Incidental Mutation 'R4565:Or7a40'
ID 343302
Institutional Source Beutler Lab
Gene Symbol Or7a40
Ensembl Gene ENSMUSG00000048101
Gene Name olfactory receptor family 7 subfamily A member 40
Synonyms MTPCR15, GA_x54KRFPKG5P-13123979-13123050, Olfr19, MOR140-1, M12
MMRRC Submission 041790-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R4565 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 16490914-16491843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 16491557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 96 (G96V)
Ref Sequence ENSEMBL: ENSMUSP00000145655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057886] [ENSMUST00000206365]
AlphaFold Q9JHB2
Predicted Effect probably damaging
Transcript: ENSMUST00000057886
AA Change: G96V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053393
Gene: ENSMUSG00000048101
AA Change: G96V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 190 9.6e-8 PFAM
Pfam:7tm_1 41 290 2.9e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206365
AA Change: G96V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206799
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (37/38)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,375,806 (GRCm39) probably benign Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Afg3l1 A T 8: 124,228,608 (GRCm39) K725* probably null Het
Alkbh1 T C 12: 87,478,236 (GRCm39) D225G probably damaging Het
Anxa2 A T 9: 69,397,019 (GRCm39) K241M probably damaging Het
Bptf G A 11: 106,963,836 (GRCm39) T1786M probably damaging Het
Cnst A G 1: 179,432,114 (GRCm39) E208G probably damaging Het
Dcdc2b T C 4: 129,504,778 (GRCm39) T118A probably benign Het
Dhx35 C A 2: 158,691,455 (GRCm39) A646E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnhd1 T A 7: 105,301,163 (GRCm39) D173E possibly damaging Het
Dpy19l1 A T 9: 24,343,684 (GRCm39) L487Q probably null Het
Gtse1 T G 15: 85,759,385 (GRCm39) V631G probably damaging Het
Haspin G A 11: 73,028,445 (GRCm39) L215F probably benign Het
Herc2 T C 7: 55,803,586 (GRCm39) V2207A possibly damaging Het
Jph1 A G 1: 17,074,426 (GRCm39) Y531H possibly damaging Het
Limk2 A G 11: 3,298,634 (GRCm39) I261T probably damaging Het
Oas3 A G 5: 120,909,104 (GRCm39) F281L probably damaging Het
Or2a25 A T 6: 42,888,472 (GRCm39) Q5L probably benign Het
Pcdhb17 A G 18: 37,619,523 (GRCm39) T438A probably benign Het
Pfdn5 T C 15: 102,235,220 (GRCm39) probably benign Het
Rab11fip3 A G 17: 26,287,680 (GRCm39) C158R possibly damaging Het
Rbmxl1 G A 8: 79,232,639 (GRCm39) P235S probably benign Het
Slc9b1 G T 3: 135,088,478 (GRCm39) V280F probably damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Trpm3 T C 19: 22,965,233 (GRCm39) I1576T probably benign Het
Trpm6 T A 19: 18,803,236 (GRCm39) V893D probably damaging Het
Ttc13 A T 8: 125,408,826 (GRCm39) N583K probably damaging Het
Zfp618 T C 4: 63,039,588 (GRCm39) C396R probably damaging Het
Other mutations in Or7a40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Or7a40 APN 16 16,491,129 (GRCm39) missense probably damaging 1.00
IGL01790:Or7a40 APN 16 16,490,967 (GRCm39) missense probably damaging 1.00
IGL03105:Or7a40 APN 16 16,491,390 (GRCm39) missense probably benign 0.00
PIT4418001:Or7a40 UTSW 16 16,491,719 (GRCm39) missense probably damaging 1.00
R1891:Or7a40 UTSW 16 16,491,441 (GRCm39) missense probably damaging 0.99
R1969:Or7a40 UTSW 16 16,491,447 (GRCm39) missense probably benign 0.00
R2138:Or7a40 UTSW 16 16,491,069 (GRCm39) missense probably damaging 1.00
R3765:Or7a40 UTSW 16 16,491,179 (GRCm39) missense probably benign 0.05
R4193:Or7a40 UTSW 16 16,491,511 (GRCm39) missense possibly damaging 0.76
R4897:Or7a40 UTSW 16 16,491,482 (GRCm39) missense probably damaging 1.00
R5753:Or7a40 UTSW 16 16,491,484 (GRCm39) nonsense probably null
R6505:Or7a40 UTSW 16 16,491,784 (GRCm39) missense probably benign 0.01
R7460:Or7a40 UTSW 16 16,491,030 (GRCm39) missense possibly damaging 0.77
R7562:Or7a40 UTSW 16 16,491,579 (GRCm39) missense probably benign 0.00
R7818:Or7a40 UTSW 16 16,491,437 (GRCm39) missense probably damaging 0.97
R9260:Or7a40 UTSW 16 16,491,337 (GRCm39) nonsense probably null
R9595:Or7a40 UTSW 16 16,491,470 (GRCm39) missense probably damaging 1.00
R9626:Or7a40 UTSW 16 16,491,491 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTGTTGTGACCCAAGACC -3'
(R):5'- GGATCCTCTATGGCAACCTTTC -3'

Sequencing Primer
(F):5'- GTTGTGACCCAAGACCCCAAAAC -3'
(R):5'- ACTTGGTCACTCTGCTTGGGAAC -3'
Posted On 2015-09-24