Incidental Mutation 'R2226:Or5aq1'
ID 239710
Institutional Source Beutler Lab
Gene Symbol Or5aq1
Ensembl Gene ENSMUSG00000075159
Gene Name olfactory receptor family 5 subfamily AQ member 1
Synonyms MOR172-4, Olfr1110, GA_x6K02T2Q125-48621299-48620361
MMRRC Submission 040227-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R2226 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86965725-86970577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 86966590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 25 (V25G)
Ref Sequence ENSEMBL: ENSMUSP00000149495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099861] [ENSMUST00000152758]
AlphaFold Q8VG38
Predicted Effect possibly damaging
Transcript: ENSMUST00000099861
AA Change: V25G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097447
Gene: ENSMUSG00000075159
AA Change: V25G

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.1e-53 PFAM
Pfam:7tm_1 41 290 1.4e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000152758
AA Change: V25G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A T 4: 144,190,295 (GRCm39) V2E possibly damaging Het
Aen C A 7: 78,552,199 (GRCm39) T15K probably benign Het
Aggf1 A G 13: 95,507,354 (GRCm39) S144P probably damaging Het
Ar T A X: 97,194,937 (GRCm39) M517K probably benign Het
Ascc3 A G 10: 50,630,148 (GRCm39) T1746A probably benign Het
Atg9b A G 5: 24,591,393 (GRCm39) V735A possibly damaging Het
Atp1b3 A G 9: 96,225,329 (GRCm39) F113S probably damaging Het
Cacna1h T C 17: 25,604,917 (GRCm39) N1132S probably benign Het
Ccdc150 A G 1: 54,404,084 (GRCm39) I943V probably null Het
Cntnap4 A G 8: 113,542,120 (GRCm39) D751G probably damaging Het
Dgkk T A X: 6,741,487 (GRCm39) D102E probably damaging Het
Efhb A T 17: 53,769,457 (GRCm39) probably null Het
Elfn2 A G 15: 78,558,443 (GRCm39) W35R probably damaging Het
Emcn T C 3: 137,109,778 (GRCm39) I140T possibly damaging Het
Epha2 G A 4: 141,048,548 (GRCm39) R569H probably damaging Het
Gabrg2 A T 11: 41,862,735 (GRCm39) F116L probably damaging Het
Gm11555 T G 11: 99,540,585 (GRCm39) R141S unknown Het
Hectd3 T C 4: 116,852,886 (GRCm39) I96T possibly damaging Het
Hnrnpul2 T A 19: 8,802,349 (GRCm39) N405K probably damaging Het
Iigp1 A T 18: 60,522,960 (GRCm39) K26I possibly damaging Het
Kirrel2 T C 7: 30,153,579 (GRCm39) K260R probably damaging Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Krt19 T C 11: 100,032,401 (GRCm39) E260G probably damaging Het
Marchf7 A G 2: 60,060,190 (GRCm39) R106G probably benign Het
Mthfd2l G T 5: 91,096,693 (GRCm39) E105* probably null Het
Mtus1 C T 8: 41,535,812 (GRCm39) V635M probably damaging Het
Ndufaf5 T C 2: 140,030,780 (GRCm39) V222A probably benign Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Nsun7 T A 5: 66,418,562 (GRCm39) Y97* probably null Het
Nxph3 T C 11: 95,404,990 (GRCm39) Y17C probably benign Het
Or2l5 T C 16: 19,333,996 (GRCm39) H130R probably benign Het
Or4k1 A G 14: 50,378,076 (GRCm39) S7P probably damaging Het
Or51a5 A G 7: 102,771,115 (GRCm39) M292T probably benign Het
Or7g19 A T 9: 18,856,177 (GRCm39) I78F probably damaging Het
P2rx2 A G 5: 110,490,745 (GRCm39) F26S probably damaging Het
Pank1 A T 19: 34,804,763 (GRCm39) L131Q probably damaging Het
Pcx T C 19: 4,668,026 (GRCm39) I516T possibly damaging Het
Pkhd1l1 T C 15: 44,376,188 (GRCm39) I950T possibly damaging Het
Ppwd1 A G 13: 104,353,753 (GRCm39) L335P probably damaging Het
Ptch1 A G 13: 63,661,485 (GRCm39) S1218P probably damaging Het
Ptpn4 C T 1: 119,610,515 (GRCm39) R664Q probably damaging Het
Semp2l1 A T 1: 32,584,934 (GRCm39) H325Q probably damaging Het
Sfxn1 A G 13: 54,239,536 (GRCm39) T20A possibly damaging Het
Sgsm3 A G 15: 80,888,069 (GRCm39) E53G probably damaging Het
Slc22a19 C T 19: 7,661,215 (GRCm39) V320M possibly damaging Het
Slc25a33 A T 4: 149,838,306 (GRCm39) I122N probably benign Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign Het
Spin2g A T X: 33,656,599 (GRCm39) I171N possibly damaging Het
Srsf6 G A 2: 162,773,619 (GRCm39) S10N probably damaging Het
Tesl2 T A X: 23,825,173 (GRCm39) M1L probably null Het
Thoc2l T A 5: 104,667,286 (GRCm39) Y603N probably damaging Het
Ttc12 A G 9: 49,353,135 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,742,634 (GRCm39) K336R probably benign Het
Vmn2r108 A T 17: 20,701,295 (GRCm39) Y68* probably null Het
Zfp738 A G 13: 67,818,431 (GRCm39) F520S probably damaging Het
Other mutations in Or5aq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Or5aq1 APN 2 86,966,343 (GRCm39) nonsense probably null
IGL01723:Or5aq1 APN 2 86,965,822 (GRCm39) missense probably benign 0.01
IGL01887:Or5aq1 APN 2 86,965,885 (GRCm39) missense possibly damaging 0.89
IGL01903:Or5aq1 APN 2 86,965,723 (GRCm39) splice site probably null
IGL02214:Or5aq1 APN 2 86,965,849 (GRCm39) missense probably damaging 1.00
R0990:Or5aq1 UTSW 2 86,966,086 (GRCm39) missense possibly damaging 0.69
R1933:Or5aq1 UTSW 2 86,966,188 (GRCm39) missense probably damaging 1.00
R3770:Or5aq1 UTSW 2 86,966,158 (GRCm39) missense probably damaging 1.00
R4459:Or5aq1 UTSW 2 86,966,005 (GRCm39) missense probably benign 0.00
R4461:Or5aq1 UTSW 2 86,966,005 (GRCm39) missense probably benign 0.00
R4780:Or5aq1 UTSW 2 86,966,221 (GRCm39) missense probably damaging 0.99
R5105:Or5aq1 UTSW 2 86,966,554 (GRCm39) missense probably benign 0.01
R5995:Or5aq1 UTSW 2 86,966,200 (GRCm39) missense probably damaging 1.00
R8177:Or5aq1 UTSW 2 86,966,294 (GRCm39) missense possibly damaging 0.92
R9326:Or5aq1 UTSW 2 86,966,647 (GRCm39) missense probably benign 0.32
R9745:Or5aq1 UTSW 2 86,965,783 (GRCm39) missense probably damaging 1.00
Z1177:Or5aq1 UTSW 2 86,966,641 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATTGAGCAGCATCTTTGGAGC -3'
(R):5'- AAATTGACTATGGCTGAGGTTGC -3'

Sequencing Primer
(F):5'- CAGCATCTTTGGAGCAATGATAG -3'
(R):5'- CCCAGGGCAACTCTTCATG -3'
Posted On 2014-10-15