Incidental Mutation 'IGL02218:Or4d1'
ID 284991
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 # IGL02218
Quality Score
Status
Chromosome 11
Chromosomal Location 87804746-87805829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87804889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 281 (M281K)
Ref Sequence ENSEMBL: ENSMUSP00000149264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074874] [ENSMUST00000216461] [ENSMUST00000217112]
AlphaFold Q5SW48
Predicted Effect probably damaging
Transcript: ENSMUST00000074874
AA Change: M281K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074415
Gene: ENSMUSG00000060787
AA Change: M281K

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 damaging
Transcript: ENSMUST00000216461
AA Change: M281K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000217112
AA Change: M281K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,505,838 (GRCm39) D122G probably benign Het
Abcc8 T C 7: 45,769,860 (GRCm39) D885G probably benign Het
Abcf1 T C 17: 36,269,230 (GRCm39) K676R probably benign Het
Acsf2 A G 11: 94,492,589 (GRCm39) V3A probably benign Het
Apba2 C T 7: 64,345,425 (GRCm39) T205I probably benign Het
Bricd5 C A 17: 24,694,296 (GRCm39) Y171* probably null Het
Camk2d T G 3: 126,633,802 (GRCm39) N441K probably benign Het
Carm1 T C 9: 21,480,808 (GRCm39) V94A probably damaging Het
Chd3 C T 11: 69,242,920 (GRCm39) probably benign Het
Cipc A G 12: 87,008,702 (GRCm39) N166S probably damaging Het
Cln5 A C 14: 103,313,276 (GRCm39) probably null Het
Cnbd1 C A 4: 18,887,739 (GRCm39) Q258H probably benign Het
Cyp8b1 A G 9: 121,744,183 (GRCm39) L383P probably damaging Het
Dnai4 A G 4: 102,953,971 (GRCm39) V76A probably damaging Het
Dok3 A G 13: 55,671,599 (GRCm39) L324P probably damaging Het
Eftud2 A T 11: 102,761,039 (GRCm39) F102Y possibly damaging Het
Ewsr1 G A 11: 5,020,668 (GRCm39) P551S unknown Het
Fam193a G T 5: 34,600,932 (GRCm39) V346L possibly damaging Het
Golim4 A G 3: 75,785,361 (GRCm39) S677P probably damaging Het
Gpr149 A G 3: 62,437,952 (GRCm39) probably benign Het
Ins1 A T 19: 52,253,121 (GRCm39) K20N probably benign Het
Itpr2 A T 6: 146,141,760 (GRCm39) probably benign Het
Jup G A 11: 100,272,665 (GRCm39) T249I probably damaging Het
Kctd20 T A 17: 29,176,877 (GRCm39) N2K probably benign Het
Kif15 A G 9: 122,824,892 (GRCm39) probably benign Het
Klrb1-ps1 T C 6: 129,106,269 (GRCm39) noncoding transcript Het
Krtap29-1 T C 11: 99,869,884 (GRCm39) probably null Het
Lamb3 A T 1: 193,010,941 (GRCm39) probably null Het
Large1 A G 8: 73,638,750 (GRCm39) W276R probably damaging Het
Lrp1b T C 2: 41,185,684 (GRCm39) N603D probably benign Het
Lrrc37a A G 11: 103,391,207 (GRCm39) V1406A probably benign Het
Lrrc74a A G 12: 86,795,822 (GRCm39) D265G probably benign Het
Lrrfip2 G A 9: 111,048,793 (GRCm39) C250Y probably benign Het
Mbtd1 A G 11: 93,822,629 (GRCm39) probably benign Het
Msr1 A G 8: 40,042,357 (GRCm39) V406A possibly damaging Het
Mtfr1l C T 4: 134,256,491 (GRCm39) D225N probably benign Het
Nckap1l T A 15: 103,391,954 (GRCm39) S796R possibly damaging Het
Oaf T A 9: 43,136,219 (GRCm39) H119L probably benign Het
Pik3c2g A T 6: 139,806,081 (GRCm39) H516L probably damaging Het
Pkd1l3 A T 8: 110,387,434 (GRCm39) I1793F possibly damaging Het
Ptpra A G 2: 130,394,255 (GRCm39) probably benign Het
Slc25a27 C T 17: 43,974,964 (GRCm39) probably null Het
Slc2a2 A T 3: 28,752,174 (GRCm39) E3D possibly damaging Het
Slc35f5 T C 1: 125,512,292 (GRCm39) F14S probably damaging Het
Sspn T C 6: 145,907,112 (GRCm39) V105A probably damaging Het
Syvn1 T C 19: 6,100,229 (GRCm39) I263T probably damaging Het
Tek A C 4: 94,743,574 (GRCm39) D863A probably damaging Het
Tent5b C T 4: 133,213,462 (GRCm39) A111V probably damaging Het
Tm9sf4 G T 2: 153,046,536 (GRCm39) V592F probably benign Het
Tmem259 A G 10: 79,814,151 (GRCm39) M354T possibly damaging Het
Ttf2 T C 3: 100,871,409 (GRCm39) E84G possibly damaging Het
Ttyh3 T C 5: 140,612,246 (GRCm39) E487G probably damaging Het
Ubtf C A 11: 102,197,526 (GRCm39) E709* probably null Het
Vmn1r119 T C 7: 20,745,561 (GRCm39) R274G probably benign Het
Zfp804a A G 2: 82,089,546 (GRCm39) Q1125R probably damaging Het
Other mutations in Or4d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Or4d1 APN 11 87,804,998 (GRCm39) missense probably benign 0.09
IGL02011:Or4d1 APN 11 87,805,708 (GRCm39) missense probably benign 0.01
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 2015-04-16