Incidental Mutation 'PIT4791001:Or5aq1b'
ID 556955
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # PIT4791001 (G1)
Quality Score 194.009
Status Not validated
Chromosome 2
Chromosomal Location 86901459-86902567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86902046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 144 (M144K)
Ref Sequence ENSEMBL: ENSMUSP00000150135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099865] [ENSMUST00000214049]
AlphaFold A2AVB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000099865
AA Change: M144K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097450
Gene: ENSMUSG00000075163
AA Change: M144K

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.9e-53 PFAM
Pfam:7tm_1 41 290 1.9e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214049
AA Change: M144K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.8%
  • 10x: 83.3%
  • 20x: 68.6%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 G A 15: 72,993,089 (GRCm39) T472I possibly damaging Het
Ambp T A 4: 63,072,298 (GRCm39) probably benign Het
As3mt T A 19: 46,708,788 (GRCm39) F261I probably damaging Het
Atxn1l A G 8: 110,458,579 (GRCm39) L561P probably damaging Het
Cnr2 A G 4: 135,644,263 (GRCm39) T114A probably damaging Het
Dchs1 A G 7: 105,408,178 (GRCm39) Y1885H probably damaging Het
Dcn A G 10: 97,343,604 (GRCm39) N188S probably benign Het
Dennd6b A C 15: 89,070,955 (GRCm39) probably null Het
Dstyk A G 1: 132,377,665 (GRCm39) T424A probably benign Het
Gabrr3 A G 16: 59,250,298 (GRCm39) probably null Het
Gnai3 A G 3: 108,025,621 (GRCm39) S153P probably benign Het
Igkv2-112 T A 6: 68,197,599 (GRCm39) S90R probably damaging Het
Lxn T C 3: 67,365,979 (GRCm39) D173G probably damaging Het
Mcm3ap T A 10: 76,342,307 (GRCm39) I1600N probably damaging Het
Myof A T 19: 37,971,406 (GRCm39) probably null Het
Nrxn1 T C 17: 90,762,931 (GRCm39) probably benign Het
Oaz3 A G 3: 94,340,852 (GRCm39) Y232H unknown Het
Pkdcc C T 17: 83,527,577 (GRCm39) R252* probably null Het
Plcl1 A G 1: 55,741,090 (GRCm39) N907S probably benign Het
Plscr1 T A 9: 92,145,150 (GRCm39) Y53* probably null Het
Pm20d2 T C 4: 33,174,756 (GRCm39) T377A probably benign Het
Ptchd3 T A 11: 121,722,875 (GRCm39) V321D probably damaging Het
Ranbp3l T C 15: 9,060,829 (GRCm39) I366T probably damaging Het
Sardh T C 2: 27,087,660 (GRCm39) E737G probably damaging Het
Scart2 T C 7: 139,853,975 (GRCm39) F326S possibly damaging Het
Scn1a T C 2: 66,103,626 (GRCm39) E1878G probably benign Het
Slit3 T C 11: 35,552,072 (GRCm39) V872A possibly damaging Het
Sugp2 C T 8: 70,713,195 (GRCm39) Q1054* probably null Het
Syne3 T C 12: 104,929,438 (GRCm39) T261A probably benign Het
Tgif2 T C 2: 156,695,232 (GRCm39) S126P probably benign Het
Ticrr T C 7: 79,319,386 (GRCm39) V457A possibly damaging Het
Tm7sf2 T C 19: 6,113,635 (GRCm39) I299V probably benign Het
Tnks1bp1 A G 2: 84,892,902 (GRCm39) E943G probably benign Het
Tpd52l2 T A 2: 181,141,681 (GRCm39) F21L probably benign Het
Tpm2 A G 4: 43,519,263 (GRCm39) L176P probably benign Het
Trim34a C A 7: 103,909,691 (GRCm39) T293K probably benign Het
Ttc23 A T 7: 67,312,135 (GRCm39) D14V probably damaging Het
Twsg1 T C 17: 66,236,706 (GRCm39) E108G probably benign Het
Txndc15 C T 13: 55,869,507 (GRCm39) A220V probably benign Het
Vmn1r183 A G 7: 23,754,266 (GRCm39) Q23R probably damaging Het
Vmn1r31 A G 6: 58,449,028 (GRCm39) V279A probably damaging Het
Vmo1 A C 11: 70,404,661 (GRCm39) C113W probably damaging Het
Zfp984 A G 4: 147,840,603 (GRCm39) S83P probably benign Het
Zik1 A C 7: 10,226,256 (GRCm39) L37R probably benign 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
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
R5451:Or5aq1b UTSW 2 86,902,341 (GRCm39) missense probably damaging 1.00
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'- CGGATTCTCAGGATGGCAATG -3'
(R):5'- TTCTCTCAGAACACAAGTCTAGC -3'

Sequencing Primer
(F):5'- TCTCAGGATGGCAATGATAATATGG -3'
(R):5'- ACAAGTCTAGCACATTCTTTGGCTG -3'
Posted On 2019-06-07