Incidental Mutation 'IGL03340:Or4c124'
ID 417177
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c124
Ensembl Gene ENSMUSG00000075092
Gene Name olfactory receptor family 4 subfamily C member 124
Synonyms GA_x6K02T2Q125-50770831-50769896, MOR233-18, Olfr1232
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL03340
Quality Score
Status
Chromosome 2
Chromosomal Location 89155587-89156522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89156039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 162 (T162A)
Ref Sequence ENSEMBL: ENSMUSP00000150307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099785] [ENSMUST00000213860] [ENSMUST00000215679]
AlphaFold Q8VEX7
Predicted Effect possibly damaging
Transcript: ENSMUST00000099785
AA Change: T162A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097373
Gene: ENSMUSG00000075092
AA Change: T162A

DomainStartEndE-ValueType
Pfam:7tm_4 28 303 1.8e-49 PFAM
Pfam:7tm_1 39 286 2e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213860
AA Change: T162A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215679
AA Change: T162A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,126,786 (GRCm39) L26P probably benign Het
Aff1 A T 5: 103,931,670 (GRCm39) H104L possibly damaging Het
Apon T C 10: 128,090,847 (GRCm39) I175T probably benign Het
C2cd6 A C 1: 59,115,830 (GRCm39) F168V probably benign Het
Cgn C T 3: 94,685,405 (GRCm39) probably benign Het
Cramp1 G A 17: 25,192,516 (GRCm39) P956L probably damaging Het
Cyp2e1 G A 7: 140,344,767 (GRCm39) V78M probably damaging Het
Cyp4b1 G A 4: 115,499,076 (GRCm39) P97S probably damaging Het
Fads2 G T 19: 10,069,136 (GRCm39) P96Q possibly damaging Het
Fcer2a T C 8: 3,738,310 (GRCm39) D120G possibly damaging Het
Fhip1b A G 7: 105,038,517 (GRCm39) S241P probably damaging Het
Gm21972 G T 1: 86,061,450 (GRCm39) A887S probably damaging Het
Grk6 A G 13: 55,601,003 (GRCm39) D295G probably damaging Het
Herc2 T A 7: 55,740,668 (GRCm39) V270D possibly damaging Het
Kcnk2 T A 1: 189,027,878 (GRCm39) I126F possibly damaging Het
Kifap3 T G 1: 163,656,718 (GRCm39) V346G possibly damaging Het
Kpna1 T A 16: 35,820,616 (GRCm39) N20K probably damaging Het
Krt33b A G 11: 99,916,298 (GRCm39) probably benign Het
Krtap9-5 T C 11: 99,839,427 (GRCm39) C43R possibly damaging Het
Lars1 G A 18: 42,361,715 (GRCm39) probably benign Het
Lifr T C 15: 7,207,417 (GRCm39) W540R probably benign Het
Lrp1b A G 2: 41,358,981 (GRCm39) S631P probably damaging Het
Mbd1 G T 18: 74,407,553 (GRCm39) R111L probably benign Het
Meltf C T 16: 31,711,602 (GRCm39) T576M probably damaging Het
Mmp20 G A 9: 7,643,995 (GRCm39) G228S probably damaging Het
Mob4 A G 1: 55,175,867 (GRCm39) D37G possibly damaging Het
Msr1 T C 8: 40,073,048 (GRCm39) K234E possibly damaging Het
Myof A G 19: 37,899,607 (GRCm39) V1764A probably damaging Het
Naaladl1 A G 19: 6,156,229 (GRCm39) Y105C possibly damaging Het
Nisch A G 14: 30,895,101 (GRCm39) V1065A probably damaging Het
Npas4 A T 19: 5,035,094 (GRCm39) probably benign Het
Pdss2 A G 10: 43,269,997 (GRCm39) D280G probably benign Het
Plk3 A G 4: 116,990,125 (GRCm39) I182T probably damaging Het
Ppm1k A G 6: 57,487,711 (GRCm39) W371R probably damaging Het
Samm50 T C 15: 84,082,864 (GRCm39) probably null Het
Scaper G T 9: 55,510,116 (GRCm39) T640K possibly damaging Het
Sun3 A C 11: 8,973,285 (GRCm39) probably benign Het
Svep1 T A 4: 58,111,451 (GRCm39) K1056M possibly damaging Het
Tgs1 C A 4: 3,604,813 (GRCm39) P745Q probably benign Het
Tomm20l A T 12: 71,164,388 (GRCm39) probably benign Het
Usp38 A C 8: 81,738,905 (GRCm39) L237V probably damaging Het
Vmn1r210 T C 13: 23,011,644 (GRCm39) Y214C probably benign Het
Zan G A 5: 137,426,136 (GRCm39) P2547S unknown Het
Other mutations in Or4c124
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Or4c124 APN 2 89,156,368 (GRCm39) missense probably benign 0.00
R0800:Or4c124 UTSW 2 89,156,008 (GRCm39) missense probably benign 0.04
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
Posted On 2016-08-02