Incidental Mutation 'R7617:Or4c124'
ID 588944
Institutional Source Beutler Lab
Gene Symbol Or4c124
Ensembl Gene ENSMUSG00000075092
Gene Name olfactory receptor family 4 subfamily C member 124
Synonyms GA_x6K02T2Q125-50770831-50769896, MOR233-18, Olfr1232
MMRRC Submission 045684-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R7617 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89155587-89156522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89155723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 267 (D267V)
Ref Sequence ENSEMBL: ENSMUSP00000150860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099785] [ENSMUST00000213860] [ENSMUST00000215679]
AlphaFold Q8VEX7
Predicted Effect probably damaging
Transcript: ENSMUST00000099785
AA Change: D267V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097373
Gene: ENSMUSG00000075092
AA Change: D267V

DomainStartEndE-ValueType
Pfam:7tm_4 28 303 1.8e-49 PFAM
Pfam:7tm_1 39 286 2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213860
AA Change: D267V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215679
AA Change: D267V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (41/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,102,694 (GRCm39) Y864* probably null Het
Abhd2 T C 7: 78,998,032 (GRCm39) M188T probably benign Het
Adamtsl3 T A 7: 82,206,054 (GRCm39) probably null Het
Ankrd36 G T 11: 5,637,348 (GRCm39) V1306L probably benign Het
Ankrd50 C A 3: 38,538,831 (GRCm39) probably benign Het
Btbd2 T C 10: 80,482,226 (GRCm39) D258G probably damaging Het
Cabin1 C T 10: 75,568,277 (GRCm39) R75K possibly damaging Het
Carmil3 A G 14: 55,735,348 (GRCm39) N507S probably benign Het
Cntn1 A G 15: 92,143,970 (GRCm39) E311G probably damaging Het
Csnk1a1 T C 18: 61,718,387 (GRCm39) M371T unknown Het
Dnah1 A T 14: 31,006,739 (GRCm39) V2192E possibly damaging Het
Entrep3 T A 3: 89,092,278 (GRCm39) I199N probably damaging Het
Grip2 A C 6: 91,742,031 (GRCm39) probably null Het
Gxylt2 G T 6: 100,760,146 (GRCm39) W227L probably damaging Het
Ighv6-5 G T 12: 114,380,626 (GRCm39) probably benign Het
Jak1 T A 4: 101,031,408 (GRCm39) probably null Het
Jakmip1 A G 5: 37,328,345 (GRCm39) D393G possibly damaging Het
Klf10 A T 15: 38,297,080 (GRCm39) V320E probably damaging Het
Krt87 A T 15: 101,336,426 (GRCm39) C76S probably benign Het
Myh1 A G 11: 67,106,701 (GRCm39) D1261G possibly damaging Het
Myo18b A C 5: 112,905,319 (GRCm39) probably null Het
Oxct2a A C 4: 123,217,150 (GRCm39) L77R probably damaging Het
P2rx2 A T 5: 110,489,950 (GRCm39) C172S probably damaging Het
P3h3 A G 6: 124,832,969 (GRCm39) Y195H probably damaging Het
Pex11b T C 3: 96,544,107 (GRCm39) probably null Het
Ppm1j T A 3: 104,691,059 (GRCm39) Y274* probably null Het
Scn9a A T 2: 66,370,893 (GRCm39) D562E possibly damaging Het
Slc14a2 A G 18: 78,203,156 (GRCm39) V557A probably benign Het
Slc9b2 T C 3: 135,042,221 (GRCm39) I500T probably damaging Het
Sult2a3 C T 7: 13,806,981 (GRCm39) V234I probably benign Het
Tcp10c T G 17: 13,576,100 (GRCm39) L27V probably damaging Het
Tktl2 A G 8: 66,965,651 (GRCm39) D403G probably benign Het
Tmprss13 G A 9: 45,244,858 (GRCm39) W212* probably null Het
Tspoap1 T G 11: 87,654,451 (GRCm39) S244A probably benign Het
Upb1 A C 10: 75,260,368 (GRCm39) T136P probably benign Het
Wdr25 G A 12: 108,958,819 (GRCm39) G344S possibly damaging Het
Wwp1 T C 4: 19,662,188 (GRCm39) T136A probably benign Het
Zfp354a A G 11: 50,960,751 (GRCm39) T320A probably benign Het
Zfyve16 A G 13: 92,641,070 (GRCm39) Y1225H probably damaging Het
Other mutations in Or4c124
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Or4c124 APN 2 89,156,368 (GRCm39) missense probably benign 0.00
IGL03340:Or4c124 APN 2 89,156,039 (GRCm39) missense possibly damaging 0.95
R0800:Or4c124 UTSW 2 89,156,008 (GRCm39) missense probably benign 0.04
R1739:Or4c124 UTSW 2 89,155,910 (GRCm39) missense probably benign 0.05
R1773:Or4c124 UTSW 2 89,156,086 (GRCm39) missense probably benign 0.23
R3810:Or4c124 UTSW 2 89,156,098 (GRCm39) missense probably benign 0.08
R4452:Or4c124 UTSW 2 89,155,597 (GRCm39) missense possibly damaging 0.81
R6197:Or4c124 UTSW 2 89,155,677 (GRCm39) missense probably damaging 1.00
R7252:Or4c124 UTSW 2 89,156,629 (GRCm39) start gained probably benign
R7267:Or4c124 UTSW 2 89,156,157 (GRCm39) nonsense probably null
R7422:Or4c124 UTSW 2 89,156,423 (GRCm39) missense probably benign 0.06
R9127:Or4c124 UTSW 2 89,156,474 (GRCm39) nonsense probably null
R9642:Or4c124 UTSW 2 89,155,907 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- TGCCTCTTCTTGAGAACTGC -3'
(R):5'- CCGACACTCACATCTTTGGC -3'

Sequencing Primer
(F):5'- GCCTCTTCTTGAGAACTGCATTAAC -3'
(R):5'- CCTTTTTGTGGTGGCCAACAG -3'
Posted On 2019-10-24