Incidental Mutation 'R4461:Or5aq1'
ID 330129
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 041720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4461 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86965725-86970577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86966005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 220 (H220R)
Ref Sequence ENSEMBL: ENSMUSP00000149495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099861] [ENSMUST00000152758]
AlphaFold Q8VG38
Predicted Effect probably benign
Transcript: ENSMUST00000099861
AA Change: H220R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000097447
Gene: ENSMUSG00000075159
AA Change: H220R

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.1e-53 PFAM
Pfam:7tm_1 41 290 1.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152758
AA Change: H220R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (50/50)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 T C 17: 66,292,932 (GRCm39) probably null Het
Apex1 T C 14: 51,163,970 (GRCm39) V165A probably damaging Het
Btbd17 C T 11: 114,684,815 (GRCm39) D75N possibly damaging Het
Chd2 T C 7: 73,190,622 (GRCm39) probably benign Het
Coq10a T C 10: 128,200,347 (GRCm39) N138S possibly damaging Het
Ctbp1 A T 5: 33,408,357 (GRCm39) Y192N probably damaging Het
Cx3cl1 A G 8: 95,507,184 (GRCm39) *396W probably null Het
D6Ertd527e T C 6: 87,088,299 (GRCm39) I154T unknown Het
Dao T A 5: 114,157,987 (GRCm39) V203E probably damaging Het
Egr4 G A 6: 85,489,322 (GRCm39) A246V probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
H2-Eb2 T A 17: 34,552,497 (GRCm39) V114E possibly damaging Het
Hpgds A G 6: 65,100,618 (GRCm39) L120P probably damaging Het
Ikbke C T 1: 131,193,659 (GRCm39) V464I probably benign Het
Kank2 G A 9: 21,706,041 (GRCm39) Q326* probably null Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Klkb1 A G 8: 45,726,612 (GRCm39) S464P probably damaging Het
Kmt2a A G 9: 44,760,263 (GRCm39) Y529H probably damaging Het
Kmt2c A G 5: 25,504,874 (GRCm39) V3478A probably benign Het
Knl1 A C 2: 118,890,080 (GRCm39) N44T probably benign Het
Letm2 A G 8: 26,076,715 (GRCm39) C296R probably damaging Het
Lrrc37a A G 11: 103,355,180 (GRCm39) probably null Het
Med20 T C 17: 47,929,842 (GRCm39) V93A probably benign Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Muc1 A T 3: 89,138,870 (GRCm39) D493V probably damaging Het
Nek2 C T 1: 191,554,827 (GRCm39) P180S probably damaging Het
Nin A T 12: 70,089,359 (GRCm39) M1352K probably benign Het
P3h3 A T 6: 124,822,531 (GRCm39) S547T probably benign Het
Pik3c2g C T 6: 139,787,407 (GRCm39) probably benign Het
Pkd1l3 A G 8: 110,359,345 (GRCm39) probably null Het
Pzp T C 6: 128,501,003 (GRCm39) I118M probably benign Het
Rps6ka5 C A 12: 100,537,123 (GRCm39) D536Y probably damaging Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Siglece T C 7: 43,300,929 (GRCm39) Q462R probably benign Het
Sirt3 T C 7: 140,444,913 (GRCm39) D295G possibly damaging Het
Snph G A 2: 151,435,767 (GRCm39) S318L probably benign Het
Snx18 T C 13: 113,753,731 (GRCm39) T401A probably damaging Het
Tefm A G 11: 80,028,875 (GRCm39) probably null Het
Thada T C 17: 84,733,665 (GRCm39) Y994C probably damaging Het
Trmt1 A G 8: 85,425,778 (GRCm39) N531D probably benign Het
Ttc17 A G 2: 94,196,916 (GRCm39) V477A probably benign Het
Ubxn10 T A 4: 138,448,187 (GRCm39) Q163L probably benign Het
Ulk4 A T 9: 120,985,950 (GRCm39) I908N possibly damaging Het
Zfp747l1 A G 7: 126,983,917 (GRCm39) L395P probably damaging Het
Zscan12 C T 13: 21,550,789 (GRCm39) S136L possibly 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
R2226:Or5aq1 UTSW 2 86,966,590 (GRCm39) missense possibly damaging 0.87
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
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'- GGGTTCAGCATAGGGATGAC -3'
(R):5'- GGGGCCTCATAAATTCCATGATTC -3'

Sequencing Primer
(F):5'- TTCAGCATAGGGATGACCAAGGTG -3'
(R):5'- TTGCATGCTCTGATGCAC -3'
Posted On 2015-07-21