Incidental Mutation 'R9706:Or5ar1'
ID 729788
Institutional Source Beutler Lab
Gene Symbol Or5ar1
Ensembl Gene ENSMUSG00000075208
Gene Name olfactory receptor family 5 subfamily AR member 1
Synonyms MOR180-1, Olfr1019, GA_x6K02T2Q125-47320309-47319377
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R9706 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 85671201-85672133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85671658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 159 (H159L)
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: H159L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099694
Gene: ENSMUSG00000075208
AA Change: H159L

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: H159L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 G A 8: 41,248,490 (GRCm39) R200H probably benign Het
Atad3a C T 4: 155,834,929 (GRCm39) probably null Het
Atg16l1 T C 1: 87,713,977 (GRCm39) F463L possibly damaging Het
Camsap3 C T 8: 3,658,689 (GRCm39) T1209I possibly damaging Het
Cldn10 T A 14: 119,099,189 (GRCm39) M101K probably damaging Het
Crb2 G A 2: 37,681,215 (GRCm39) G686D probably damaging Het
Creb3 T A 4: 43,565,520 (GRCm39) L209* probably null Het
Crocc C A 4: 140,746,046 (GRCm39) R1855L possibly damaging Het
Decr2 A T 17: 26,302,869 (GRCm39) M169K probably benign Het
Defb22 T C 2: 152,327,820 (GRCm39) T122A unknown Het
Dnaaf6rt A C 1: 31,262,252 (GRCm39) E78A possibly damaging Het
Dnah17 A T 11: 118,017,026 (GRCm39) I238N probably damaging Het
Efcab14 T A 4: 115,625,901 (GRCm39) S457T possibly damaging Het
Ephb3 A T 16: 21,039,193 (GRCm39) I604F probably damaging Het
Fam184a T C 10: 53,575,249 (GRCm39) D120G probably damaging Het
Fcrlb T A 1: 170,735,474 (GRCm39) T267S possibly damaging Het
Gm15446 A T 5: 110,091,161 (GRCm39) Q471L probably damaging Het
H2-Q4 A T 17: 35,599,129 (GRCm39) Y133F probably damaging Het
H2-T24 A T 17: 36,325,735 (GRCm39) H285Q probably benign Het
Hc A C 2: 34,914,196 (GRCm39) V837G probably damaging Het
Hmcn2 G A 2: 31,305,279 (GRCm39) V3151I probably benign Het
Inpp5e T A 2: 26,292,126 (GRCm39) M311L probably benign Het
Inpp5j A G 11: 3,449,960 (GRCm39) F644S possibly damaging Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Lingo3 A T 10: 80,670,288 (GRCm39) F547L probably damaging Het
Lrrc47 T G 4: 154,096,487 (GRCm39) L94R probably damaging Het
Lrriq1 A G 10: 102,881,902 (GRCm39) F155S Het
Masp2 A G 4: 148,696,597 (GRCm39) E398G probably benign Het
Mcm3ap C T 10: 76,312,352 (GRCm39) S477L probably damaging Het
Mllt10 T C 2: 18,151,655 (GRCm39) V256A possibly damaging Het
Muc1 T A 3: 89,138,888 (GRCm39) I499K probably benign Het
Nup50 G A 15: 84,811,648 (GRCm39) probably null Het
Or13a21 A T 7: 139,999,266 (GRCm39) I140N probably damaging Het
Or4p20 T A 2: 88,253,779 (GRCm39) M197L probably benign Het
Or52e18 A G 7: 104,609,195 (GRCm39) V248A probably damaging Het
Pclo A T 5: 14,905,683 (GRCm39) H4971L unknown Het
Pcsk1 G T 13: 75,247,473 (GRCm39) probably null Het
Pik3r5 C A 11: 68,381,426 (GRCm39) T204N probably benign Het
Prrc2b T C 2: 32,107,300 (GRCm39) V1621A probably benign Het
Ptchd4 A G 17: 42,814,806 (GRCm39) *902W probably null Het
R3hdm2 A G 10: 127,334,298 (GRCm39) D907G probably benign Het
R3hdm4 A T 10: 79,752,655 (GRCm39) probably null Het
Rbpms2 C T 9: 65,558,285 (GRCm39) A107V probably benign Het
Rgs14 G A 13: 55,531,934 (GRCm39) E544K probably benign Het
Sacs C T 14: 61,445,822 (GRCm39) Q2623* probably null Het
Sec16b G A 1: 157,378,695 (GRCm39) probably null Het
Spire1 C T 18: 67,636,508 (GRCm39) R386Q probably benign Het
Sqle A T 15: 59,201,625 (GRCm39) Y492F probably damaging Het
Stk38l C T 6: 146,677,104 (GRCm39) T427I probably benign Het
Tbx5 C A 5: 119,979,909 (GRCm39) L152I probably benign Het
Vmn2r101 T C 17: 19,809,925 (GRCm39) M237T probably damaging Het
Vmn2r58 A T 7: 41,510,000 (GRCm39) F526I probably damaging Het
Vwf G A 6: 125,601,536 (GRCm39) R826Q 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
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
Predicted Primers PCR Primer
(F):5'- GGCCTTCAGCTGATCGAATTC -3'
(R):5'- TATTGCTCCCAGGATGCTGG -3'

Sequencing Primer
(F):5'- GCCTTCAGCTGATCGAATTCTGATG -3'
(R):5'- GCTGGCTGATTTTCTAACAAAGCAC -3'
Posted On 2022-10-06