Incidental Mutation 'IGL01102:Or6c76b'
ID 52097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c76b
Ensembl Gene ENSMUSG00000052818
Gene Name olfactory receptor family 6 subfamily C member 76B
Synonyms GA_x6K02T2PULF-11535078-11536010, MOR108-3, Olfr813
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL01102
Quality Score
Status
Chromosome 10
Chromosomal Location 129692389-129693321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129692497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 37 (I37V)
Ref Sequence ENSEMBL: ENSMUSP00000145260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064893] [ENSMUST00000204622]
AlphaFold Q7TRH5
Predicted Effect probably benign
Transcript: ENSMUST00000064893
AA Change: I37V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000063431
Gene: ENSMUSG00000052818
AA Change: I37V

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.2e-49 PFAM
Pfam:7tm_1 39 288 3.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204622
AA Change: I37V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145260
Gene: ENSMUSG00000052818
AA Change: I37V

DomainStartEndE-ValueType
Pfam:7tm_4 44 321 3.5e-49 PFAM
Pfam:7tm_1 54 303 1.3e-21 PFAM
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,323,968 (GRCm39) probably benign Het
Bloc1s2-ps C T 2: 52,509,914 (GRCm39) A50V probably benign Het
Bltp3b T C 10: 89,627,240 (GRCm39) L435P probably benign Het
Col4a3 A G 1: 82,647,441 (GRCm39) D455G unknown Het
Col4a3 A G 1: 82,647,976 (GRCm39) I496V unknown Het
Coro1c A T 5: 113,987,675 (GRCm39) M222K probably benign Het
Dnah5 T A 15: 28,410,149 (GRCm39) probably null Het
Emc4 C A 2: 112,197,871 (GRCm39) probably benign Het
Fcer2a T C 8: 3,738,842 (GRCm39) D32G possibly damaging Het
Fhip1a A G 3: 85,572,808 (GRCm39) probably benign Het
Garnl3 T C 2: 32,896,828 (GRCm39) K559E probably damaging Het
Gckr T C 5: 31,466,381 (GRCm39) L452P probably damaging Het
Gm4841 A G 18: 60,403,124 (GRCm39) V323A probably damaging Het
Gm6902 T A 7: 22,973,087 (GRCm39) I147L probably benign Het
Gpr75 T C 11: 30,841,755 (GRCm39) V220A probably benign Het
Hdac6 A G X: 7,813,237 (GRCm39) S42P probably benign Het
Hdhd2 A G 18: 77,044,607 (GRCm39) N128S probably damaging Het
Hsd3b2 G T 3: 98,618,995 (GRCm39) R317S probably damaging Het
Il23r T A 6: 67,400,909 (GRCm39) I474F probably damaging Het
Itga5 T C 15: 103,255,102 (GRCm39) Y954C probably benign Het
Itgam T C 7: 127,679,445 (GRCm39) F196L possibly damaging Het
Mapkbp1 T C 2: 119,852,339 (GRCm39) V957A possibly damaging Het
Mblac2 T C 13: 81,898,125 (GRCm39) M167T probably damaging Het
Mterf4 C T 1: 93,232,812 (GRCm39) R13H possibly damaging Het
Npffr1 T G 10: 61,449,987 (GRCm39) V87G probably damaging Het
Or5h18 G A 16: 58,848,192 (GRCm39) P26L probably benign Het
Phldb2 A G 16: 45,645,423 (GRCm39) L386P probably damaging Het
Ppp1r13b A G 12: 111,799,653 (GRCm39) I708T probably benign Het
Pramel31 A G 4: 144,090,195 (GRCm39) I412V probably benign Het
Ramp2 T A 11: 101,138,453 (GRCm39) Y85N probably benign Het
Rnf217 A G 10: 31,484,499 (GRCm39) Y228H probably damaging Het
Rock1 T G 18: 10,080,502 (GRCm39) D1014A probably benign Het
Scyl3 T A 1: 163,762,338 (GRCm39) C101* probably null Het
Sema6b G T 17: 56,439,761 (GRCm39) L27I possibly damaging Het
Slc10a5 A G 3: 10,400,369 (GRCm39) V97A probably benign Het
Strc C A 2: 121,195,541 (GRCm39) R1636L probably benign Het
Tm9sf1 T A 14: 55,880,224 (GRCm39) T58S probably damaging Het
Tmem106c T C 15: 97,864,825 (GRCm39) Y85H probably damaging Het
Vmn2r9 A G 5: 108,990,811 (GRCm39) probably null Het
Vps13a A G 19: 16,628,781 (GRCm39) probably null Het
Zfp976 A T 7: 42,263,333 (GRCm39) L168* probably null Het
Other mutations in Or6c76b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01650:Or6c76b APN 10 129,692,936 (GRCm39) missense probably damaging 1.00
IGL01734:Or6c76b APN 10 129,692,671 (GRCm39) missense probably benign 0.36
IGL01909:Or6c76b APN 10 129,692,950 (GRCm39) missense probably damaging 0.99
R0256:Or6c76b UTSW 10 129,692,906 (GRCm39) missense probably damaging 1.00
R0607:Or6c76b UTSW 10 129,693,070 (GRCm39) missense possibly damaging 0.67
R0924:Or6c76b UTSW 10 129,692,515 (GRCm39) missense probably damaging 1.00
R1345:Or6c76b UTSW 10 129,692,759 (GRCm39) missense probably damaging 1.00
R1462:Or6c76b UTSW 10 129,693,100 (GRCm39) missense probably damaging 0.98
R1462:Or6c76b UTSW 10 129,693,100 (GRCm39) missense probably damaging 0.98
R2344:Or6c76b UTSW 10 129,692,410 (GRCm39) missense probably benign 0.01
R3851:Or6c76b UTSW 10 129,693,016 (GRCm39) missense probably benign 0.00
R4486:Or6c76b UTSW 10 129,692,567 (GRCm39) missense probably damaging 1.00
R4934:Or6c76b UTSW 10 129,692,896 (GRCm39) missense possibly damaging 0.91
R5397:Or6c76b UTSW 10 129,692,579 (GRCm39) missense probably damaging 1.00
R5644:Or6c76b UTSW 10 129,693,296 (GRCm39) missense probably benign 0.38
R5925:Or6c76b UTSW 10 129,692,744 (GRCm39) missense probably damaging 1.00
R6224:Or6c76b UTSW 10 129,693,061 (GRCm39) missense probably benign 0.17
R7839:Or6c76b UTSW 10 129,692,899 (GRCm39) missense possibly damaging 0.78
R9260:Or6c76b UTSW 10 129,692,458 (GRCm39) missense probably benign 0.01
R9401:Or6c76b UTSW 10 129,693,298 (GRCm39) missense probably benign 0.11
Posted On 2013-06-21