Incidental Mutation 'R4808:Or14c40'
ID 370833
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 042427-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R4808 (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 86313146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 92 (D92G)
Ref Sequence ENSEMBL: ENSMUSP00000149959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081474] [ENSMUST00000214401] [ENSMUST00000215280]
AlphaFold Q7TS10
Predicted Effect probably benign
Transcript: ENSMUST00000081474
AA Change: D92G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000080193
Gene: ENSMUSG00000063394
AA Change: D92G

DomainStartEndE-ValueType
Pfam:7tm_4 35 313 2.1e-45 PFAM
Pfam:7tm_1 45 295 1.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214401
AA Change: D92G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000215280
AA Change: D92G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.1269 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (71/72)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
Abi3bp A G 16: 56,414,879 (GRCm39) D347G probably damaging Het
Adora2a A G 10: 75,169,280 (GRCm39) N248S probably damaging Het
Agap3 T C 5: 24,706,243 (GRCm39) F836L probably benign Het
Arap2 G A 5: 62,887,984 (GRCm39) T454M probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atm A G 9: 53,356,795 (GRCm39) S2819P probably damaging Het
Atp8b1 A G 18: 64,694,782 (GRCm39) F500S probably benign Het
Catsper1 G A 19: 5,394,164 (GRCm39) D682N possibly damaging Het
Chordc1 A G 9: 18,203,709 (GRCm39) Y6C probably damaging Het
Cped1 A G 6: 22,088,756 (GRCm39) K273R probably damaging Het
Crat T C 2: 30,300,033 (GRCm39) I116V probably benign Het
Cyp26a1 A G 19: 37,689,573 (GRCm39) H423R probably benign Het
Cyp4f40 A G 17: 32,893,249 (GRCm39) E360G probably benign Het
D430041D05Rik A C 2: 104,031,455 (GRCm39) probably null Het
Eif3i A T 4: 129,485,857 (GRCm39) F323I probably benign Het
Fam53a A G 5: 33,765,023 (GRCm39) S228P probably damaging Het
Gm10305 C T 4: 99,161,481 (GRCm39) noncoding transcript Het
Gm7347 C T 5: 26,259,995 (GRCm39) R185H probably benign Het
Golga2 G T 2: 32,193,226 (GRCm39) A441S probably benign Het
Gphn T A 12: 78,701,654 (GRCm39) S608T probably benign Het
Gramd1b A T 9: 40,215,645 (GRCm39) V620E possibly damaging Het
H2bc18 T G 3: 96,177,329 (GRCm39) S88A probably benign Het
H2-M9 T C 17: 36,951,684 (GRCm39) T264A probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hsd3b6 G A 3: 98,713,601 (GRCm39) H233Y probably damaging Het
Ighv6-7 T A 12: 114,419,341 (GRCm39) R88* probably null Het
Jup C T 11: 100,269,018 (GRCm39) R465H probably damaging Het
Kif16b A T 2: 142,699,278 (GRCm39) Y101N probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Myocos T C 1: 162,484,609 (GRCm39) probably benign Het
Nav1 C T 1: 135,382,942 (GRCm39) G1197S probably damaging Het
Oas1g T G 5: 121,017,385 (GRCm39) K223T possibly damaging Het
Oprd1 G A 4: 131,844,705 (GRCm39) T101M probably damaging Het
Or51g2 T C 7: 102,623,118 (GRCm39) H27R probably damaging Het
Pcdha7 G A 18: 37,107,281 (GRCm39) C102Y probably damaging Het
Pcx T A 19: 4,670,956 (GRCm39) S1086T probably benign Het
Pde8a A G 7: 80,932,679 (GRCm39) T114A probably benign Het
Pias4 A G 10: 80,991,674 (GRCm39) probably null Het
Pkn3 G A 2: 29,980,093 (GRCm39) G750E probably damaging Het
Pramel5 G A 4: 143,999,325 (GRCm39) A254V probably benign Het
Ptprq A G 10: 107,554,368 (GRCm39) L119P probably damaging Het
Rasgrf2 A T 13: 92,160,190 (GRCm39) L395Q probably damaging Het
Rbm19 T C 5: 120,256,839 (GRCm39) S51P probably damaging Het
Rfx5 A G 3: 94,865,591 (GRCm39) T297A probably benign Het
Scaf1 T C 7: 44,658,063 (GRCm39) E272G probably damaging Het
Slc24a2 G T 4: 86,950,475 (GRCm39) Q396K probably benign Het
Slc39a14 T C 14: 70,553,250 (GRCm39) I162V probably damaging Het
Snap25 A G 2: 136,612,022 (GRCm39) D70G probably damaging Het
Spata31d1b C T 13: 59,863,535 (GRCm39) P228S probably benign Het
Sppl3 T A 5: 115,221,485 (GRCm39) probably benign Het
Sspo A G 6: 48,428,095 (GRCm39) D314G probably damaging Het
Steap1 G T 5: 5,788,829 (GRCm39) probably benign Het
Suox T A 10: 128,507,758 (GRCm39) D90V possibly damaging Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tektl1 A T 10: 78,588,698 (GRCm39) D37E probably benign Het
Tln2 G T 9: 67,239,015 (GRCm39) T1087K probably benign Het
Uap1l1 A G 2: 25,252,097 (GRCm39) S473P probably damaging Het
Xpo5 T A 17: 46,546,896 (GRCm39) N882K probably benign Het
Zfp536 A T 7: 37,178,730 (GRCm39) C228S 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
R5748:Or14c40 UTSW 7 86,313,293 (GRCm39) missense possibly damaging 0.61
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'- TTTGCTGAGACTTGGGAACTC -3'
(R):5'- GTAGGGAAGCCAGTGTCATCTG -3'

Sequencing Primer
(F):5'- TTGGGAACTCAGGATCCTACTCAG -3'
(R):5'- AGCCAGTGTCATCTGAATGC -3'
Posted On 2016-02-04