Incidental Mutation 'IGL00978:Olfr135'
ID29353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr135
Ensembl Gene ENSMUSG00000057801
Gene Nameolfactory receptor 135
SynonymsGA_x6K02T2PSCP-2656648-2657586, MOR256-48
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL00978
Quality Score
Status
Chromosome17
Chromosomal Location38204335-38210915 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 38208982 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 246 (I246F)
Ref Sequence ENSEMBL: ENSMUSP00000150535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076245] [ENSMUST00000213217]
Predicted Effect probably damaging
Transcript: ENSMUST00000076245
AA Change: I246F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075595
Gene: ENSMUSG00000057801
AA Change: I246F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 7.6e-50 PFAM
Pfam:7tm_1 41 290 9.2e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213217
AA Change: I246F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
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
0610009L18Rik T C 11: 120,350,947 probably benign Het
Alpk2 A T 18: 65,291,534 probably benign Het
Angptl8 T C 9: 21,837,053 probably benign Het
AU040320 T A 4: 126,828,839 D383E probably benign Het
Cep97 C T 16: 55,924,960 probably benign Het
Clcn4 A T 7: 7,287,673 L649H probably damaging Het
Col5a2 T C 1: 45,376,739 N1416S probably benign Het
Erbb2 C T 11: 98,435,630 P1027S probably damaging Het
Eya1 A G 1: 14,270,701 probably benign Het
Gfm2 T C 13: 97,162,977 I402T probably benign Het
Gmeb2 A T 2: 181,259,043 V187E probably benign Het
Hectd1 T C 12: 51,791,390 H662R possibly damaging Het
Ifne T C 4: 88,880,031 Q50R probably benign Het
Kidins220 A G 12: 25,057,474 D1642G probably damaging Het
Klhl32 T A 4: 24,682,245 D146V probably damaging Het
Krt36 T C 11: 100,102,948 I355V probably damaging Het
Lrrcc1 T A 3: 14,536,128 S73R possibly damaging Het
Ltbp3 A T 19: 5,754,019 H853L probably benign Het
Map3k5 G A 10: 20,141,567 R1369Q probably damaging Het
Mcm8 A G 2: 132,821,406 N148S probably benign Het
Mylk3 A T 8: 85,355,526 L211* probably null Het
Nras T C 3: 103,058,916 probably benign Het
Olfr670 A T 7: 104,960,716 N5K probably damaging Het
Os9 A T 10: 127,120,509 Y66N probably damaging Het
Pitpnm1 A G 19: 4,101,228 D15G possibly damaging Het
Reg3a A T 6: 78,382,301 R95* probably null Het
Rnf17 C T 14: 56,512,271 P1425S probably damaging Het
Smad2 T C 18: 76,299,775 probably benign Het
Ttll5 C T 12: 85,933,482 Q76* probably null Het
Uri1 A T 7: 37,996,731 probably benign Het
Vmn2r102 G T 17: 19,678,923 probably null Het
Vmn2r70 T G 7: 85,563,799 M467L probably benign Het
Zfp318 T A 17: 46,413,726 D2218E possibly damaging Het
Zfp692 T C 11: 58,314,029 I405T possibly damaging Het
Zfp692 A G 11: 58,309,998 H235R possibly damaging Het
Other mutations in Olfr135
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Olfr135 APN 17 38208497 missense probably damaging 0.98
IGL01666:Olfr135 APN 17 38208889 missense probably benign 0.11
IGL02096:Olfr135 APN 17 38209183 makesense probably null
R0255:Olfr135 UTSW 17 38208395 missense probably benign
R0630:Olfr135 UTSW 17 38208413 missense probably damaging 0.97
R1185:Olfr135 UTSW 17 38209183 makesense probably null
R1185:Olfr135 UTSW 17 38209183 makesense probably null
R1185:Olfr135 UTSW 17 38209183 makesense probably null
R1279:Olfr135 UTSW 17 38208787 missense probably benign 0.01
R1878:Olfr135 UTSW 17 38208374 missense probably benign 0.03
R1969:Olfr135 UTSW 17 38208464 missense probably damaging 1.00
R2374:Olfr135 UTSW 17 38209067 missense probably damaging 0.97
R3708:Olfr135 UTSW 17 38208283 missense probably benign 0.01
R5025:Olfr135 UTSW 17 38208443 missense probably damaging 1.00
R5093:Olfr135 UTSW 17 38208317 missense possibly damaging 0.92
R5095:Olfr135 UTSW 17 38208317 missense possibly damaging 0.92
R5103:Olfr135 UTSW 17 38208317 missense possibly damaging 0.92
R5104:Olfr135 UTSW 17 38208317 missense possibly damaging 0.92
R5105:Olfr135 UTSW 17 38208317 missense possibly damaging 0.92
R5149:Olfr135 UTSW 17 38208317 missense possibly damaging 0.92
R5150:Olfr135 UTSW 17 38208317 missense possibly damaging 0.92
R5344:Olfr135 UTSW 17 38209104 missense probably damaging 1.00
R6608:Olfr135 UTSW 17 38208479 missense probably damaging 1.00
R7300:Olfr135 UTSW 17 38208697 missense possibly damaging 0.76
R7324:Olfr135 UTSW 17 38208716 missense probably benign
R7580:Olfr135 UTSW 17 38209043 missense probably benign 0.11
R8062:Olfr135 UTSW 17 38209174 missense probably benign 0.01
Posted On2013-04-17