Incidental Mutation 'IGL02304:Olfr731'
ID287524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr731
Ensembl Gene ENSMUSG00000048080
Gene Nameolfactory receptor 731
SynonymsMOR246-5, GA_x6K02T2PMLR-5936117-5935137
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL02304
Quality Score
Status
Chromosome14
Chromosomal Location50233531-50241866 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 50238760 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 42 (N42D)
Ref Sequence ENSEMBL: ENSMUSP00000150683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059565] [ENSMUST00000214152] [ENSMUST00000214388]
Predicted Effect probably damaging
Transcript: ENSMUST00000059565
AA Change: N42D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050705
Gene: ENSMUSG00000048080
AA Change: N42D

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 8.5e-51 PFAM
Pfam:7tm_1 41 287 5.5e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213322
Predicted Effect probably damaging
Transcript: ENSMUST00000214152
AA Change: N42D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000214388
AA Change: N42D

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik G T 18: 68,950,051 H31N unknown Het
Adamts8 A G 9: 30,956,656 N592S possibly damaging Het
Atp1a2 C A 1: 172,289,353 E232D probably benign Het
Cacnb3 A T 15: 98,642,382 D323V probably damaging Het
Cdh9 A T 15: 16,848,601 T456S probably benign Het
Cep162 A T 9: 87,227,147 probably benign Het
Clvs2 T C 10: 33,528,447 M258V probably benign Het
Col6a5 T C 9: 105,928,414 T1098A unknown Het
Foxs1 T C 2: 152,932,350 D261G probably benign Het
Gas2l2 T C 11: 83,424,238 probably benign Het
Gins4 A T 8: 23,232,609 M98K probably benign Het
Gm12355 C T 11: 98,625,538 R3H probably benign Het
Gm9637 A T 14: 19,402,545 noncoding transcript Het
Herc1 A G 9: 66,476,414 D3720G probably benign Het
Kcnh5 C T 12: 74,976,697 M532I probably benign Het
Kcnk18 T C 19: 59,234,863 Y147H probably damaging Het
Kif21a A T 15: 90,965,535 F55Y probably damaging Het
Krt15 T A 11: 100,133,677 I278F possibly damaging Het
L3mbtl4 T A 17: 68,587,185 Y395* probably null Het
Mcm3ap T A 10: 76,484,738 N843K possibly damaging Het
Mpdz T C 4: 81,310,157 K1337E possibly damaging Het
Mpdz G A 4: 81,297,559 probably benign Het
Ms4a6d T C 19: 11,603,141 probably benign Het
Myo7a G T 7: 98,077,736 R922S possibly damaging Het
Nek1 G T 8: 61,012,167 G97C probably damaging Het
Obscn A G 11: 59,076,622 Y2963H probably damaging Het
Olfr1138 C T 2: 87,737,986 V113M probably benign Het
Olfr1294 T C 2: 111,537,401 N296S probably benign Het
Prmt3 G A 7: 49,826,737 V365I probably benign Het
Prrc2c T C 1: 162,684,136 T958A probably benign Het
Ptprb T C 10: 116,331,259 Y947H probably damaging Het
Pus10 C T 11: 23,712,275 S315L probably damaging Het
Rmi1 C A 13: 58,409,476 S513* probably null Het
Sec14l3 C T 11: 4,074,768 P239L probably damaging Het
Slc44a3 T C 3: 121,527,074 T93A possibly damaging Het
Stat1 G A 1: 52,132,544 A125T probably benign Het
Tigd2 C T 6: 59,211,698 Q517* probably null Het
Trav13d-3 C T 14: 53,033,380 Q100* probably null Het
Trim67 G A 8: 124,825,952 D598N probably damaging Het
Trio A G 15: 27,735,436 L2856P probably damaging Het
Other mutations in Olfr731
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01488:Olfr731 APN 14 50238138 missense possibly damaging 0.87
IGL02395:Olfr731 APN 14 50238429 missense probably damaging 1.00
IGL03079:Olfr731 APN 14 50238124 missense possibly damaging 0.81
R0646:Olfr731 UTSW 14 50238639 missense probably damaging 1.00
R1253:Olfr731 UTSW 14 50238124 missense probably damaging 1.00
R2027:Olfr731 UTSW 14 50237949 missense probably benign
R2364:Olfr731 UTSW 14 50238155 missense probably damaging 1.00
R4714:Olfr731 UTSW 14 50238367 missense possibly damaging 0.68
R4749:Olfr731 UTSW 14 50238733 missense probably damaging 0.96
R5880:Olfr731 UTSW 14 50238715 missense possibly damaging 0.95
R6954:Olfr731 UTSW 14 50238110 nonsense probably null
R7295:Olfr731 UTSW 14 50238616 missense probably damaging 0.98
R7419:Olfr731 UTSW 14 50237991 missense possibly damaging 0.85
R7457:Olfr731 UTSW 14 50238368 missense probably damaging 0.99
Posted On2015-04-16