Incidental Mutation 'IGL01353:Or4d1'
ID 75450
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4d1
Ensembl Gene ENSMUSG00000060787
Gene Name olfactory receptor family 4 subfamily D member 1
Synonyms MOR240-2, Olfr464, GA_x6K02T2PAEV-9555122-9554181
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # IGL01353
Quality Score
Status
Chromosome 11
Chromosomal Location 87804746-87805829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87804998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 245 (I245V)
Ref Sequence ENSEMBL: ENSMUSP00000149264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074874] [ENSMUST00000216461] [ENSMUST00000217112]
AlphaFold Q5SW48
Predicted Effect probably benign
Transcript: ENSMUST00000074874
AA Change: I245V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000074415
Gene: ENSMUSG00000060787
AA Change: I245V

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 4.3e-42 PFAM
Pfam:7tm_1 41 287 3.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215062
Predicted Effect probably benign
Transcript: ENSMUST00000216461
AA Change: I245V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000217112
AA Change: I245V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,242,934 (GRCm39) V1304E possibly damaging Het
Acr T C 15: 89,453,695 (GRCm39) L78P probably damaging Het
Adamts12 T C 15: 11,292,091 (GRCm39) probably benign Het
Adgrb2 T C 4: 129,906,093 (GRCm39) S872P probably damaging Het
Adhfe1 T A 1: 9,637,088 (GRCm39) N413K probably benign Het
Apoh T A 11: 108,288,211 (GRCm39) C110S probably damaging Het
Arhgap11a A G 2: 113,663,869 (GRCm39) F805L probably damaging Het
Bin3 C T 14: 70,372,275 (GRCm39) L191F possibly damaging Het
Col3a1 A G 1: 45,372,798 (GRCm39) probably benign Het
Dapp1 T C 3: 137,667,241 (GRCm39) K107R probably benign Het
Dnah5 T C 15: 28,233,418 (GRCm39) V259A probably benign Het
Dnah6 T C 6: 73,150,439 (GRCm39) M775V probably benign Het
Dnah9 A G 11: 65,971,397 (GRCm39) L1597P probably damaging Het
Elfn2 G A 15: 78,556,618 (GRCm39) A643V possibly damaging Het
Epha6 T C 16: 60,245,258 (GRCm39) T314A probably damaging Het
Fn1 C A 1: 71,626,098 (GRCm39) W2237L probably damaging Het
Foxp4 T A 17: 48,199,078 (GRCm39) D97V probably damaging Het
Kcnb2 C A 1: 15,781,048 (GRCm39) T640K probably benign Het
Lypd10 G T 7: 24,413,662 (GRCm39) S226I probably damaging Het
Miga2 G A 2: 30,261,245 (GRCm39) probably null Het
Nacad T A 11: 6,550,530 (GRCm39) Q887L possibly damaging Het
Or2m13 C T 16: 19,226,333 (GRCm39) M145I probably benign Het
Or7e173 T C 9: 19,938,343 (GRCm39) N297S probably damaging Het
Or8k24 A T 2: 86,216,365 (GRCm39) Y132* probably null Het
Otub2 A T 12: 103,370,581 (GRCm39) M288L probably benign Het
Otud4 A G 8: 80,391,650 (GRCm39) S432G probably benign Het
Pcca G A 14: 122,820,029 (GRCm39) V58I probably damaging Het
Pdpr T A 8: 111,847,910 (GRCm39) probably null Het
Pinx1 C A 14: 64,103,564 (GRCm39) Q48K probably benign Het
Pkd1l2 G T 8: 117,784,182 (GRCm39) S698R probably benign Het
Psg29 A G 7: 16,938,938 (GRCm39) R71G possibly damaging Het
Psmd3 T A 11: 98,581,426 (GRCm39) V271E probably benign Het
Smarcc1 A G 9: 109,964,734 (GRCm39) N97S probably benign Het
Sulf2 C T 2: 165,929,015 (GRCm39) G319S probably damaging Het
Tmem67 C A 4: 12,079,895 (GRCm39) C132F probably damaging Het
Ttll7 T C 3: 146,667,474 (GRCm39) L780P probably damaging Het
Vmn1r223 A G 13: 23,433,426 (GRCm39) T7A unknown Het
Vmn1r76 T G 7: 11,664,737 (GRCm39) H159P probably damaging Het
Vnn1 G A 10: 23,776,738 (GRCm39) C363Y probably damaging Het
Wdr64 T G 1: 175,559,151 (GRCm39) L305V probably damaging Het
Zkscan4 T C 13: 21,668,518 (GRCm39) L323P probably damaging Het
Zscan10 A T 17: 23,828,574 (GRCm39) H295L probably damaging Het
Other mutations in Or4d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02011:Or4d1 APN 11 87,805,708 (GRCm39) missense probably benign 0.01
IGL02218:Or4d1 APN 11 87,804,889 (GRCm39) missense probably damaging 1.00
IGL02977:Or4d1 APN 11 87,804,956 (GRCm39) missense possibly damaging 0.48
IGL03083:Or4d1 APN 11 87,804,914 (GRCm39) missense probably benign 0.00
IGL03154:Or4d1 APN 11 87,805,072 (GRCm39) missense possibly damaging 0.90
R0241:Or4d1 UTSW 11 87,804,860 (GRCm39) missense probably damaging 1.00
R0241:Or4d1 UTSW 11 87,804,860 (GRCm39) missense probably damaging 1.00
R4679:Or4d1 UTSW 11 87,805,136 (GRCm39) missense probably benign 0.13
R4734:Or4d1 UTSW 11 87,805,016 (GRCm39) missense probably damaging 1.00
R4939:Or4d1 UTSW 11 87,804,950 (GRCm39) missense probably damaging 1.00
R5917:Or4d1 UTSW 11 87,805,215 (GRCm39) missense probably damaging 1.00
R6729:Or4d1 UTSW 11 87,805,676 (GRCm39) nonsense probably null
R8289:Or4d1 UTSW 11 87,805,589 (GRCm39) missense probably benign 0.07
R8328:Or4d1 UTSW 11 87,804,985 (GRCm39) missense possibly damaging 0.50
R8363:Or4d1 UTSW 11 87,805,069 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07