Incidental Mutation 'IGL03207:Or5ar1'
ID 413173
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: 0.164) question?
Stock # IGL03207
Quality Score
Status
Chromosome 2
Chromosomal Location 85671201-85672133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85671317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 273 (W273R)
Ref Sequence ENSEMBL: ENSMUSP00000150622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102634] [ENSMUST00000213515]
AlphaFold Q8VGS3
Predicted Effect probably benign
Transcript: ENSMUST00000102634
AA Change: W273R

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099694
Gene: ENSMUSG00000075208
AA Change: W273R

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 probably benign
Transcript: ENSMUST00000213515
AA Change: W273R

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,255,017 (GRCm39) probably null Het
Agt A G 8: 125,286,107 (GRCm39) F325S probably damaging Het
Arnt2 T C 7: 83,993,042 (GRCm39) E166G possibly damaging Het
Bltp1 T C 3: 37,004,145 (GRCm39) I1619T possibly damaging Het
Cacna1h T C 17: 25,610,307 (GRCm39) D733G probably damaging Het
Capn2 T G 1: 182,316,578 (GRCm39) T294P possibly damaging Het
Cd74 A G 18: 60,944,996 (GRCm39) probably benign Het
Eno4 T C 19: 58,941,637 (GRCm39) L185P probably benign Het
Exoc5 G A 14: 49,270,832 (GRCm39) P398S probably benign Het
Fsd2 T C 7: 81,208,918 (GRCm39) M187V probably benign Het
Lrfn5 C T 12: 61,890,112 (GRCm39) T467M probably damaging Het
Mrgpra9 A G 7: 46,885,385 (GRCm39) I94T possibly damaging Het
Nuak1 A C 10: 84,275,993 (GRCm39) F77V possibly damaging Het
Nudt9 T C 5: 104,206,092 (GRCm39) probably benign Het
Ppp3cc T A 14: 70,485,031 (GRCm39) I208F probably damaging Het
Prrc1 G A 18: 57,522,389 (GRCm39) R407Q probably benign Het
Ror1 G A 4: 100,265,142 (GRCm39) probably null Het
Tmem161b T A 13: 84,442,714 (GRCm39) probably benign Het
Wdr35 C A 12: 9,039,936 (GRCm39) A347E probably 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
IGL03215:Or5ar1 APN 2 85,671,725 (GRCm39) missense probably damaging 1.00
IGL03220:Or5ar1 APN 2 85,671,326 (GRCm39) missense possibly damaging 0.87
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