Incidental Mutation 'R2271:Ap4e1'
ID 242446
Institutional Source Beutler Lab
Gene Symbol Ap4e1
Ensembl Gene ENSMUSG00000001998
Gene Name adaptor-related protein complex AP-4, epsilon 1
Synonyms 2310033A20Rik
MMRRC Submission 040271-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R2271 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 126850637-126909829 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 126889083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000002063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002063] [ENSMUST00000110394] [ENSMUST00000142740] [ENSMUST00000175663] [ENSMUST00000177372]
AlphaFold Q80V94
Predicted Effect probably null
Transcript: ENSMUST00000002063
SMART Domains Protein: ENSMUSP00000002063
Gene: ENSMUSG00000001998

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: ENSMUST00000110394
SMART Domains Protein: ENSMUSP00000106024
Gene: ENSMUSG00000001998

DomainStartEndE-ValueType
Pfam:Adaptin_N 51 392 2.4e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142740
Predicted Effect probably benign
Transcript: ENSMUST00000175663
SMART Domains Protein: ENSMUSP00000135599
Gene: ENSMUSG00000001998

DomainStartEndE-ValueType
Pfam:Adaptin_N 51 355 1.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177372
SMART Domains Protein: ENSMUSP00000135449
Gene: ENSMUSG00000001998

DomainStartEndE-ValueType
Pfam:Adaptin_N 51 291 2.5e-47 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T A 10: 28,857,575 (GRCm39) Q194L probably damaging Het
Acsf2 T A 11: 94,449,699 (GRCm39) K574* probably null Het
Adam22 T C 5: 8,171,108 (GRCm39) E614G probably damaging Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Bcan T A 3: 87,900,401 (GRCm39) S611C probably damaging Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Ccdc146 C A 5: 21,604,719 (GRCm39) D40Y probably benign Het
Ccdc83 C T 7: 89,873,285 (GRCm39) V357I probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Chd7 A G 4: 8,785,532 (GRCm39) D612G probably damaging Het
Chst11 T C 10: 83,027,004 (GRCm39) Y144H probably damaging Het
Cops6 A T 5: 138,159,403 (GRCm39) N10I probably benign Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Cyp27a1 A G 1: 74,775,846 (GRCm39) N344D probably damaging Het
Des T G 1: 75,340,137 (GRCm39) M348R probably damaging Het
Dis3l T A 9: 64,238,165 (GRCm39) D109V probably damaging Het
Disp3 C T 4: 148,356,059 (GRCm39) R267Q possibly damaging Het
Dnah3 T A 7: 119,574,352 (GRCm39) I2136F probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Dnajb14 G A 3: 137,591,141 (GRCm39) G31S probably benign Het
Dop1a T G 9: 86,376,471 (GRCm39) V235G probably damaging Het
Efcab6 T A 15: 83,831,200 (GRCm39) R571S probably benign Het
Emsy T G 7: 98,275,830 (GRCm39) K352N probably damaging Het
Erbb4 T C 1: 68,238,047 (GRCm39) N814S probably damaging Het
Fgfbp1 T A 5: 44,136,672 (GRCm39) M207L probably benign Het
Filip1 T C 9: 79,727,212 (GRCm39) E469G probably damaging Het
Garem2 T G 5: 30,321,972 (GRCm39) L777R probably damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hkdc1 T C 10: 62,253,677 (GRCm39) T35A probably benign Het
Hps6 C T 19: 45,994,121 (GRCm39) A686V possibly damaging Het
Irs1 T C 1: 82,266,180 (GRCm39) S679G probably benign Het
Ism1 T A 2: 139,599,293 (GRCm39) I415N probably damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mocs1 A T 17: 49,756,137 (GRCm39) K198M probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msh5 A G 17: 35,263,366 (GRCm39) I154T probably benign Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Ndufv1 C A 19: 4,058,347 (GRCm39) R359L probably benign Het
Neu3 G C 7: 99,462,650 (GRCm39) R358G probably benign Het
Ntrk3 A C 7: 78,166,471 (GRCm39) probably null Het
Or1n1 G A 2: 36,749,637 (GRCm39) S241F probably damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Or8j3 A G 2: 86,028,161 (GRCm39) F312L probably benign Het
Pik3c2b T C 1: 133,031,166 (GRCm39) S1491P probably benign Het
Plb1 G T 5: 32,450,586 (GRCm39) D376Y probably damaging Het
Plch1 T A 3: 63,651,956 (GRCm39) K378N probably damaging Het
Plekhm1 C T 11: 103,277,948 (GRCm39) E383K probably benign Het
Plxnb1 T C 9: 108,931,776 (GRCm39) probably null Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Psma5-ps A G 10: 85,149,595 (GRCm39) noncoding transcript Het
Ptprh C A 7: 4,606,132 (GRCm39) probably benign Het
Rngtt T A 4: 33,500,302 (GRCm39) C565* probably null Het
Sacs A G 14: 61,442,109 (GRCm39) H1385R probably benign Het
Sec24a A G 11: 51,607,277 (GRCm39) S656P possibly damaging Het
Serpinb13 A T 1: 106,926,756 (GRCm39) I251L possibly damaging Het
Shc1 G A 3: 89,330,849 (GRCm39) G91S probably damaging Het
Sin3b T A 8: 73,460,047 (GRCm39) N211K probably benign Het
Slc22a2 A T 17: 12,805,692 (GRCm39) M148L probably benign Het
Slc3a1 G A 17: 85,371,220 (GRCm39) V591I probably benign Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Spag17 C T 3: 100,014,113 (GRCm39) P2129S probably damaging Het
Specc1l C T 10: 75,081,438 (GRCm39) S278F probably damaging Het
Sphkap T A 1: 83,234,942 (GRCm39) D1628V probably damaging Het
Themis3 C T 17: 66,862,699 (GRCm39) V420I possibly damaging Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
U2surp T C 9: 95,373,473 (GRCm39) E232G possibly damaging Het
Usp25 T A 16: 76,873,317 (GRCm39) F458L probably damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r10 A G 6: 57,091,088 (GRCm39) T227A probably damaging Het
Zcchc12 C T X: 35,462,118 (GRCm39) T345M possibly damaging Het
Zfp444 T C 7: 6,192,554 (GRCm39) C191R probably damaging Het
Zfp729b A T 13: 67,740,352 (GRCm39) C648S probably damaging Het
Zfp799 A G 17: 33,040,777 (GRCm39) Y58H probably damaging Het
Zfp938 C T 10: 82,061,381 (GRCm39) G413D 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
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
R5157:Ap4e1 UTSW 2 126,903,615 (GRCm39) missense probably benign 0.00
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'- TCATTGGCAAATGAGTGGAAAC -3'
(R):5'- CTCAAATGCCACTGGTGTTATG -3'

Sequencing Primer
(F):5'- GTGGAAACTAAACTGGTGTTGC -3'
(R):5'- AAGTTCAAGGCTTCCCATGG -3'
Posted On 2014-10-16