Incidental Mutation 'IGL01137:Or52l1'
ID 51638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52l1
Ensembl Gene ENSMUSG00000047794
Gene Name olfactory receptor family 52 subfamily L member 1
Synonyms MOR37-1, GA_x6K02T2PBJ9-7810071-7809121, Olfr685
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # IGL01137
Quality Score
Status
Chromosome 7
Chromosomal Location 104829568-104830518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104829695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 290 (V290A)
Ref Sequence ENSEMBL: ENSMUSP00000148994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051355] [ENSMUST00000209409] [ENSMUST00000214712] [ENSMUST00000217432]
AlphaFold A0A1L1SVG7
Predicted Effect probably benign
Transcript: ENSMUST00000051355
AA Change: V275A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000061561
Gene: ENSMUSG00000047794
AA Change: V275A

DomainStartEndE-ValueType
Pfam:7tm_4 34 313 3e-107 PFAM
Pfam:7TM_GPCR_Srsx 38 217 2.9e-8 PFAM
Pfam:7tm_1 44 295 7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209409
AA Change: V290A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000214712
AA Change: V290A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000217432
AA Change: V290A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,292,492 (GRCm39) probably null Het
Ankrd11 T C 8: 123,611,075 (GRCm39) T2583A probably damaging Het
Anxa7 G A 14: 20,506,648 (GRCm39) Q431* probably null Het
Asb15 T A 6: 24,556,521 (GRCm39) D5E probably benign Het
Bex1 C A X: 135,115,243 (GRCm39) D29Y probably damaging Het
Cadm2 G A 16: 66,612,238 (GRCm39) T108I probably damaging Het
Cecr2 T G 6: 120,738,989 (GRCm39) L1211V probably damaging Het
Cntn2 T C 1: 132,449,035 (GRCm39) probably benign Het
Ctrc C A 4: 141,566,065 (GRCm39) V198L possibly damaging Het
Cyp2g1 A G 7: 26,513,684 (GRCm39) S208G possibly damaging Het
Ddx46 T A 13: 55,817,530 (GRCm39) Y718* probably null Het
Dlec1 T C 9: 118,966,379 (GRCm39) I1116T probably damaging Het
Dnajc13 A G 9: 104,037,689 (GRCm39) Y2177H probably benign Het
Dpp6 T C 5: 27,919,486 (GRCm39) F661S probably damaging Het
Dpy19l2 G A 9: 24,569,858 (GRCm39) T365I possibly damaging Het
Flot2 T C 11: 77,940,333 (GRCm39) Y27H probably damaging Het
Gsta4 T C 9: 78,113,204 (GRCm39) Y95H possibly damaging Het
Kir3dl1 A G X: 135,427,360 (GRCm39) T192A probably damaging Het
Llgl1 T A 11: 60,600,825 (GRCm39) N640K probably benign Het
Lrch1 C T 14: 74,994,532 (GRCm39) V691M probably damaging Het
Myh9 T C 15: 77,653,742 (GRCm39) D1302G probably benign Het
Myo18a T G 11: 77,718,655 (GRCm39) F935V probably damaging Het
Mypn T C 10: 62,988,633 (GRCm39) E464G probably benign Het
Or5ac25 A C 16: 59,182,335 (GRCm39) M82R probably benign Het
Or5b101 A T 19: 13,005,394 (GRCm39) F100I possibly damaging Het
Or8k38 A T 2: 86,488,055 (GRCm39) I249N possibly damaging Het
R3hdm1 C T 1: 128,109,612 (GRCm39) R39C probably damaging Het
Rps3a3 A T 13: 108,807,666 (GRCm39) probably benign Het
Sec24b C T 3: 129,801,093 (GRCm39) S401N probably benign Het
Slc22a22 C A 15: 57,117,674 (GRCm39) G289V probably damaging Het
Stk33 T C 7: 108,928,775 (GRCm39) I246V probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Timmdc1 A T 16: 38,338,747 (GRCm39) H114Q probably benign Het
Tlcd2 T C 11: 75,360,337 (GRCm39) Y127H probably damaging Het
Tnfrsf11a G A 1: 105,737,147 (GRCm39) D85N possibly damaging Het
Trbc2 T C 6: 41,524,751 (GRCm39) probably benign Het
Unc13b G A 4: 43,091,291 (GRCm39) R39H probably damaging Het
Vwa8 T C 14: 79,341,087 (GRCm39) L1521P probably damaging Het
Zbtb17 T A 4: 141,193,678 (GRCm39) C607* probably null Het
Other mutations in Or52l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Or52l1 APN 7 104,829,929 (GRCm39) missense probably damaging 1.00
IGL02598:Or52l1 APN 7 104,830,163 (GRCm39) missense probably damaging 1.00
R0841:Or52l1 UTSW 7 104,830,061 (GRCm39) missense probably damaging 0.96
R1164:Or52l1 UTSW 7 104,830,040 (GRCm39) missense probably benign 0.02
R1711:Or52l1 UTSW 7 104,829,967 (GRCm39) missense probably damaging 0.99
R1891:Or52l1 UTSW 7 104,829,754 (GRCm39) nonsense probably null
R1901:Or52l1 UTSW 7 104,830,079 (GRCm39) missense possibly damaging 0.88
R1990:Or52l1 UTSW 7 104,830,221 (GRCm39) missense probably damaging 1.00
R3766:Or52l1 UTSW 7 104,830,088 (GRCm39) missense probably damaging 0.98
R4750:Or52l1 UTSW 7 104,830,133 (GRCm39) missense probably damaging 1.00
R5056:Or52l1 UTSW 7 104,829,779 (GRCm39) missense probably damaging 1.00
R5061:Or52l1 UTSW 7 104,829,864 (GRCm39) missense possibly damaging 0.56
R6227:Or52l1 UTSW 7 104,829,917 (GRCm39) missense probably damaging 1.00
R7619:Or52l1 UTSW 7 104,829,956 (GRCm39) missense probably damaging 1.00
R8075:Or52l1 UTSW 7 104,830,343 (GRCm39) missense probably damaging 0.98
R8250:Or52l1 UTSW 7 104,830,518 (GRCm39) missense
R8951:Or52l1 UTSW 7 104,829,638 (GRCm39) missense probably damaging 0.99
R8961:Or52l1 UTSW 7 104,830,376 (GRCm39) missense possibly damaging 0.72
R9214:Or52l1 UTSW 7 104,829,587 (GRCm39) missense probably benign 0.00
R9469:Or52l1 UTSW 7 104,829,967 (GRCm39) missense probably damaging 0.99
R9782:Or52l1 UTSW 7 104,830,067 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21