Incidental Mutation 'IGL01092:Olfr1338'
ID50883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1338
Ensembl Gene ENSMUSG00000095218
Gene Nameolfactory receptor 1338
SynonymsMOR259-9, GA_x6K02T2QD9B-18795136-18796077, MOR259-4P, MOR259-4P, Olfr1524-ps1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.639) question?
Stock #IGL01092
Quality Score
Status
Chromosome4
Chromosomal Location118751975-118758737 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 118753762 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 259 (I259F)
Ref Sequence ENSEMBL: ENSMUSP00000092427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084315] [ENSMUST00000214922] [ENSMUST00000216559]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084315
AA Change: I259F

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092427
Gene: ENSMUSG00000095218
AA Change: I259F

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 3.3e-55 PFAM
Pfam:7TM_GPCR_Srsx 36 306 1e-8 PFAM
Pfam:7tm_1 42 291 1.8e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214922
AA Change: I261F

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216559
AA Change: I261F

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,529,946 R335G probably damaging Het
Atad2b C T 12: 5,017,987 S995L probably damaging Het
Atrn A T 2: 130,947,636 R340* probably null Het
Ccdc83 A T 7: 90,247,105 D85E probably benign Het
Chd2 A T 7: 73,441,686 H1602Q possibly damaging Het
Cog2 A G 8: 124,545,280 D511G probably damaging Het
Col4a4 G T 1: 82,466,545 P1334T unknown Het
Creb3l4 T C 3: 90,237,738 E369G probably damaging Het
Crnkl1 T C 2: 145,919,948 K563R probably benign Het
Dbi T C 1: 120,113,477 K131E probably benign Het
Edn1 A G 13: 42,303,671 D60G probably damaging Het
Erbin T C 13: 103,834,012 N1032S probably damaging Het
Ero1l T C 14: 45,303,586 D107G probably benign Het
Glmn A T 5: 107,578,512 probably null Het
Grxcr1 T C 5: 68,110,562 probably benign Het
Itih3 T A 14: 30,909,781 K593I probably damaging Het
Kmt2b T C 7: 30,580,507 Y1356C probably damaging Het
Lrp1b C T 2: 40,750,947 C3495Y probably damaging Het
Map3k13 A T 16: 21,928,016 T950S probably damaging Het
Me1 A T 9: 86,598,748 V348D probably damaging Het
Morc2a T C 11: 3,684,042 V718A probably benign Het
Myh7 T C 14: 54,971,632 E1883G possibly damaging Het
Olfr913 T G 9: 38,594,905 I228R probably damaging Het
Pdcd6ip A G 9: 113,680,181 probably benign Het
Plcb3 T A 19: 6,955,322 E1025V probably benign Het
Ppp1r26 C T 2: 28,453,860 probably benign Het
Prkd1 T C 12: 50,383,515 probably benign Het
Rwdd4a C T 8: 47,544,112 T122M possibly damaging Het
Sdhb T G 4: 140,977,480 C251G probably damaging Het
Siglec1 A T 2: 131,079,217 I678N probably damaging Het
Snrnp70 T C 7: 45,377,377 D215G probably damaging Het
Ston1 A G 17: 88,644,443 E674G probably benign Het
Tbl3 A T 17: 24,705,252 I177N probably damaging Het
Tbl3 T C 17: 24,701,905 probably benign Het
Tnrc6c T C 11: 117,721,985 V483A probably damaging Het
Other mutations in Olfr1338
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02726:Olfr1338 APN 4 118753764 missense probably benign 0.00
IGL02928:Olfr1338 APN 4 118754500 missense probably damaging 1.00
IGL03102:Olfr1338 APN 4 118753934 missense probably benign 0.00
R0062:Olfr1338 UTSW 4 118753903 missense probably benign 0.00
R0062:Olfr1338 UTSW 4 118753903 missense probably benign 0.00
R0299:Olfr1338 UTSW 4 118754535 start codon destroyed probably null 0.82
R0501:Olfr1338 UTSW 4 118753830 missense probably benign 0.00
R1301:Olfr1338 UTSW 4 118753619 missense probably benign
R1719:Olfr1338 UTSW 4 118753600 missense possibly damaging 0.78
R2327:Olfr1338 UTSW 4 118754134 missense probably benign 0.13
R3110:Olfr1338 UTSW 4 118754224 missense probably damaging 0.99
R3112:Olfr1338 UTSW 4 118754224 missense probably damaging 0.99
R4582:Olfr1338 UTSW 4 118753893 missense probably damaging 1.00
R4615:Olfr1338 UTSW 4 118754137 missense probably benign 0.34
R5640:Olfr1338 UTSW 4 118753789 missense probably benign 0.07
R6513:Olfr1338 UTSW 4 118754027 nonsense probably null
R6889:Olfr1338 UTSW 4 118754307 missense probably damaging 0.99
R7157:Olfr1338 UTSW 4 118754418 missense possibly damaging 0.93
R7168:Olfr1338 UTSW 4 118753851 missense probably damaging 0.98
R7378:Olfr1338 UTSW 4 118754175 missense possibly damaging 0.74
R7451:Olfr1338 UTSW 4 118753687 missense probably benign 0.03
R7770:Olfr1338 UTSW 4 118754057 missense probably benign 0.04
R7847:Olfr1338 UTSW 4 118754368 missense possibly damaging 0.79
Posted On2013-06-21