Incidental Mutation 'R0800:Or4c124'
ID 76217
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 038980-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R0800 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89155587-89156522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89156008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 172 (V172A)
Ref Sequence ENSEMBL: ENSMUSP00000150307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099785] [ENSMUST00000213860] [ENSMUST00000215679]
AlphaFold Q8VEX7
Predicted Effect probably benign
Transcript: ENSMUST00000099785
AA Change: V172A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097373
Gene: ENSMUSG00000075092
AA Change: V172A

DomainStartEndE-ValueType
Pfam:7tm_4 28 303 1.8e-49 PFAM
Pfam:7tm_1 39 286 2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213860
AA Change: V172A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000215679
AA Change: V172A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Meta Mutation Damage Score 0.4569 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.7%
Validation Efficiency 98% (52/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B230217C12Rik T C 11: 97,732,086 (GRCm39) probably benign Het
Cacna1g T C 11: 94,317,265 (GRCm39) D1498G probably damaging Het
Ces3b T A 8: 105,811,901 (GRCm39) D103E possibly damaging Het
Chd5 A G 4: 152,440,614 (GRCm39) Y158C probably damaging Het
Cic A G 7: 24,984,662 (GRCm39) T1033A probably benign Het
Cst13 A T 2: 148,672,247 (GRCm39) I141F possibly damaging Het
Dnah7a A G 1: 53,604,855 (GRCm39) L1301P probably damaging Het
Dnah8 T A 17: 30,923,636 (GRCm39) F1201L probably benign Het
Dok7 T C 5: 35,232,633 (GRCm39) probably benign Het
Dzip3 A G 16: 48,774,171 (GRCm39) probably benign Het
Eml6 A G 11: 29,699,877 (GRCm39) V1753A probably benign Het
Fer1l4 A G 2: 155,887,583 (GRCm39) F538L possibly damaging Het
Fmo2 C T 1: 162,704,383 (GRCm39) D508N probably benign Het
Gabpb1 A T 2: 126,472,248 (GRCm39) Y351N probably damaging Het
Gnaq T A 19: 16,312,428 (GRCm39) V230E probably damaging Het
Gprc5c A C 11: 114,757,537 (GRCm39) K48Q probably damaging Het
Gzmd A G 14: 56,369,948 (GRCm39) L11P unknown Het
Hbq1b A C 11: 32,237,581 (GRCm39) H123P probably damaging Het
Hibadh T A 6: 52,533,490 (GRCm39) I209F probably damaging Het
Il17f G T 1: 20,848,177 (GRCm39) C100* probably null Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Itga8 A T 2: 12,198,362 (GRCm39) V541E possibly damaging Het
Kifc5b T A 17: 27,142,158 (GRCm39) V212D probably benign Het
Klra2 A T 6: 131,207,137 (GRCm39) Y157* probably null Het
Kprp T C 3: 92,732,342 (GRCm39) Y236C unknown Het
Mmp12 A T 9: 7,357,827 (GRCm39) M414L possibly damaging Het
Myh6 A G 14: 55,190,735 (GRCm39) probably benign Het
Nlgn2 A G 11: 69,716,823 (GRCm39) F573L possibly damaging Het
Or10j7 C T 1: 173,011,627 (GRCm39) A125T probably damaging Het
Pakap T A 4: 57,709,650 (GRCm39) D198E probably benign Het
Papss1 T A 3: 131,305,615 (GRCm39) probably benign Het
Parp4 A G 14: 56,827,408 (GRCm39) T181A probably benign Het
Piwil2 A T 14: 70,646,486 (GRCm39) probably benign Het
Pla2g12b A G 10: 59,239,642 (GRCm39) N17S probably benign Het
Polr3c C A 3: 96,626,627 (GRCm39) V266L probably damaging Het
Pou3f3 A G 1: 42,737,527 (GRCm39) T408A probably damaging Het
Pskh1 A G 8: 106,640,238 (GRCm39) Y306C probably damaging Het
Rom1 T A 19: 8,906,272 (GRCm39) D89V probably damaging Het
Sell T A 1: 163,893,770 (GRCm39) probably null Het
Sox6 A G 7: 115,178,249 (GRCm39) probably null Het
Speg T C 1: 75,400,133 (GRCm39) S2527P probably damaging Het
Stat3 A G 11: 100,784,981 (GRCm39) probably benign Het
Stra6l A G 4: 45,882,797 (GRCm39) T503A probably benign Het
Tapbp A G 17: 34,145,227 (GRCm39) T375A probably benign Het
Tgm6 G A 2: 129,985,342 (GRCm39) V382M possibly damaging Het
Trappc9 A T 15: 72,824,981 (GRCm39) probably benign Het
Txlnb A G 10: 17,675,240 (GRCm39) N131S possibly damaging Het
Usp19 A G 9: 108,372,353 (GRCm39) E469G probably damaging Het
Vmn2r17 T A 5: 109,575,192 (GRCm39) probably benign Het
Zfp750 T C 11: 121,402,838 (GRCm39) T637A probably benign Het
Zhx2 A C 15: 57,686,124 (GRCm39) I498L 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
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
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'- GCAACGTGGGACCCACAAGTAG -3'
(R):5'- TGCAACTATGGGGAGCAACATGATG -3'

Sequencing Primer
(F):5'- GGACCCACAAGTAGACAGAGC -3'
(R):5'- TGAGATGATTCTTCTGACAGCC -3'
Posted On 2013-10-16