Incidental Mutation 'R1138:Or4c125'
ID 95269
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 039211-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R1138 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89169650-89172735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89170434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 71 (I71V)
Ref Sequence ENSEMBL: ENSMUSP00000149446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099784] [ENSMUST00000215469] [ENSMUST00000216561]
AlphaFold Q8VGN0
Predicted Effect probably benign
Transcript: ENSMUST00000099784
AA Change: I71V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097372
Gene: ENSMUSG00000075091
AA Change: I71V

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 benign
Transcript: ENSMUST00000215469
AA Change: I71V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000216561
AA Change: I71V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,967,497 (GRCm39) N974K probably benign Het
Brd8dc C T 18: 34,713,297 (GRCm39) V258I probably benign Het
Bub1b C T 2: 118,453,570 (GRCm39) T467I probably benign Het
Bzw1 T C 1: 58,440,545 (GRCm39) Y173H probably damaging Het
Chl1 A G 6: 103,670,140 (GRCm39) D526G probably benign Het
Dnajc22 AGACACT A 15: 99,002,308 (GRCm39) probably benign Het
Dstyk A G 1: 132,391,224 (GRCm39) N920S probably benign Het
Glra3 A G 8: 56,542,011 (GRCm39) probably null Het
Hpgd G A 8: 56,760,712 (GRCm39) M136I probably benign Het
Igfbp2 A G 1: 72,888,257 (GRCm39) D133G probably damaging Het
Lin54 A G 5: 100,591,993 (GRCm39) M642T probably damaging Het
Map7d1 T C 4: 126,135,912 (GRCm39) T99A possibly damaging Het
Mfsd4b5 C T 10: 39,851,150 (GRCm39) C35Y probably damaging Het
Mycbp2 G T 14: 103,412,262 (GRCm39) N2570K possibly damaging Het
Nr4a2 T C 2: 57,002,391 (GRCm39) S21G probably damaging Het
Oacyl T A 18: 65,858,521 (GRCm39) L209Q probably damaging Het
Pkd1 C A 17: 24,805,006 (GRCm39) N3218K probably damaging Het
Scyl3 A G 1: 163,761,234 (GRCm39) N46S possibly damaging Het
Sh2d3c G T 2: 32,639,417 (GRCm39) R349L probably benign Het
Siae G A 9: 37,553,988 (GRCm39) R366H probably damaging Het
Tmem108 T C 9: 103,376,168 (GRCm39) N427S possibly 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
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
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'- CACCATTTGCAGCAATGAGAAGACC -3'
(R):5'- TCATGGGACTGACTCAGAACCCTC -3'

Sequencing Primer
(F):5'- TCCAGAGAGTAACGAGTATCTGTCC -3'
(R):5'- TTGTCGGGACCATAGTCTGT -3'
Posted On 2014-01-05