Incidental Mutation 'IGL02193:Or5al6'
ID 283958
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: 0.210) question?
Stock # IGL02193
Quality Score
Status
Chromosome 2
Chromosomal Location 85976135-85977076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85977059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 6 (N6K)
Ref Sequence ENSEMBL: ENSMUSP00000097493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099909]
AlphaFold A2ARY1
Predicted Effect probably benign
Transcript: ENSMUST00000099909
AA Change: N6K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000097493
Gene: ENSMUSG00000075203
AA Change: N6K

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
Agl A G 3: 116,572,815 (GRCm39) L812P probably damaging Het
Ankmy1 A T 1: 92,808,767 (GRCm39) F714I probably benign Het
Armh3 G T 19: 45,961,323 (GRCm39) T118K probably benign Het
Celf5 A G 10: 81,306,507 (GRCm39) I52T probably damaging Het
Clstn1 T C 4: 149,729,809 (GRCm39) V771A probably benign Het
Enpep G T 3: 129,075,336 (GRCm39) L661I possibly damaging Het
Faxc A G 4: 21,993,486 (GRCm39) N377D possibly damaging Het
Gabrb3 A G 7: 57,442,264 (GRCm39) E190G probably damaging Het
Gm4787 C T 12: 81,425,302 (GRCm39) M285I probably benign Het
Gm5900 A C 7: 104,599,231 (GRCm39) noncoding transcript Het
Gm6133 A G 18: 78,393,308 (GRCm39) N101D probably benign Het
Gtse1 A G 15: 85,746,531 (GRCm39) K116E probably benign Het
H2-D1 T G 17: 35,484,785 (GRCm39) H215Q possibly damaging Het
Hdc A T 2: 126,443,700 (GRCm39) probably benign Het
Hnrnph3 T C 10: 62,853,056 (GRCm39) H195R probably damaging Het
Ipo8 T C 6: 148,678,782 (GRCm39) T939A probably damaging Het
Irag1 A T 7: 110,498,162 (GRCm39) L411Q probably damaging Het
Krt79 G T 15: 101,848,340 (GRCm39) P104T possibly damaging Het
Lama4 A T 10: 38,918,670 (GRCm39) M384L probably benign Het
Lamb2 T G 9: 108,366,559 (GRCm39) D1590E probably benign Het
Ly6i A T 15: 74,854,879 (GRCm39) C10* probably null Het
Mamdc4 G A 2: 25,454,458 (GRCm39) A1082V probably benign Het
Nlrp4a T A 7: 26,159,117 (GRCm39) L799H probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Or2y13 C T 11: 49,414,571 (GRCm39) T7I possibly damaging Het
Or6b1 T C 6: 42,815,753 (GRCm39) probably benign Het
Otud6b T C 4: 14,812,543 (GRCm39) H268R probably damaging Het
Peg3 T C 7: 6,714,927 (GRCm39) E138G probably damaging Het
Phactr1 T C 13: 42,863,176 (GRCm39) probably benign Het
Psmf1 A G 2: 151,562,733 (GRCm39) probably benign Het
Rab32 T C 10: 10,422,199 (GRCm39) probably benign Het
Rfwd3 C T 8: 111,999,647 (GRCm39) probably benign Het
Scart2 A G 7: 139,828,913 (GRCm39) T191A probably benign Het
Slc25a3 A G 10: 90,953,977 (GRCm39) V245A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Thoc1 A G 18: 9,992,863 (GRCm39) D545G probably benign Het
Tpst1 T A 5: 130,130,737 (GRCm39) M69K possibly damaging Het
Trank1 T C 9: 111,196,344 (GRCm39) V1456A probably benign Het
Trappc6a T A 7: 19,249,144 (GRCm39) C124S possibly damaging Het
Tsc22d2 T A 3: 58,367,628 (GRCm39) probably benign 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
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
IGL03165:Or5al6 APN 2 85,976,412 (GRCm39) missense possibly damaging 0.91
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 2015-04-16