Incidental Mutation 'R5441:Or6ae1'
ID 427180
Institutional Source Beutler Lab
Gene Symbol Or6ae1
Ensembl Gene ENSMUSG00000051180
Gene Name olfactory receptor family 6 subfamily AE member 1
Synonyms Olfr522, GA_x6K02T2PBJ9-42315125-42314187, MOR103-5
MMRRC Submission 043006-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R5441 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 139741923-139742861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139742564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 100 (T100A)
Ref Sequence ENSEMBL: ENSMUSP00000057288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050585]
AlphaFold Q8VGL1
Predicted Effect probably benign
Transcript: ENSMUST00000050585
AA Change: T100A

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000057288
Gene: ENSMUSG00000051180
AA Change: T100A

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 1.7e-54 PFAM
Pfam:7tm_1 42 291 1.2e-21 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (56/57)
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
Abca12 A G 1: 71,334,215 (GRCm39) Y1096H probably damaging Het
Aspa A T 11: 73,196,420 (GRCm39) F261I probably damaging Het
Atm C A 9: 53,427,767 (GRCm39) G448* probably null Het
Atmin T A 8: 117,684,696 (GRCm39) D785E probably damaging Het
Car1 G C 3: 14,841,364 (GRCm39) R90G probably damaging Het
Cdh11 T C 8: 103,374,178 (GRCm39) D520G probably benign Het
Cers5 T A 15: 99,649,119 (GRCm39) K50* probably null Het
Chad A T 11: 94,459,118 (GRCm39) D340V probably benign Het
Cspg5 T C 9: 110,075,711 (GRCm39) I68T probably benign Het
Fcgbpl1 C T 7: 27,856,339 (GRCm39) T2042M probably damaging Het
Fcrla T A 1: 170,752,991 (GRCm39) probably benign Het
Fer1l4 T A 2: 155,865,177 (GRCm39) D1608V probably benign Het
Fzd5 T A 1: 64,774,576 (GRCm39) Q395L probably benign Het
Gm7664 T A 13: 62,676,464 (GRCm39) probably benign Het
Hk3 T C 13: 55,162,869 (GRCm39) E2G probably damaging Het
Hmcn2 G A 2: 31,296,428 (GRCm39) E2677K possibly damaging Het
Hydin T C 8: 111,291,741 (GRCm39) L3411P possibly damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Lysmd2 C T 9: 75,533,254 (GRCm39) H70Y possibly damaging Het
Msi2 A G 11: 88,370,818 (GRCm39) probably benign Het
Msi2 G A 11: 88,608,921 (GRCm39) probably benign Het
Napsa T A 7: 44,230,817 (GRCm39) probably benign Het
Nlrp4a T A 7: 26,153,578 (GRCm39) L710M probably damaging Het
Or10g1 T A 14: 52,647,414 (GRCm39) K305M probably benign Het
Or12d13 T C 17: 37,647,159 (GRCm39) probably null Het
Or5m13 T A 2: 85,748,934 (GRCm39) F222I probably benign Het
Or9a2 C T 6: 41,748,782 (GRCm39) M150I probably benign Het
Plbd2 T A 5: 120,637,147 (GRCm39) Y105F probably benign Het
Plppr5 A T 3: 117,456,120 (GRCm39) I214F possibly damaging Het
Pramel34 A T 5: 93,784,456 (GRCm39) M139K possibly damaging Het
Ptcd3 A G 6: 71,858,505 (GRCm39) V655A possibly damaging Het
Ptpn14 T C 1: 189,530,767 (GRCm39) L78P probably damaging Het
Ralgapa1 A C 12: 55,766,408 (GRCm39) D1295E probably damaging Het
Rnf213 G A 11: 119,299,846 (GRCm39) D192N probably damaging Het
Ropn1 A G 16: 34,487,167 (GRCm39) I34M probably damaging Het
Rpe65 G T 3: 159,310,038 (GRCm39) G104C probably damaging Het
Scgb2b27 T C 7: 33,712,582 (GRCm39) probably benign Het
Sh3bgr T C 16: 96,007,117 (GRCm39) I29T possibly damaging Het
Smg1 T C 7: 117,794,304 (GRCm39) probably benign Het
Stim2 T A 5: 54,232,712 (GRCm39) C68* probably null Het
Syne2 G A 12: 76,035,917 (GRCm39) V3736I possibly damaging Het
