Incidental Mutation 'IGL01095:Or8d6'
ID 51908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8d6
Ensembl Gene ENSMUSG00000051493
Gene Name olfactory receptor family 8 subfamily D member 6
Synonyms Olfr974, GA_x6K02T2PVTD-33640290-33641222, MOR171-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL01095
Quality Score
Status
Chromosome 9
Chromosomal Location 39853355-39854490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39853976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 140 (V140A)
Ref Sequence ENSEMBL: ENSMUSP00000149630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062833] [ENSMUST00000213246]
AlphaFold Q8VH09
Predicted Effect probably benign
Transcript: ENSMUST00000062833
AA Change: V140A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000062985
Gene: ENSMUSG00000051493
AA Change: V140A

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 3.6e-52 PFAM
Pfam:7tm_1 41 290 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213246
AA Change: V140A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,079,133 (GRCm39) I364L probably benign Het
Adgra1 A G 7: 139,425,570 (GRCm39) T28A possibly damaging Het
Aldh8a1 A G 10: 21,265,180 (GRCm39) E269G probably benign Het
Alkbh7 A G 17: 57,304,470 (GRCm39) probably null Het
Ap1g2 T C 14: 55,342,571 (GRCm39) T129A probably benign Het
Ap1s1 A G 5: 137,070,663 (GRCm39) I117T probably damaging Het
Brca1 G A 11: 101,415,195 (GRCm39) P119S possibly damaging Het
Chid1 A G 7: 141,110,142 (GRCm39) V62A probably damaging Het
Cpa1 A T 6: 30,642,968 (GRCm39) I299F probably benign Het
Cuzd1 A G 7: 130,917,865 (GRCm39) V245A probably damaging Het
Ddx39b T C 17: 35,465,937 (GRCm39) S71P probably benign Het
Ddx42 A G 11: 106,138,325 (GRCm39) Y708C probably damaging Het
Dnah3 C A 7: 119,550,820 (GRCm39) L3166F probably benign Het
Erap1 A G 13: 74,816,213 (GRCm39) E114G probably benign Het
Fap G A 2: 62,354,545 (GRCm39) T448I possibly damaging Het
Fhl2 A T 1: 43,170,841 (GRCm39) Y158N probably benign Het
Fscb A G 12: 64,520,155 (GRCm39) V437A possibly damaging Het
Il18 A T 9: 50,490,629 (GRCm39) D88V probably damaging Het
Il5ra A T 6: 106,719,605 (GRCm39) probably benign Het
Jakmip3 A T 7: 138,622,546 (GRCm39) Q302L probably damaging Het
Lrp2 A T 2: 69,322,776 (GRCm39) Y1857* probably null Het
Meis2 T C 2: 115,694,905 (GRCm39) T406A probably benign Het
Mre11a T A 9: 14,721,120 (GRCm39) S346R probably benign Het
Myh15 A T 16: 48,952,378 (GRCm39) K816M probably damaging Het
Mysm1 C T 4: 94,856,106 (GRCm39) probably null Het
Nyap1 C A 5: 137,736,346 (GRCm39) R47L probably damaging Het
Oas3 A G 5: 120,910,954 (GRCm39) Y209H probably damaging Het
Or2v2 T G 11: 49,003,680 (GRCm39) Y291S probably damaging Het
Or4g16 A G 2: 111,136,966 (GRCm39) R139G probably benign Het
Or6c209 A G 10: 129,483,498 (GRCm39) D167G probably benign Het
Or8b42 A G 9: 38,341,811 (GRCm39) I78V probably benign Het
Pde4b T C 4: 102,363,241 (GRCm39) probably null Het
Psd3 G A 8: 68,361,165 (GRCm39) T99M probably damaging Het
R3hcc1 T C 14: 69,937,477 (GRCm39) E390G probably damaging Het
Rabgap1l A C 1: 160,566,539 (GRCm39) C58W probably benign Het
Rasd1 A G 11: 59,855,117 (GRCm39) I121T probably damaging Het
Spta1 A G 1: 174,041,051 (GRCm39) N1284D probably benign Het
Tpr T C 1: 150,285,891 (GRCm39) V525A possibly damaging Het
Other mutations in Or8d6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01638:Or8d6 APN 9 39,853,816 (GRCm39) missense probably benign 0.03
IGL02826:Or8d6 APN 9 39,854,254 (GRCm39) missense probably damaging 1.00
IGL03136:Or8d6 APN 9 39,854,332 (GRCm39) missense probably damaging 1.00
H2330:Or8d6 UTSW 9 39,854,216 (GRCm39) missense probably damaging 1.00
R0005:Or8d6 UTSW 9 39,854,252 (GRCm39) missense probably benign
R0106:Or8d6 UTSW 9 39,854,119 (GRCm39) frame shift probably null
R1769:Or8d6 UTSW 9 39,854,251 (GRCm39) missense probably benign 0.43
R1870:Or8d6 UTSW 9 39,854,117 (GRCm39) missense probably damaging 0.99
R4416:Or8d6 UTSW 9 39,853,724 (GRCm39) missense probably damaging 1.00
R4860:Or8d6 UTSW 9 39,853,800 (GRCm39) missense probably benign 0.04
R4860:Or8d6 UTSW 9 39,853,800 (GRCm39) missense probably benign 0.04
R5105:Or8d6 UTSW 9 39,853,694 (GRCm39) missense probably benign 0.19
R5273:Or8d6 UTSW 9 39,853,853 (GRCm39) missense probably benign
R6520:Or8d6 UTSW 9 39,853,658 (GRCm39) missense possibly damaging 0.90
R7203:Or8d6 UTSW 9 39,853,805 (GRCm39) missense probably benign 0.01
R7923:Or8d6 UTSW 9 39,854,263 (GRCm39) nonsense probably null
R8037:Or8d6 UTSW 9 39,854,177 (GRCm39) missense probably damaging 0.98
R8038:Or8d6 UTSW 9 39,854,177 (GRCm39) missense probably damaging 0.98
R8712:Or8d6 UTSW 9 39,853,891 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21