Incidental Mutation 'IGL02399:Olfr1215'
ID291815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1215
Ensembl Gene ENSMUSG00000100016
Gene Nameolfactory receptor 1215
SynonymsGA_x6K02T2Q125-50482823-50481885, MOR233-13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02399
Quality Score
Status
Chromosome2
Chromosomal Location89000021-89006973 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 89002163 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 42 (T42S)
Ref Sequence ENSEMBL: ENSMUSP00000150030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000188399] [ENSMUST00000214809] [ENSMUST00000216271]
Predicted Effect probably benign
Transcript: ENSMUST00000188399
AA Change: T42S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000141134
Gene: ENSMUSG00000100016
AA Change: T42S

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
Pfam:7tm_1 39 286 1.9e-25 PFAM
Pfam:7tm_4 138 283 1.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214809
AA Change: T42S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000216271
AA Change: T42S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 C T 2: 150,858,493 probably benign Het
Adarb1 G A 10: 77,295,754 P624S probably benign Het
Afg3l2 A T 18: 67,429,040 F322I possibly damaging Het
Arhgap23 A G 11: 97,491,005 probably benign Het
Armc4 G T 18: 7,285,719 Q215K probably benign Het
Atp13a1 A G 8: 69,807,101 N1114S probably damaging Het
C3ar1 T C 6: 122,849,879 N460D probably benign Het
Cacna1e A G 1: 154,403,747 Y1988H probably damaging Het
Calr T C 8: 84,842,786 probably benign Het
D5Ertd579e A G 5: 36,616,185 S289P probably damaging Het
Erbb4 G A 1: 68,042,437 probably benign Het
Fam98a A G 17: 75,538,941 probably benign Het
Gm3739 A T 14: 7,299,405 D83E possibly damaging Het
Gm5420 A T 10: 21,691,172 noncoding transcript Het
Heatr5b A G 17: 78,827,967 V245A probably damaging Het
Kptn C A 7: 16,127,113 probably benign Het
Llgl2 T C 11: 115,844,835 C86R probably damaging Het
Lrr1 T A 12: 69,168,891 C12* probably null Het
Mcf2 T C X: 60,135,452 D255G probably damaging Het
Med13 A T 11: 86,283,945 probably benign Het
Mthfd1 C T 12: 76,317,632 T735M probably damaging Het
Nlrp2 C T 7: 5,328,810 A196T probably damaging Het
Nnmt T C 9: 48,603,538 I60V probably damaging Het
Olfr522 A T 7: 140,162,600 S117T probably benign Het
P2rx3 T C 2: 85,023,227 I140V probably benign Het
Patj A G 4: 98,591,936 N1293D probably damaging Het
Pitpnm2 G A 5: 124,140,758 probably benign Het
Ppp1r26 T G 2: 28,453,280 V974G probably benign Het
Prrc2b T A 2: 32,226,961 L1376* probably null Het
Rab33a T A X: 48,519,707 I36N probably damaging Het
Rab3gap1 A T 1: 127,928,103 N493I possibly damaging Het
Scara3 C A 14: 65,933,110 G107* probably null Het
Siglec1 T C 2: 131,071,178 E1606G probably benign Het
Skint9 A T 4: 112,389,250 Y222N possibly damaging Het
Slc47a1 A T 11: 61,363,058 I185N probably damaging Het
Slc47a2 C A 11: 61,302,194 probably benign Het
Slc4a2 A G 5: 24,434,713 I506V probably damaging Het
Slc9a4 A C 1: 40,600,782 I245L probably benign Het
Smarcb1 T C 10: 75,897,494 T357A probably damaging Het
Spata31d1d A G 13: 59,730,140 probably benign Het
Stox2 T A 8: 47,186,538 I874F probably damaging Het
Taar7b A T 10: 24,000,152 I72F probably damaging Het
Tacc2 G A 7: 130,623,399 V605I probably benign Het
Tef T C 15: 81,815,100 L34P probably damaging Het
Trak2 A G 1: 58,910,045 V532A probably benign Het
Usp13 T A 3: 32,919,060 D795E probably damaging Het
Vmn1r32 T A 6: 66,552,929 I288F probably benign Het
Vmn1r75 T C 7: 11,881,166 I275T possibly damaging Het
Zfp871 A T 17: 32,774,355 F615L probably benign Het
Zfp941 G A 7: 140,812,699 T249M probably benign Het
Zhx1 T C 15: 58,053,741 I370V probably damaging Het
Other mutations in Olfr1215
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Olfr1215 APN 2 89001339 utr 3 prime probably benign
IGL02395:Olfr1215 APN 2 89002163 missense probably benign 0.00
IGL02409:Olfr1215 APN 2 89001910 missense possibly damaging 0.75
IGL02421:Olfr1215 APN 2 89001344 unclassified probably null
IGL03036:Olfr1215 APN 2 89002115 missense possibly damaging 0.94
R2036:Olfr1215 UTSW 2 89001632 missense probably damaging 0.97
R2199:Olfr1215 UTSW 2 89001550 missense probably damaging 0.98
R3930:Olfr1215 UTSW 2 89002033 missense probably benign 0.32
R4990:Olfr1215 UTSW 2 89001472 missense probably damaging 0.97
R5199:Olfr1215 UTSW 2 89001763 missense possibly damaging 0.70
R5368:Olfr1215 UTSW 2 89002091 missense probably damaging 1.00
R5396:Olfr1215 UTSW 2 89002196 missense probably benign 0.15
R6881:Olfr1215 UTSW 2 89001937 missense probably damaging 1.00
R7195:Olfr1215 UTSW 2 89001731 missense
R7425:Olfr1215 UTSW 2 89002200 missense
R7804:Olfr1215 UTSW 2 89001511 missense unknown
R8094:Olfr1215 UTSW 2 89002368 start gained probably benign
Z1088:Olfr1215 UTSW 2 89001838 missense possibly damaging 0.94
Posted On2015-04-16