Incidental Mutation 'R5949:Or4c125'
ID 472311
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 044139-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5949 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89169650-89172735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89170229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 139 (V139A)
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: V139A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097372
Gene: ENSMUSG00000075091
AA Change: V139A

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: V139A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000216561
AA Change: V139A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 92% (58/63)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,655,032 (GRCm39) Y1452C probably damaging Het
Adcy10 A T 1: 165,367,386 (GRCm39) H552L possibly damaging Het
Alms1-ps1 A T 6: 85,698,943 (GRCm39) noncoding transcript Het
Arhgap21 A G 2: 20,853,852 (GRCm39) S1837P probably damaging Het
Atad5 G T 11: 79,986,835 (GRCm39) E641* probably null Het
Atp8b4 T A 2: 126,247,242 (GRCm39) T276S probably benign Het
Bptf A G 11: 107,001,915 (GRCm39) I399T probably damaging Het
Carf A C 1: 60,178,472 (GRCm39) K295T probably damaging Het
Cd209d T A 8: 3,927,949 (GRCm39) N52Y possibly damaging Het
Cdh2 T A 18: 16,734,687 (GRCm39) I779F probably damaging Het
Cdon G A 9: 35,398,247 (GRCm39) R988H probably benign Het
Cfhr4 A T 1: 139,660,887 (GRCm39) H600Q probably damaging Het
Cic C T 7: 24,971,730 (GRCm39) T487M probably damaging Het
Dcps A G 9: 35,036,557 (GRCm39) probably benign Het
Ddx41 A G 13: 55,679,874 (GRCm39) C427R probably damaging Het
Diras2 T C 13: 52,661,747 (GRCm39) K187E possibly damaging Het
Emb A G 13: 117,403,928 (GRCm39) I227V probably benign Het
Fam193a T A 5: 34,597,816 (GRCm39) S538T possibly damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Galnt6 A T 15: 100,594,431 (GRCm39) N533K probably damaging Het
Grip1 A G 10: 119,886,147 (GRCm39) D499G probably benign Het
Ifih1 T C 2: 62,440,904 (GRCm39) N421D probably benign Het
Ifng G C 10: 118,278,529 (GRCm39) M63I probably benign Het
Ighv1-43 A G 12: 114,910,002 (GRCm39) M1T probably null Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Krt87 A T 15: 101,385,476 (GRCm39) C299S probably damaging Het
Lrrn1 G T 6: 107,544,465 (GRCm39) V88L probably benign Het
Mapkapk2 A G 1: 130,985,742 (GRCm39) V173A possibly damaging Het
Mrap2 T G 9: 87,064,658 (GRCm39) V133G probably benign Het
Nlrp1a T A 11: 70,989,815 (GRCm39) D984V probably damaging Het
Or5p59 T C 7: 107,703,404 (GRCm39) L296P probably damaging Het
Pcdh17 T C 14: 84,684,996 (GRCm39) Y488H probably damaging Het
Pih1d2 C T 9: 50,536,284 (GRCm39) P313L probably damaging Het
Ralgapb T C 2: 158,296,179 (GRCm39) C839R probably damaging Het
Rdh5 C A 10: 128,754,136 (GRCm39) R29L probably benign Het
Rfx6 A G 10: 51,554,429 (GRCm39) D90G probably benign Het
Rnf213 A G 11: 119,333,905 (GRCm39) Y3038C probably damaging Het
Sec14l2 A T 11: 4,058,972 (GRCm39) V191D probably damaging Het
Slc3a2 T C 19: 8,690,759 (GRCm39) Y118C probably damaging Het
Sorbs2 T C 8: 46,222,934 (GRCm39) probably null Het
Stab2 A G 10: 86,805,713 (GRCm39) L211P possibly damaging Het
Tbc1d9b T C 11: 50,038,876 (GRCm39) C289R probably benign Het
Tfpi T C 2: 84,275,092 (GRCm39) E172G probably benign Het
Tmem106b T A 6: 13,083,418 (GRCm39) M229K probably damaging Het
Tsfm G A 10: 126,864,244 (GRCm39) T157M probably damaging Het
Tshr G A 12: 91,503,992 (GRCm39) R310H probably damaging Het
Ttn G A 2: 76,608,244 (GRCm39) A17893V possibly damaging Het
Vps39 A G 2: 120,159,149 (GRCm39) Y380H probably benign Het
Xylt2 G A 11: 94,559,309 (GRCm39) R383C probably damaging Het
Zfp719 C T 7: 43,233,541 (GRCm39) probably benign 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
R5329:Or4c125 UTSW 2 89,169,803 (GRCm39) missense probably damaging 1.00
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
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'- ACCACCATTTGCAGCAATGAG -3'
(R):5'- TGATAGATGCATGCTATTCCTCTTC -3'

Sequencing Primer
(F):5'- CATTTGCAGCAATGAGAAGACC -3'
(R):5'- CCTAAGATGCTAGCAGATTTGATGTC -3'
Posted On 2017-03-31