Tbx19 T C 1: 164,981,249 (GRCm39) N82D probably damaging Het
Tdp1 T A 12: 99,876,544 (GRCm39) V353D probably damaging Het
Tg T A 15: 66,568,369 (GRCm39) I1352K possibly damaging Het
Thsd4 T C 9: 59,887,066 (GRCm39) T919A probably damaging Het
Tmprss11f A T 5: 86,676,062 (GRCm39) M373K probably damaging Het
Tmprss15 T A 16: 78,868,335 (GRCm39) probably null Het
Tpd52 A T 3: 9,068,466 (GRCm39) Y16* probably null Het
Ube2o G A 11: 116,435,268 (GRCm39) R507C probably damaging Het
Unc93b1 T C 19: 3,993,703 (GRCm39) F382L probably benign Het
Vav2 A T 2: 27,160,122 (GRCm39) probably benign Het
Vmn1r207 T C 13: 22,910,686 (GRCm39) noncoding transcript Het
Zan T A 5: 137,435,013 (GRCm39) I2127F unknown Het
Zfp748 C A 13: 67,688,737 (GRCm39) C841F probably damaging Het
Zic4 C A 9: 91,266,253 (GRCm39) P299Q probably damaging Het
Other mutations in Or6ae1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01806:Or6ae1 APN 7 139,742,841 (GRCm39) missense probably benign 0.01
IGL02121:Or6ae1 APN 7 139,742,607 (GRCm39) missense probably benign 0.10
IGL02399:Or6ae1 APN 7 139,742,513 (GRCm39) missense probably benign
IGL02803:Or6ae1 APN 7 139,742,287 (GRCm39) missense possibly damaging 0.92
R0446:Or6ae1 UTSW 7 139,742,384 (GRCm39) missense probably damaging 1.00
R0538:Or6ae1 UTSW 7 139,742,144 (GRCm39) missense probably damaging 1.00
R0707:Or6ae1 UTSW 7 139,742,002 (GRCm39) missense probably damaging 1.00
R1466:Or6ae1 UTSW 7 139,742,116 (GRCm39) missense probably damaging 1.00
R1466:Or6ae1 UTSW 7 139,742,116 (GRCm39) missense probably damaging 1.00
R1584:Or6ae1 UTSW 7 139,742,116 (GRCm39) missense probably damaging 1.00
R1893:Or6ae1 UTSW 7 139,742,734 (GRCm39) missense probably damaging 1.00
R1895:Or6ae1 UTSW 7 139,742,726 (GRCm39) missense possibly damaging 0.82
R2004:Or6ae1 UTSW 7 139,742,729 (GRCm39) missense probably damaging 0.98
R2060:Or6ae1 UTSW 7 139,742,737 (GRCm39) missense probably damaging 1.00
R2067:Or6ae1 UTSW 7 139,742,822 (GRCm39) missense possibly damaging 0.69
R4841:Or6ae1 UTSW 7 139,742,602 (GRCm39) missense possibly damaging 0.94
R4842:Or6ae1 UTSW 7 139,742,602 (GRCm39) missense possibly damaging 0.94
R4956:Or6ae1 UTSW 7 139,741,993 (GRCm39) missense possibly damaging 0.70
R5189:Or6ae1 UTSW 7 139,742,632 (GRCm39) missense probably damaging 0.98
R5325:Or6ae1 UTSW 7 139,742,026 (GRCm39) missense probably damaging 1.00
R5618:Or6ae1 UTSW 7 139,742,185 (GRCm39) missense probably damaging 1.00
R6031:Or6ae1 UTSW 7 139,742,722 (GRCm39) missense possibly damaging 0.82
R6031:Or6ae1 UTSW 7 139,742,722 (GRCm39) missense possibly damaging 0.82
R6609:Or6ae1 UTSW 7 139,742,476 (GRCm39) missense probably benign
R7154:Or6ae1 UTSW 7 139,741,997 (GRCm39) missense probably benign 0.00
R8370:Or6ae1 UTSW 7 139,742,681 (GRCm39) missense probably damaging 0.98
R8765:Or6ae1 UTSW 7 139,742,467 (GRCm39) missense probably benign
R9002:Or6ae1 UTSW 7 139,742,198 (GRCm39) missense probably damaging 0.99
R9112:Or6ae1 UTSW 7 139,742,660 (GRCm39) missense
R9431:Or6ae1 UTSW 7 139,741,942 (GRCm39) missense probably benign 0.04
R9513:Or6ae1 UTSW 7 139,742,822 (GRCm39) missense possibly damaging 0.69
R9563:Or6ae1 UTSW 7 139,742,233 (GRCm39) missense probably damaging 1.00
R9641:Or6ae1 UTSW 7 139,742,771 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCATTTCAATGGCAGTGGTG -3'
(R):5'- AGAACCTGGTCATTGTGGGC -3'

Sequencing Primer
(F):5'- ATTGGGGCCACAGAACCTG -3'
(R):5'- CACCATCAGTGCTAGCCG -3'
Posted On 2016-09-01