Incidental Mutation 'IGL03165:Or5al6'
ID 411580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5al6
Ensembl Gene ENSMUSG00000075203
Gene Name olfactory receptor family 5 subfamily AL member 6
Synonyms Olfr1040, MOR185-12, GA_x6K02T2Q125-47615732-47614791
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # IGL03165
Quality Score
Status
Chromosome 2
Chromosomal Location 85976135-85977076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 85976412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 222 (L222R)
Ref Sequence ENSEMBL: ENSMUSP00000097493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099909]
AlphaFold A2ARY1
Predicted Effect possibly damaging
Transcript: ENSMUST00000099909
AA Change: L222R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097493
Gene: ENSMUSG00000075203
AA Change: L222R

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 8.2e-48 PFAM
Pfam:7tm_1 41 290 5.1e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215884
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,133,475 (GRCm39) I334V probably benign Het
Axdnd1 T A 1: 156,205,959 (GRCm39) Y519F probably benign Het
C4b A G 17: 34,958,929 (GRCm39) F500S probably benign Het
Cacng2 A T 15: 77,879,863 (GRCm39) I153N possibly damaging Het
Ces1d T A 8: 93,916,147 (GRCm39) H160L probably benign Het
Cnnm3 T G 1: 36,564,313 (GRCm39) probably benign Het
Ctnna3 A G 10: 64,781,720 (GRCm39) T728A probably damaging Het
Cyp2g1 G A 7: 26,509,201 (GRCm39) V92M possibly damaging Het
Dock2 C A 11: 34,578,360 (GRCm39) V35F probably damaging Het
Eif2a C A 3: 58,456,049 (GRCm39) Y349* probably null Het
Erp44 C T 4: 48,236,872 (GRCm39) probably null Het
Flg2 C T 3: 93,121,918 (GRCm39) H1363Y unknown Het
Flnc G T 6: 29,449,377 (GRCm39) G1425W probably damaging Het
Frem3 A G 8: 81,339,158 (GRCm39) N484D probably benign Het
Fstl3 A G 10: 79,615,799 (GRCm39) D95G probably benign Het
Gldc A G 19: 30,076,393 (GRCm39) S1018P possibly damaging Het
Gstk1 T G 6: 42,226,368 (GRCm39) I159S probably benign Het
Herc2 A G 7: 55,841,660 (GRCm39) E3513G probably damaging Het
Hpca A T 4: 129,012,383 (GRCm39) I51N probably damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Igkv4-74 T C 6: 69,162,289 (GRCm39) probably benign Het
Kdm7a C A 6: 39,147,848 (GRCm39) probably benign Het
Or1e23 A T 11: 73,407,710 (GRCm39) L105* probably null Het
Or52z14 T C 7: 103,253,218 (GRCm39) I119T probably damaging Het
Pa2g4 A T 10: 128,394,929 (GRCm39) probably null Het
Pdlim3 T A 8: 46,372,035 (GRCm39) L360Q possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polk T A 13: 96,653,196 (GRCm39) Q68L probably benign Het
Ppfia2 T G 10: 106,603,348 (GRCm39) L195R probably damaging Het
Ranbp1 A T 16: 18,065,145 (GRCm39) probably benign Het
Rbm12b1 A G 4: 12,145,845 (GRCm39) R606G possibly damaging Het
Ryr1 A G 7: 28,804,465 (GRCm39) V488A probably benign Het
Sall2 A T 14: 52,551,625 (GRCm39) D521E probably damaging Het
Sntg1 A T 1: 8,515,328 (GRCm39) C402S probably damaging Het
Spg7 T C 8: 123,807,551 (GRCm39) probably null Het
Stk31 G A 6: 49,422,198 (GRCm39) E750K probably damaging Het
Tlr2 A G 3: 83,745,255 (GRCm39) I276T probably benign Het
Trav12-2 A T 14: 53,854,206 (GRCm39) H60L probably benign Het
Urb1 A G 16: 90,577,192 (GRCm39) L775S probably damaging Het
Utp14b A G 1: 78,642,237 (GRCm39) D45G probably damaging Het
Other mutations in Or5al6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Or5al6 APN 2 85,976,955 (GRCm39) missense probably benign 0.22
IGL01106:Or5al6 APN 2 85,976,560 (GRCm39) missense probably benign 0.09
IGL02193:Or5al6 APN 2 85,977,059 (GRCm39) missense probably benign 0.00
IGL02730:Or5al6 APN 2 85,976,443 (GRCm39) missense probably benign 0.05
IGL03032:Or5al6 APN 2 85,977,043 (GRCm39) missense probably damaging 1.00
R0388:Or5al6 UTSW 2 85,976,974 (GRCm39) missense probably damaging 1.00
R2971:Or5al6 UTSW 2 85,976,908 (GRCm39) missense probably damaging 0.96
R4168:Or5al6 UTSW 2 85,976,523 (GRCm39) missense probably benign 0.03
R4532:Or5al6 UTSW 2 85,976,274 (GRCm39) missense possibly damaging 0.77
R5024:Or5al6 UTSW 2 85,976,877 (GRCm39) missense probably damaging 1.00
R5175:Or5al6 UTSW 2 85,976,301 (GRCm39) missense probably damaging 1.00
R5574:Or5al6 UTSW 2 85,976,535 (GRCm39) missense probably damaging 1.00
R6033:Or5al6 UTSW 2 85,976,613 (GRCm39) missense probably damaging 0.97
R6033:Or5al6 UTSW 2 85,976,613 (GRCm39) missense probably damaging 0.97
R6137:Or5al6 UTSW 2 85,976,313 (GRCm39) missense probably benign
R6945:Or5al6 UTSW 2 85,976,428 (GRCm39) missense probably damaging 1.00
R6980:Or5al6 UTSW 2 85,976,681 (GRCm39) nonsense probably null
R7065:Or5al6 UTSW 2 85,976,345 (GRCm39) missense probably damaging 1.00
R8264:Or5al6 UTSW 2 85,976,538 (GRCm39) missense probably damaging 1.00
R9039:Or5al6 UTSW 2 85,976,625 (GRCm39) missense probably damaging 1.00
R9224:Or5al6 UTSW 2 85,976,220 (GRCm39) missense probably damaging 1.00
R9745:Or5al6 UTSW 2 85,976,251 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02