Incidental Mutation 'IGL00481:Or4d2'
ID 12848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4d2
Ensembl Gene ENSMUSG00000093920
Gene Name olfactory receptor family 4 subfamily D member 2
Synonyms MOR240-1, GA_x6K02T2PAEV-9540823-9539888, Olfr463
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # IGL00481
Quality Score
Status
Chromosome 11
Chromosomal Location 87783813-87784748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87784447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 101 (I101T)
Ref Sequence ENSEMBL: ENSMUSP00000149255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049743] [ENSMUST00000081417] [ENSMUST00000213672] [ENSMUST00000213928] [ENSMUST00000215150] [ENSMUST00000217095]
AlphaFold Q5SW49
Predicted Effect probably benign
Transcript: ENSMUST00000049743
SMART Domains Protein: ENSMUSP00000055334
Gene: ENSMUSG00000093839

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 1.2e-40 PFAM
Pfam:7tm_1 41 287 1.8e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000081417
AA Change: I101T

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080146
Gene: ENSMUSG00000093920
AA Change: I101T

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 6.3e-41 PFAM
Pfam:7tm_1 41 287 8.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213672
Predicted Effect probably benign
Transcript: ENSMUST00000213928
Predicted Effect possibly damaging
Transcript: ENSMUST00000215150
AA Change: I101T

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217095
AA Change: I101T

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,240,969 (GRCm39) L944P probably damaging Het
Akap13 A G 7: 75,373,643 (GRCm39) S1885G probably damaging Het
Aqp3 A G 4: 41,093,632 (GRCm39) Y261H probably damaging Het
Arap2 A T 5: 62,793,305 (GRCm39) N1380K probably damaging Het
Barx2 T C 9: 31,758,141 (GRCm39) I266V unknown Het
BC034090 C T 1: 155,108,267 (GRCm39) R360H probably benign Het
Bmal2 T A 6: 146,711,164 (GRCm39) M56K probably benign Het
Ccnb2 T C 9: 70,326,189 (GRCm39) K52E probably damaging Het
Ccp110 G A 7: 118,329,220 (GRCm39) V868I possibly damaging Het
Cfap300 T C 9: 8,042,432 (GRCm39) Y57C probably damaging Het
Cyld G T 8: 89,433,918 (GRCm39) V236F probably damaging Het
Dst T C 1: 34,208,410 (GRCm39) probably benign Het
Ehmt1 G T 2: 24,728,830 (GRCm39) A637E possibly damaging Het
Erlin1 G T 19: 44,057,758 (GRCm39) Y22* probably null Het
Ezh1 A T 11: 101,090,128 (GRCm39) M539K possibly damaging Het
Fancc A T 13: 63,548,059 (GRCm39) I80N probably damaging Het
Fat1 G A 8: 45,503,977 (GRCm39) S4447N probably benign Het
Fem1al A G 11: 29,774,755 (GRCm39) L234P probably damaging Het
Fhip2a A G 19: 57,369,777 (GRCm39) E440G probably benign Het
Frem3 A G 8: 81,395,439 (GRCm39) Q1822R possibly damaging Het
Iqgap1 C T 7: 80,409,592 (GRCm39) V248I probably benign Het
Itch T C 2: 155,054,943 (GRCm39) I749T probably damaging Het
Kcna10 T A 3: 107,102,830 (GRCm39) M487K probably benign Het
Krt87 A T 15: 101,386,092 (GRCm39) L223Q probably benign Het
Mtmr2 T C 9: 13,697,212 (GRCm39) I84T probably benign Het
Myocd G A 11: 65,077,980 (GRCm39) T477M probably damaging Het
Nfic A T 10: 81,244,054 (GRCm39) V240E possibly damaging Het
Prkdc A T 16: 15,608,330 (GRCm39) Y3044F probably benign Het
Prkg1 A G 19: 30,549,022 (GRCm39) I636T probably benign Het
Ptpru A G 4: 131,535,546 (GRCm39) V477A probably benign Het
Rab7b T A 1: 131,626,329 (GRCm39) M119K possibly damaging Het
Sec61a1 T C 6: 88,483,922 (GRCm39) probably benign Het
Sectm1b A G 11: 120,946,799 (GRCm39) V32A probably benign Het
Shroom2 A G X: 151,406,219 (GRCm39) S1034P probably benign Het
Sipa1l3 A T 7: 29,085,533 (GRCm39) I688N probably damaging Het
Slc24a1 T C 9: 64,835,301 (GRCm39) Y942C probably damaging Het
Smg1 C T 7: 117,810,017 (GRCm39) R139K possibly damaging Het
Stt3b G A 9: 115,080,915 (GRCm39) T574I probably benign Het
Thoc2 A G X: 40,968,768 (GRCm39) I76T possibly damaging Het
Tpm3 C T 3: 89,995,024 (GRCm39) T180M probably damaging Het
Uqcrfs1 C A 13: 30,724,908 (GRCm39) V211F probably benign Het
Usp47 A G 7: 111,673,990 (GRCm39) S418G probably benign Het
Usp5 T C 6: 124,806,316 (GRCm39) T15A probably benign Het
Vps13c T C 9: 67,768,147 (GRCm39) L122P probably damaging Het
Zfp677 A T 17: 21,617,930 (GRCm39) E329V probably benign Het
Zfyve16 A T 13: 92,653,046 (GRCm39) N846K possibly damaging Het
Zp1 G T 19: 10,896,141 (GRCm39) P195T probably damaging Het
Other mutations in Or4d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Or4d2 APN 11 87,784,191 (GRCm39) missense possibly damaging 0.46
R0463:Or4d2 UTSW 11 87,784,022 (GRCm39) missense probably damaging 1.00
R0608:Or4d2 UTSW 11 87,784,022 (GRCm39) missense probably damaging 1.00
R2984:Or4d2 UTSW 11 87,784,572 (GRCm39) missense possibly damaging 0.90
R3055:Or4d2 UTSW 11 87,784,198 (GRCm39) missense possibly damaging 0.95
R5276:Or4d2 UTSW 11 87,784,018 (GRCm39) missense probably damaging 1.00
R5517:Or4d2 UTSW 11 87,783,892 (GRCm39) missense probably damaging 1.00
R5540:Or4d2 UTSW 11 87,784,511 (GRCm39) nonsense probably null
R5934:Or4d2 UTSW 11 87,784,049 (GRCm39) missense possibly damaging 0.73
R6002:Or4d2 UTSW 11 87,784,633 (GRCm39) missense probably damaging 0.99
R6602:Or4d2 UTSW 11 87,784,478 (GRCm39) missense probably benign 0.02
R8975:Or4d2 UTSW 11 87,784,645 (GRCm39) missense probably damaging 0.99
R9495:Or4d2 UTSW 11 87,784,082 (GRCm39) missense probably benign 0.07
Posted On 2012-12-06