Incidental Mutation 'IGL03105:Or7a40'
ID 418914
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL03105
Quality Score
Status
Chromosome 16
Chromosomal Location 16490914-16491843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16491390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 152 (T152A)
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: T152A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000053393
Gene: ENSMUSG00000048101
AA Change: T152A

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: T152A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206799
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G 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
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
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
Posted On 2016-08-02