Incidental Mutation 'IGL02633:Ap1g2'
ID 301409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1g2
Ensembl Gene ENSMUSG00000040701
Gene Name adaptor protein complex AP-1, gamma 2 subunit
Synonyms gamma 2-adaptin, Adtg2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # IGL02633
Quality Score
Status
Chromosome 14
Chromosomal Location 55336292-55344050 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 55338104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036041] [ENSMUST00000050575] [ENSMUST00000127870] [ENSMUST00000131323] [ENSMUST00000170285] [ENSMUST00000151314] [ENSMUST00000185121] [ENSMUST00000183822]
AlphaFold O88512
Predicted Effect probably null
Transcript: ENSMUST00000036041
SMART Domains Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 575 2.7e-149 PFAM
low complexity region 624 631 N/A INTRINSIC
Alpha_adaptinC2 668 786 5.73e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000050575
SMART Domains Protein: ENSMUSP00000056026
Gene: ENSMUSG00000045691

DomainStartEndE-ValueType
CYTH 5 200 1.29e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127870
SMART Domains Protein: ENSMUSP00000116698
Gene: ENSMUSG00000040701

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 197 5.7e-57 PFAM
low complexity region 222 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131323
SMART Domains Protein: ENSMUSP00000115441
Gene: ENSMUSG00000040701

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 197 5.7e-57 PFAM
low complexity region 222 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137548
Predicted Effect probably null
Transcript: ENSMUST00000170285
SMART Domains Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 575 1.5e-149 PFAM
low complexity region 624 631 N/A INTRINSIC
Alpha_adaptinC2 668 786 5.73e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151314
SMART Domains Protein: ENSMUSP00000122796
Gene: ENSMUSG00000040701

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 197 5.7e-57 PFAM
low complexity region 222 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183822
SMART Domains Protein: ENSMUSP00000140371
Gene: ENSMUSG00000045691

