Incidental Mutation 'IGL02421:Ap1g2'
ID292664
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: 0.490) question?
Stock #IGL02421
Quality Score
Status
Chromosome14
Chromosomal Location55098575-55106593 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 55102402 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 440 (A440V)
Ref Sequence ENSEMBL: ENSMUSP00000128427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022819] [ENSMUST00000036041] [ENSMUST00000050575] [ENSMUST00000124493] [ENSMUST00000127870] [ENSMUST00000131323] [ENSMUST00000151314] [ENSMUST00000170285] [ENSMUST00000183822] [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: A440V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701
AA Change: A440V

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 noncoding transcript
Transcript: ENSMUST00000153702
Predicted Effect probably damaging
Transcript: ENSMUST00000170285
AA Change: A440V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701
AA Change: A440V

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: ENSMUST00000183822
SMART Domains Protein: ENSMUSP00000140371
Gene: ENSMUSG00000045691

DomainStartEndE-ValueType
PDB:2JMU|A 5 64 3e-23 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183993
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T C 2: 155,050,752 F117S probably damaging Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Acacb A G 5: 114,223,878 T1394A probably benign Het
Adam19 A G 11: 46,137,553 N671S probably damaging Het
Akap13 A T 7: 75,717,806 N1815I possibly damaging Het
Aloxe3 A G 11: 69,130,046 D199G possibly damaging Het
Bmt2 G T 6: 13,628,842 Q281K probably damaging Het
Celsr3 T C 9: 108,840,463 F2243L probably damaging Het
Cenpb G A 2: 131,179,681 R66C probably damaging Het
Chl1 A T 6: 103,717,580 H1121L probably damaging Het
Cpb1 T C 3: 20,251,984 Y344C probably damaging Het
Cspg5 T A 9: 110,247,392 probably benign Het
Dnah11 T C 12: 118,186,902 N374D probably damaging Het
Dnah3 A G 7: 119,950,992 V3368A possibly damaging Het
Eml4 T C 17: 83,477,892 S829P probably benign Het
Gm14548 T C 7: 3,896,995 N203D possibly damaging Het
Got2-ps1 T C 5: 138,364,549 noncoding transcript Het
Hal T C 10: 93,503,473 C475R probably damaging Het
Mapkbp1 C T 2: 120,019,655 P806S possibly damaging Het
Mmrn1 A T 6: 60,944,822 T88S probably benign Het
Napsa A G 7: 44,585,055 H237R probably damaging Het
Olfr1215 T C 2: 89,001,344 probably null Het
Olfr412 T C 11: 74,365,191 I174T probably damaging Het
Olfr568 T C 7: 102,877,759 I213T probably damaging Het
Olfr661 A G 7: 104,688,533 N173D probably benign Het
Opn5 C T 17: 42,596,555 probably benign Het
Polb C T 8: 22,640,373 G179D probably damaging Het
Primpol G T 8: 46,607,795 probably benign Het
Prom2 T A 2: 127,531,882 probably null Het
Psmb10 A G 8: 105,937,492 probably null Het
Ranbp2 T G 10: 58,480,554 S2365R probably damaging Het
Sgce G A 6: 4,694,187 probably benign Het
Slc25a34 A G 4: 141,621,442 V237A probably benign Het
Slc39a2 A T 14: 51,893,872 T25S probably benign Het
Smarca4 T C 9: 21,639,239 C423R probably damaging Het
Stt3b G A 9: 115,251,852 probably benign Het
Tbl1xr1 A T 3: 22,203,163 I397F probably damaging Het
Tie1 A G 4: 118,486,394 V117A probably damaging Het
Tmc3 T C 7: 83,622,744 F1035L probably benign Het
Trhde T A 10: 114,412,461 K944N probably damaging Het
Vmn1r54 G A 6: 90,269,151 A16T probably benign Het
Washc4 T A 10: 83,579,550 N801K probably damaging Het
Xylt2 A G 11: 94,667,762 Y523H possibly damaging Het
Znfx1 T C 2: 167,060,080 R5G probably damaging Het
Other mutations in Ap1g2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Ap1g2 APN 14 55105114 missense probably benign 0.01
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
IGL03087:Ap1g2 APN 14 55103036 missense probably damaging 0.99
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
R7937:Ap1g2 UTSW 14 55105933 missense probably damaging 1.00
Posted On2015-04-16