Incidental Mutation 'IGL03152:Or5al1'
ID 411120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5al1
Ensembl Gene ENSMUSG00000075202
Gene Name olfactory receptor family 5 subfamily AL member 1
Synonyms Olfr1042, MOR185-10, GA_x6K02T2Q125-47629317-47628376
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL03152
Quality Score
Status
Chromosome 2
Chromosomal Location 85989689-85990785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85990030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 228 (I228N)
Ref Sequence ENSEMBL: ENSMUSP00000151053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099907] [ENSMUST00000099908] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215624] [ENSMUST00000216028]
AlphaFold Q7TR81
Predicted Effect probably benign
Transcript: ENSMUST00000099907
SMART Domains Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 6.9e-46 PFAM
Pfam:7tm_1 41 290 1.5e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099908
AA Change: I228N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202
AA Change: I228N

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.2e-48 PFAM
Pfam:7tm_1 41 290 1.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213886
Predicted Effect probably benign
Transcript: ENSMUST00000213949
Predicted Effect possibly damaging
Transcript: ENSMUST00000215624
AA Change: I228N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000216028
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d1 T A 5: 16,527,566 (GRCm39) N540K probably benign Het
Caln1 A G 5: 130,646,693 (GRCm39) E43G probably damaging Het
Car14 A C 3: 95,806,157 (GRCm39) C301W probably damaging Het
Clpx G A 9: 65,217,458 (GRCm39) V9I possibly damaging Het
Edar A G 10: 58,445,817 (GRCm39) F249S possibly damaging Het
Fads2b A G 2: 85,330,648 (GRCm39) S220P probably damaging Het
Fhip2a C A 19: 57,367,264 (GRCm39) T269K probably damaging Het
Gm4799 A G 10: 82,790,797 (GRCm39) noncoding transcript Het
Grk4 T C 5: 34,902,701 (GRCm39) S418P probably damaging Het
Kcnh4 A G 11: 100,636,598 (GRCm39) S774P probably benign Het
Kif23 A G 9: 61,837,058 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Myef2l A T 3: 10,153,334 (GRCm39) K34N probably benign Het
Pcgf6 A T 19: 47,037,344 (GRCm39) probably benign Het
Ryr2 G A 13: 11,868,036 (GRCm39) R265C probably damaging Het
Smgc A G 15: 91,725,625 (GRCm39) K2R possibly damaging Het
Stx5a T C 19: 8,727,138 (GRCm39) probably null Het
Syne2 A T 12: 76,012,486 (GRCm39) N2560I probably benign Het
Tuba3a A T 6: 125,258,300 (GRCm39) L230Q probably damaging Het
Tubb4b-ps1 A G 5: 7,230,001 (GRCm39) probably benign Het
Zfp217 A G 2: 169,960,972 (GRCm39) S452P probably damaging Het
Zfp764l1 A G 7: 126,991,469 (GRCm39) C173R probably damaging Het
Zzef1 G A 11: 72,814,008 (GRCm39) probably null Het
Other mutations in Or5al1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01914:Or5al1 APN 2 85,990,391 (GRCm39) missense probably benign 0.04
IGL02071:Or5al1 APN 2 85,990,219 (GRCm39) missense probably benign
IGL02935:Or5al1 APN 2 85,990,714 (GRCm39) unclassified probably benign
R0089:Or5al1 UTSW 2 85,989,918 (GRCm39) missense possibly damaging 0.89
R1419:Or5al1 UTSW 2 85,989,773 (GRCm39) makesense probably null
R1699:Or5al1 UTSW 2 85,990,280 (GRCm39) missense probably benign
R1804:Or5al1 UTSW 2 85,990,417 (GRCm39) missense probably benign 0.38
R3162:Or5al1 UTSW 2 85,990,439 (GRCm39) missense probably benign 0.03
R3162:Or5al1 UTSW 2 85,990,439 (GRCm39) missense probably benign 0.03
R3609:Or5al1 UTSW 2 85,989,976 (GRCm39) missense probably benign 0.00
R3953:Or5al1 UTSW 2 85,990,282 (GRCm39) missense probably benign 0.02
R3955:Or5al1 UTSW 2 85,990,282 (GRCm39) missense probably benign 0.02
R3956:Or5al1 UTSW 2 85,990,282 (GRCm39) missense probably benign 0.02
R3957:Or5al1 UTSW 2 85,990,282 (GRCm39) missense probably benign 0.02
R4771:Or5al1 UTSW 2 85,990,417 (GRCm39) missense probably benign 0.38
R5685:Or5al1 UTSW 2 85,990,139 (GRCm39) missense probably damaging 0.99
R6241:Or5al1 UTSW 2 85,990,380 (GRCm39) missense probably damaging 1.00
R6324:Or5al1 UTSW 2 85,989,800 (GRCm39) missense probably benign
R6678:Or5al1 UTSW 2 85,990,529 (GRCm39) missense probably damaging 0.98
R6921:Or5al1 UTSW 2 85,990,196 (GRCm39) missense probably benign 0.02
R7215:Or5al1 UTSW 2 85,989,800 (GRCm39) missense probably benign
R7386:Or5al1 UTSW 2 85,989,874 (GRCm39) missense possibly damaging 0.83
R8030:Or5al1 UTSW 2 85,990,586 (GRCm39) missense probably benign
R9694:Or5al1 UTSW 2 85,990,681 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02