Incidental Mutation 'IGL00924:Or4c104'
ID 26884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c104
Ensembl Gene ENSMUSG00000089892
Gene Name olfactory receptor family 4 subfamily C member 104
Synonyms GA_x6K02T2Q125-50231574-50230642, Olfr1199, MOR230-8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL00924
Quality Score
Status
Chromosome 2
Chromosomal Location 88586085-88590829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88586500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 173 (D173G)
Ref Sequence ENSEMBL: ENSMUSP00000149809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099813] [ENSMUST00000124021] [ENSMUST00000131038] [ENSMUST00000213138] [ENSMUST00000215179] [ENSMUST00000215529]
AlphaFold Q8VF94
Predicted Effect possibly damaging
Transcript: ENSMUST00000099813
AA Change: D173G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097401
Gene: ENSMUSG00000089892
AA Change: D173G

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 4.4e-48 PFAM
Pfam:7tm_1 39 285 4.4e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000124021
AA Change: D173G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000131038
AA Change: D173G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213138
AA Change: D173G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000215179
Predicted Effect probably benign
Transcript: ENSMUST00000215529
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,255,021 (GRCm39) V112A probably benign Het
Atp1a4 T A 1: 172,074,339 (GRCm39) I305F probably damaging Het
AW209491 A G 13: 14,811,660 (GRCm39) N171S probably damaging Het
Bank1 G T 3: 135,953,395 (GRCm39) A120E probably damaging Het
Bdp1 T A 13: 100,234,087 (GRCm39) E206D possibly damaging Het
Brd1 T C 15: 88,613,612 (GRCm39) K428E possibly damaging Het
Ccdc42 A G 11: 68,485,447 (GRCm39) I191V probably benign Het
Coa7 G T 4: 108,195,505 (GRCm39) G145C possibly damaging Het
Cpm T G 10: 117,511,971 (GRCm39) I305S probably damaging Het
Cracd A G 5: 77,006,833 (GRCm39) T1065A unknown Het
Dlc1 A T 8: 37,405,368 (GRCm39) S140R probably benign Het
Dnajc14 A G 10: 128,653,188 (GRCm39) T674A probably benign Het
Dnajc7 A G 11: 100,475,111 (GRCm39) I437T possibly damaging Het
Entpd5 A T 12: 84,433,828 (GRCm39) V147E probably damaging Het
Gpr139 A G 7: 118,783,510 (GRCm39) C30R probably benign Het
Habp4 A G 13: 64,321,885 (GRCm39) D174G probably damaging Het
Has3 T C 8: 107,605,231 (GRCm39) F479S probably benign Het
Helb T A 10: 119,946,889 (GRCm39) K141N probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Kdm1b G A 13: 47,221,956 (GRCm39) R465H probably benign Het
Lrrc57 A T 2: 120,436,532 (GRCm39) M86K possibly damaging Het
Map7d1 A G 4: 126,132,398 (GRCm39) V258A probably damaging Het
Mtcl2 T G 2: 156,882,625 (GRCm39) M476L probably damaging Het
Mybbp1a T A 11: 72,334,393 (GRCm39) F216Y probably damaging Het
Ncan T A 8: 70,561,039 (GRCm39) M643L possibly damaging Het
Ngdn T C 14: 55,260,626 (GRCm39) I278T probably damaging Het
Or9a4 C T 6: 40,548,388 (GRCm39) R23C probably benign Het
P4hb G T 11: 120,454,644 (GRCm39) Q245K probably benign Het
Pcx G A 19: 4,670,965 (GRCm39) V1089I probably benign Het
Phc3 A T 3: 30,990,624 (GRCm39) M498K probably damaging Het
Pkd1 T A 17: 24,790,601 (GRCm39) L1025* probably null Het
Sdhaf2 G A 19: 10,494,380 (GRCm39) P110S probably damaging Het
Slc22a20 T C 19: 6,020,544 (GRCm39) K538E probably benign Het
Spag11b T A 8: 19,192,656 (GRCm39) V78D probably damaging Het
Tgm3 T C 2: 129,880,294 (GRCm39) C367R probably damaging Het
Unc5a G A 13: 55,152,327 (GRCm39) E741K probably damaging Het
Vmn2r58 A T 7: 41,486,891 (GRCm39) L668H probably damaging Het
Wdr62 G A 7: 29,964,643 (GRCm39) T367I probably damaging Het
Wdr62 G A 7: 29,942,231 (GRCm39) P603S probably damaging Het
Xab2 G A 8: 3,661,723 (GRCm39) R577W probably damaging Het
Other mutations in Or4c104
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03197:Or4c104 APN 2 88,586,545 (GRCm39) missense probably damaging 0.99
R0282:Or4c104 UTSW 2 88,586,800 (GRCm39) missense probably damaging 1.00
R1564:Or4c104 UTSW 2 88,587,000 (GRCm39) missense possibly damaging 0.81
R1750:Or4c104 UTSW 2 88,586,117 (GRCm39) missense probably benign
R2139:Or4c104 UTSW 2 88,586,437 (GRCm39) missense probably damaging 1.00
R4059:Or4c104 UTSW 2 88,586,795 (GRCm39) missense probably benign
R4722:Or4c104 UTSW 2 88,586,356 (GRCm39) missense possibly damaging 0.47
R4787:Or4c104 UTSW 2 88,586,219 (GRCm39) nonsense probably null
R5595:Or4c104 UTSW 2 88,586,749 (GRCm39) missense probably damaging 0.97
R6522:Or4c104 UTSW 2 88,586,452 (GRCm39) missense probably damaging 0.99
R6825:Or4c104 UTSW 2 88,586,255 (GRCm39) missense possibly damaging 0.78
R8205:Or4c104 UTSW 2 88,587,016 (GRCm39) start codon destroyed probably null 0.94
R8302:Or4c104 UTSW 2 88,586,987 (GRCm39) missense possibly damaging 0.70
R8413:Or4c104 UTSW 2 88,587,024 (GRCm39) start gained probably benign
R9400:Or4c104 UTSW 2 88,586,293 (GRCm39) missense possibly damaging 0.50
R9560:Or4c104 UTSW 2 88,586,290 (GRCm39) missense possibly damaging 0.56
Z1176:Or4c104 UTSW 2 88,586,141 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17