Incidental Mutation 'IGL03030:Or5ar1'
ID 408395
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 # IGL03030
Quality Score
Status
Chromosome 2
Chromosomal Location 85671201-85672133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85671416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 240 (T240A)
Ref Sequence ENSEMBL: ENSMUSP00000150622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102634] [ENSMUST00000213515]
AlphaFold Q8VGS3
Predicted Effect probably damaging
Transcript: ENSMUST00000102634
AA Change: T240A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099694
Gene: ENSMUSG00000075208
AA Change: T240A

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 damaging
Transcript: ENSMUST00000213515
AA Change: T240A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A G 7: 43,145,057 (GRCm39) V367A possibly damaging Het
Abcb5 A T 12: 118,904,104 (GRCm39) S200R possibly damaging Het
Adam29 T C 8: 56,326,100 (GRCm39) D118G probably damaging Het
Adh4 A G 3: 138,134,906 (GRCm39) D360G probably benign Het
Ankle2 A G 5: 110,399,476 (GRCm39) Q611R possibly damaging Het
Ankra2 C T 13: 98,409,881 (GRCm39) probably benign Het
Ap1g2 T A 14: 55,343,504 (GRCm39) I28F probably damaging Het
Baz2a C T 10: 127,961,015 (GRCm39) T1608I possibly damaging Het
Cacnb4 T C 2: 52,364,894 (GRCm39) D123G probably damaging Het
Cage1 G A 13: 38,212,123 (GRCm39) T51M probably benign Het
Ccdc63 A G 5: 122,260,876 (GRCm39) V216A probably benign Het
Ccnd2 A G 6: 127,125,841 (GRCm39) V65A probably damaging Het
Cfap20dc A G 14: 8,511,113 (GRCm38) S434P probably damaging Het
Chd3 T A 11: 69,245,230 (GRCm39) T1163S possibly damaging Het
Cmbl A G 15: 31,589,823 (GRCm39) probably benign Het
Cobl G T 11: 12,204,241 (GRCm39) N813K possibly damaging Het
Cog5 G A 12: 31,840,921 (GRCm39) V249M probably damaging Het
Cps1 A G 1: 67,182,080 (GRCm39) N98S probably damaging Het
Cracd A G 5: 77,005,463 (GRCm39) D608G unknown Het
D630045J12Rik A T 6: 38,126,648 (GRCm39) I1454N probably damaging Het
Elmo2 A G 2: 165,136,237 (GRCm39) V603A possibly damaging Het
F12 A G 13: 55,569,332 (GRCm39) probably benign Het
Ficd G A 5: 113,874,990 (GRCm39) V20I probably benign Het
Gatad2b G T 3: 90,249,244 (GRCm39) G94V probably benign Het
Gm4845 G A 1: 141,184,403 (GRCm39) noncoding transcript Het
Hrnr G A 3: 93,227,908 (GRCm39) V9I possibly damaging Het
Kifc3 A G 8: 95,829,040 (GRCm39) S584P probably damaging Het
Klk1b24 C A 7: 43,840,790 (GRCm39) Q73K probably benign Het
Lrp10 C A 14: 54,706,619 (GRCm39) N518K possibly damaging Het
Lsr A G 7: 30,658,706 (GRCm39) V247A possibly damaging Het
Mfsd6 A T 1: 52,748,862 (GRCm39) M1K probably null Het
Mprip T A 11: 59,631,941 (GRCm39) probably null Het
Myo3b G T 2: 70,257,160 (GRCm39) probably benign Het
Oprd1 A G 4: 131,844,696 (GRCm39) F104S possibly damaging Het
Or1l4 T C 2: 37,091,883 (GRCm39) V210A probably benign Het
Or2g1 T A 17: 38,107,162 (GRCm39) Y276N probably damaging Het
Or4b1d A T 2: 89,969,006 (GRCm39) I159N possibly damaging Het
Or5b109 C T 19: 13,212,418 (GRCm39) S268L probably damaging Het
Palb2 A G 7: 121,712,479 (GRCm39) V591A probably damaging Het
Pcdhb18 A T 18: 37,623,786 (GRCm39) D372V probably damaging Het
Phc3 A G 3: 30,991,002 (GRCm39) V405A probably damaging Het
Phf20l1 A T 15: 66,513,796 (GRCm39) probably benign Het
Pik3ip1 A G 11: 3,283,259 (GRCm39) K57E possibly damaging Het
Pkhd1l1 G A 15: 44,455,372 (GRCm39) M4044I probably benign Het
Pkhd1l1 T C 15: 44,460,298 (GRCm39) V4169A probably benign Het
Pklr A T 3: 89,049,963 (GRCm39) I313F probably damaging Het
Plxna4 T A 6: 32,179,160 (GRCm39) T952S probably benign Het
Pop4 A T 7: 37,962,730 (GRCm39) I178N probably damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Prss40 A C 1: 34,597,182 (GRCm39) V122G probably damaging Het
Rapgef2 C A 3: 78,981,614 (GRCm39) probably null Het
Rbm19 A G 5: 120,269,311 (GRCm39) D538G probably damaging Het
Rnf44 G A 13: 54,829,803 (GRCm39) R312* probably null Het
Rock1 T C 18: 10,070,215 (GRCm39) probably benign Het
Rrp1b A G 17: 32,275,875 (GRCm39) E474G probably damaging Het
Ryr2 T A 13: 11,699,365 (GRCm39) I2959F probably damaging Het
Sidt2 A G 9: 45,850,803 (GRCm39) S801P probably damaging Het
Skint6 T C 4: 112,870,153 (GRCm39) I602V probably benign Het
Slc6a19 C A 13: 73,848,590 (GRCm39) V55L probably damaging Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Trappc11 C A 8: 47,966,964 (GRCm39) V440F probably damaging Het
Vmn1r236 G A 17: 21,507,108 (GRCm39) W75* probably null Het
Vmn2r52 A G 7: 9,892,799 (GRCm39) F780S probably benign Het
Vmn2r82 G T 10: 79,217,149 (GRCm39) A494S possibly damaging Het
Vwa3b A T 1: 37,084,049 (GRCm39) K74M probably damaging Het
Wrn T A 8: 33,738,989 (GRCm39) I1037F possibly damaging Het
Zfp13 T C 17: 23,799,819 (GRCm39) T82A probably benign Het
Zfp82 T C 7: 29,756,890 (GRCm39) E64G probably benign 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
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
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