Incidental Mutation 'R4452:Or4c124'
ID 328997
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 041713-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R4452 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89155587-89156522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89155597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 309 (D309V)
Ref Sequence ENSEMBL: ENSMUSP00000150307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099785] [ENSMUST00000213860] [ENSMUST00000215679]
AlphaFold Q8VEX7
Predicted Effect possibly damaging
Transcript: ENSMUST00000099785
AA Change: D309V

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097373
Gene: ENSMUSG00000075092
AA Change: D309V

DomainStartEndE-ValueType
Pfam:7tm_4 28 303 1.8e-49 PFAM
Pfam:7tm_1 39 286 2e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213860
AA Change: D309V

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215679
AA Change: D309V

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.3274 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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
Acsm4 A G 7: 119,297,797 (GRCm39) T145A possibly damaging Het
Adgra1 G T 7: 139,432,437 (GRCm39) A92S probably benign Het
Aim2 A G 1: 173,283,010 (GRCm39) T31A possibly damaging Het
Cd46 G A 1: 194,767,668 (GRCm39) A131V possibly damaging Het
Cdc27 A T 11: 104,408,221 (GRCm39) M563K probably benign Het
Chd9 A T 8: 91,704,308 (GRCm39) N721I probably damaging Het
Cnn2 A G 10: 79,827,276 (GRCm39) D49G probably benign Het
Cul1 T A 6: 47,485,923 (GRCm39) Y323* probably null Het
D5Ertd579e A G 5: 36,773,814 (GRCm39) W194R probably damaging Het
Dhx15 G A 5: 52,324,074 (GRCm39) P406L probably benign Het
Dnah9 C T 11: 65,917,908 (GRCm39) A2249T probably damaging Het
Dppa4 T A 16: 48,109,699 (GRCm39) D106E probably benign Het
Gja10 A G 4: 32,601,313 (GRCm39) V357A probably benign Het
Gm20481 T G 17: 35,191,109 (GRCm39) probably benign Het
Grxcr2 T C 18: 42,119,609 (GRCm39) N244D probably damaging Het
Klk1b11 T A 7: 43,645,335 (GRCm39) F3I probably damaging Het
Mid1 T C X: 168,710,421 (GRCm39) V139A possibly damaging Het
Mycbp2 T C 14: 103,393,094 (GRCm39) K3046E probably damaging Het
Nfasc T C 1: 132,562,409 (GRCm39) N122S probably damaging Het
Or11j4 A T 14: 50,630,369 (GRCm39) Y52F probably benign Het
Or52ac1 T A 7: 104,245,846 (GRCm39) M181L probably damaging Het
Or52i2 T C 7: 102,319,256 (GRCm39) V43A probably benign Het
Or8d1b T C 9: 38,887,382 (GRCm39) S137P probably benign Het
Or8h9 C T 2: 86,789,043 (GRCm39) G253D probably damaging Het
P2ry10b C T X: 106,214,724 (GRCm39) T28I probably damaging Het
Pdxdc1 T C 16: 13,654,990 (GRCm39) Y675C possibly damaging Het
Plcl1 A G 1: 55,736,045 (GRCm39) N462S probably benign Het
Ptf1a G T 2: 19,451,092 (GRCm39) A141S possibly damaging Het
Pzp A G 6: 128,468,203 (GRCm39) L1028P probably damaging Het
Qrsl1 A G 10: 43,758,158 (GRCm39) S312P probably damaging Het
Sars2 A G 7: 28,449,518 (GRCm39) T349A probably benign Het
Scarb1 A T 5: 125,377,409 (GRCm39) F208I probably damaging Het
Scn8a A G 15: 100,854,972 (GRCm39) N153S possibly damaging Het
Sema4c A T 1: 36,592,837 (GRCm39) V127D probably benign Het
Smg6 C G 11: 74,880,967 (GRCm39) S931C probably benign Het
Trpm2 A T 10: 77,759,427 (GRCm39) L1119Q probably damaging Het
Ubtd2 T A 11: 32,449,406 (GRCm39) N84K probably damaging Het
Ugt2b35 A T 5: 87,151,237 (GRCm39) H281L probably damaging Het
Umodl1 T C 17: 31,213,789 (GRCm39) probably null 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
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
R7617:Or4c124 UTSW 2 89,155,723 (GRCm39) missense probably damaging 1.00
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'- TTTCCAACTGAAAGGACATGCC -3'
(R):5'- AAGCTCTGTCTACTTGTGGGTC -3'

Sequencing Primer
(F):5'- TGAAAGGACATGCCCACTATAAAAG -3'
(R):5'- TGGGTCCCACGTTGCTG -3'
Posted On 2015-07-21