Incidental Mutation 'R5748:Or14c40'
ID 445866
Institutional Source Beutler Lab
Gene Symbol Or14c40
Ensembl Gene ENSMUSG00000063394
Gene Name olfactory receptor family 14 subfamily C member 40
Synonyms Olfr293, MOR221-3, GA_x6K02T2NHDJ-9457744-9456734
MMRRC Submission 043355-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5748 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 86312872-86313882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86313293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 141 (N141S)
Ref Sequence ENSEMBL: ENSMUSP00000149959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081474] [ENSMUST00000214401] [ENSMUST00000215280]
AlphaFold Q7TS10
Predicted Effect possibly damaging
Transcript: ENSMUST00000081474
AA Change: N141S

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080193
Gene: ENSMUSG00000063394
AA Change: N141S

DomainStartEndE-ValueType
Pfam:7tm_4 35 313 2.1e-45 PFAM
Pfam:7tm_1 45 295 1.6e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214401
AA Change: N141S

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215280
AA Change: N141S

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.2144 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 98% (58/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,739,447 (GRCm39) Q285R probably damaging Het
Acy1 T A 9: 106,313,926 (GRCm39) N78I probably damaging Het
Anln T C 9: 22,249,230 (GRCm39) K166E probably damaging Het
C1qtnf4 A G 2: 90,719,877 (GRCm39) D50G probably damaging Het
Cntnap2 A G 6: 45,692,818 (GRCm39) T100A probably damaging Het
Cxcr6 C T 9: 123,639,406 (GRCm39) R143C probably damaging Het
Dhx16 T C 17: 36,194,206 (GRCm39) L439P probably damaging Het
Dlk1 T C 12: 109,425,898 (GRCm39) V257A probably benign Het
Ebpl A T 14: 61,597,793 (GRCm39) L16Q probably null Het
Eml5 T A 12: 98,791,814 (GRCm39) Y1234F probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gria1 A G 11: 57,200,702 (GRCm39) D793G probably benign Het
Gtse1 T C 15: 85,751,778 (GRCm39) Y324H probably benign Het
Hcn1 A T 13: 118,112,591 (GRCm39) S852C probably damaging Het
Invs A G 4: 48,307,823 (GRCm39) T83A probably damaging Het
Iqgap3 T C 3: 88,016,677 (GRCm39) L155P probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc14b T A 13: 74,511,759 (GRCm39) D107V probably damaging Het
Mcm9 A T 10: 53,501,825 (GRCm39) H253Q probably damaging Het
Mcmdc2 A G 1: 9,982,032 (GRCm39) Y30C probably damaging Het
Mdga1 C T 17: 30,069,525 (GRCm39) D174N probably benign Het
Med13l G A 5: 118,731,510 (GRCm39) R62H probably damaging Het
Mrgpra2b A G 7: 47,152,280 (GRCm39) probably benign Het
Nacad T A 11: 6,548,370 (GRCm39) K1426* probably null Het
Ndufb6 A G 4: 40,279,234 (GRCm39) L35S probably damaging Het
Niban2 A T 2: 32,809,581 (GRCm39) K260M probably damaging Het
Nkapl A G 13: 21,651,779 (GRCm39) I278T probably benign Het
Nrbp2 T C 15: 75,961,332 (GRCm39) E263G probably damaging Het
Nup85 T A 11: 115,471,338 (GRCm39) L110Q probably damaging Het
Or1e35 A G 11: 73,797,721 (GRCm39) I199T probably damaging Het
Or2t6 T C 14: 14,175,314 (GRCm38) Y256C probably damaging Het
Or4a78 A T 2: 89,498,146 (GRCm39) M28K possibly damaging Het
Or5b12 T A 19: 12,897,379 (GRCm39) Q98L probably damaging Het
Or6b2b T A 1: 92,418,815 (GRCm39) I221F probably damaging Het
Polr2m C T 9: 71,390,918 (GRCm39) D95N probably benign Het
