Incidental Mutation 'IGL01578:Or13l2'
ID 91338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or13l2
Ensembl Gene ENSMUSG00000051392
Gene Name olfactory receptor family 13 subfamily L member 2
Synonyms MOR217-1, GA_x6K02T2R76Y-3201307-3200360, Olfr1402
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL01578
Quality Score
Status
Chromosome 3
Chromosomal Location 97317533-97318495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97318036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 154 (C154S)
Ref Sequence ENSEMBL: ENSMUSP00000149714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060912] [ENSMUST00000199297]
AlphaFold Q8VET1
Predicted Effect probably damaging
Transcript: ENSMUST00000060912
AA Change: C154S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057416
Gene: ENSMUSG00000051392
AA Change: C154S

DomainStartEndE-ValueType
Pfam:7tm_4 34 309 3.7e-52 PFAM
Pfam:7TM_GPCR_Srsx 38 256 2.3e-6 PFAM
Pfam:7tm_1 44 293 1.1e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199297
AA Change: C154S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 G A 17: 68,165,195 (GRCm39) T516I probably benign Het
Birc6 T C 17: 74,955,192 (GRCm39) C3486R probably benign Het
Camk2g G A 14: 20,797,922 (GRCm39) probably benign Het
Cplane1 A G 15: 8,300,194 (GRCm39) E3167G unknown Het
Dmxl1 T A 18: 50,095,272 (GRCm39) H2950Q probably damaging Het
Eml6 A T 11: 29,800,870 (GRCm39) S379T probably benign Het
Epb41l3 C T 17: 69,555,704 (GRCm39) H13Y probably damaging Het
Fam149a A T 8: 45,803,479 (GRCm39) D337E probably damaging Het
Galnt14 T A 17: 73,842,361 (GRCm39) probably benign Het
Gm6489 G T 1: 31,326,416 (GRCm39) noncoding transcript Het
Hspg2 G A 4: 137,266,494 (GRCm39) R1885H probably damaging Het
Jag1 T A 2: 136,941,971 (GRCm39) probably benign Het
Nalcn A T 14: 123,809,503 (GRCm39) N216K probably benign Het
Ndst1 T C 18: 60,846,198 (GRCm39) Y37C probably damaging Het
Nr2c2 A G 6: 92,139,019 (GRCm39) N486S probably benign Het
Obscn A T 11: 58,890,506 (GRCm39) L7342Q unknown Het
Or56b2 A G 7: 104,338,052 (GRCm39) I277V probably benign Het
Or8k20 C A 2: 86,106,085 (GRCm39) V249F probably damaging Het
Pou4f2 A C 8: 79,162,284 (GRCm39) D106E probably damaging Het
Ppic G A 18: 53,551,001 (GRCm39) P10S unknown Het
Psd2 A G 18: 36,112,838 (GRCm39) T178A probably damaging Het
Ro60 A T 1: 143,637,038 (GRCm39) N391K probably damaging Het
Slc25a34 G T 4: 141,349,821 (GRCm39) probably null Het
Stap2 A G 17: 56,304,623 (GRCm39) S360P probably benign Het
Stx3 T C 19: 11,763,969 (GRCm39) E129G probably damaging Het
Sun3 T A 11: 8,979,436 (GRCm39) E28D probably damaging Het
Tmem126a C T 7: 90,100,750 (GRCm39) probably null Het
Trpc6 A T 9: 8,634,058 (GRCm39) H379L probably damaging Het
Ttf2 A G 3: 100,863,511 (GRCm39) S608P possibly damaging Het
Tubgcp3 T C 8: 12,711,297 (GRCm39) probably benign Het
Other mutations in Or13l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02068:Or13l2 APN 3 97,318,222 (GRCm39) missense possibly damaging 0.91
R2117:Or13l2 UTSW 3 97,317,765 (GRCm39) missense probably damaging 1.00
R6272:Or13l2 UTSW 3 97,318,207 (GRCm39) missense probably benign 0.00
R6969:Or13l2 UTSW 3 97,318,118 (GRCm39) nonsense probably null
R7357:Or13l2 UTSW 3 97,317,971 (GRCm39) missense probably damaging 0.99
R8335:Or13l2 UTSW 3 97,318,024 (GRCm39) missense probably benign 0.02
R8744:Or13l2 UTSW 3 97,317,597 (GRCm39) missense probably benign 0.03
Posted On 2013-12-09