Incidental Mutation 'R0515:Or8b40'
ID 48190
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 038709-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R0515 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 38027094-38028023 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38027313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 74 (S74P)
Ref Sequence ENSEMBL: ENSMUSP00000148913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072290] [ENSMUST00000211851] [ENSMUST00000217286]
AlphaFold L7N1Y6
Predicted Effect probably damaging
Transcript: ENSMUST00000072290
AA Change: S79P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072137
Gene: ENSMUSG00000096356
AA Change: S79P

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: S74P
Predicted Effect probably damaging
Transcript: ENSMUST00000217286
AA Change: S74P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
App C T 16: 84,900,232 (GRCm39) probably benign Het
Arhgap11a G A 2: 113,667,816 (GRCm39) T395I possibly damaging Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Cd96 A G 16: 45,884,268 (GRCm39) probably benign Het
Cfap57 A G 4: 118,477,599 (GRCm39) S2P probably damaging Het
Cltc A G 11: 86,599,865 (GRCm39) S948P probably benign Het
Cyp3a41a A T 5: 145,654,810 (GRCm39) H30Q probably damaging Het
Dcp2 C T 18: 44,532,798 (GRCm39) L105F probably benign Het
Dennd4c T C 4: 86,731,703 (GRCm39) V887A possibly damaging Het
Dnaaf9 A G 2: 130,582,408 (GRCm39) V515A probably damaging Het
Gm11360 T A 13: 28,140,143 (GRCm39) D2E probably damaging Het
Gpank1 G T 17: 35,342,475 (GRCm39) A149S probably damaging Het
Gtf2i C A 5: 134,271,773 (GRCm39) S792I probably damaging Het
Hvcn1 A G 5: 122,371,582 (GRCm39) N41D probably damaging Het
Klk1b5 A G 7: 43,867,957 (GRCm39) Y43C probably damaging Het
Lmtk2 A G 5: 144,111,809 (GRCm39) D843G possibly damaging Het
Lrriq1 A T 10: 102,904,829 (GRCm39) probably null Het
Mapk8ip1 A T 2: 92,217,701 (GRCm39) I198N possibly damaging Het
Mill1 T C 7: 17,998,798 (GRCm39) V336A probably benign Het
Mroh7 T A 4: 106,548,861 (GRCm39) M1001L probably benign Het
Nfe2 T A 15: 103,157,854 (GRCm39) T46S probably null Het
Or9q1 T C 19: 13,805,185 (GRCm39) S192G probably damaging Het
Parp4 T C 14: 56,851,124 (GRCm39) V709A probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Prex2 A T 1: 11,270,098 (GRCm39) Q1261L probably damaging Het
Prl8a8 T A 13: 27,692,350 (GRCm39) I214L probably damaging Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Siglecf T C 7: 43,005,055 (GRCm39) probably null Het
Slco1b2 T C 6: 141,615,136 (GRCm39) F347S possibly damaging Het
Sox13 A T 1: 133,311,457 (GRCm39) Y592N probably damaging Het
Synj1 C T 16: 90,790,910 (GRCm39) A84T possibly damaging Het
Tent5b A T 4: 133,213,450 (GRCm39) H107L possibly damaging Het
Trpv5 T A 6: 41,651,145 (GRCm39) probably benign Het
Tshz1 A G 18: 84,034,090 (GRCm39) V106A probably benign 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
R0693:Or8b40 UTSW 9 38,027,325 (GRCm39) missense probably benign 0.26
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 2013-06-12