Popdc2 A T 16: 38,194,665 (GRCm39) D362V probably damaging Het
Pot1a A T 6: 25,758,855 (GRCm39) I308N possibly damaging Het
Rsf1 GCGGCGGC GCGGCGGCGTCGGCGGC 7: 97,229,135 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rundc3a G A 11: 102,290,225 (GRCm39) E189K possibly damaging Het
Scaf1 A C 7: 44,662,230 (GRCm39) probably null Het
Scaper T C 9: 55,766,360 (GRCm39) probably null Het
Sh3glb1 C T 3: 144,418,410 (GRCm39) C51Y probably damaging Het
Slc10a5 T C 3: 10,400,391 (GRCm39) T90A probably benign Het
Slc17a3 T A 13: 24,040,449 (GRCm39) S336T probably damaging Het
Slc41a2 C A 10: 83,133,023 (GRCm39) C341F probably benign Het
Spata31 A G 13: 65,068,127 (GRCm39) *67W probably null Het
Stap2 C T 17: 56,307,475 (GRCm39) probably null Het
Stt3a A T 9: 36,663,696 (GRCm39) M182K probably benign Het
Tcfl5 G A 2: 180,284,050 (GRCm39) silent Het
Tmx3 T C 18: 90,555,225 (GRCm39) V314A probably benign Het
Upf1 A G 8: 70,791,167 (GRCm39) L525P probably damaging Het
Wdr6 T C 9: 108,452,981 (GRCm39) I301V possibly damaging Het
Ylpm1 T A 12: 85,107,025 (GRCm39) probably null Het
Zfp273 T C 13: 67,973,450 (GRCm39) Y160H probably damaging Het
Other mutations in Or14c40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02478:Or14c40 APN 7 86,313,344 (GRCm39) missense probably damaging 0.97
IGL02659:Or14c40 APN 7 86,313,289 (GRCm39) missense probably benign 0.06
IGL02730:Or14c40 APN 7 86,313,275 (GRCm39) missense probably damaging 0.98
IGL02959:Or14c40 APN 7 86,313,737 (GRCm39) missense probably damaging 0.98
R0045:Or14c40 UTSW 7 86,313,548 (GRCm39) missense possibly damaging 0.90
R0094:Or14c40 UTSW 7 86,313,502 (GRCm39) missense probably benign
R0094:Or14c40 UTSW 7 86,313,502 (GRCm39) missense probably benign
R0152:Or14c40 UTSW 7 86,313,719 (GRCm39) missense probably damaging 1.00
R0669:Or14c40 UTSW 7 86,313,544 (GRCm39) missense possibly damaging 0.79
R0942:Or14c40 UTSW 7 86,313,314 (GRCm39) missense probably damaging 0.98
R1467:Or14c40 UTSW 7 86,313,185 (GRCm39) missense possibly damaging 0.90
R1467:Or14c40 UTSW 7 86,313,185 (GRCm39) missense possibly damaging 0.90
R1656:Or14c40 UTSW 7 86,313,331 (GRCm39) missense probably benign 0.04
R2010:Or14c40 UTSW 7 86,313,811 (GRCm39) missense probably benign
R2056:Or14c40 UTSW 7 86,313,591 (GRCm39) missense probably damaging 1.00
R2059:Or14c40 UTSW 7 86,313,591 (GRCm39) missense probably damaging 1.00
R2105:Or14c40 UTSW 7 86,313,591 (GRCm39) missense probably damaging 1.00
R4166:Or14c40 UTSW 7 86,313,602 (GRCm39) missense probably damaging 1.00
R4303:Or14c40 UTSW 7 86,313,163 (GRCm39) missense probably benign 0.16
R4531:Or14c40 UTSW 7 86,313,479 (GRCm39) missense probably benign 0.02
R4808:Or14c40 UTSW 7 86,313,146 (GRCm39) missense probably benign 0.00
R5937:Or14c40 UTSW 7 86,313,684 (GRCm39) missense probably benign 0.00
R6178:Or14c40 UTSW 7 86,313,819 (GRCm39) missense probably benign 0.45
R6766:Or14c40 UTSW 7 86,313,293 (GRCm39) missense probably damaging 0.98
R7315:Or14c40 UTSW 7 86,313,445 (GRCm39) missense probably damaging 0.99
R7585:Or14c40 UTSW 7 86,313,880 (GRCm39) makesense probably null
R9201:Or14c40 UTSW 7 86,313,749 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTGTGCCCAATGCTTGTATC -3'
(R):5'- AGCTACCACTGAGACCAATGG -3'

Sequencing Primer
(F):5'- GTGCCCAATGCTTGTATCAACTC -3'
(R):5'- ACTGAGACCAATGGCAGTC -3'
Posted On 2016-11-21