Incidental Mutation 'R7697:Or5aq6'
ID 593694
Institutional Source Beutler Lab
Gene Symbol Or5aq6
Ensembl Gene ENSMUSG00000075161
Gene Name olfactory receptor family 5 subfamily AQ member 6
Synonyms Olfr1109, GA_x6K02T2Q125-48586461-48585523, MOR172-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R7697 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 86921539-86926352 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86923162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 193 (H193L)
Ref Sequence ENSEMBL: ENSMUSP00000150159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099863] [ENSMUST00000214636] [ENSMUST00000217066]
AlphaFold A2AT96
Predicted Effect probably benign
Transcript: ENSMUST00000099863
AA Change: H193L

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097449
Gene: ENSMUSG00000075161
AA Change: H193L

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 8.3e-52 PFAM
Pfam:7tm_1 41 290 6.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214636
AA Change: H193L

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000217066
AA Change: H193L

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 T C 14: 54,500,216 (GRCm39) V87A probably damaging Het
Acadsb A G 7: 131,031,698 (GRCm39) E178G probably damaging Het
Acoxl A G 2: 127,820,702 (GRCm39) T365A probably benign Het
Adcy8 T G 15: 64,618,850 (GRCm39) I768L probably benign Het
Bloc1s4 A G 5: 36,905,959 (GRCm39) S11P probably benign Het
Brinp2 T C 1: 158,095,496 (GRCm39) I122V probably benign Het
Brwd1 T C 16: 95,847,601 (GRCm39) D673G probably benign Het
Cbx8 C A 11: 118,931,637 (GRCm39) E14* probably null Het
Cep295 T A 9: 15,266,006 (GRCm39) M49L probably benign Het
Cfap157 T C 2: 32,669,765 (GRCm39) N273D probably benign Het
Cntn3 A T 6: 102,185,127 (GRCm39) V663E probably damaging Het
Cntn3 C T 6: 102,185,128 (GRCm39) V663M probably damaging Het
Cspg5 G C 9: 110,085,294 (GRCm39) R488S probably damaging Het
Csrnp2 A T 15: 100,385,953 (GRCm39) M95K probably damaging Het
Dnah3 A T 7: 119,566,657 (GRCm39) V136E Het
Drg2 T A 11: 60,353,003 (GRCm39) I212N probably damaging Het
Egfem1 T C 3: 29,744,346 (GRCm39) probably null Het
Eif1ad18 T C 12: 88,050,749 (GRCm39) Y95H probably damaging Het
Enpep T A 3: 129,102,750 (GRCm39) D402V probably damaging Het
Fanci T A 7: 79,056,040 (GRCm39) probably null Het
Fgd6 T A 10: 93,881,306 (GRCm39) V720D probably damaging Het
Fhod1 T A 8: 106,074,563 (GRCm39) probably benign Het
Flnc T A 6: 29,456,516 (GRCm39) I2238N probably damaging Het
Frmd4a A G 2: 4,488,892 (GRCm39) E79G probably damaging Het
Gabrr2 A T 4: 33,071,358 (GRCm39) Y66F probably benign Het
Ggnbp1 T G 17: 27,249,736 (GRCm39) I192S probably benign Het
Gm32742 C T 9: 51,058,901 (GRCm39) V1039I probably benign Het
H2-D1 T C 17: 35,482,121 (GRCm39) L11P probably damaging Het
Hsd17b4 A G 18: 50,263,208 (GRCm39) Y25C probably damaging Het
Ildr2 C A 1: 166,122,300 (GRCm39) Q248K probably benign Het
Klrb1c T C 6: 128,757,273 (GRCm39) H264R probably benign Het
Lrp11 C T 10: 7,479,983 (GRCm39) A346V probably benign Het
Mast4 G A 13: 102,875,711 (GRCm39) P1319L probably damaging Het
Mcm9 A C 10: 53,491,990 (GRCm39) F392V Het
Med12l C T 3: 59,148,078 (GRCm39) A965V probably damaging Het
Mrps7 A G 11: 115,495,701 (GRCm39) T80A probably benign Het
Mtor T A 4: 148,624,765 (GRCm39) Y2125* probably null Het
