Incidental Mutation 'IGL03247:Olfr693'
ID414434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr693
Ensembl Gene ENSMUSG00000051680
Gene Nameolfactory receptor 693
SynonymsGA_x6K02T2PBJ9-9055944-9054994, MOR283-8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.148) question?
Stock #IGL03247
Quality Score
Status
Chromosome7
Chromosomal Location106675005-106680584 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 106677547 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 313 (H313L)
Ref Sequence ENSEMBL: ENSMUSP00000150203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057817] [ENSMUST00000215541]
Predicted Effect probably benign
Transcript: ENSMUST00000057817
AA Change: H313L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000059679
Gene: ENSMUSG00000051680
AA Change: H313L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.2e-48 PFAM
Pfam:7tm_1 41 290 5.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215541
AA Change: H313L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T A 14: 55,770,096 I926F probably damaging Het
Agap3 A G 5: 24,487,822 N418D probably damaging Het
Alms1 T C 6: 85,678,597 V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 M1L possibly damaging Het
Aox4 A G 1: 58,264,367 D1188G probably damaging Het
Car2 T A 3: 14,887,939 L47Q probably damaging Het
Catsper2 A G 2: 121,410,200 V107A probably benign Het
Catsperg2 T C 7: 29,717,048 N313S possibly damaging Het
Dolk T C 2: 30,285,511 Y174C probably damaging Het
Erfe A G 1: 91,370,425 E219G probably benign Het
Ern2 T C 7: 122,171,671 E733G probably benign Het
Fam159a A T 4: 108,367,901 C155S probably benign Het
Fam228a A G 12: 4,737,734 F13S probably damaging Het
Fancd2 T C 6: 113,568,208 V829A probably benign Het
Gid4 C A 11: 60,432,343 T87N probably benign Het
H2-Ob A G 17: 34,243,492 K152R probably benign Het
Ifna2 T A 4: 88,683,377 T135S probably benign Het
Il1rapl2 G A X: 138,789,680 G298D probably damaging Het
Mbd1 T A 18: 74,274,754 L174* probably null Het
Mga T A 2: 119,935,513 D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 M54K probably benign Het
Mphosph8 T A 14: 56,678,820 probably null Het
Mrps23 A G 11: 88,210,096 probably benign Het
Necab1 C T 4: 14,960,046 M300I probably benign Het
Nid2 G A 14: 19,779,620 D660N probably damaging Het
Olfr824 T A 10: 130,126,715 E114V probably damaging Het
P2ry13 A T 3: 59,209,592 V255D possibly damaging Het
Peak1 C T 9: 56,257,930 E905K probably damaging Het
Picalm C A 7: 90,194,291 Q550K probably benign Het
Rnf103 T A 6: 71,510,305 V640E possibly damaging Het
Sec31b T G 19: 44,518,940 K817N possibly damaging Het
Skint2 C A 4: 112,626,026 H209Q probably benign Het
Skint5 T C 4: 113,940,808 S193G probably damaging Het
Tacr3 A G 3: 134,930,091 probably benign Het
Tek A G 4: 94,865,443 M1041V possibly damaging Het
Tm4sf1 A G 3: 57,293,015 S89P possibly damaging Het
Tusc3 T A 8: 39,130,777 N299K possibly damaging Het
Washc4 T C 10: 83,564,463 S418P probably benign Het
Other mutations in Olfr693
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Olfr693 APN 7 106677833 missense probably damaging 1.00
IGL01135:Olfr693 APN 7 106678193 missense probably benign 0.41
R0206:Olfr693 UTSW 7 106677574 missense probably benign 0.03
R1125:Olfr693 UTSW 7 106678007 missense possibly damaging 0.46
R1873:Olfr693 UTSW 7 106678484 start codon destroyed probably damaging 1.00
R1969:Olfr693 UTSW 7 106677670 missense probably damaging 0.99
R1970:Olfr693 UTSW 7 106677670 missense probably damaging 0.99
R1971:Olfr693 UTSW 7 106677670 missense probably damaging 0.99
R1972:Olfr693 UTSW 7 106678219 missense probably benign 0.01
R1973:Olfr693 UTSW 7 106678219 missense probably benign 0.01
R2570:Olfr693 UTSW 7 106677667 missense probably benign 0.41
R3975:Olfr693 UTSW 7 106677785 missense probably damaging 1.00
R4840:Olfr693 UTSW 7 106678123 missense probably damaging 1.00
R5569:Olfr693 UTSW 7 106678483 start codon destroyed probably null 1.00
R6759:Olfr693 UTSW 7 106677893 missense probably benign
R6842:Olfr693 UTSW 7 106677886 missense probably damaging 1.00
R7108:Olfr693 UTSW 7 106678048 missense probably benign 0.03
R7565:Olfr693 UTSW 7 106678126 missense probably damaging 1.00
R7800:Olfr693 UTSW 7 106677574 missense probably benign 0.03
X0025:Olfr693 UTSW 7 106678249 missense probably damaging 1.00
Z1088:Olfr693 UTSW 7 106678457 missense probably benign 0.02
Posted On2016-08-02