Incidental Mutation 'IGL02830:Or14c39'
ID 361373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or14c39
Ensembl Gene ENSMUSG00000060688
Gene Name olfactory receptor family 14 subfamily C member 39
Synonyms Olfr292, MOR220-2, GA_x6K02T2NHDJ-9425121-9424195
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL02830
Quality Score
Status
Chromosome 7
Chromosomal Location 86337549-86344592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 86344382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 239 (C239W)
Ref Sequence ENSEMBL: ENSMUSP00000079060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080165]
AlphaFold F8VQ84
Predicted Effect probably damaging
Transcript: ENSMUST00000080165
AA Change: C239W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079060
Gene: ENSMUSG00000060688
AA Change: C239W

DomainStartEndE-ValueType
Pfam:7tm_4 29 305 2.6e-48 PFAM
Pfam:7tm_1 39 288 2.7e-22 PFAM
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T A 17: 48,348,235 (GRCm39) E67D possibly damaging Het
Acad11 T A 9: 103,953,118 (GRCm39) F116I probably damaging Het
Acox2 G A 14: 8,255,298 (GRCm38) T160I probably damaging Het
Anxa7 A T 14: 20,506,608 (GRCm39) M444K possibly damaging Het
Atg2a A G 19: 6,297,711 (GRCm39) D423G probably benign Het
Cela3a T C 4: 137,128,946 (GRCm39) N282S probably benign Het
Cyp2c50 G A 19: 40,086,500 (GRCm39) V296I probably benign Het
Fcgbpl1 C A 7: 27,862,348 (GRCm39) H2471Q probably damaging Het
Fgd3 A G 13: 49,418,107 (GRCm39) probably benign Het
Gfus C T 15: 75,797,437 (GRCm39) V275I probably benign Het
Gimap8 G A 6: 48,633,239 (GRCm39) A353T probably benign Het
Grin3a T A 4: 49,702,787 (GRCm39) M900L possibly damaging Het
H1f0 T G 15: 78,913,511 (GRCm39) probably benign Het
Heatr1 T C 13: 12,441,093 (GRCm39) V1456A possibly damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Kbtbd3 T A 9: 4,330,096 (GRCm39) S157T possibly damaging Het
Kif19a C T 11: 114,672,034 (GRCm39) T207M probably damaging Het
Klc1 T C 12: 111,743,341 (GRCm39) Y223H probably damaging Het
Klhl33 C T 14: 51,129,214 (GRCm39) V672M probably damaging Het
Lrrc49 G A 9: 60,592,393 (GRCm39) L34F probably damaging Het
Nalcn C T 14: 123,530,881 (GRCm39) V1386I probably damaging Het
Or4b13 A T 2: 90,083,125 (GRCm39) I69N probably damaging Het
Or51b6 C T 7: 103,555,651 (GRCm39) P2S probably benign Het
Or5ac19 A G 16: 59,089,416 (GRCm39) S205P possibly damaging Het
Orc5 A T 5: 22,734,265 (GRCm39) L173Q probably damaging Het
Otud4 T G 8: 80,399,930 (GRCm39) D880E probably benign Het
Pde12 T C 14: 26,389,740 (GRCm39) Y323C probably damaging Het
Pde8b G T 13: 95,189,409 (GRCm39) D198E probably benign Het
Prom2 T A 2: 127,376,989 (GRCm39) I542F possibly damaging Het
Ptprj G A 2: 90,283,488 (GRCm39) T952I probably benign Het
Ribc2 T A 15: 85,016,458 (GRCm39) probably benign Het
Sec31b C T 19: 44,520,142 (GRCm39) R214K probably damaging Het
Senp5 G A 16: 31,802,303 (GRCm39) probably benign Het
Sh3pxd2a G A 19: 47,271,517 (GRCm39) R249W probably damaging Het
Sorcs3 G A 19: 48,711,441 (GRCm39) probably null Het
