Incidental Mutation 'R0693:Or8b40'
ID 63401
Institutional Source Beutler Lab
Gene Symbol Or8b40
Ensembl Gene ENSMUSG00000096356
Gene Name olfactory receptor family 8 subfamily B member 40
Synonyms GA_x6K02T2PVTD-31795028-31795957, Olfr889, MOR162-2
MMRRC Submission 038878-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R0693 (G1)
Quality Score 185
Status Not validated
Chromosome 9
Chromosomal Location 38027094-38028023 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38027325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 78 (T78A)
Ref Sequence ENSEMBL: ENSMUSP00000148913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072290] [ENSMUST00000211851] [ENSMUST00000217286]
AlphaFold L7N1Y6
Predicted Effect probably benign
Transcript: ENSMUST00000072290
AA Change: T83A

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000072137
Gene: ENSMUSG00000096356
AA Change: T83A

DomainStartEndE-ValueType
Pfam:7tm_4 36 311 4.4e-50 PFAM
Pfam:7tm_1 46 293 1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213042
AA Change: T78A
Predicted Effect probably benign
Transcript: ENSMUST00000217286
AA Change: T78A

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef12 A T 9: 42,929,697 (GRCm39) N199K probably damaging Het
Ccnj T A 19: 40,825,551 (GRCm39) L87H probably damaging Het
Cntn3 T C 6: 102,145,908 (GRCm39) T978A possibly damaging Het
Garnl3 A G 2: 32,975,919 (GRCm39) F16L probably damaging Het
Gbgt1 G A 2: 28,394,842 (GRCm39) G160D probably damaging Het
Gm5114 T C 7: 39,058,188 (GRCm39) D477G probably benign Het
Gp1ba T C 11: 70,531,284 (GRCm39) probably benign Het
Inpp4b A T 8: 82,723,943 (GRCm39) T492S probably benign Het
Islr2 T C 9: 58,107,027 (GRCm39) T78A possibly damaging Het
Klhl9 T G 4: 88,638,527 (GRCm39) K571N probably benign Het
Msl3l2 G A 10: 55,991,947 (GRCm39) R224Q possibly damaging Het
Nfe2l3 A G 6: 51,410,034 (GRCm39) T50A possibly damaging Het
Or7g32 G A 9: 19,389,268 (GRCm39) Q90* probably null Het
Prkg1 T A 19: 30,572,378 (GRCm39) Q426L probably benign Het
Rnf215 G A 11: 4,090,401 (GRCm39) probably null Het
Sp100 T A 1: 85,594,726 (GRCm39) probably null Het
Tbc1d21 G A 9: 58,268,570 (GRCm39) T263M probably damaging Het
Tenm2 G A 11: 35,915,636 (GRCm39) T1966M probably damaging Het
Tnni3k T C 3: 154,667,609 (GRCm39) Y268C probably damaging Het
Usp34 A G 11: 23,402,637 (GRCm39) T2477A probably damaging Het
Other mutations in Or8b40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02201:Or8b40 APN 9 38,027,893 (GRCm39) missense probably benign 0.02
IGL02604:Or8b40 APN 9 38,027,148 (GRCm39) nonsense probably null
IGL02727:Or8b40 APN 9 38,027,808 (GRCm39) missense probably damaging 0.99
R0364:Or8b40 UTSW 9 38,027,325 (GRCm39) missense probably benign 0.26
R0387:Or8b40 UTSW 9 38,027,066 (GRCm39) splice site probably null
R0409:Or8b40 UTSW 9 38,027,547 (GRCm39) missense probably benign
R0515:Or8b40 UTSW 9 38,027,313 (GRCm39) missense probably damaging 1.00
R1554:Or8b40 UTSW 9 38,027,230 (GRCm39) missense probably benign 0.01
R1972:Or8b40 UTSW 9 38,027,863 (GRCm39) missense possibly damaging 0.79
R1973:Or8b40 UTSW 9 38,027,863 (GRCm39) missense possibly damaging 0.79
R3815:Or8b40 UTSW 9 38,027,922 (GRCm39) missense possibly damaging 0.94
R3816:Or8b40 UTSW 9 38,027,922 (GRCm39) missense possibly damaging 0.94
R3817:Or8b40 UTSW 9 38,027,922 (GRCm39) missense possibly damaging 0.94
R3819:Or8b40 UTSW 9 38,027,922 (GRCm39) missense possibly damaging 0.94
R5532:Or8b40 UTSW 9 38,027,923 (GRCm39) missense probably benign 0.12
R5775:Or8b40 UTSW 9 38,027,423 (GRCm39) missense probably damaging 1.00
R5931:Or8b40 UTSW 9 38,027,670 (GRCm39) missense probably benign 0.00
R6458:Or8b40 UTSW 9 38,027,350 (GRCm39) missense possibly damaging 0.90
R6751:Or8b40 UTSW 9 38,027,271 (GRCm39) missense probably damaging 1.00
R7168:Or8b40 UTSW 9 38,027,959 (GRCm39) missense probably damaging 1.00
R7673:Or8b40 UTSW 9 38,027,523 (GRCm39) missense probably benign 0.00
R7698:Or8b40 UTSW 9 38,027,188 (GRCm39) nonsense probably null
R8432:Or8b40 UTSW 9 38,027,272 (GRCm39) missense probably damaging 1.00
R9034:Or8b40 UTSW 9 38,027,550 (GRCm39) missense possibly damaging 0.83
R9236:Or8b40 UTSW 9 38,027,496 (GRCm39) missense possibly damaging 0.47
R9561:Or8b40 UTSW 9 38,028,010 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AACCCAGTGAGCCTTTGGTGTG -3'
(R):5'- TGGGACATGGTGACCTGGTAAAGC -3'

Sequencing Primer
(F):5'- GAATGGCTGTAGGAAATTCCTC -3'
(R):5'- CAGGGGCTTACAGATGGC -3'
Posted On 2013-07-30