Incidental Mutation 'IGL02471:Or11h6'
ID 294713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or11h6
Ensembl Gene ENSMUSG00000050028
Gene Name olfactory receptor family 11 subfamily H member 6
Synonyms GA_x6K02T2PMLR-6361495-6362481, Olfr745, MOR106-11
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL02471
Quality Score
Status
Chromosome 14
Chromosomal Location 50879652-50880826 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50880214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 159 (I159F)
Ref Sequence ENSEMBL: ENSMUSP00000050184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062534] [ENSMUST00000213127] [ENSMUST00000218546]
AlphaFold Q7TRL9
Predicted Effect probably benign
Transcript: ENSMUST00000062534
AA Change: I159F

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000050184
Gene: ENSMUSG00000050028
AA Change: I159F

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:7tm_4 44 324 6.3e-54 PFAM
Pfam:7TM_GPCR_Srsx 51 191 6.6e-6 PFAM
Pfam:7tm_1 57 306 1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206749
Predicted Effect probably benign
Transcript: ENSMUST00000213127
AA Change: I153F

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216105
Predicted Effect probably benign
Transcript: ENSMUST00000218546
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,297,357 (GRCm39) H2378N probably benign Het
Btaf1 C A 19: 36,977,592 (GRCm39) A1470E probably damaging Het
Ccdc110 A G 8: 46,394,793 (GRCm39) D228G probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn18 T C 9: 99,578,128 (GRCm39) D205G probably benign Het
Clip2 T C 5: 134,546,876 (GRCm39) T231A probably benign Het
Cltc A G 11: 86,608,860 (GRCm39) V723A probably damaging Het
Cpa3 C T 3: 20,282,971 (GRCm39) probably null Het
Cyfip2 T G 11: 46,091,630 (GRCm39) T1097P possibly damaging Het
Dnah9 T A 11: 65,838,444 (GRCm39) R667* probably null Het
Dock10 T C 1: 80,493,339 (GRCm39) E1878G probably damaging Het
Ermap G A 4: 119,037,160 (GRCm39) H353Y probably damaging Het
Etfa A T 9: 55,393,984 (GRCm39) probably null Het
F5 C T 1: 164,001,860 (GRCm39) P188S probably damaging Het
Foxq1 G A 13: 31,743,326 (GRCm39) E143K possibly damaging Het
Gsr C T 8: 34,172,612 (GRCm39) probably benign Het
Hebp1 T A 6: 135,132,274 (GRCm39) Y31F probably benign Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Lamb1 T A 12: 31,370,907 (GRCm39) D1319E probably damaging Het
Lrp5 A T 19: 3,652,408 (GRCm39) V1154E probably benign Het
Manba G A 3: 135,212,769 (GRCm39) probably benign Het
Mknk2 A T 10: 80,503,955 (GRCm39) F319I probably damaging Het
Mup6 A T 4: 60,003,971 (GRCm39) probably benign Het
Nalcn T C 14: 123,560,726 (GRCm39) T784A probably benign Het
Nt5dc1 T C 10: 34,279,721 (GRCm39) E107G probably benign Het
Or56b34 T A 7: 104,938,252 (GRCm39) F317L probably benign Het
Or9q2 G A 19: 13,772,589 (GRCm39) P129S probably damaging Het
Phldb1 T C 9: 44,622,530 (GRCm39) E41G probably damaging Het
Ptk2 T C 15: 73,170,036 (GRCm39) D309G probably benign Het
Rab11fip5 A G 6: 85,325,207 (GRCm39) S367P probably damaging Het
Rb1cc1 T A 1: 6,310,275 (GRCm39) N224K probably benign Het
Rchy1 A T 5: 92,105,405 (GRCm39) C65* probably null Het
Rgs18 T C 1: 144,650,359 (GRCm39) D56G probably benign Het
Rtraf A C 14: 19,862,296 (GRCm39) L197R probably damaging Het
Slc44a5 G T 3: 153,962,213 (GRCm39) W382L probably damaging Het
Snx24 C T 18: 53,518,241 (GRCm39) probably benign Het
Sphkap T C 1: 83,253,897 (GRCm39) D1284G probably damaging Het
Tmem54 A G 4: 129,002,111 (GRCm39) M53V probably benign Het
Trip6 G A 5: 137,308,618 (GRCm39) P414S probably benign Het
Vmn1r38 A G 6: 66,753,751 (GRCm39) Y122H probably benign Het
Wapl T A 14: 34,413,877 (GRCm39) N246K possibly damaging Het
Zfp12 G A 5: 143,230,551 (GRCm39) G293R probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp446 T G 7: 12,716,181 (GRCm39) V209G probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Or11h6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Or11h6 APN 14 50,880,625 (GRCm39) missense probably benign 0.02
IGL02316:Or11h6 APN 14 50,879,744 (GRCm39) missense probably benign 0.25
IGL02377:Or11h6 APN 14 50,879,975 (GRCm39) splice site probably null
IGL02486:Or11h6 APN 14 50,880,089 (GRCm39) missense probably damaging 1.00
IGL02517:Or11h6 APN 14 50,880,658 (GRCm39) missense probably benign 0.01
R0453:Or11h6 UTSW 14 50,880,461 (GRCm39) missense possibly damaging 0.90
R0727:Or11h6 UTSW 14 50,880,460 (GRCm39) missense probably damaging 0.98
R0746:Or11h6 UTSW 14 50,880,232 (GRCm39) splice site probably null
R1638:Or11h6 UTSW 14 50,880,565 (GRCm39) missense possibly damaging 0.93
R1688:Or11h6 UTSW 14 50,880,705 (GRCm39) missense probably benign 0.04
R1991:Or11h6 UTSW 14 50,880,323 (GRCm39) missense possibly damaging 0.90
R2245:Or11h6 UTSW 14 50,880,062 (GRCm39) missense probably damaging 1.00
R3758:Or11h6 UTSW 14 50,880,493 (GRCm39) missense possibly damaging 0.96
R4084:Or11h6 UTSW 14 50,880,305 (GRCm39) missense probably damaging 0.98
R5033:Or11h6 UTSW 14 50,880,619 (GRCm39) missense probably damaging 1.00
R5211:Or11h6 UTSW 14 50,880,710 (GRCm39) missense possibly damaging 0.78
R5302:Or11h6 UTSW 14 50,879,776 (GRCm39) splice site probably null
R5645:Or11h6 UTSW 14 50,880,524 (GRCm39) missense probably benign 0.00
R5731:Or11h6 UTSW 14 50,880,248 (GRCm39) missense probably damaging 1.00
R6917:Or11h6 UTSW 14 50,880,680 (GRCm39) missense possibly damaging 0.67
R7408:Or11h6 UTSW 14 50,879,852 (GRCm39) missense probably benign 0.16
R7716:Or11h6 UTSW 14 50,879,815 (GRCm39) missense probably benign 0.17
R7728:Or11h6 UTSW 14 50,879,849 (GRCm39) missense probably benign 0.00
R8208:Or11h6 UTSW 14 50,880,088 (GRCm39) missense probably benign 0.28
R8447:Or11h6 UTSW 14 50,880,008 (GRCm39) missense probably benign 0.00
R8726:Or11h6 UTSW 14 50,880,703 (GRCm39) missense probably benign 0.00
R8748:Or11h6 UTSW 14 50,880,211 (GRCm39) missense probably benign 0.19
R9279:Or11h6 UTSW 14 50,880,493 (GRCm39) missense possibly damaging 0.96
Posted On 2015-04-16