Incidental Mutation 'R9595:Or7a40'
ID 723243
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R9595 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 16490914-16491843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 16491470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 125 (A125V)
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: A125V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053393
Gene: ENSMUSG00000048101
AA Change: A125V

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: A125V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,464,566 (GRCm39) M921T probably benign Het
Ankrd33 T C 15: 101,013,785 (GRCm39) probably null Het
Azin2 A G 4: 128,853,617 (GRCm39) V80A probably benign Het
Capza3 A T 6: 139,987,712 (GRCm39) I104F probably benign Het
Cd177 A G 7: 24,451,762 (GRCm39) L418P probably damaging Het
Cd86 A T 16: 36,441,275 (GRCm39) V64D probably damaging Het
Cfap65 A G 1: 74,946,537 (GRCm39) S1352P probably damaging Het
Chst10 C A 1: 38,913,029 (GRCm39) probably null Het
Cyp2j13 G T 4: 95,933,797 (GRCm39) C362* probably null Het
Ddn T C 15: 98,705,577 (GRCm39) T40A possibly damaging Het
Dennd2b C T 7: 109,155,973 (GRCm39) R259Q probably damaging Het
Fam47e G C 5: 92,726,395 (GRCm39) R111P probably benign Het
Fermt3 C T 19: 6,979,619 (GRCm39) V505M probably damaging Het
Flnc A G 6: 29,433,720 (GRCm39) H88R probably benign Het
Glyat A G 19: 12,623,728 (GRCm39) D48G probably damaging Het
Hdac5 A G 11: 102,096,129 (GRCm39) V348A probably benign Het
Ighv2-3 T C 12: 113,575,084 (GRCm39) K24E probably benign Het
Iglv1 A G 16: 18,903,948 (GRCm39) V57A possibly damaging Het
Il16 G T 7: 83,322,273 (GRCm39) Y347* probably null Het
Il20rb G A 9: 100,368,311 (GRCm39) T24M possibly damaging Het
Itgae A G 11: 73,016,182 (GRCm39) D797G probably damaging Het
Lrrc37a T A 11: 103,392,552 (GRCm39) T958S probably benign Het
Mall G T 2: 127,571,751 (GRCm39) Y12* probably null Het
N4bp3 C T 11: 51,536,932 (GRCm39) R47Q probably damaging Het
Nacad T C 11: 6,551,790 (GRCm39) D467G probably damaging Het
Or12k8 C A 2: 36,975,204 (GRCm39) K185N possibly damaging Het
Or13a18 T C 7: 140,190,939 (GRCm39) S279P probably damaging Het
Or1af1 T A 2: 37,110,281 (GRCm39) I260N probably damaging Het
Or4f61 T C 2: 111,922,375 (GRCm39) T224A probably damaging Het
Or7e177 A G 9: 20,211,661 (GRCm39) N56S probably damaging Het
Osbpl8 A G 10: 111,108,909 (GRCm39) E397G probably damaging Het
Pcmt1 A T 10: 7,524,817 (GRCm39) I111K possibly damaging Het
Pcnx1 T A 12: 81,965,688 (GRCm39) H90Q Het
Pde4dip C T 3: 97,602,207 (GRCm39) probably null Het
Peli2 T A 14: 48,493,846 (GRCm39) V356D probably damaging Het
Phyhipl G T 10: 70,395,512 (GRCm39) C231* probably null Het
Pirb A T 7: 3,722,406 (GRCm39) S146T possibly damaging Het
Rac1 G A 5: 143,513,643 (GRCm39) probably benign Het
Sh3glb2 C T 2: 30,236,672 (GRCm39) R230Q probably damaging Het
Slc38a8 C A 8: 120,209,403 (GRCm39) C390F probably benign Het
Slc39a8 G T 3: 135,592,688 (GRCm39) L454F possibly damaging Het
Slit1 A C 19: 41,637,851 (GRCm39) I314S probably damaging Het
Son T G 16: 91,454,241 (GRCm39) M996R possibly damaging Het
Sp4 A G 12: 118,262,690 (GRCm39) V452A possibly damaging Het
Tmf1 C T 6: 97,135,457 (GRCm39) D940N probably damaging Het
Tns3 G A 11: 8,401,142 (GRCm39) T1052M possibly damaging Het
Trim33 C T 3: 103,259,350 (GRCm39) P1013L probably damaging Het
Vmn1r175 A T 7: 23,508,508 (GRCm39) S40T probably damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Wdr49 C T 3: 75,265,747 (GRCm39) C233Y probably damaging Het
Wrn T C 8: 33,758,961 (GRCm39) E999G probably benign Het
Yju2b C T 8: 84,988,400 (GRCm39) V76I probably damaging Het
Zfp142 A T 1: 74,611,462 (GRCm39) C778S 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
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
R9626:Or7a40 UTSW 16 16,491,491 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCATGTCATTAGGAAAGGTGTC -3'
(R):5'- CAACCTGTCCTTTGCAGACATC -3'

Sequencing Primer
(F):5'- GTGTCATTACAGGCAAGTAGTACC -3'
(R):5'- AGACATCTGCTTTACTTCTGCTAG -3'
Posted On 2022-08-09