Incidental Mutation 'IGL00839:Ap1s2'
ID 8980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1s2
Ensembl Gene ENSMUSG00000031367
Gene Name adaptor-related protein complex 1, sigma 2 subunit
Synonyms EST1, 1500012A13Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL00839
Quality Score
Status
Chromosome X
Chromosomal Location 162692013-162716662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 162709951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 160 (Y160C)
Ref Sequence ENSEMBL: ENSMUSP00000107913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033734] [ENSMUST00000069041] [ENSMUST00000112294] [ENSMUST00000140845]
AlphaFold Q9DB50
Predicted Effect probably benign
Transcript: ENSMUST00000033734
SMART Domains Protein: ENSMUSP00000033734
Gene: ENSMUSG00000031367

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 141 5.8e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069041
SMART Domains Protein: ENSMUSP00000066185
Gene: ENSMUSG00000031367

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 141 7.6e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112294
AA Change: Y160C

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107913
Gene: ENSMUSG00000031367
AA Change: Y160C

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 141 1.1e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140845
SMART Domains Protein: ENSMUSP00000114902
Gene: ENSMUSG00000031367

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 117 1.4e-50 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Targeted inactivation of the sigma1B isoform results in impaired synaptic vesicle recycling, hypoactivity, impaired balance, deficits in long-term spatial memory, lipodystrophy, and abnormal adipocyte differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,382,873 (GRCm39) S1031T probably benign Het
a T A 2: 154,887,593 (GRCm39) F18I probably benign Het
Acsl4 A T X: 141,122,948 (GRCm39) N421K possibly damaging Het
Ampd1 A G 3: 103,007,010 (GRCm39) E745G possibly damaging Het
Ankrd44 T C 1: 54,706,594 (GRCm39) N436D probably benign Het
Bms1 C T 6: 118,382,252 (GRCm39) V429M probably benign Het
Cep57l1 T C 10: 41,607,089 (GRCm39) E158G probably damaging Het
Cldn34b4 T A X: 75,440,955 (GRCm39) C71S probably damaging Het
Col1a2 C T 6: 4,531,095 (GRCm39) probably benign Het
Crisp3 T G 17: 40,550,147 (GRCm39) probably null Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Defa24 T A 8: 22,224,713 (GRCm39) L54H probably damaging Het
Dennd1a A G 2: 37,706,994 (GRCm39) V504A probably benign Het
Eloa G A 4: 135,738,670 (GRCm39) R97C probably damaging Het
Espl1 T C 15: 102,228,982 (GRCm39) probably benign Het
Fgb T A 3: 82,950,598 (GRCm39) R385S possibly damaging Het
Glod4 T A 11: 76,124,104 (GRCm39) H223L probably benign Het
Hrh1 C T 6: 114,457,283 (GRCm39) T188I probably damaging Het
Hsph1 G T 5: 149,541,919 (GRCm39) A769D possibly damaging Het
Jak2 C T 19: 29,279,047 (GRCm39) P933S probably damaging Het
Lrrd1 T A 5: 3,900,017 (GRCm39) D107E probably benign Het
Osbpl8 T A 10: 111,127,371 (GRCm39) S776R probably benign Het
Pcna C T 2: 132,093,340 (GRCm39) V136I probably benign Het
Pde11a A G 2: 76,045,729 (GRCm39) F365S probably damaging Het
Pi15 A G 1: 17,691,747 (GRCm39) H183R probably damaging Het
Plce1 A G 19: 38,687,006 (GRCm39) Y638C probably damaging Het
Pnpla6 A G 8: 3,592,299 (GRCm39) D1196G probably benign Het
Pramel26 T C 4: 143,539,293 (GRCm39) T67A probably benign Het
Psg22 A G 7: 18,456,893 (GRCm39) I220V probably benign Het
Rap1gap2 A T 11: 74,328,274 (GRCm39) Y97N probably damaging Het
Taf2 A T 15: 54,909,174 (GRCm39) C690* probably null Het
Taf3 A T 2: 9,957,728 (GRCm39) D146E probably damaging Het
Tnrc6c A G 11: 117,605,011 (GRCm39) T49A possibly damaging Het
Trdn T C 10: 33,347,602 (GRCm39) probably null Het
Ttc29 C T 8: 79,060,385 (GRCm39) T435I probably benign Het
Vps37b T C 5: 124,148,814 (GRCm39) T74A possibly damaging Het
Zbtb11 T A 16: 55,820,965 (GRCm39) Y687* probably null Het
Posted On 2012-12-06