DomainStartEndE-ValueType
PDB:2JMU|A 5 64 3e-23 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the gamma-2 subunit of the adaptor protein complex 1 (AP-1). AP-1 complex is a heterotetramer comprised of two heavy and one each of medium and small subunits. The encoded protein is a heavy subunit of AP-1 complex that regulates polarized sorting of cargo at the trans-Golgi network and endosomes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram T C 4: 56,806,131 (GRCm39) V181A possibly damaging Het
Aff4 T C 11: 53,300,198 (GRCm39) probably benign Het
Aspn A T 13: 49,705,363 (GRCm39) Y75F possibly damaging Het
Atm G A 9: 53,359,453 (GRCm39) T2783I probably damaging Het
Cacnb1 A T 11: 97,913,199 (GRCm39) I18N probably damaging Het
Casr T C 16: 36,336,017 (GRCm39) I97M probably damaging Het
Cnga2 T A X: 71,048,655 (GRCm39) probably benign Het
Coasy T A 11: 100,976,147 (GRCm39) L425Q probably damaging Het
Cps1 A G 1: 67,162,396 (GRCm39) T25A probably benign Het
Dnah1 T C 14: 31,006,772 (GRCm39) Y2181C probably benign Het
Efna3 A C 3: 89,222,749 (GRCm39) S230A probably damaging Het
Eng A G 2: 32,563,286 (GRCm39) I281V probably damaging Het
Erlec1 T A 11: 30,898,430 (GRCm39) R14* probably null Het
Gbp9 C T 5: 105,231,431 (GRCm39) probably benign Het
Gzmg T C 14: 56,394,160 (GRCm39) M245V probably damaging Het
Kdm5a A G 6: 120,341,680 (GRCm39) I36V probably damaging Het
Krt87 A G 15: 101,389,095 (GRCm39) V79A probably damaging Het
Limd1 A T 9: 123,308,987 (GRCm39) probably benign Het
Lmo4 T C 3: 143,899,683 (GRCm39) S155G probably benign Het
Mrpl44 G A 1: 79,753,862 (GRCm39) V5I probably benign Het
Mrpl49 T C 19: 6,104,931 (GRCm39) T146A possibly damaging Het
Mrpl58 T C 11: 115,301,457 (GRCm39) probably benign Het
Nab1 C T 1: 52,529,292 (GRCm39) V202M probably damaging Het
Nav3 T A 10: 109,527,997 (GRCm39) M2229L probably benign Het
Notch2 C T 3: 98,024,013 (GRCm39) probably benign Het
Nub1 A G 5: 24,897,931 (GRCm39) I106V probably benign Het
Prom1 A T 5: 44,172,117 (GRCm39) S595T probably benign Het
Rbfox1 T A 16: 7,110,078 (GRCm39) S165R probably damaging Het
Sipa1l2 G A 8: 126,174,507 (GRCm39) T1257I probably damaging Het
Smarcc2 T C 10: 128,305,556 (GRCm39) S327P probably damaging Het
Tdpoz1 T C 3: 93,578,056 (GRCm39) M243V probably benign Het
Ttn G T 2: 76,549,289 (GRCm39) T23469K probably damaging Het
Ube2u T C 4: 100,339,971 (GRCm39) probably benign Het
Umodl1 T C 17: 31,208,462 (GRCm39) Y836H probably damaging Het
Vmn2r45 A G 7: 8,488,728 (GRCm39) Y101H probably benign Het
Vps13a T A 19: 16,697,772 (GRCm39) Q781L possibly damaging Het
Vwce G A 19: 10,625,858 (GRCm39) V457M probably damaging Het
Other mutations in Ap1g2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Ap1g2 APN 14 55,342,571 (GRCm39) missense probably benign 0.01
IGL02421:Ap1g2 APN 14 55,339,859 (GRCm39) missense probably damaging 1.00
IGL02967:Ap1g2 APN 14 55,342,479 (GRCm39) splice site probably benign
IGL03030:Ap1g2 APN 14 55,343,504 (GRCm39) missense probably damaging 1.00
IGL03087:Ap1g2 APN 14 55,340,493 (GRCm39) missense probably damaging 0.99
IGL03261:Ap1g2 APN 14 55,337,987 (GRCm39) missense probably benign 0.00
IGL03308:Ap1g2 APN 14 55,342,333 (GRCm39) missense probably benign 0.44
R0284:Ap1g2 UTSW 14 55,339,149 (GRCm39) splice site probably benign
R0614:Ap1g2 UTSW 14 55,337,230 (GRCm39) missense probably benign 0.00
R0762:Ap1g2 UTSW 14 55,337,868 (GRCm39) splice site probably benign
R1561:Ap1g2 UTSW 14 55,342,344 (GRCm39) missense probably damaging 1.00
R1889:Ap1g2 UTSW 14 55,338,886 (GRCm39) missense probably damaging 1.00
R1938:Ap1g2 UTSW 14 55,337,229 (GRCm39) missense possibly damaging 0.80
R1997:Ap1g2 UTSW 14 55,339,835 (GRCm39) missense probably benign 0.00
R2169:Ap1g2 UTSW 14 55,336,797 (GRCm39) critical splice acceptor site probably null
R3157:Ap1g2 UTSW 14 55,336,731 (GRCm39) missense probably damaging 0.96
R3820:Ap1g2 UTSW 14 55,338,030 (GRCm39) splice site probably benign
R3850:Ap1g2 UTSW 14 55,342,363 (GRCm39) missense probably benign 0.03
R4750:Ap1g2 UTSW 14 55,341,822 (GRCm39) missense probably damaging 1.00
R4909:Ap1g2 UTSW 14 55,342,483 (GRCm39) critical splice donor site probably null
R5305:Ap1g2 UTSW 14 55,336,533 (GRCm39) missense probably benign
R5880:Ap1g2 UTSW 14 55,340,157 (GRCm39) missense probably damaging 1.00
R6243:Ap1g2 UTSW 14 55,336,530 (GRCm39) missense probably benign
R6964:Ap1g2 UTSW 14 55,336,722 (GRCm39) missense possibly damaging 0.85
R7039:Ap1g2 UTSW 14 55,340,111 (GRCm39) nonsense probably null
R7180:Ap1g2 UTSW 14 55,341,908 (GRCm39) missense probably damaging 1.00
R7563:Ap1g2 UTSW 14 55,337,206 (GRCm39) missense probably damaging 1.00
R7818:Ap1g2 UTSW 14 55,337,181 (GRCm39) missense probably benign 0.44
R7854:Ap1g2 UTSW 14 55,343,390 (GRCm39) missense probably damaging 1.00
R9060:Ap1g2 UTSW 14 55,337,887 (GRCm39) missense probably benign 0.00
R9171:Ap1g2 UTSW 14 55,336,581 (GRCm39) missense probably benign 0.05
R9276:Ap1g2 UTSW 14 55,339,818 (GRCm39) missense probably benign
Posted On 2015-04-16