Incidental Mutation 'R6375:Or14c39'
ID 514914
Institutional Source Beutler Lab
Gene Symbol Or14c39
Ensembl Gene ENSMUSG00000060688
Gene Name olfactory receptor family 14 subfamily C member 39
Synonyms Olfr292, MOR220-2, GA_x6K02T2NHDJ-9425121-9424195
MMRRC Submission 044525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R6375 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 86337549-86344592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86344267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 201 (A201V)
Ref Sequence ENSEMBL: ENSMUSP00000079060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080165]
AlphaFold F8VQ84
Predicted Effect probably benign
Transcript: ENSMUST00000080165
AA Change: A201V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000079060
Gene: ENSMUSG00000060688
AA Change: A201V

DomainStartEndE-ValueType
Pfam:7tm_4 29 305 2.6e-48 PFAM
Pfam:7tm_1 39 288 2.7e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (45/45)
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
Abca3 T A 17: 24,606,536 (GRCm39) I797N possibly damaging Het
Actbl2 A G 13: 111,392,478 (GRCm39) E271G probably damaging Het
Aplp2 T C 9: 31,069,084 (GRCm39) N526D probably benign Het
Cacna1e A C 1: 154,355,051 (GRCm39) N389K probably damaging Het
Ccdc18 T C 5: 108,322,820 (GRCm39) I640T possibly damaging Het
Ccdc39 T A 3: 33,868,516 (GRCm39) T857S probably benign Het
Ccser1 T A 6: 61,288,152 (GRCm39) L105* probably null Het
Efhc1 T A 1: 21,043,164 (GRCm39) M361K probably benign Het
Eml5 T C 12: 98,765,127 (GRCm39) Het
Fgfr2 C A 7: 129,769,475 (GRCm39) L637F probably damaging Het
Fmo9 A G 1: 166,492,164 (GRCm39) probably null Het
Gm4302 A G 10: 100,177,258 (GRCm39) T181A probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hoxb4 A G 11: 96,211,153 (GRCm39) *251W probably null Het
Il1r1 T A 1: 40,334,050 (GRCm39) Y207N probably damaging Het
Kcnc2 C T 10: 112,299,094 (GRCm39) T622M possibly damaging Het
Kcnk9 C T 15: 72,418,092 (GRCm39) A13T probably benign Het
Kdm4c C T 4: 74,248,952 (GRCm39) P69S probably damaging Het
Kmt2e T C 5: 23,704,517 (GRCm39) S1237P probably benign Het
Lrrc37a G A 11: 103,391,915 (GRCm39) T1170I probably benign Het
Lyn T A 4: 3,745,527 (GRCm39) F109I probably damaging Het
Lynx1 T C 15: 74,623,168 (GRCm39) Y88C probably damaging Het
Mon1b T A 8: 114,364,709 (GRCm39) I162N probably damaging Het
Muc4 A G 16: 32,555,061 (GRCm39) probably benign Het
Nbn T A 4: 15,979,327 (GRCm39) F437L probably benign Het
Neil3 T C 8: 54,040,311 (GRCm39) K564E possibly damaging Het
Nfe2l1 A T 11: 96,710,877 (GRCm39) S293T probably damaging Het
Or10al5 T A 17: 38,062,990 (GRCm39) S82T probably benign Het
Or2ag2 C A 7: 106,485,221 (GRCm39) A268S probably benign Het
Or51g2 T C 7: 102,622,960 (GRCm39) T80A probably damaging Het
Pcdhb22 A T 18: 37,651,357 (GRCm39) probably benign Het
Pcdhgb6 A G 18: 37,875,678 (GRCm39) N129D probably damaging Het
Pias2 C T 18: 77,240,366 (GRCm39) T574M possibly damaging Het
Plec G A 15: 76,061,840 (GRCm39) T2564I probably damaging Het
Qrich2 A G 11: 116,349,054 (GRCm39) probably benign Het
Scgb1b12 T A 7: 32,033,884 (GRCm39) V48E probably damaging Het
Scn5a A T 9: 119,372,422 (GRCm39) L224Q probably damaging Het
Snx3 T A 10: 42,410,727 (GRCm39) Y132* probably null Het
Stk39 T A 2: 68,222,582 (GRCm39) I161F probably benign Het
Tcaf2 A C 6: 42,603,112 (GRCm39) L816R probably damaging Het
Thap4 C A 1: 93,652,878 (GRCm39) probably null Het
Tmc5 T A 7: 118,256,037 (GRCm39) V704E probably damaging Het
Tmem39a A G 16: 38,405,599 (GRCm39) T59A probably benign Het
Tshz2 A G 2: 169,727,939 (GRCm39) N376S probably damaging Het
Vmn1r60 T C 7: 5,548,017 (GRCm39) N28D probably damaging Het
Zfp637 C T 6: 117,822,285 (GRCm39) R138W 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
IGL02830:Or14c39 APN 7 86,344,382 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTGGCCATCTGTAAACCTCTC -3'
(R):5'- GGTTTTAGATATACATACGCCCCAG -3'

Sequencing Primer
(F):5'- GTGATTATGACCCACCAATTCTGTG -3'
(R):5'- GATATACATACGCCCCAGAACTAAG -3'
Posted On 2018-05-04