Incidental Mutation 'R3765:Or7a40'
ID 274678
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 040742-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R3765 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 16490914-16491843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16491179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 222 (V222A)
Ref Sequence ENSEMBL: ENSMUSP00000145655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057886] [ENSMUST00000206365]
AlphaFold Q9JHB2
Predicted Effect probably benign
Transcript: ENSMUST00000057886
AA Change: V222A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000053393
Gene: ENSMUSG00000048101
AA Change: V222A

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 benign
Transcript: ENSMUST00000206365
AA Change: V222A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206799
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T C 7: 75,258,585 (GRCm39) V403A probably benign Het
Arid2 T C 15: 96,268,595 (GRCm39) S903P probably benign Het
Arl6ip6 T A 2: 53,082,243 (GRCm39) W37R probably damaging Het
Bag3 C T 7: 128,141,995 (GRCm39) T162I probably benign Het
C4b G A 17: 34,948,814 (GRCm39) P1545S probably damaging Het
Ccdc185 T A 1: 182,575,117 (GRCm39) H524L possibly damaging Het
Cfap43 T C 19: 47,824,014 (GRCm39) N119S probably benign Het
Churc1 C A 12: 76,820,057 (GRCm39) S22* probably null Het
Crbn T C 6: 106,771,987 (GRCm39) K106E possibly damaging Het
Dag1 C T 9: 108,085,398 (GRCm39) G581E probably damaging Het
Dpp4 T A 2: 62,216,780 (GRCm39) T92S probably benign Het
Fam135a T C 1: 24,094,958 (GRCm39) T137A possibly damaging Het
Fcsk A G 8: 111,613,736 (GRCm39) I775T probably benign Het
Fermt1 T C 2: 132,748,622 (GRCm39) D667G possibly damaging Het
Foxl2 T A 9: 98,838,039 (GRCm39) I109N probably damaging Het
Frk A G 10: 34,360,001 (GRCm39) M1V probably null Het
Gstm2 A G 3: 107,891,346 (GRCm39) F124S probably damaging Het
Hmcn1 T C 1: 150,620,776 (GRCm39) S1145G possibly damaging Het
Ints10 A G 8: 69,277,771 (GRCm39) T682A possibly damaging Het
Jmy T C 13: 93,601,219 (GRCm39) M396V possibly damaging Het
Ldb3 A T 14: 34,300,639 (GRCm39) probably null Het
Mre11a A G 9: 14,721,143 (GRCm39) N354S probably benign Het
Nbea A G 3: 55,912,970 (GRCm39) V939A probably damaging Het
Nphs1 T C 7: 30,170,635 (GRCm39) S928P probably damaging Het
Or5b109 G A 19: 13,211,795 (GRCm39) M60I probably damaging Het
Or8g34 T A 9: 39,372,920 (GRCm39) Y61* probably null Het
Or9e1 T C 11: 58,732,120 (GRCm39) F60S probably damaging Het
Pla2g12b G A 10: 59,257,323 (GRCm39) V169M probably damaging Het
Polr1c C T 17: 46,558,850 (GRCm39) V14M probably damaging Het
Prg4 G A 1: 150,327,122 (GRCm39) S898L probably damaging Het
Prmt6 C A 3: 110,157,510 (GRCm39) E260* probably null Het
Ptx4 A G 17: 25,341,842 (GRCm39) T106A probably benign Het
Rab3il1 A G 19: 10,005,673 (GRCm39) T87A probably damaging Het
Sbf2 A G 7: 109,974,788 (GRCm39) V783A probably damaging Het
Scn2a A C 2: 65,513,054 (GRCm39) D209A possibly damaging Het
Setd2 T C 9: 110,423,314 (GRCm39) L345P probably damaging Het
Slc18b1 A G 10: 23,674,647 (GRCm39) D34G probably damaging Het
Slc9c1 A T 16: 45,411,244 (GRCm39) M934L possibly damaging Het
Slx4 A G 16: 3,798,850 (GRCm39) V1357A probably damaging Het
Spidr T C 16: 15,786,504 (GRCm39) E413G probably benign Het
Taar1 A G 10: 23,797,205 (GRCm39) Y301C probably damaging Het
Tada2b A T 5: 36,633,761 (GRCm39) D197E probably benign Het
Taf1c G T 8: 120,327,224 (GRCm39) Y418* probably null Het
Tanc2 A G 11: 105,805,796 (GRCm39) D394G probably damaging Het
Tnpo3 T C 6: 29,579,688 (GRCm39) D235G probably benign Het
Tns3 G A 11: 8,401,133 (GRCm39) A1055V probably benign Het
Wdfy3 A G 5: 102,009,266 (GRCm39) Y2767H probably damaging Het
Zfhx3 A G 8: 109,519,394 (GRCm39) N172S probably damaging Het
Zfp839 T C 12: 110,821,597 (GRCm39) V137A probably benign 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
R4193:Or7a40 UTSW 16 16,491,511 (GRCm39) missense possibly damaging 0.76
R4565:Or7a40 UTSW 16 16,491,557 (GRCm39) missense probably damaging 0.99
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'- TGAATGGGTTCAACATGGGG -3'
(R):5'- CATTGAATTCCTTGCTGCAGAG -3'

Sequencing Primer
(F):5'- GGTTCAACATGGGGGTGAC -3'
(R):5'- CTTGCTGCAGAGTTCAATGGCAC -3'
Posted On 2015-04-02