Incidental Mutation 'R5157:Ap4e1'
ID 396764
Institutional Source Beutler Lab
Gene Symbol Ap4e1
Ensembl Gene ENSMUSG00000001998
Gene Name adaptor-related protein complex AP-4, epsilon 1
Synonyms 2310033A20Rik
MMRRC Submission 042739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R5157 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 126850637-126909829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126903615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 839 (D839G)
Ref Sequence ENSEMBL: ENSMUSP00000002063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002063] [ENSMUST00000142740] [ENSMUST00000177372]
AlphaFold Q80V94
Predicted Effect probably benign
Transcript: ENSMUST00000002063
AA Change: D839G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000002063
Gene: ENSMUSG00000001998
AA Change: D839G

DomainStartEndE-ValueType
Pfam:Adaptin_N 51 600 5.9e-90 PFAM
low complexity region 841 853 N/A INTRINSIC
AP4E_app_platf 1017 1120 4.2e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142740
Predicted Effect probably benign
Transcript: ENSMUST00000177372
SMART Domains Protein: ENSMUSP00000135449
Gene: ENSMUSG00000001998

DomainStartEndE-ValueType
Pfam:Adaptin_N 51 291 2.5e-47 PFAM
Meta Mutation Damage Score 0.0875 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enlarged lateral ventricles, decreased corpus callosum size, decreased vertical activity, and female anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,096 (GRCm39) R1266C probably damaging Het
Adap2 T C 11: 80,047,772 (GRCm39) F76S probably damaging Het
Adgb T A 10: 10,274,710 (GRCm39) H747L probably damaging Het
Aox1 T A 1: 58,109,222 (GRCm39) V670D probably damaging Het
Arhgef11 T A 3: 87,635,817 (GRCm39) probably null Het
AY074887 T C 9: 54,858,102 (GRCm39) probably benign Het
Bicd1 C G 6: 149,421,912 (GRCm39) Q878E probably benign Het
Catspere1 A T 1: 177,707,348 (GRCm39) noncoding transcript Het
Cnmd T C 14: 79,894,126 (GRCm39) Q87R probably benign Het
Col24a1 G T 3: 145,051,712 (GRCm39) G661* probably null Het
Crtap G A 9: 114,213,860 (GRCm39) L232F probably damaging Het
Ctsq T C 13: 61,184,913 (GRCm39) T258A probably benign Het
Cyp2d26 T C 15: 82,675,190 (GRCm39) Q388R probably benign Het
Ddb1 A T 19: 10,599,728 (GRCm39) T646S probably benign Het
Dnah6 G T 6: 73,172,617 (GRCm39) S280R probably benign Het
Dzank1 T C 2: 144,325,332 (GRCm39) H545R probably damaging Het
Ehhadh T A 16: 21,585,261 (GRCm39) M207L probably benign Het
Elmo2 T A 2: 165,133,627 (GRCm39) probably benign Het
Golga3 G A 5: 110,350,537 (GRCm39) A731T probably benign Het
Igsf21 T C 4: 139,755,378 (GRCm39) T426A possibly damaging Het
Kcnf1 T C 12: 17,224,742 (GRCm39) E493G probably benign Het
Lmna A T 3: 88,391,414 (GRCm39) D364E probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Map3k20 A T 2: 72,268,558 (GRCm39) T522S probably benign Het
Mroh9 C A 1: 162,871,690 (GRCm39) A598S probably damaging Het
Msln T C 17: 25,971,957 (GRCm39) M87V probably benign Het
Or14c39 A G 7: 86,344,440 (GRCm39) K259E probably benign Het
Or1e26 T C 11: 73,480,549 (GRCm39) N5S probably damaging Het
Or4a27 T A 2: 88,559,892 (GRCm39) Q17L probably benign Het
Or5d16 T A 2: 87,773,232 (GRCm39) M247L probably benign Het
Pals1 T A 12: 78,867,589 (GRCm39) M324K possibly damaging Het
Plekhg5 T A 4: 152,192,322 (GRCm39) probably benign Het
Pprc1 G T 19: 46,053,197 (GRCm39) probably benign Het
Ptprm T A 17: 67,264,092 (GRCm39) K385I probably benign Het
Rfxap T A 3: 54,711,938 (GRCm39) N215I probably damaging Het
Slc16a7 A T 10: 125,069,333 (GRCm39) Y114* probably null Het
Smarcb1 G T 10: 75,747,628 (GRCm39) probably benign Het
Spef2 T A 15: 9,668,877 (GRCm39) R770* probably null Het
Stard9 A T 2: 120,528,342 (GRCm39) Y1533F probably benign Het
Tbcd A T 11: 121,500,853 (GRCm39) Y1142F probably benign Het
Trappc2b A T 11: 51,576,893 (GRCm39) S2T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Uba7 G A 9: 107,857,246 (GRCm39) V703I probably benign Het
Upb1 T C 10: 75,248,638 (GRCm39) S53P possibly damaging Het
Zfp672 A G 11: 58,207,677 (GRCm39) S215P possibly damaging Het
Zfp978 T A 4: 147,475,437 (GRCm39) L328H probably damaging Het
Other mutations in Ap4e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Ap4e1 APN 2 126,870,201 (GRCm39) missense probably damaging 1.00
