Incidental Mutation 'R4459:Or5aq1'
ID 330048
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 041579-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4459 (G1)
Quality Score 225
Status Not 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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C T 14: 118,836,805 (GRCm39) R652Q probably benign Het
Anks1b G A 10: 90,346,706 (GRCm39) V669I probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l G A 3: 88,873,541 (GRCm39) R108Q probably damaging Het
BC049715 G A 6: 136,817,050 (GRCm39) A97T probably damaging Het
Cyp11b1 T A 15: 74,708,208 (GRCm39) E422D probably damaging Het
Dmxl1 A T 18: 50,094,283 (GRCm39) I2920F possibly damaging Het
Dnaaf6rt A G 1: 31,262,405 (GRCm39) D129G probably damaging Het
Efcab6 C T 15: 83,788,490 (GRCm39) G935S probably damaging Het
Esp3 C G 17: 40,944,478 (GRCm39) T40S probably null Het
Gc T C 5: 89,589,146 (GRCm39) M206V probably benign Het
Gm15446 A T 5: 110,091,107 (GRCm39) H453L probably benign Het
Hes6 A G 1: 91,340,061 (GRCm39) S132P probably damaging Het
Ighg2b T C 12: 113,270,578 (GRCm39) Y184C unknown Het
Itga2 C G 13: 114,980,019 (GRCm39) D1061H probably damaging Het
Kcnj5 A G 9: 32,233,691 (GRCm39) I208T probably damaging Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Letm2 A G 8: 26,076,715 (GRCm39) C296R probably damaging Het
Lrfn4 C T 19: 4,662,662 (GRCm39) V452I probably benign Het
Mypn A G 10: 63,028,211 (GRCm39) V284A probably damaging Het
Or14j9 G A 17: 37,874,365 (GRCm39) T279I probably damaging Het
Or2y1e A T 11: 49,218,703 (GRCm39) N155I probably damaging Het
Or8c20 T A 9: 38,261,288 (GRCm39) V297D probably damaging Het
Pcdhgb6 C T 18: 37,875,759 (GRCm39) P156S probably benign Het
Pou2f1 A G 1: 165,722,575 (GRCm39) F337L probably damaging Het
Prl7a2 A G 13: 27,849,979 (GRCm39) V31A probably benign Het
Rasal2 A G 1: 157,003,402 (GRCm39) F419S possibly damaging Het
Rmnd5a C T 6: 71,373,865 (GRCm39) G310R probably damaging Het
Rrm2b T A 15: 37,945,397 (GRCm39) probably null Het
Smg8 T C 11: 86,976,396 (GRCm39) D395G probably benign Het
Snx30 A T 4: 59,885,022 (GRCm39) R221* probably null Het
Tyk2 T C 9: 21,035,711 (GRCm39) E157G probably damaging Het
Wdr90 T A 17: 26,079,976 (GRCm39) T120S possibly damaging Het
Zfp747l1 A G 7: 126,983,917 (GRCm39) L395P probably damaging Het
Zfp804b A T 5: 6,821,481 (GRCm39) D491E 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
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
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'- TTCAGCATAGGGATGACCAAGG -3'
(R):5'- GCACTCAAATGGTTCTTGCAAG -3'

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