging Het
Pcnt A G 10: 76,272,258 (GRCm39) probably null Het
Pde6b A G 5: 108,551,262 (GRCm39) N182S possibly damaging Het
Pom121 T C 5: 135,412,526 (GRCm39) K516E unknown Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ptpn18 T C 1: 34,498,898 (GRCm39) probably benign Het
Rapgef5 C T 12: 117,717,154 (GRCm39) probably benign Het
Ryr2 A G 13: 11,606,202 (GRCm39) L4460S possibly damaging Het
Sema6b T C 17: 56,436,969 (GRCm39) probably null Het
Serpinb6d T A 13: 33,850,375 (GRCm39) C67* probably null Het
Sorbs2 T G 8: 46,248,381 (GRCm39) V510G probably null Het
Spic T A 10: 88,511,864 (GRCm39) I131F possibly damaging Het
Spire2 T C 8: 124,086,137 (GRCm39) S290P probably damaging Het
Tff1 C T 17: 31,381,703 (GRCm39) G58D probably damaging Het
Tmprss11g T C 5: 86,638,640 (GRCm39) T283A probably benign Het
Toporsl T A 4: 52,610,794 (GRCm39) L229H probably damaging Het
Vmn2r80 G A 10: 79,007,488 (GRCm39) G488D probably damaging Het
Vps54 T A 11: 21,261,082 (GRCm39) V583D probably damaging Het
Vwa1 T C 4: 155,855,255 (GRCm39) E286G possibly damaging Het
Vwde A T 6: 13,219,977 (GRCm39) I58N probably damaging Het
Zbtb11 T C 16: 55,800,973 (GRCm39) V109A probably damaging Het
Zfp319 C T 8: 96,055,540 (GRCm39) R221Q probably benign Het
Other mutations in Tas2r117
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01611:Tas2r117 APN 6 132,780,447 (GRCm39) missense probably benign 0.00
IGL02140:Tas2r117 APN 6 132,780,558 (GRCm39) missense probably benign 0.15
IGL02154:Tas2r117 APN 6 132,780,678 (GRCm39) missense probably benign 0.00
IGL02466:Tas2r117 APN 6 132,779,963 (GRCm39) missense probably benign 0.12
IGL02942:Tas2r117 APN 6 132,780,657 (GRCm39) missense probably benign 0.00
IGL03328:Tas2r117 APN 6 132,780,041 (GRCm39) missense probably benign 0.40
PIT4480001:Tas2r117 UTSW 6 132,780,014 (GRCm39) missense possibly damaging 0.91
R0380:Tas2r117 UTSW 6 132,780,551 (GRCm39) nonsense probably null
R0456:Tas2r117 UTSW 6 132,780,354 (GRCm39) missense probably benign 0.12
R0699:Tas2r117 UTSW 6 132,780,161 (GRCm39) missense probably damaging 1.00
R2118:Tas2r117 UTSW 6 132,780,129 (GRCm39) missense probably damaging 0.96
R2265:Tas2r117 UTSW 6 132,780,188 (GRCm39) missense probably benign 0.06
R4420:Tas2r117 UTSW 6 132,780,312 (GRCm39) nonsense probably null
R4861:Tas2r117 UTSW 6 132,780,092 (GRCm39) missense probably benign 0.00
R4861:Tas2r117 UTSW 6 132,780,092 (GRCm39) missense probably benign 0.00
R5233:Tas2r117 UTSW 6 132,780,585 (GRCm39) missense possibly damaging 0.95
R5384:Tas2r117 UTSW 6 132,780,117 (GRCm39) missense probably benign 0.04
R6750:Tas2r117 UTSW 6 132,779,817 (GRCm39) start gained probably benign
R6852:Tas2r117 UTSW 6 132,779,892 (GRCm39) missense probably benign 0.00
R6902:Tas2r117 UTSW 6 132,780,288 (GRCm39) missense probably damaging 0.98
R6946:Tas2r117 UTSW 6 132,780,288 (GRCm39) missense probably damaging 0.98
R7129:Tas2r117 UTSW 6 132,780,350 (GRCm39) missense probably benign 0.01
R7412:Tas2r117 UTSW 6 132,780,192 (GRCm39) missense probably damaging 1.00
R7733:Tas2r117 UTSW 6 132,780,138 (GRCm39) missense probably benign 0.02
R7768:Tas2r117 UTSW 6 132,780,485 (GRCm39) missense probably damaging 1.00
R7953:Tas2r117 UTSW 6 132,780,281 (GRCm39) missense probably damaging 1.00
R9629:Tas2r117 UTSW 6 132,780,374 (GRCm39) missense probably benign 0.41
Posted On 2013-12-09