Incidental Mutation 'R5329:Or4c125'
ID 422202
Institutional Source Beutler Lab
Gene Symbol Or4c125
Ensembl Gene ENSMUSG00000075091
Gene Name olfactory receptor family 4 subfamily C member 125
Synonyms MOR238-1, Olfr1233, GA_x6K02T2Q125-50784973-50784056
MMRRC Submission 042911-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5329 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89169650-89172735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89169803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 281 (Y281F)
Ref Sequence ENSEMBL: ENSMUSP00000149446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099784] [ENSMUST00000215469] [ENSMUST00000216561]
AlphaFold Q8VGN0
Predicted Effect probably damaging
Transcript: ENSMUST00000099784
AA Change: Y281F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097372
Gene: ENSMUSG00000075091
AA Change: Y281F

DomainStartEndE-ValueType
Pfam:7tm_4 25 299 1.1e-46 PFAM
Pfam:7tm_1 35 281 2.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215018
Predicted Effect probably damaging
Transcript: ENSMUST00000215469
AA Change: Y281F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216561
AA Change: Y281F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (61/62)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430005L14Rik G A 4: 154,044,284 (GRCm39) V32I probably benign Het
Abcg4 A T 9: 44,190,842 (GRCm39) M19K probably benign Het
Acsm1 A G 7: 119,255,274 (GRCm39) T392A probably benign Het
Adam19 A T 11: 46,015,853 (GRCm39) I338F probably damaging Het
Adamdec1 C T 14: 68,807,612 (GRCm39) M349I probably damaging Het
Arhgef11 T A 3: 87,587,059 (GRCm39) probably benign Het
Bptf T C 11: 106,964,121 (GRCm39) D1628G probably benign Het
Camk2d C T 3: 126,391,131 (GRCm39) Q15* probably null Het
Camk2g T G 14: 20,843,999 (GRCm39) D12A possibly damaging Het
Cemip2 T C 19: 21,775,693 (GRCm39) I312T probably benign Het
Cgn T C 3: 94,687,300 (GRCm39) M1V probably null Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Dcbld1 C A 10: 52,160,353 (GRCm39) probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Efcab3 T G 11: 104,644,632 (GRCm39) probably null Het
Espl1 T A 15: 102,220,953 (GRCm39) L903Q probably damaging Het
Gm5117 T A 8: 32,227,910 (GRCm39) noncoding transcript Het
Gm5150 T C 3: 16,017,588 (GRCm39) T228A probably benign Het
Gm5435 A T 12: 82,543,250 (GRCm39) noncoding transcript Het
Gpr156 T A 16: 37,825,810 (GRCm39) C676S probably benign Het
Gstt3 C T 10: 75,610,685 (GRCm39) E230K possibly damaging Het
Jarid2 A G 13: 45,059,747 (GRCm39) I660V possibly damaging Het
Kif13a A G 13: 46,928,877 (GRCm39) probably null Het
Kntc1 T A 5: 123,902,254 (GRCm39) V299D probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lipk T A 19: 33,997,613 (GRCm39) probably null Het
Loxhd1 T C 18: 77,420,378 (GRCm39) L334P probably damaging Het
Macc1 T A 12: 119,410,212 (GRCm39) Y327N probably damaging Het
Man2a2 G A 7: 80,010,876 (GRCm39) S705L possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Ncam2 A T 16: 81,231,707 (GRCm39) Q57L probably damaging Het
Nedd1 T C 10: 92,522,102 (GRCm39) E645G probably damaging Het
Nfatc1 A T 18: 80,751,332 (GRCm39) M1K probably null Het
Nlrp9b A T 7: 19,757,916 (GRCm39) R384S probably damaging Het
Nrxn3 A G 12: 89,780,354 (GRCm39) H62R possibly damaging Het
Or2h2b-ps1 T A 17: 37,480,891 (GRCm39) Y216F probably damaging Het
Or51i1 T C 7: 103,671,204 (GRCm39) H107R probably damaging Het
Or8b39 A T 9: 37,996,422 (GRCm39) M97L probably benign Het
Or8h7 A G 2: 86,720,964 (GRCm39) L185S probably damaging Het
Pdzph1 T A 17: 59,281,875 (GRCm39) I136F probably damaging Het
Pigg T C 5: 108,462,026 (GRCm39) I119T probably damaging Het
R3hdm2 A G 10: 127,294,762 (GRCm39) H215R probably damaging Het
Septin14 C T 5: 129,762,978 (GRCm39) probably null Het
Slc9a3 T C 13: 74,299,079 (GRCm39) M166T possibly damaging Het
Spock3 A G 8: 63,798,816 (GRCm39) D279G probably damaging Het
Suco T C 1: 161,660,999 (GRCm39) I967V probably damaging Het
Tgtp1 A G 11: 48,878,003 (GRCm39) L234P probably damaging Het
Tmem176a A G 6: 48,819,151 (GRCm39) D4G probably benign Het
Ugt1a10 G A 1: 88,143,976 (GRCm39) A199T probably damaging Het
Uox A G 3: 146,330,300 (GRCm39) D152G probably damaging Het
Vmn1r35 C T 6: 66,656,490 (GRCm39) W60* probably null Het
Vmn2r103 T C 17: 20,032,433 (GRCm39) C736R probably damaging Het
Other mutations in Or4c125
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01879:Or4c125 APN 2 89,170,366 (GRCm39) missense probably benign 0.01
IGL02130:Or4c125 APN 2 89,169,927 (GRCm39) missense probably damaging 1.00
IGL02264:Or4c125 APN 2 89,170,028 (GRCm39) missense probably benign 0.33
IGL03155:Or4c125 APN 2 89,170,310 (GRCm39) missense probably damaging 1.00
R0412:Or4c125 UTSW 2 89,170,422 (GRCm39) missense probably benign 0.03
R0558:Or4c125 UTSW 2 89,170,580 (GRCm39) missense probably benign 0.00
R0614:Or4c125 UTSW 2 89,170,329 (GRCm39) missense probably damaging 0.99
R1138:Or4c125 UTSW 2 89,170,434 (GRCm39) missense probably benign 0.03
R1969:Or4c125 UTSW 2 89,170,640 (GRCm39) missense probably damaging 1.00
R2192:Or4c125 UTSW 2 89,170,009 (GRCm39) nonsense probably null
R4417:Or4c125 UTSW 2 89,170,331 (GRCm39) missense probably benign 0.11
R5394:Or4c125 UTSW 2 89,169,806 (GRCm39) missense probably damaging 1.00
R5645:Or4c125 UTSW 2 89,170,049 (GRCm39) missense possibly damaging 0.94
R5949:Or4c125 UTSW 2 89,170,229 (GRCm39) missense probably damaging 1.00
R7524:Or4c125 UTSW 2 89,170,221 (GRCm39) missense probably benign 0.19
R9643:Or4c125 UTSW 2 89,170,517 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGTGCTTTGTTTTAGTAACCCAG -3'
(R):5'- ACACATAGCACTGCAGGGAG -3'

Sequencing Primer
(F):5'- CCCAGATTTCACTAAATAATGGTCAC -3'
(R):5'- GGAAAAAGGCCCTCTCTACCTGTAG -3'
Posted On 2016-08-04