Incidental Mutation 'IGL02068:Or13l2'
ID 185720
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 # IGL02068
Quality Score
Status
Chromosome 3
Chromosomal Location 97317533-97318495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97318222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 92 (K92E)
Ref Sequence ENSEMBL: ENSMUSP00000149714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060912] [ENSMUST00000199297]
AlphaFold Q8VET1
Predicted Effect possibly damaging
Transcript: ENSMUST00000060912
AA Change: K92E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057416
Gene: ENSMUSG00000051392
AA Change: K92E

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 possibly damaging
Transcript: ENSMUST00000199297
AA Change: K92E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,814,558 (GRCm39) I140F probably benign Het
Cfap58 T C 19: 47,974,951 (GRCm39) L704P probably damaging Het
Cnnm2 T C 19: 46,865,827 (GRCm39) V805A possibly damaging Het
Dnah9 T C 11: 65,951,871 (GRCm39) E1876G probably damaging Het
Dock1 A T 7: 134,373,277 (GRCm39) E548V probably benign Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Esm1 T G 13: 113,346,630 (GRCm39) F85C probably damaging Het
Fcer1a C T 1: 173,053,071 (GRCm39) G42R probably damaging Het
Fcer1g A T 1: 171,058,760 (GRCm39) Y43N probably damaging Het
Grik1 G T 16: 87,737,539 (GRCm39) T585K possibly damaging Het
Hnf4g T C 3: 3,709,636 (GRCm39) I184T probably benign Het
Hsd11b1 G A 1: 192,904,354 (GRCm39) R282* probably null Het
Lig1 T A 7: 13,026,377 (GRCm39) probably benign Het
Phip A G 9: 82,827,861 (GRCm39) S184P probably damaging Het
Pkhd1 C T 1: 20,592,971 (GRCm39) G1714D probably damaging Het
Plppr4 A G 3: 117,125,433 (GRCm39) probably benign Het
Prdm10 G A 9: 31,248,646 (GRCm39) R356Q probably damaging Het
Rasgrp1 C T 2: 117,131,059 (GRCm39) probably benign Het
Rpap1 C T 2: 119,613,135 (GRCm39) E138K probably benign Het
Sidt2 A C 9: 45,856,962 (GRCm39) probably null Het
Slc28a3 A G 13: 58,706,411 (GRCm39) L610P probably damaging Het
Slc39a10 T C 1: 46,858,599 (GRCm39) probably benign Het
Snx18 G A 13: 113,753,601 (GRCm39) A444V probably damaging Het
Svil A G 18: 5,092,899 (GRCm39) E1459G probably damaging Het
Tbc1d9 T C 8: 83,966,497 (GRCm39) L366P probably damaging Het
Tbk1 A T 10: 121,406,694 (GRCm39) H181Q probably damaging Het
Wrn C A 8: 33,800,777 (GRCm39) G612V probably benign Het
Xdh A G 17: 74,220,945 (GRCm39) Y595H probably damaging Het
Other mutations in Or13l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01578:Or13l2 APN 3 97,318,036 (GRCm39) missense probably damaging 0.99
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 2014-05-07