Myoc A G 1: 162,475,049 (GRCm39) E200G probably damaging Het
Natd1 A G 11: 60,797,808 (GRCm39) V39A probably damaging Het
Notch4 C T 17: 34,789,159 (GRCm39) T486I probably damaging Het
Or10am5 T C 7: 6,517,645 (GRCm39) Y261C probably damaging Het
Or10n1 A G 9: 39,525,157 (GRCm39) Q98R probably damaging Het
Or2c1 G A 16: 3,657,430 (GRCm39) V198M probably damaging Het
Pdss2 T A 10: 43,221,544 (GRCm39) I152N probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plec T C 15: 76,065,885 (GRCm39) E1395G unknown Het
Polr2b T C 5: 77,468,059 (GRCm39) Y120H probably damaging Het
Pyroxd2 C T 19: 42,735,805 (GRCm39) C99Y probably benign Het
Rela T C 19: 5,691,630 (GRCm39) V268A probably damaging Het
Rgs3 C T 4: 62,575,379 (GRCm39) P589S probably benign Het
Rtn1 A G 12: 72,455,151 (GRCm39) S59P probably benign Het
Siae A G 9: 37,544,950 (GRCm39) Y315C probably damaging Het
Susd3 C A 13: 49,391,074 (GRCm39) W147L probably damaging Het
Ttn A T 2: 76,702,047 (GRCm39) probably null Het
Ubr3 A G 2: 69,728,030 (GRCm39) Y131C probably damaging Het
Unc80 C T 1: 66,677,104 (GRCm39) P2011L possibly damaging Het
Usp9y T C Y: 1,316,990 (GRCm39) E1853G possibly damaging Het
Wls C A 3: 159,616,955 (GRCm39) H331Q probably benign Het
Xkr6 C A 14: 63,844,628 (GRCm39) P217Q probably damaging Het
Other mutations in Or5aq6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Or5aq6 APN 2 86,923,643 (GRCm39) missense probably benign
IGL01926:Or5aq6 APN 2 86,923,318 (GRCm39) missense probably damaging 1.00
IGL03195:Or5aq6 APN 2 86,922,913 (GRCm39) missense probably damaging 1.00
R0550:Or5aq6 UTSW 2 86,923,473 (GRCm39) missense probably benign 0.00
R1334:Or5aq6 UTSW 2 86,923,571 (GRCm39) missense probably damaging 0.98
R1677:Or5aq6 UTSW 2 86,923,081 (GRCm39) missense probably benign
R1753:Or5aq6 UTSW 2 86,923,571 (GRCm39) missense probably damaging 0.98
R3933:Or5aq6 UTSW 2 86,923,106 (GRCm39) missense probably benign 0.01
R4151:Or5aq6 UTSW 2 86,923,514 (GRCm39) missense probably benign 0.07
R4296:Or5aq6 UTSW 2 86,922,974 (GRCm39) missense probably benign 0.00
R6654:Or5aq6 UTSW 2 86,923,394 (GRCm39) missense probably benign 0.23
R6657:Or5aq6 UTSW 2 86,923,403 (GRCm39) missense probably benign 0.00
R8178:Or5aq6 UTSW 2 86,923,220 (GRCm39) missense possibly damaging 0.94
R8413:Or5aq6 UTSW 2 86,923,502 (GRCm39) missense probably benign 0.25
R8531:Or5aq6 UTSW 2 86,923,670 (GRCm39) missense probably benign 0.00
R8681:Or5aq6 UTSW 2 86,923,390 (GRCm39) missense possibly damaging 0.79
R8682:Or5aq6 UTSW 2 86,923,390 (GRCm39) missense possibly damaging 0.79
R8771:Or5aq6 UTSW 2 86,923,294 (GRCm39) missense probably benign 0.01
R9185:Or5aq6 UTSW 2 86,923,200 (GRCm39) missense possibly damaging 0.88
R9387:Or5aq6 UTSW 2 86,923,390 (GRCm39) missense possibly damaging 0.79
R9388:Or5aq6 UTSW 2 86,923,390 (GRCm39) missense possibly damaging 0.79
R9389:Or5aq6 UTSW 2 86,923,390 (GRCm39) missense possibly damaging 0.79
R9390:Or5aq6 UTSW 2 86,923,390 (GRCm39) missense possibly damaging 0.79
R9483:Or5aq6 UTSW 2 86,923,390 (GRCm39) missense possibly damaging 0.79
R9680:Or5aq6 UTSW 2 86,923,390 (GRCm39) missense possibly damaging 0.79
Z1176:Or5aq6 UTSW 2 86,923,568 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- CTGAGAGCTGGGCTGGATATAAC -3'
(R):5'- CTATGTGGCAATTGTAAACCCC -3'

Sequencing Primer
(F):5'- GCTGGGCTGGATATAACTAAATGTTC -3'
(R):5'- GTGGCAATTGTAAACCCCTTAATG -3'
Posted On 2019-11-12