IGL00423:Ap4e1 APN 2 126,870,209 (GRCm39) missense probably damaging 0.99
IGL00659:Ap4e1 APN 2 126,905,221 (GRCm39) missense probably benign 0.30
IGL01155:Ap4e1 APN 2 126,885,365 (GRCm39) missense probably damaging 1.00
IGL01672:Ap4e1 APN 2 126,894,109 (GRCm39) missense probably damaging 1.00
IGL01866:Ap4e1 APN 2 126,888,830 (GRCm39) missense possibly damaging 0.83
IGL01940:Ap4e1 APN 2 126,885,431 (GRCm39) missense probably damaging 0.97
IGL02131:Ap4e1 APN 2 126,903,849 (GRCm39) missense probably benign
IGL02207:Ap4e1 APN 2 126,853,736 (GRCm39) missense probably damaging 1.00
IGL03394:Ap4e1 APN 2 126,905,317 (GRCm39) missense probably benign 0.18
quickstep UTSW 2 126,850,822 (GRCm39) critical splice donor site probably null
K7371:Ap4e1 UTSW 2 126,908,456 (GRCm39) unclassified probably benign
R0090:Ap4e1 UTSW 2 126,906,905 (GRCm39) missense possibly damaging 0.70
R0420:Ap4e1 UTSW 2 126,891,280 (GRCm39) missense probably damaging 1.00
R0490:Ap4e1 UTSW 2 126,888,106 (GRCm39) missense probably damaging 1.00
R0632:Ap4e1 UTSW 2 126,891,200 (GRCm39) nonsense probably null
R0670:Ap4e1 UTSW 2 126,853,784 (GRCm39) critical splice donor site probably null
R0698:Ap4e1 UTSW 2 126,905,283 (GRCm39) missense probably benign 0.00
R1183:Ap4e1 UTSW 2 126,856,121 (GRCm39) missense probably damaging 0.98
R1338:Ap4e1 UTSW 2 126,888,829 (GRCm39) missense probably damaging 1.00
R1513:Ap4e1 UTSW 2 126,903,475 (GRCm39) missense probably null 1.00
R1528:Ap4e1 UTSW 2 126,853,743 (GRCm39) missense possibly damaging 0.50
R1994:Ap4e1 UTSW 2 126,903,467 (GRCm39) missense probably benign 0.00
R2270:Ap4e1 UTSW 2 126,889,083 (GRCm39) critical splice donor site probably null
R2271:Ap4e1 UTSW 2 126,889,083 (GRCm39) critical splice donor site probably null
R3108:Ap4e1 UTSW 2 126,898,226 (GRCm39) critical splice donor site probably null
R4019:Ap4e1 UTSW 2 126,903,846 (GRCm39) missense probably benign 0.01
R4020:Ap4e1 UTSW 2 126,903,846 (GRCm39) missense probably benign 0.01
R4454:Ap4e1 UTSW 2 126,889,061 (GRCm39) missense probably damaging 1.00
R4691:Ap4e1 UTSW 2 126,903,791 (GRCm39) missense probably benign 0.08
R4767:Ap4e1 UTSW 2 126,902,358 (GRCm39) missense probably benign
R4803:Ap4e1 UTSW 2 126,891,479 (GRCm39) missense probably benign 0.20
R4804:Ap4e1 UTSW 2 126,885,678 (GRCm39) critical splice donor site probably null
R5155:Ap4e1 UTSW 2 126,905,289 (GRCm39) missense probably benign 0.02
R5248:Ap4e1 UTSW 2 126,906,842 (GRCm39) missense possibly damaging 0.95
R5363:Ap4e1 UTSW 2 126,879,784 (GRCm39) splice site probably null
R5507:Ap4e1 UTSW 2 126,850,818 (GRCm39) missense probably damaging 0.98
R5642:Ap4e1 UTSW 2 126,906,899 (GRCm39) missense possibly damaging 0.67
R6122:Ap4e1 UTSW 2 126,870,080 (GRCm39) splice site probably null
R6180:Ap4e1 UTSW 2 126,908,508 (GRCm39) nonsense probably null
R6298:Ap4e1 UTSW 2 126,889,035 (GRCm39) missense probably benign 0.00
R6329:Ap4e1 UTSW 2 126,903,636 (GRCm39) missense probably benign 0.10
R6543:Ap4e1 UTSW 2 126,908,525 (GRCm39) missense probably benign 0.03
R6954:Ap4e1 UTSW 2 126,906,871 (GRCm39) missense probably benign 0.01
R7144:Ap4e1 UTSW 2 126,853,727 (GRCm39) missense probably damaging 0.99
R7165:Ap4e1 UTSW 2 126,905,238 (GRCm39) missense possibly damaging 0.48
R7348:Ap4e1 UTSW 2 126,903,897 (GRCm39) missense possibly damaging 0.76
R7348:Ap4e1 UTSW 2 126,903,896 (GRCm39) missense probably damaging 0.96
R7382:Ap4e1 UTSW 2 126,850,822 (GRCm39) critical splice donor site probably null
R7571:Ap4e1 UTSW 2 126,861,256 (GRCm39) missense probably damaging 1.00
R7768:Ap4e1 UTSW 2 126,888,854 (GRCm39) missense probably damaging 1.00
R8875:Ap4e1 UTSW 2 126,877,100 (GRCm39) missense probably damaging 1.00
R9135:Ap4e1 UTSW 2 126,861,242 (GRCm39) missense probably damaging 1.00
R9592:Ap4e1 UTSW 2 126,903,588 (GRCm39) missense probably benign 0.14
R9701:Ap4e1 UTSW 2 126,875,563 (GRCm39) missense probably benign 0.01
X0060:Ap4e1 UTSW 2 126,905,330 (GRCm39) missense probably benign 0.01
X0065:Ap4e1 UTSW 2 126,903,570 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTTTGCAGTTGGGAAAAGCAGATG -3'
(R):5'- AGACACGGCTTCATTACTGCAG -3'

Sequencing Primer
(F):5'- GAAAAGCAGATGTTGTGTCTCAC -3'
(R):5'- TGCAGATTTCCACGAGACCTG -3'
Posted On 2016-06-21