Incidental Mutation 'IGL03220:Or5ar1'
ID 413610
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5ar1
Ensembl Gene ENSMUSG00000075208
Gene Name olfactory receptor family 5 subfamily AR member 1
Synonyms MOR180-1, Olfr1019, GA_x6K02T2Q125-47320309-47319377
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # IGL03220
Quality Score
Status
Chromosome 2
Chromosomal Location 85671201-85672133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85671326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 270 (Q270K)
Ref Sequence ENSEMBL: ENSMUSP00000150622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102634] [ENSMUST00000213515]
AlphaFold Q8VGS3
Predicted Effect possibly damaging
Transcript: ENSMUST00000102634
AA Change: Q270K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099694
Gene: ENSMUSG00000075208
AA Change: Q270K

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.7e-55 PFAM
Pfam:7TM_GPCR_Srsx 35 237 1.6e-6 PFAM
Pfam:7tm_1 41 290 1.4e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213515
AA Change: Q270K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T A 1: 179,615,767 (GRCm39) E368D probably benign Het
Arid2 A T 15: 96,259,653 (GRCm39) H271L probably damaging Het
Bsnd G T 4: 106,343,962 (GRCm39) Q115K possibly damaging Het
Ceacam5 T A 7: 17,494,653 (GRCm39) I887N probably damaging Het
Clrn2 T C 5: 45,621,070 (GRCm39) F155L probably damaging Het
Col12a1 A G 9: 79,606,765 (GRCm39) S553P probably damaging Het
Crnn C T 3: 93,056,674 (GRCm39) H487Y possibly damaging Het
Ddi2 T C 4: 141,435,767 (GRCm39) N90S probably benign Het
Deup1 T A 9: 15,503,707 (GRCm39) I285L probably benign Het
Dlgap4 T C 2: 156,546,546 (GRCm39) S405P probably damaging Het
Dnah11 A G 12: 118,069,720 (GRCm39) F1560L probably benign Het
Dock1 T C 7: 134,710,251 (GRCm39) probably null Het
Dst C A 1: 34,225,076 (GRCm39) Q1161K probably damaging Het
Dus1l G T 11: 120,683,185 (GRCm39) H280N probably damaging Het
Gm21985 C A 2: 112,187,829 (GRCm39) H964N possibly damaging Het
Gzmd A T 14: 56,367,886 (GRCm39) V129E probably damaging Het
Hmcn2 T A 2: 31,236,633 (GRCm39) F392Y possibly damaging Het
Kdelr2 T A 5: 143,403,870 (GRCm39) Y86* probably null Het
Kif26b T G 1: 178,692,434 (GRCm39) C458W probably damaging Het
Lhpp G A 7: 132,252,020 (GRCm39) V220I probably benign Het
Nfya T C 17: 48,707,521 (GRCm39) N7S possibly damaging Het
Or5b12b C T 19: 12,861,815 (GRCm39) T190I possibly damaging Het
Or5b24 A C 19: 12,912,858 (GRCm39) Y252S probably damaging Het
Prkg1 A T 19: 30,546,637 (GRCm39) probably benign Het
Prpf6 A G 2: 181,274,672 (GRCm39) E383G probably damaging Het
Ptpn21 A T 12: 98,644,882 (GRCm39) V1153E probably damaging Het
Ryr1 A T 7: 28,759,280 (GRCm39) I3330N probably damaging Het
Sgk1 A G 10: 21,873,290 (GRCm39) D252G probably null Het
Shcbp1l T C 1: 153,308,911 (GRCm39) probably benign Het
Shoc1 G A 4: 59,082,378 (GRCm39) Q417* probably null Het
Skida1 T C 2: 18,052,972 (GRCm39) D60G probably damaging Het
Slc9a5 T A 8: 106,094,652 (GRCm39) C748S probably benign Het
Smc4 A T 3: 68,916,875 (GRCm39) Y163F possibly damaging Het
Spdya T C 17: 71,885,286 (GRCm39) S247P possibly damaging Het
Sptb T C 12: 76,659,684 (GRCm39) D1072G probably benign Het
St7l A T 3: 104,782,139 (GRCm39) probably benign Het
Trmt1l T C 1: 151,316,692 (GRCm39) probably benign Het
Tspan4 A G 7: 141,071,712 (GRCm39) Y153C probably damaging Het
Ulk4 A T 9: 120,974,402 (GRCm39) N944K probably damaging Het
Unc80 T C 1: 66,544,097 (GRCm39) C407R probably damaging Het
Zfp563 T G 17: 33,323,661 (GRCm39) S85R probably benign Het
Zp2 A C 7: 119,736,450 (GRCm39) L331R possibly damaging Het
Other mutations in Or5ar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Or5ar1 APN 2 85,671,706 (GRCm39) missense probably benign 0.02
IGL02734:Or5ar1 APN 2 85,671,883 (GRCm39) missense possibly damaging 0.88
IGL03030:Or5ar1 APN 2 85,671,416 (GRCm39) missense probably damaging 1.00
IGL03207:Or5ar1 APN 2 85,671,317 (GRCm39) missense probably benign 0.14
IGL03215:Or5ar1 APN 2 85,671,725 (GRCm39) missense probably damaging 1.00
R0441:Or5ar1 UTSW 2 85,671,859 (GRCm39) missense probably damaging 1.00
R4013:Or5ar1 UTSW 2 85,671,725 (GRCm39) missense probably damaging 1.00
R4604:Or5ar1 UTSW 2 85,671,526 (GRCm39) missense probably damaging 0.99
R5307:Or5ar1 UTSW 2 85,671,358 (GRCm39) missense probably damaging 1.00
R5754:Or5ar1 UTSW 2 85,671,656 (GRCm39) missense probably damaging 1.00
R6010:Or5ar1 UTSW 2 85,671,905 (GRCm39) missense probably benign 0.16
R6062:Or5ar1 UTSW 2 85,671,458 (GRCm39) missense probably benign
R6103:Or5ar1 UTSW 2 85,671,776 (GRCm39) missense probably damaging 1.00
R6443:Or5ar1 UTSW 2 85,671,979 (GRCm39) missense probably damaging 0.99
R7442:Or5ar1 UTSW 2 85,672,096 (GRCm39) missense probably benign 0.04
R7490:Or5ar1 UTSW 2 85,671,307 (GRCm39) missense probably damaging 1.00
R7524:Or5ar1 UTSW 2 85,671,701 (GRCm39) missense probably benign
R7605:Or5ar1 UTSW 2 85,671,383 (GRCm39) missense probably benign 0.34
R7615:Or5ar1 UTSW 2 85,672,001 (GRCm39) missense probably benign 0.02
R9706:Or5ar1 UTSW 2 85,671,658 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02