Incidental Mutation 'IGL03087:Ap1g2'
ID418158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1g2
Ensembl Gene ENSMUSG00000040701
Gene Nameadaptor protein complex AP-1, gamma 2 subunit
Synonymsgamma 2-adaptin, Adtg2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.401) question?
Stock #IGL03087
Quality Score
Status
Chromosome14
Chromosomal Location55098575-55106593 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 55103036 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 331 (T331I)
Ref Sequence ENSEMBL: ENSMUSP00000128427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022819] [ENSMUST00000036041] [ENSMUST00000050575] [ENSMUST00000124493] [ENSMUST00000127870] [ENSMUST00000131323] [ENSMUST00000151314] [ENSMUST00000170285] [ENSMUST00000185121]
Predicted Effect probably benign
Transcript: ENSMUST00000022819
SMART Domains Protein: ENSMUSP00000022819
Gene: ENSMUSG00000022208

DomainStartEndE-ValueType
MORN 13 34 1.63e0 SMART
MORN 59 80 1.62e-1 SMART
MORN 104 125 4.76e-2 SMART
MORN 127 148 5.26e-4 SMART
low complexity region 170 180 N/A INTRINSIC
low complexity region 216 246 N/A INTRINSIC
MORN 280 301 1.37e-2 SMART
MORN 303 324 3.29e-5 SMART
low complexity region 367 406 N/A INTRINSIC
low complexity region 453 467 N/A INTRINSIC
low complexity region 528 553 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000036041
AA Change: T331I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701
AA Change: T331I

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: ENSMUST00000124493
SMART Domains Protein: ENSMUSP00000121893
Gene: ENSMUSG00000022208

DomainStartEndE-ValueType
MORN 13 34 1.63e0 SMART
MORN 59 80 1.62e-1 SMART
MORN 104 125 4.76e-2 SMART
MORN 127 148 5.26e-4 SMART
low complexity region 170 180 N/A INTRINSIC
low complexity region 216 246 N/A INTRINSIC
MORN 280 301 1.37e-2 SMART
MORN 303 324 3.29e-5 SMART
low complexity region 367 406 N/A INTRINSIC
low complexity region 453 467 N/A INTRINSIC
low complexity region 528 553 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
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: ENSMUST00000137481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144197
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 probably damaging
Transcript: ENSMUST00000170285
AA Change: T331I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701
AA Change: T331I

