Incidental Mutation 'R5451:Or5aq1b'
ID 434569
Institutional Source Beutler Lab
Gene Symbol Or5aq1b
Ensembl Gene ENSMUSG00000075163
Gene Name olfactory receptor family 5 subfamily AQ member 1B
Synonyms GA_x6K02T2Q125-48565383-48564445, Olfr1107, MOR172-2
MMRRC Submission 043016-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R5451 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86901459-86902567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86902341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 46 (I46V)
Ref Sequence ENSEMBL: ENSMUSP00000150135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099865] [ENSMUST00000214049]
AlphaFold A2AVB8
Predicted Effect probably damaging
Transcript: ENSMUST00000099865
AA Change: I46V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097450
Gene: ENSMUSG00000075163
AA Change: I46V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.9e-53 PFAM
Pfam:7tm_1 41 290 1.9e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214049
AA Change: I46V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 96% (52/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,334,076 (GRCm39) F1142S possibly damaging Het
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Calhm2 T A 19: 47,121,314 (GRCm39) Y285F possibly damaging Het
Casr T C 16: 36,330,270 (GRCm39) T355A probably damaging Het
Ccnq T A 11: 78,642,115 (GRCm39) Q125L possibly damaging Het
Clca3a1 T C 3: 144,733,747 (GRCm39) Y63C probably damaging Het
Cntnap5a T C 1: 115,612,873 (GRCm39) S3P probably benign Het
Col27a1 G A 4: 63,143,476 (GRCm39) G388D probably damaging Het
Cwh43 T C 5: 73,589,256 (GRCm39) M447T probably benign Het
Dnah7b G A 1: 46,281,179 (GRCm39) G2747S possibly damaging Het
Fbxo7 A G 10: 85,864,901 (GRCm39) S51G probably benign Het
Gabbr2 T A 4: 46,684,294 (GRCm39) Y660F probably benign Het
Galnt15 A G 14: 31,751,868 (GRCm39) E140G probably benign Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gsap T A 5: 21,422,445 (GRCm39) L138Q probably damaging Het
Igflr1 A G 7: 30,265,747 (GRCm39) N57S possibly damaging Het
Ighv13-2 A G 12: 114,321,473 (GRCm39) F89L probably damaging Het
Irf2bpl A G 12: 86,928,846 (GRCm39) V609A probably benign Het
Jkampl A G 6: 73,445,850 (GRCm39) V233A probably benign Het
Lingo1 T G 9: 56,527,711 (GRCm39) I293L probably damaging Het
Lrrc14 A G 15: 76,598,173 (GRCm39) D301G probably benign Het
Lsm2 T C 17: 35,201,185 (GRCm39) probably benign Het
Map4 C T 9: 109,866,851 (GRCm39) probably benign Het
Micall1 T A 15: 79,011,104 (GRCm39) probably null Het
Mpp7 T C 18: 7,442,855 (GRCm39) D156G probably null Het
Mybbp1a A G 11: 72,338,939 (GRCm39) D822G probably damaging Het
Naip2 A G 13: 100,325,368 (GRCm39) V180A probably benign Het
Nol10 T A 12: 17,409,103 (GRCm39) Y159* probably null Het
Nphp3 A G 9: 103,919,221 (GRCm39) T1290A probably benign Het
Or12e1 T A 2: 87,022,796 (GRCm39) V255E probably damaging Het
Or7g20 T C 9: 18,946,787 (GRCm39) Y123H probably damaging Het
Pcsk5 T A 19: 17,440,720 (GRCm39) Y1290F possibly damaging Het
Rab42 T C 4: 132,029,827 (GRCm39) N132D probably benign Het
Rfx3 T G 19: 27,827,359 (GRCm39) T76P probably damaging Het
Rps13-ps2 G T 7: 88,180,036 (GRCm39) noncoding transcript Het
Slc12a3 A G 8: 95,083,655 (GRCm39) D894G possibly damaging Het
Slc25a15 G A 8: 22,879,983 (GRCm39) T54I probably benign Het
Slco1c1 A T 6: 141,505,604 (GRCm39) Q461L probably benign Het
Slfn5 T G 11: 82,850,912 (GRCm39) I403R probably damaging Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
Tbc1d32 T A 10: 56,071,571 (GRCm39) T318S possibly damaging Het
Tiam2 G T 17: 3,479,271 (GRCm39) R668M probably damaging Het
Tle7 A T 8: 110,836,503 (GRCm39) I160F probably damaging Het
Trgj4 G T 13: 19,526,335 (GRCm39) probably benign Het
Trim9 A G 12: 70,393,603 (GRCm39) S114P probably benign Het
Trp53i11 T C 2: 93,030,200 (GRCm39) L169P possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r190-ps A G 13: 22,328,901 (GRCm39) noncoding transcript Het
Other mutations in Or5aq1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Or5aq1b APN 2 86,901,563 (GRCm39) missense probably benign 0.00
IGL01521:Or5aq1b APN 2 86,902,077 (GRCm39) missense probably benign 0.11
IGL03350:Or5aq1b APN 2 86,901,904 (GRCm39) missense probably damaging 1.00
PIT4791001:Or5aq1b UTSW 2 86,902,046 (GRCm39) missense possibly damaging 0.94
R0801:Or5aq1b UTSW 2 86,902,407 (GRCm39) nonsense probably null
R1383:Or5aq1b UTSW 2 86,902,136 (GRCm39) missense probably damaging 1.00
R1577:Or5aq1b UTSW 2 86,901,741 (GRCm39) missense probably benign 0.15
R1762:Or5aq1b UTSW 2 86,902,265 (GRCm39) missense probably damaging 1.00
R2027:Or5aq1b UTSW 2 86,901,897 (GRCm39) missense possibly damaging 0.85
R3850:Or5aq1b UTSW 2 86,902,310 (GRCm39) missense possibly damaging 0.89
R5345:Or5aq1b UTSW 2 86,901,836 (GRCm39) missense possibly damaging 0.61
R5409:Or5aq1b UTSW 2 86,902,214 (GRCm39) missense possibly damaging 0.64
R5735:Or5aq1b UTSW 2 86,901,756 (GRCm39) missense probably damaging 1.00
R6091:Or5aq1b UTSW 2 86,901,705 (GRCm39) missense probably benign 0.03
R6869:Or5aq1b UTSW 2 86,902,017 (GRCm39) missense probably benign 0.11
R7080:Or5aq1b UTSW 2 86,902,083 (GRCm39) missense probably damaging 1.00
R8130:Or5aq1b UTSW 2 86,901,570 (GRCm39) missense probably benign 0.09
R8147:Or5aq1b UTSW 2 86,902,017 (GRCm39) missense probably benign 0.11
R9087:Or5aq1b UTSW 2 86,902,299 (GRCm39) missense probably damaging 1.00
R9619:Or5aq1b UTSW 2 86,902,140 (GRCm39) missense possibly damaging 0.94
Z1177:Or5aq1b UTSW 2 86,902,457 (GRCm39) missense probably damaging 1.00
Z1177:Or5aq1b UTSW 2 86,902,109 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- TGCCACATAACGGTCATAAGC -3'
(R):5'- CATCTCATGATAACAAGGAGCTGTAG -3'

Sequencing Primer
(F):5'- CGGTCATAAGCCATCATAGACAG -3'
(R):5'- TGATAACAAGGAGCTGTAGACTATTG -3'
Posted On 2016-10-06