Incidental Mutation 'R0789:Or5as1'
ID 76384
Institutional Source Beutler Lab
Gene Symbol Or5as1
Ensembl Gene ENSMUSG00000075158
Gene Name olfactory receptor family 5 subfamily AS member 1
Synonyms Olfr1111, MOR181-2, GA_x6K02T2Q125-48635468-48634530
MMRRC Submission 038969-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R0789 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86980064-86981003 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86980171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 278 (Y278C)
Ref Sequence ENSEMBL: ENSMUSP00000150760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099860] [ENSMUST00000214492] [ENSMUST00000216378]
AlphaFold Q7TR55
Predicted Effect probably damaging
Transcript: ENSMUST00000099860
AA Change: Y278C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097446
Gene: ENSMUSG00000075158
AA Change: Y278C

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.2e-54 PFAM
Pfam:7tm_1 41 290 7e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214492
AA Change: Y278C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216378
AA Change: Y278C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5131 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.7%
  • 20x: 91.7%
Validation Efficiency 98% (45/46)
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
Asb10 T C 5: 24,744,862 (GRCm39) T111A probably damaging Het
BC024139 T C 15: 76,005,283 (GRCm39) I526M possibly damaging Het
Cacnb4 C T 2: 52,341,895 (GRCm39) V335I probably damaging Het
Ccdc33 C T 9: 58,024,497 (GRCm39) probably benign Het
Cfap58 T G 19: 47,943,748 (GRCm39) I316S probably benign Het
Chpf A T 1: 75,452,407 (GRCm39) L349Q probably damaging Het
Cntnap1 A G 11: 101,072,210 (GRCm39) probably benign Het
Col4a4 G A 1: 82,502,717 (GRCm39) P356S unknown Het
Dnah1 T C 14: 31,026,548 (GRCm39) I777V probably benign Het
Dnah11 A G 12: 117,874,967 (GRCm39) V3966A probably damaging Het
Fbxo38 G A 18: 62,648,570 (GRCm39) S656F possibly damaging Het
Fgf10 T A 13: 118,925,741 (GRCm39) N173K probably benign Het
Flt1 C T 5: 147,576,293 (GRCm39) E572K probably damaging Het
Gabra6 C A 11: 42,205,844 (GRCm39) R336S probably benign Het
Glt8d2 T C 10: 82,500,519 (GRCm39) N77S probably damaging Het
Grem1 C A 2: 113,580,056 (GRCm39) K148N probably benign Het
Hat1 G A 2: 71,252,088 (GRCm39) probably benign Het
Hydin A T 8: 111,293,603 (GRCm39) I3517F possibly damaging Het
Immt A G 6: 71,838,051 (GRCm39) K253R probably damaging Het
Klk1b8 A C 7: 43,595,151 (GRCm39) probably benign Het
Krt39 T C 11: 99,411,888 (GRCm39) Y66C probably benign Het
Mrgprb1 T C 7: 48,105,932 (GRCm39) probably benign Het
Nrp2 A G 1: 62,784,609 (GRCm39) M253V probably benign Het
Omt2b G T 9: 78,235,447 (GRCm39) probably benign Het
Or7g32 C A 9: 19,408,458 (GRCm39) P138H possibly damaging Het
Pcdh20 T C 14: 88,706,226 (GRCm39) Y358C probably damaging Het
Pik3r4 T C 9: 105,562,366 (GRCm39) M1215T probably benign Het
Polr1has T C 17: 37,275,852 (GRCm39) Y145H probably damaging Het
Rasal2 T C 1: 156,984,891 (GRCm39) E927G probably damaging Het
Ryr3 A G 2: 112,611,318 (GRCm39) probably null Het
Scaf8 T C 17: 3,247,112 (GRCm39) C812R possibly damaging Het
Scart2 G T 7: 139,828,133 (GRCm39) G114W probably damaging Het
Smpd4 T C 16: 17,443,690 (GRCm39) V78A probably benign Het
Sp2 A T 11: 96,852,202 (GRCm39) S241T probably benign Het
Tsga10 A T 1: 37,840,868 (GRCm39) I446N possibly damaging Het
Ubr4 G A 4: 139,137,582 (GRCm39) probably null Het
Usp44 T C 10: 93,683,082 (GRCm39) probably benign Het
Usp54 A T 14: 20,612,225 (GRCm39) S864T probably benign Het
Vmn2r56 A G 7: 12,466,762 (GRCm39) Y91H probably damaging Het
Vmn2r96 T C 17: 18,802,738 (GRCm39) V216A possibly damaging Het
Wdr17 A T 8: 55,112,607 (GRCm39) probably benign Het
Zmym6 A G 4: 127,016,615 (GRCm39) T799A possibly damaging Het
Other mutations in Or5as1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Or5as1 APN 2 86,980,169 (GRCm39) missense possibly damaging 0.53
IGL02217:Or5as1 APN 2 86,980,231 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- TCTGGAGTGGAAAATTCTATGGTGAGTGT -3'
(R):5'- AGCATCAAGTCCACAGGAGGCA -3'

Sequencing Primer
(F):5'- agctgcaaagaatatgaaaaagaag -3'
(R):5'- AGGAGCAAAACATTTTCCACTTGTG -3'
Posted On 2013-10-16