Incidental Mutation 'R6162:Or4c118'
ID 489909
Institutional Source Beutler Lab
Gene Symbol Or4c118
Ensembl Gene ENSMUSG00000075100
Gene Name olfactory receptor family 4 subfamily C member 118
Synonyms MOR233-10, Olfr1223, GA_x6K02T2Q125-50623664-50622729
MMRRC Submission 044309-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R6162 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88974430-88981680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88975114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 84 (F84L)
Ref Sequence ENSEMBL: ENSMUSP00000097381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099793] [ENSMUST00000217342]
AlphaFold A0A1L1SU13
Predicted Effect probably benign
Transcript: ENSMUST00000099793
AA Change: F84L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: F84L

DomainStartEndE-ValueType
Pfam:7tm_1 39 286 2e-26 PFAM
Pfam:7tm_4 138 283 5.6e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217342
AA Change: F84L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 98% (40/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,259,047 (GRCm39) C2924W probably damaging Het
Adh4 T A 3: 138,121,250 (GRCm39) probably null Het
Aox3 A T 1: 58,198,890 (GRCm39) D695V possibly damaging Het
Ccnj A G 19: 40,833,606 (GRCm39) Y221C probably damaging Het
Cct2 T A 10: 116,894,091 (GRCm39) D221V probably damaging Het
Cd5 G A 19: 10,703,244 (GRCm39) T138M probably damaging Het
Cep78 A T 19: 15,952,304 (GRCm39) M307K probably benign Het
Dclk1 C A 3: 55,163,575 (GRCm39) D222E probably benign Het
Dhrs11 C T 11: 84,719,605 (GRCm39) G40D probably damaging Het
Dnah10 A G 5: 124,900,382 (GRCm39) S3823G probably benign Het
Dnai3 T A 3: 145,750,617 (GRCm39) I821F probably damaging Het
Dock3 A T 9: 106,841,998 (GRCm39) Y944N possibly damaging Het
Dst A G 1: 34,045,318 (GRCm39) D17G probably damaging Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Fam20a G T 11: 109,573,696 (GRCm39) S229* probably null Het
Fbn1 T C 2: 125,202,147 (GRCm39) D1242G probably damaging Het
Ggt5 T A 10: 75,425,626 (GRCm39) V28D possibly damaging Het
Gimap4 A T 6: 48,667,655 (GRCm39) I137F probably damaging Het
Git2 T A 5: 114,899,717 (GRCm39) H212L probably damaging Het
Gprc6a T A 10: 51,491,008 (GRCm39) I739F probably benign Het
Il1rl2 A G 1: 40,391,038 (GRCm39) Y327C probably damaging Het
Lmf1 A G 17: 25,831,368 (GRCm39) I205V probably benign Het
Mipep C A 14: 61,024,853 (GRCm39) P98Q probably damaging Het
Mroh2b A G 15: 4,944,707 (GRCm39) D436G probably damaging Het
Mtcl2 T A 2: 156,881,784 (GRCm39) E756V possibly damaging Het
Myorg A G 4: 41,497,899 (GRCm39) V577A possibly damaging Het
Notch1 C T 2: 26,352,207 (GRCm39) V2035I probably benign Het
Or1e28-ps1 T A 11: 73,615,713 (GRCm39) I46F probably damaging Het
Or2ag16 A T 7: 106,352,227 (GRCm39) Y123N probably damaging Het
Oxa1l A G 14: 54,605,789 (GRCm39) T395A probably damaging Het
Phospho2 T A 2: 69,626,375 (GRCm39) I177K probably damaging Het
Prpf40a T C 2: 53,049,317 (GRCm39) T224A probably benign Het
Reln T A 5: 22,116,048 (GRCm39) T2987S probably damaging Het
Scn5a T A 9: 119,351,621 (GRCm39) I787F probably damaging Het
Sgsm2 A T 11: 74,782,847 (GRCm39) D36E probably damaging Het
Slc12a3 A G 8: 95,072,401 (GRCm39) probably null Het
Tas2r134 T C 2: 51,517,571 (GRCm39) S17P probably damaging Het
Top3a T C 11: 60,636,763 (GRCm39) Y609C probably damaging Het
Trem2 A G 17: 48,655,694 (GRCm39) I84V probably damaging Het
Vmn2r12 A G 5: 109,234,430 (GRCm39) L594P probably damaging Het
Zdbf2 A T 1: 63,319,977 (GRCm39) probably benign Het
Zfr C T 15: 12,146,331 (GRCm39) A294V unknown Het
Other mutations in Or4c118
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Or4c118 APN 2 88,974,575 (GRCm39) missense possibly damaging 0.55
IGL01560:Or4c118 APN 2 88,974,947 (GRCm39) missense probably damaging 1.00
IGL01817:Or4c118 APN 2 88,974,702 (GRCm39) missense probably benign 0.01
IGL02669:Or4c118 APN 2 88,974,564 (GRCm39) nonsense probably null
IGL03270:Or4c118 APN 2 88,975,089 (GRCm39) missense probably damaging 0.98
R0062:Or4c118 UTSW 2 88,974,966 (GRCm39) missense possibly damaging 0.95
R0062:Or4c118 UTSW 2 88,974,966 (GRCm39) missense possibly damaging 0.95
R0304:Or4c118 UTSW 2 88,975,108 (GRCm39) nonsense probably null
R1651:Or4c118 UTSW 2 88,975,346 (GRCm39) missense probably damaging 1.00
R1971:Or4c118 UTSW 2 88,975,078 (GRCm39) nonsense probably null
R2006:Or4c118 UTSW 2 88,975,241 (GRCm39) missense probably benign 0.21
R2101:Or4c118 UTSW 2 88,975,301 (GRCm39) missense probably benign 0.03
R2410:Or4c118 UTSW 2 88,974,899 (GRCm39) missense possibly damaging 0.88
R3683:Or4c118 UTSW 2 88,975,364 (GRCm39) start codon destroyed probably null 1.00
R3685:Or4c118 UTSW 2 88,975,364 (GRCm39) start codon destroyed probably null 1.00
R3939:Or4c118 UTSW 2 88,974,474 (GRCm39) nonsense probably null
R8431:Or4c118 UTSW 2 88,974,723 (GRCm39) missense probably benign 0.06
R8842:Or4c118 UTSW 2 88,975,074 (GRCm39) missense probably benign
R9631:Or4c118 UTSW 2 88,975,522 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AGGCTATCCCTACCAGAATGAC -3'
(R):5'- CTTTCACAGAACCCAAAAGTGG -3'

Sequencing Primer
(F):5'- GCTATCCCTACCAGAATGACACAGAG -3'
(R):5'- AAGTGGAGAAAATACTGTTTGTTTTG -3'
Posted On 2017-10-10