Spata31d1c A G 13: 65,183,180 (GRCm39) T241A probably benign Het
Tac1 G A 6: 7,555,650 (GRCm39) V13I probably benign Het
Tnnc2 T A 2: 164,619,430 (GRCm39) D138V probably null Het
Tspan32 T A 7: 142,571,329 (GRCm39) M159K possibly damaging Het
Ttc28 A T 5: 111,434,105 (GRCm39) T2380S probably benign Het
Ubc T A 5: 125,464,377 (GRCm39) I317F probably damaging Het
Usp24 T C 4: 106,204,584 (GRCm39) S268P possibly damaging Het
Vmn2r91 C A 17: 18,356,884 (GRCm39) H850Q probably benign Het
Xrn1 T C 9: 95,900,234 (GRCm39) probably null Het
Zfp329 A C 7: 12,544,043 (GRCm39) C494G probably damaging Het
Zfp54 T C 17: 21,653,718 (GRCm39) S71P probably damaging Het
Other mutations in Or14c39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Or14c39 APN 7 86,344,501 (GRCm39) missense probably benign 0.10
IGL01751:Or14c39 APN 7 86,343,997 (GRCm39) missense probably benign
IGL02417:Or14c39 APN 7 86,344,027 (GRCm39) missense probably damaging 1.00
IGL02534:Or14c39 APN 7 86,343,939 (GRCm39) missense probably benign 0.17
R0281:Or14c39 UTSW 7 86,344,068 (GRCm39) missense probably benign 0.00
R0423:Or14c39 UTSW 7 86,344,434 (GRCm39) missense possibly damaging 0.95
R0555:Or14c39 UTSW 7 86,344,516 (GRCm39) missense probably damaging 1.00
R0609:Or14c39 UTSW 7 86,344,084 (GRCm39) missense possibly damaging 0.85
R0662:Or14c39 UTSW 7 86,343,838 (GRCm39) missense possibly damaging 0.88
R1710:Or14c39 UTSW 7 86,344,318 (GRCm39) missense probably benign 0.00
R2144:Or14c39 UTSW 7 86,344,488 (GRCm39) missense probably damaging 0.98
R4400:Or14c39 UTSW 7 86,343,798 (GRCm39) missense probably benign 0.10
R4615:Or14c39 UTSW 7 86,343,936 (GRCm39) missense probably damaging 1.00
R4762:Or14c39 UTSW 7 86,344,329 (GRCm39) missense probably benign 0.01
R4785:Or14c39 UTSW 7 86,343,736 (GRCm39) missense probably damaging 1.00
R4823:Or14c39 UTSW 7 86,343,796 (GRCm39) missense probably damaging 0.99
R4908:Or14c39 UTSW 7 86,344,395 (GRCm39) missense probably benign 0.00
R4983:Or14c39 UTSW 7 86,343,687 (GRCm39) missense probably benign 0.01
R5010:Or14c39 UTSW 7 86,343,793 (GRCm39) missense possibly damaging 0.95
R5024:Or14c39 UTSW 7 86,344,089 (GRCm39) missense probably benign 0.05
R5157:Or14c39 UTSW 7 86,344,440 (GRCm39) missense probably benign 0.19
R5627:Or14c39 UTSW 7 86,344,347 (GRCm39) missense possibly damaging 0.93
R6327:Or14c39 UTSW 7 86,343,760 (GRCm39) missense probably benign 0.09
R6375:Or14c39 UTSW 7 86,344,267 (GRCm39) missense probably benign 0.01
R6775:Or14c39 UTSW 7 86,344,357 (GRCm39) missense probably benign 0.02
R7257:Or14c39 UTSW 7 86,344,012 (GRCm39) missense probably damaging 0.99
R7383:Or14c39 UTSW 7 86,343,960 (GRCm39) missense probably damaging 0.97
R8475:Or14c39 UTSW 7 86,344,361 (GRCm39) missense probably benign 0.21
R9034:Or14c39 UTSW 7 86,343,969 (GRCm39) missense probably benign 0.41
R9134:Or14c39 UTSW 7 86,344,588 (GRCm39) nonsense probably null
R9588:Or14c39 UTSW 7 86,343,948 (GRCm39) missense probably damaging 1.00
R9777:Or14c39 UTSW 7 86,343,988 (GRCm39) missense probably benign 0.12
Posted On 2015-12-18