Incidental Mutation 'R4843:Ap2s1'
ID 371987
Institutional Source Beutler Lab
Gene Symbol Ap2s1
Ensembl Gene ENSMUSG00000008036
Gene Name adaptor-related protein complex 2, sigma 1 subunit
Synonyms
MMRRC Submission 042456-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R4843 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 16472369-16483215 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 16477271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 44 (A44D)
Ref Sequence ENSEMBL: ENSMUSP00000146095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086112] [ENSMUST00000205590] [ENSMUST00000205607]
AlphaFold P62743
Predicted Effect possibly damaging
Transcript: ENSMUST00000086112
AA Change: A44D

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083281
Gene: ENSMUSG00000008036
AA Change: A44D

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 142 2.9e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141496
Predicted Effect possibly damaging
Transcript: ENSMUST00000205590
AA Change: A44D

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000205607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205673
Meta Mutation Damage Score 0.1223 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 95% (58/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 T A 12: 30,946,144 (GRCm39) K124* probably null Het
Actl11 G T 9: 107,806,691 (GRCm39) C338F possibly damaging Het
Adam5 G A 8: 25,303,552 (GRCm39) S125F probably damaging Het
AW554918 T C 18: 25,473,057 (GRCm39) V84A probably benign Het
Bsn G A 9: 107,984,388 (GRCm39) T3222M unknown Het
Car15 A G 16: 17,654,472 (GRCm39) Y155H possibly damaging Het
Cdca2 G T 14: 67,914,425 (GRCm39) P945T probably damaging Het
Cdh16 A G 8: 105,348,172 (GRCm39) F182L probably damaging Het
Cers6 G A 2: 68,899,003 (GRCm39) A214T probably benign Het
Ces1g A T 8: 94,057,893 (GRCm39) M136K probably damaging Het
Cnppd1 A G 1: 75,113,086 (GRCm39) V394A probably benign Het
Cyp3a59 A T 5: 146,033,071 (GRCm39) I148F possibly damaging Het
Dnah1 G A 14: 30,986,920 (GRCm39) A3624V probably damaging Het
Exoc3l4 T C 12: 111,394,487 (GRCm39) probably benign Het
Fap G T 2: 62,374,718 (GRCm39) P227Q probably damaging Het
Fbxw10 G A 11: 62,738,151 (GRCm39) R15H possibly damaging Het
Gm11011 T C 2: 169,429,240 (GRCm39) probably benign Het
Gm11146 A C 16: 77,392,144 (GRCm39) probably benign Het
Grip1 G A 10: 119,765,920 (GRCm39) R84Q probably damaging Het
Hipk2 A G 6: 38,796,192 (GRCm39) C19R possibly damaging Het
Hmgcll1 A G 9: 75,979,916 (GRCm39) D102G possibly damaging Het
Ighv16-1 A T 12: 114,032,504 (GRCm39) Y99* probably null Het
Kank1 T G 19: 25,408,371 (GRCm39) S1283R probably damaging Het
Kcnip1 T A 11: 33,594,504 (GRCm39) H95L probably benign Het
L3mbtl3 A T 10: 26,207,777 (GRCm39) L314Q unknown Het
Marveld3 C A 8: 110,688,702 (GRCm39) R13L possibly damaging Het
Mtrf1l G T 10: 5,773,696 (GRCm39) P23Q possibly damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or5p69 G A 7: 107,967,350 (GRCm39) A218T probably benign Het
Or6c1b G T 10: 129,273,316 (GRCm39) V212L probably benign Het
Paqr7 A G 4: 134,234,278 (GRCm39) Y45C probably damaging Het
Plod3 G A 5: 137,019,854 (GRCm39) W428* probably null Het
Pnisr T A 4: 21,857,400 (GRCm39) probably benign Het
Ppip5k1 C A 2: 121,157,368 (GRCm39) R1046L probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Prmt5 A T 14: 54,753,582 (GRCm39) I99N probably benign Het
Ripk2 T C 4: 16,155,073 (GRCm39) T149A probably damaging Het
Rpf2 C A 10: 40,122,998 (GRCm39) probably benign Het
Rtf1 T A 2: 119,536,017 (GRCm39) D190E possibly damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Snd1 T G 6: 28,668,642 (GRCm39) V443G probably damaging Het
Spag9 T C 11: 93,988,644 (GRCm39) F555L probably damaging Het
Srfbp1 A G 18: 52,621,749 (GRCm39) K270R probably benign Het
Tenm2 T A 11: 35,914,847 (GRCm39) N2230I probably damaging Het
Tmem106a T C 11: 101,477,021 (GRCm39) probably benign Het
Tpsg1 A T 17: 25,589,591 (GRCm39) probably benign Het
Trank1 A G 9: 111,195,146 (GRCm39) S1057G probably benign Het
Unc13d G A 11: 115,965,085 (GRCm39) T220M probably damaging Het
Vmn1r68 T C 7: 10,261,904 (GRCm39) T65A probably benign Het
Vps50 T C 6: 3,536,974 (GRCm39) probably null Het
Washc5 A G 15: 59,222,220 (GRCm39) I85T possibly damaging Het
Zfp677 C T 17: 21,612,788 (GRCm39) T2I probably benign Het
Zxdc A G 6: 90,359,254 (GRCm39) T629A probably damaging Het
Other mutations in Ap2s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0277:Ap2s1 UTSW 7 16,481,305 (GRCm39) splice site probably benign
R0416:Ap2s1 UTSW 7 16,481,290 (GRCm39) missense probably damaging 1.00
R2286:Ap2s1 UTSW 7 16,482,901 (GRCm39) missense possibly damaging 0.61
R5135:Ap2s1 UTSW 7 16,481,248 (GRCm39) missense probably damaging 1.00
R6828:Ap2s1 UTSW 7 16,482,626 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATAGAATGTCTCGTGGTGCC -3'
(R):5'- AGTGTGTCCAAAGGCCTTAGG -3'

Sequencing Primer
(F):5'- CCACCCTGAGCTGTGTCC -3'
(R):5'- CCTGCAGATCTTGGTTGAAAGTCAC -3'
Posted On 2016-03-01