Incidental Mutation 'R7562:Or7a40'
ID 585226
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 045627-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7562 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 16490914-16491843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16491579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 89 (N89D)
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: N89D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000053393
Gene: ENSMUSG00000048101
AA Change: N89D

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: N89D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 36,030,563 (GRCm39) T544M probably benign Het
Adamts12 A G 15: 11,270,697 (GRCm39) R651G probably benign Het
Adck1 G A 12: 88,335,203 (GRCm39) D30N possibly damaging Het
Alcam T A 16: 52,089,186 (GRCm39) I505F probably benign Het
Alms1 T C 6: 85,597,394 (GRCm39) L740P probably damaging Het
Ankib1 C T 5: 3,797,021 (GRCm39) D264N probably null Het
Arid2 T G 15: 96,299,849 (GRCm39) H1787Q probably damaging Het
Asf1a C T 10: 53,482,283 (GRCm39) R102* probably null Het
Atp2b1 C A 10: 98,858,667 (GRCm39) probably null Het
Bdp1 T C 13: 100,162,049 (GRCm39) D2291G probably benign Het
Bnip5 T C 17: 29,128,778 (GRCm39) D45G probably benign Het
Brinp3 C G 1: 146,777,748 (GRCm39) L732V possibly damaging Het
Catsperg2 A G 7: 29,397,144 (GRCm39) F1120L probably benign Het
Ccdc80 C T 16: 44,943,266 (GRCm39) A792V probably damaging Het
Cdcp3 T A 7: 130,904,426 (GRCm39) D2381E unknown Het
Cenpe C T 3: 134,954,395 (GRCm39) R1751W probably damaging Het
Cenpm T C 15: 82,125,562 (GRCm39) I66V probably benign Het
Clcn4 A G 7: 7,298,081 (GRCm39) W103R possibly damaging Het
Cntn2 T C 1: 132,454,055 (GRCm39) D317G possibly damaging Het
Cwf19l1 G A 19: 44,117,680 (GRCm39) T154M probably damaging Het
Cyp2a4 T A 7: 26,012,321 (GRCm39) M368K possibly damaging Het
Dars1 A G 1: 128,294,763 (GRCm39) S413P possibly damaging Het
Dscc1 A G 15: 54,947,581 (GRCm39) Y200H probably benign Het
Dsn1 A T 2: 156,842,792 (GRCm39) D183E probably damaging Het
Etfdh T C 3: 79,530,886 (GRCm39) Y45C probably damaging Het
Fancc A T 13: 63,550,867 (GRCm39) probably null Het
Fbxo34 T A 14: 47,767,135 (GRCm39) M216K probably benign Het
Fer1l6 T G 15: 58,432,331 (GRCm39) S293A probably benign Het
Foxn1 T A 11: 78,261,958 (GRCm39) E137V probably damaging Het
Fshr A C 17: 89,295,925 (GRCm39) F261V probably damaging Het
Gabrb3 C T 7: 57,461,926 (GRCm39) R153* probably null Het
Garin1b T C 6: 29,323,833 (GRCm39) V186A probably damaging Het
Gps2 C A 11: 69,807,308 (GRCm39) N321K probably benign Het
Hdgf T C 3: 87,813,993 (GRCm39) M20T possibly damaging Het
Igdcc4 G T 9: 65,031,306 (GRCm39) A415S probably damaging Het
Kif26b A G 1: 178,742,541 (GRCm39) E879G probably damaging Het
Krt13 T C 11: 100,010,162 (GRCm39) Y273C probably damaging Het
Mab21l4 C A 1: 93,087,689 (GRCm39) V55F probably damaging Het
Mag A G 7: 30,608,559 (GRCm39) V185A possibly damaging Het
Map3k21 C T 8: 126,665,539 (GRCm39) T576M probably damaging Het
Mtcl2 A C 2: 156,895,509 (GRCm39) L332R probably damaging Het
Mtrr A G 13: 68,714,336 (GRCm39) F468L probably damaging Het
Myb C T 10: 21,017,653 (GRCm39) probably null Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nckap5l A T 15: 99,321,166 (GRCm39) probably null Het
Nop9 C T 14: 55,986,809 (GRCm39) R240W probably benign Het
Notch2 T C 3: 98,020,430 (GRCm39) L775P probably damaging Het
Or13a27 T C 7: 139,925,143 (GRCm39) Y253C probably damaging Het
Or4c116 C T 2: 88,942,629 (GRCm39) V76I probably benign Het
Or55b10 T A 7: 102,143,227 (GRCm39) I252F possibly damaging Het
Or8c9 A G 9: 38,241,239 (GRCm39) T116A probably damaging Het
Oxa1l T A 14: 54,600,934 (GRCm39) W136R probably damaging Het
Palm3 T A 8: 84,748,136 (GRCm39) V7E possibly damaging Het
Pkhd1l1 C G 15: 44,378,326 (GRCm39) R1027G possibly damaging Het
Prickle2 A T 6: 92,352,929 (GRCm39) *902K probably null Het
Rassf7 C T 7: 140,797,101 (GRCm39) R105* probably null Het
Septin9 T C 11: 117,217,337 (GRCm39) probably null Het
Sorbs3 T C 14: 70,444,976 (GRCm39) N34S probably benign Het
Sos2 T C 12: 69,682,412 (GRCm39) T269A probably benign Het
Spata20 T G 11: 94,373,379 (GRCm39) K497N probably benign Het
Speg A G 1: 75,407,923 (GRCm39) D3206G probably damaging Het
Tenm4 A G 7: 96,538,021 (GRCm39) T1865A probably damaging Het
Tmc5 A T 7: 118,222,549 (GRCm39) Y83F probably benign Het
Tmem175 T A 5: 108,789,715 (GRCm39) D103E probably damaging Het
Top2b A C 14: 16,412,946 (GRCm38) M952L probably benign Het
Vmn2r6 T C 3: 64,463,941 (GRCm39) I298V probably benign Het
Vmn2r69 T C 7: 85,056,420 (GRCm39) I573V probably benign Het
Vmn2r93 A G 17: 18,518,731 (GRCm39) I63M probably benign Het
Zfp568 G A 7: 29,722,681 (GRCm39) R542H 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
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
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'- ATGCTGTTGTGACCCAAGAC -3'
(R):5'- AGGATCCTCTATGGCAACCTTTC -3'

Sequencing Primer
(F):5'- GTTGTGACCCAAGACCCCAAAAC -3'
(R):5'- ATGGCAACCTTTCCTTTTTGGAC -3'
Posted On 2019-10-17