Incidental Mutation 'IGL01338:Or10al6'
ID 74685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10al6
Ensembl Gene ENSMUSG00000083947
Gene Name olfactory receptor family 10 subfamily AL member 6
Synonyms GA_x6K02T2PSCP-2230932-2231897, MOR263-10, Olfr122
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL01338
Quality Score
Status
Chromosome 17
Chromosomal Location 38079533-38083511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38082730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 71 (H71L)
Ref Sequence ENSEMBL: ENSMUSP00000113170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119082] [ENSMUST00000172582] [ENSMUST00000217119]
AlphaFold W4VSP0
Predicted Effect possibly damaging
Transcript: ENSMUST00000119082
AA Change: H71L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113170
Gene: ENSMUSG00000083947
AA Change: H71L

DomainStartEndE-ValueType
Pfam:7tm_4 46 323 2.2e-58 PFAM
Pfam:7TM_GPCR_Srsx 50 320 2.7e-6 PFAM
Pfam:7tm_1 56 305 3.8e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000172582
AA Change: H62L

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134283
Gene: ENSMUSG00000083947
AA Change: H62L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 41 311 9.5e-8 PFAM
Pfam:7tm_1 47 296 7.8e-36 PFAM
Pfam:7tm_4 145 289 1e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215449
Predicted Effect possibly damaging
Transcript: ENSMUST00000217119
AA Change: H62L

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A G 1: 63,591,014 (GRCm39) T494A possibly damaging Het
Adamts16 C T 13: 70,984,234 (GRCm39) C143Y probably damaging Het
Cacna1i A G 15: 80,232,581 (GRCm39) I195V probably damaging Het
Casp7 T C 19: 56,392,896 (GRCm39) S17P probably benign Het
Cfap298 T C 16: 90,722,936 (GRCm39) N266S possibly damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpvl T A 6: 53,951,640 (GRCm39) S48C possibly damaging Het
Cyp2b19 G T 7: 26,458,842 (GRCm39) M138I probably benign Het
Dennd5a T C 7: 109,518,611 (GRCm39) Y510C possibly damaging Het
Derl2 A G 11: 70,901,181 (GRCm39) F229S possibly damaging Het
Dlec1 A G 9: 118,949,979 (GRCm39) E452G probably damaging Het
Dsc2 T C 18: 20,180,214 (GRCm39) K180E probably benign Het
Dus1l G A 11: 120,683,918 (GRCm39) R177C possibly damaging Het
Egfr A G 11: 16,813,020 (GRCm39) I167V probably damaging Het
Fam219b A T 9: 57,445,305 (GRCm39) probably null Het
Fn1 T C 1: 71,665,369 (GRCm39) E916G probably damaging Het
Gm2058 C T 7: 39,238,580 (GRCm39) noncoding transcript Het
Gpd1 T A 15: 99,616,056 (GRCm39) V22E probably damaging Het
Hsf2 T C 10: 57,377,475 (GRCm39) F124L probably damaging Het
I0C0044D17Rik A G 4: 98,708,336 (GRCm39) probably benign Het
Igfbp3 A T 11: 7,158,478 (GRCm39) F262I possibly damaging Het
Klhl18 A G 9: 110,284,501 (GRCm39) Y62H probably damaging Het
Lama2 C T 10: 27,064,268 (GRCm39) E1238K probably benign Het
Man1b1 A G 2: 25,228,239 (GRCm39) K170E probably benign Het
Mcrs1 A T 15: 99,147,382 (GRCm39) I39N probably damaging Het
Mug2 T C 6: 122,026,587 (GRCm39) probably benign Het
Neu3 C A 7: 99,462,629 (GRCm39) G365W probably damaging Het
Nipal3 A C 4: 135,199,194 (GRCm39) probably null Het
Nrxn3 A G 12: 89,221,804 (GRCm39) I528V possibly damaging Het
Osbpl8 A G 10: 111,103,608 (GRCm39) K204R probably damaging Het
Pax8 A G 2: 24,325,931 (GRCm39) S318P possibly damaging Het
Pcdh18 T A 3: 49,710,590 (GRCm39) N242Y probably damaging Het
Pkd1l2 T A 8: 117,786,259 (GRCm39) K649* probably null Het
Ppm1n A T 7: 19,013,179 (GRCm39) D257E probably benign Het
Pxdn A G 12: 30,052,796 (GRCm39) E811G probably damaging Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Rreb1 T C 13: 38,115,010 (GRCm39) C790R probably damaging Het
Rtkn2 G T 10: 67,861,349 (GRCm39) C258F possibly damaging Het
Scn11a G A 9: 119,613,227 (GRCm39) probably benign Het
Snx8 G A 5: 140,343,851 (GRCm39) R96C probably damaging Het
Syne2 A T 12: 76,107,000 (GRCm39) T5649S possibly damaging Het
Tm2d3 T A 7: 65,344,970 (GRCm39) C82* probably null Het
Tnpo2 T C 8: 85,767,155 (GRCm39) L55P probably damaging Het
Tsc22d2 T C 3: 58,324,836 (GRCm39) probably benign Het
Ttll3 T G 6: 113,371,690 (GRCm39) V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 (GRCm39) I86V probably benign Het
Vps13d G A 4: 144,814,892 (GRCm39) T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 (GRCm39) I753T probably damaging Het
Other mutations in Or10al6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Or10al6 APN 17 38,083,505 (GRCm39) missense probably benign 0.00
IGL01447:Or10al6 APN 17 38,083,122 (GRCm39) missense probably damaging 1.00
PIT4514001:Or10al6 UTSW 17 38,082,758 (GRCm39) missense probably damaging 1.00
R0402:Or10al6 UTSW 17 38,083,284 (GRCm39) missense probably damaging 1.00
R0830:Or10al6 UTSW 17 38,082,804 (GRCm39) missense probably damaging 0.99
R2018:Or10al6 UTSW 17 38,083,467 (GRCm39) missense probably benign 0.00
R4258:Or10al6 UTSW 17 38,082,949 (GRCm39) missense probably damaging 1.00
R6371:Or10al6 UTSW 17 38,083,326 (GRCm39) missense probably benign
R6481:Or10al6 UTSW 17 38,083,194 (GRCm39) missense probably damaging 1.00
R7468:Or10al6 UTSW 17 38,082,910 (GRCm39) missense probably damaging 1.00
R7492:Or10al6 UTSW 17 38,082,571 (GRCm39) missense possibly damaging 0.53
R8114:Or10al6 UTSW 17 38,082,880 (GRCm39) missense possibly damaging 0.67
R8172:Or10al6 UTSW 17 38,083,326 (GRCm39) missense probably benign
R8728:Or10al6 UTSW 17 38,082,642 (GRCm39) missense probably damaging 1.00
R8894:Or10al6 UTSW 17 38,082,940 (GRCm39) missense probably damaging 1.00
R9659:Or10al6 UTSW 17 38,082,880 (GRCm39) missense probably damaging 0.99
Z1177:Or10al6 UTSW 17 38,083,082 (GRCm39) missense possibly damaging 0.95
Posted On 2013-10-07