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 noncoding transcript
Transcript: ENSMUST00000153702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185121
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 24,997,632 probably benign Het
Acbd5 A G 2: 23,089,710 T261A probably benign Het
Ap4m1 A G 5: 138,174,804 T150A probably benign Het
Arid4a G T 12: 71,075,245 R478L possibly damaging Het
Bard1 T C 1: 71,067,130 D446G probably damaging Het
Baz2a T C 10: 128,122,313 L1087P probably damaging Het
Bnc1 A G 7: 81,974,642 L279P possibly damaging Het
Bphl A T 13: 34,073,711 H275L probably damaging Het
Ces1c T C 8: 93,118,414 I120V probably benign Het
Csmd3 T A 15: 47,977,033 Y946F probably damaging Het
Dnah8 G A 17: 30,784,144 V3606I probably benign Het
Eef2 A G 10: 81,181,247 N696S probably benign Het
Eno4 A G 19: 58,962,816 H420R possibly damaging Het
Enpp1 T A 10: 24,655,881 probably benign Het
Fbxo25 T C 8: 13,924,019 probably null Het
Glt8d1 T A 14: 31,010,096 F155I probably damaging Het
Golim4 A T 3: 75,878,673 H598Q possibly damaging Het
Hnrnpdl T A 5: 100,037,601 E149D probably damaging Het
Ifngr2 G T 16: 91,563,004 *333L probably null Het
Ift88 T C 14: 57,477,957 S486P probably benign Het
Igsf9 T C 1: 172,490,743 I150T probably benign Het
Jag2 G A 12: 112,913,948 L670F possibly damaging Het
Kcnc2 T A 10: 112,455,747 I280N probably benign Het
Kif18a A G 2: 109,318,117 probably benign Het
Lct A G 1: 128,300,375 L1127P possibly damaging Het
Lonrf1 A T 8: 36,225,551 probably null Het
Lyst T A 13: 13,635,056 I437N probably damaging Het
Map3k1 A G 13: 111,749,025 S1453P probably benign Het
Mcmdc2 A G 1: 9,930,945 M482V possibly damaging Het
Mical1 T C 10: 41,482,690 S535P probably damaging Het
Myh3 T C 11: 67,090,972 F765L probably damaging Het
Nat8f6 A T 6: 85,808,517 Y217N probably damaging Het
Ndufaf1 A G 2: 119,655,799 probably benign Het
Neurod6 A T 6: 55,678,775 C292* probably null Het
Olfr1106 A T 2: 87,049,012 S75T possibly damaging Het
Olfr1255 A G 2: 89,816,671 E109G probably damaging Het
Olfr530 T A 7: 140,373,092 I173F probably damaging Het
Olfr809 A T 10: 129,776,261 M116L probably damaging Het
Olfr828 T C 9: 18,816,084 D70G probably damaging Het
Pcdhac2 A G 18: 37,145,682 N572D probably damaging Het
Pfpl A G 19: 12,428,877 N164S probably benign Het
Pi4kb A G 3: 94,984,764 R264G probably benign Het
Pla2g2c T A 4: 138,731,612 F10I probably benign Het
Rag2 G A 2: 101,630,214 V290I probably benign Het
Rhot2 G A 17: 25,841,141 probably benign Het
Rps6kc1 T C 1: 190,871,711 Y238C probably damaging Het
Scyl2 G T 10: 89,652,968 A495D possibly damaging Het
Sept4 T A 11: 87,585,245 probably benign Het
Serpina5 G T 12: 104,101,733 A18S probably benign Het
Slc25a11 T C 11: 70,645,207 T234A probably benign Het
Slc44a2 C T 9: 21,346,765 T435I probably benign Het
Tekt2 T A 4: 126,324,867 Q31L possibly damaging Het
Tfpi A G 2: 84,444,045 V199A possibly damaging Het
Trap1 G T 16: 4,044,701 probably null Het
Trmt1 A G 8: 84,695,233 Y213C probably damaging Het
Ubr4 C T 4: 139,450,357 R3184* probably null Het
Uroc1 G T 6: 90,363,103 probably benign Het
Vmn1r19 A G 6: 57,404,491 I10V probably benign Het
Zfhx2 G A 14: 55,072,845 A748V possibly damaging Het
Other mutations in Ap1g2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Ap1g2 APN 14 55105114 missense probably benign 0.01
IGL02421:Ap1g2 APN 14 55102402 missense probably damaging 1.00
IGL02633:Ap1g2 APN 14 55100647 splice site probably null
IGL02967:Ap1g2 APN 14 55105022 splice site probably benign
IGL03030:Ap1g2 APN 14 55106047 missense probably damaging 1.00
IGL03261:Ap1g2 APN 14 55100530 missense probably benign 0.00
IGL03308:Ap1g2 APN 14 55104876 missense probably benign 0.44
R0284:Ap1g2 UTSW 14 55101692 splice site probably benign
R0614:Ap1g2 UTSW 14 55099773 missense probably benign 0.00
R0762:Ap1g2 UTSW 14 55100411 splice site probably benign
R1561:Ap1g2 UTSW 14 55104887 missense probably damaging 1.00
R1889:Ap1g2 UTSW 14 55101429 missense probably damaging 1.00
R1938:Ap1g2 UTSW 14 55099772 missense possibly damaging 0.80
R1997:Ap1g2 UTSW 14 55102378 missense probably benign 0.00
R2169:Ap1g2 UTSW 14 55099340 critical splice acceptor site probably null
R3157:Ap1g2 UTSW 14 55099274 missense probably damaging 0.96
R3820:Ap1g2 UTSW 14 55100573 splice site probably benign
R3850:Ap1g2 UTSW 14 55104906 missense probably benign 0.03
R4750:Ap1g2 UTSW 14 55104365 missense probably damaging 1.00
R4909:Ap1g2 UTSW 14 55105026 critical splice donor site probably null
R5305:Ap1g2 UTSW 14 55099076 missense probably benign
R5880:Ap1g2 UTSW 14 55102700 missense probably damaging 1.00
R6243:Ap1g2 UTSW 14 55099073 missense probably benign
R6964:Ap1g2 UTSW 14 55099265 missense possibly damaging 0.85
R7039:Ap1g2 UTSW 14 55102654 nonsense probably null
R7180:Ap1g2 UTSW 14 55104451 missense probably damaging 1.00
R7563:Ap1g2 UTSW 14 55099749 missense probably damaging 1.00
R7818:Ap1g2 UTSW 14 55099724 missense probably benign 0.44
R7854:Ap1g2 UTSW 14 55105933 missense probably damaging 1.00
Posted On2016-08-02