Incidental Mutation 'IGL01023:Olfr1111'
ID53467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1111
Ensembl Gene ENSMUSG00000075158
Gene Nameolfactory receptor 1111
SynonymsMOR181-2, GA_x6K02T2Q125-48635468-48634530
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.215) question?
Stock #IGL01023
Quality Score
Status
Chromosome2
Chromosomal Location87149181-87152624 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87149825 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 279 (T279S)
Ref Sequence ENSEMBL: ENSMUSP00000150760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099860] [ENSMUST00000214492] [ENSMUST00000216378]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099860
AA Change: T279S

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097446
Gene: ENSMUSG00000075158
AA Change: T279S

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.2e-54 PFAM
Pfam:7tm_1 41 290 7e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214492
AA Change: T279S

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216378
AA Change: T279S

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,629,729 L1472P probably damaging Het
BC005561 T A 5: 104,520,500 W963R probably damaging Het
Col18a1 C T 10: 77,070,975 V1151M probably damaging Het
Crmp1 A T 5: 37,276,313 D286V probably damaging Het
Ddx60 A T 8: 61,942,514 I162F probably damaging Het
Fam24b A T 7: 131,326,174 C95* probably null Het
Fsd1 A G 17: 55,988,245 Y78C probably damaging Het
Galc C T 12: 98,231,422 V343I probably benign Het
Glis2 C T 16: 4,611,650 R214C probably damaging Het
Gm14406 A T 2: 177,569,239 C416S probably damaging Het
Gm5724 A G 6: 141,754,429 S126P probably benign Het
Gnat3 T C 5: 18,003,828 S177P probably damaging Het
Higd1a C T 9: 121,849,683 G80D possibly damaging Het
Hp1bp3 T C 4: 138,240,629 V421A possibly damaging Het
Ipo11 A T 13: 106,897,259 F238L probably benign Het
Med26 A T 8: 72,495,874 F460L possibly damaging Het
Osbp2 T C 11: 3,863,387 I161V probably benign Het
Prr5 T C 15: 84,699,655 V152A possibly damaging Het
Prx T A 7: 27,519,419 I1115K probably benign Het
Ptpn22 A G 3: 103,903,374 I708M probably benign Het
Robo3 T C 9: 37,429,551 T120A probably damaging Het
Setd2 C A 9: 110,547,513 S132* probably null Het
Slc9a1 A G 4: 133,422,143 E760G probably benign Het
Stx16 A T 2: 174,092,409 H135L probably damaging Het
Tas2r131 A T 6: 132,957,801 L15Q probably damaging Het
Tmcc1 A G 6: 116,043,027 L128P probably damaging Het
Tmem269 C A 4: 119,209,314 M182I probably benign Het
Tnfaip8l2 A G 3: 95,140,415 S46P probably damaging Het
Trim30c A G 7: 104,382,972 probably benign Het
Unc13a C T 8: 71,661,825 E184K probably benign Het
Wfs1 A T 5: 36,967,917 C467* probably null Het
Zfp78 G A 7: 6,375,588 G77D possibly damaging Het
Other mutations in Olfr1111
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02217:Olfr1111 APN 2 87149887 missense probably benign 0.00
R0789:Olfr1111 UTSW 2 87149827 missense probably damaging 1.00
R1437:Olfr1111 UTSW 2 87149771 missense possibly damaging 0.94
R1696:Olfr1111 UTSW 2 87150380 missense probably benign 0.00
R1700:Olfr1111 UTSW 2 87149779 missense probably damaging 1.00
R1717:Olfr1111 UTSW 2 87149806 nonsense probably null
R4965:Olfr1111 UTSW 2 87150659 start codon destroyed possibly damaging 0.89
R5221:Olfr1111 UTSW 2 87150481 missense probably damaging 1.00
R5297:Olfr1111 UTSW 2 87150449 missense probably benign 0.01
R5837:Olfr1111 UTSW 2 87150355 missense probably benign 0.02
R6544:Olfr1111 UTSW 2 87149863 missense probably damaging 1.00
R6911:Olfr1111 UTSW 2 87149767 missense probably damaging 1.00
R8537:Olfr1111 UTSW 2 87150038 missense probably benign 0.02
Posted On2013-06-28