Incidental Mutation 'IGL01023:Or5as1'
ID 53467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5as1
Ensembl Gene ENSMUSG00000075158
Gene Name olfactory receptor family 5 subfamily AS member 1
Synonyms Olfr1111, MOR181-2, GA_x6K02T2Q125-48635468-48634530
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.283) question?
Stock # IGL01023
Quality Score
Status
Chromosome 2
Chromosomal Location 86980064-86981003 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86980169 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q7TR55
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: 128,471,649 (GRCm39) L1472P probably damaging Het
Col18a1 C T 10: 76,906,809 (GRCm39) V1151M probably damaging Het
Crmp1 A T 5: 37,433,657 (GRCm39) D286V probably damaging Het
Ddx60 A T 8: 62,395,548 (GRCm39) I162F probably damaging Het
Fam24b A T 7: 130,927,903 (GRCm39) C95* probably null Het
Fsd1 A G 17: 56,295,245 (GRCm39) Y78C probably damaging Het
Galc C T 12: 98,197,681 (GRCm39) V343I probably benign Het
Glis2 C T 16: 4,429,514 (GRCm39) R214C probably damaging Het
Gm14406 A T 2: 177,261,032 (GRCm39) C416S probably damaging Het
Gnat3 T C 5: 18,208,826 (GRCm39) S177P probably damaging Het
Higd1a C T 9: 121,678,749 (GRCm39) G80D possibly damaging Het
Hp1bp3 T C 4: 137,967,940 (GRCm39) V421A possibly damaging Het
Ipo11 A T 13: 107,033,767 (GRCm39) F238L probably benign Het
Med26 A T 8: 73,249,718 (GRCm39) F460L possibly damaging Het
Osbp2 T C 11: 3,813,387 (GRCm39) I161V probably benign Het
Prr5 T C 15: 84,583,856 (GRCm39) V152A possibly damaging Het
Prx T A 7: 27,218,844 (GRCm39) I1115K probably benign Het
Ptpn22 A G 3: 103,810,690 (GRCm39) I708M probably benign Het
Robo3 T C 9: 37,340,847 (GRCm39) T120A probably damaging Het
Setd2 C A 9: 110,376,581 (GRCm39) S132* probably null Het
Slc9a1 A G 4: 133,149,454 (GRCm39) E760G probably benign Het
Slco1a7 A G 6: 141,700,155 (GRCm39) S126P probably benign Het
Stx16 A T 2: 173,934,202 (GRCm39) H135L probably damaging Het
Tas2r131 A T 6: 132,934,764 (GRCm39) L15Q probably damaging Het
Thoc2l T A 5: 104,668,366 (GRCm39) W963R probably damaging Het
Tmcc1 A G 6: 116,019,988 (GRCm39) L128P probably damaging Het
Tmem269 C A 4: 119,066,511 (GRCm39) M182I probably benign Het
Tnfaip8l2 A G 3: 95,047,726 (GRCm39) S46P probably damaging Het
Trim30c A G 7: 104,032,179 (GRCm39) probably benign Het
Unc13a C T 8: 72,114,469 (GRCm39) E184K probably benign Het
Wfs1 A T 5: 37,125,261 (GRCm39) C467* probably null Het
Zfp78 G A 7: 6,378,587 (GRCm39) G77D possibly damaging Het
Other mutations in Or5as1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02217:Or5as1 APN 2 86,980,231 (GRCm39) missense probably benign 0.00
R0789:Or5as1 UTSW 2 86,980,171 (GRCm39) missense probably damaging 1.00
R1437:Or5as1 UTSW 2 86,980,115 (GRCm39) missense possibly damaging 0.94
R1696:Or5as1 UTSW 2 86,980,724 (GRCm39) missense probably benign 0.00
R1700:Or5as1 UTSW 2 86,980,123 (GRCm39) missense probably damaging 1.00
R1717:Or5as1 UTSW 2 86,980,150 (GRCm39) nonsense probably null
R4965:Or5as1 UTSW 2 86,981,003 (GRCm39) start codon destroyed possibly damaging 0.89
R5221:Or5as1 UTSW 2 86,980,825 (GRCm39) missense probably damaging 1.00
R5297:Or5as1 UTSW 2 86,980,793 (GRCm39) missense probably benign 0.01
R5837:Or5as1 UTSW 2 86,980,699 (GRCm39) missense probably benign 0.02
R6544:Or5as1 UTSW 2 86,980,207 (GRCm39) missense probably damaging 1.00
R6911:Or5as1 UTSW 2 86,980,111 (GRCm39) missense probably damaging 1.00
R8537:Or5as1 UTSW 2 86,980,382 (GRCm39) missense probably benign 0.02
R8969:Or5as1 UTSW 2 86,980,928 (GRCm39) missense probably benign
R9747:Or5as1 UTSW 2 86,980,898 (GRCm39) missense probably benign 0.21
Posted On 2013-06-28