Incidental Mutation 'IGL02352:Or2l13'
ID 289508
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2l13
Ensembl Gene ENSMUSG00000056822
Gene Name olfactory receptor family 2 subfamily L member 13
Synonyms MOR270-1, GA_x54KRFPKG5P-15934912-15935850, Olfr166
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02352
Quality Score
Status
Chromosome 16
Chromosomal Location 19305590-19306528 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19305927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 113 (L113P)
Ref Sequence ENSEMBL: ENSMUSP00000150764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074739] [ENSMUST00000213531] [ENSMUST00000216465]
AlphaFold Q8VGX2
Predicted Effect probably damaging
Transcript: ENSMUST00000074739
AA Change: L113P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074299
Gene: ENSMUSG00000056822
AA Change: L113P

DomainStartEndE-ValueType
low complexity region 12 29 N/A INTRINSIC
Pfam:7tm_4 30 306 4e-50 PFAM
Pfam:7TM_GPCR_Srsx 33 295 3.6e-7 PFAM
Pfam:7tm_1 40 289 2.1e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213531
AA Change: L113P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216465
AA Change: L113P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,941,829 (GRCm39) probably null Het
Abca5 T A 11: 110,166,156 (GRCm39) N1540I probably benign Het
Adamtsl5 T A 10: 80,179,562 (GRCm39) probably null Het
Aldh2 T C 5: 121,713,960 (GRCm39) E128G probably null Het
Anln A G 9: 22,279,708 (GRCm39) V494A probably benign Het
Ano3 A T 2: 110,715,288 (GRCm39) L50* probably null Het
Atp13a3 A G 16: 30,169,902 (GRCm39) I392T probably damaging Het
C1qtnf5 A G 9: 44,019,631 (GRCm39) E85G possibly damaging Het
Cacna1s A T 1: 136,020,990 (GRCm39) probably benign Het
Ccdc150 G A 1: 54,311,680 (GRCm39) R222H probably benign Het
Cdk5rap3 A T 11: 96,807,003 (GRCm39) I9N probably damaging Het
Cmip A T 8: 118,137,994 (GRCm39) probably benign Het
Cyp21a1 A G 17: 35,023,196 (GRCm39) Y60H probably damaging Het
Cyp2d11 A G 15: 82,278,121 (GRCm39) W10R possibly damaging Het
Dock10 A G 1: 80,483,378 (GRCm39) Y2076H probably damaging Het
Dpcd G T 19: 45,565,493 (GRCm39) A156S probably benign Het
Egflam T C 15: 7,263,706 (GRCm39) N748S probably benign Het
Fam227b A G 2: 125,988,174 (GRCm39) probably benign Het
Fancd2 T A 6: 113,540,073 (GRCm39) I654N probably damaging Het
Hpf1 A G 8: 61,349,836 (GRCm39) I155V probably benign Het
Hrh1 C A 6: 114,457,404 (GRCm39) N228K probably benign Het
Igkv3-2 T C 6: 70,675,474 (GRCm39) L8P probably damaging Het
Iqgap3 T C 3: 88,009,267 (GRCm39) F734L probably benign Het
Kif5a T C 10: 127,079,370 (GRCm39) Y276C probably damaging Het
Lax1 A T 1: 133,608,208 (GRCm39) S178T possibly damaging Het
Marchf6 C T 15: 31,509,905 (GRCm39) C28Y probably damaging Het
Mylk3 T C 8: 86,081,931 (GRCm39) T356A probably benign Het
Obscn T C 11: 58,891,853 (GRCm39) E6893G probably benign Het
Pate7 A T 9: 35,689,180 (GRCm39) M1K probably null Het
Pgap2 G T 7: 101,885,346 (GRCm39) V71F probably damaging Het
Prob1 T G 18: 35,785,893 (GRCm39) E787A possibly damaging Het
Psmd2 C A 16: 20,475,691 (GRCm39) D430E probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Serpinb9e A T 13: 33,441,803 (GRCm39) probably benign Het
Sgsm2 G T 11: 74,782,900 (GRCm39) probably benign Het
Slc38a9 A G 13: 112,826,720 (GRCm39) I153V probably benign Het
Slco1b2 T A 6: 141,631,251 (GRCm39) D628E probably damaging Het
Sult2a5 T C 7: 13,362,727 (GRCm39) S145P probably benign Het
Sv2b T C 7: 74,786,197 (GRCm39) T408A probably benign Het
Usp24 T C 4: 106,261,122 (GRCm39) C1626R probably damaging Het
Wdr43 C T 17: 71,939,043 (GRCm39) T217M possibly damaging Het
Wdr95 G A 5: 149,504,084 (GRCm39) V155M probably damaging Het
Wsb1 G A 11: 79,141,838 (GRCm39) L60F probably damaging Het
Wwp2 C T 8: 108,267,278 (GRCm39) R297* probably null Het
Xkr6 T C 14: 64,057,156 (GRCm39) Y356H unknown Het
Other mutations in Or2l13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01559:Or2l13 APN 16 19,306,209 (GRCm39) missense probably benign 0.13
IGL01639:Or2l13 APN 16 19,305,914 (GRCm39) missense probably damaging 0.97
IGL02105:Or2l13 APN 16 19,306,011 (GRCm39) missense probably benign 0.15
IGL02359:Or2l13 APN 16 19,305,927 (GRCm39) missense probably damaging 1.00
IGL03053:Or2l13 APN 16 19,305,969 (GRCm39) missense probably benign 0.36
IGL03168:Or2l13 APN 16 19,305,969 (GRCm39) missense probably benign 0.36
R0576:Or2l13 UTSW 16 19,305,938 (GRCm39) missense probably damaging 1.00
R0920:Or2l13 UTSW 16 19,305,680 (GRCm39) missense probably benign 0.00
R1335:Or2l13 UTSW 16 19,305,803 (GRCm39) missense probably benign 0.01
R1468:Or2l13 UTSW 16 19,306,378 (GRCm39) missense probably benign 0.15
R1468:Or2l13 UTSW 16 19,306,378 (GRCm39) missense probably benign 0.15
R1490:Or2l13 UTSW 16 19,305,672 (GRCm39) missense probably benign
R2095:Or2l13 UTSW 16 19,305,681 (GRCm39) missense probably benign
R3123:Or2l13 UTSW 16 19,305,765 (GRCm39) missense probably damaging 1.00
R4893:Or2l13 UTSW 16 19,305,653 (GRCm39) missense probably benign
R5093:Or2l13 UTSW 16 19,306,227 (GRCm39) missense probably damaging 1.00
R5222:Or2l13 UTSW 16 19,305,680 (GRCm39) missense probably benign
R7149:Or2l13 UTSW 16 19,306,260 (GRCm39) missense probably damaging 1.00
R7305:Or2l13 UTSW 16 19,306,449 (GRCm39) missense probably damaging 0.98
R7484:Or2l13 UTSW 16 19,305,753 (GRCm39) missense possibly damaging 0.82
R9394:Or2l13 UTSW 16 19,306,421 (GRCm39) missense possibly damaging 0.66
R9640:Or2l13 UTSW 16 19,305,761 (GRCm39) missense probably damaging 1.00
R9749:Or2l13 UTSW 16 19,306,113 (GRCm39) missense possibly damaging 0.95
X0020:Or2l13 UTSW 16 19,305,840 (GRCm39) missense probably benign 0.22
Z1088:Or2l13 UTSW 16 19,305,798 (GRCm39) missense possibly damaging 0.52
Posted On 2015-04-16