Incidental Mutation 'R6298:Ap4e1'
ID 508871
Institutional Source Beutler Lab
Gene Symbol Ap4e1
Ensembl Gene ENSMUSG00000001998
Gene Name adaptor-related protein complex AP-4, epsilon 1
Synonyms 2310033A20Rik
MMRRC Submission 044408-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R6298 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 126850637-126909829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126889035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 500 (M500K)
Ref Sequence ENSEMBL: ENSMUSP00000002063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002063] [ENSMUST00000110394] [ENSMUST00000142740] [ENSMUST00000175663] [ENSMUST00000177372]
AlphaFold Q80V94
Predicted Effect probably benign
Transcript: ENSMUST00000002063
AA Change: M500K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000002063
Gene: ENSMUSG00000001998
AA Change: M500K

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
Meta Mutation Damage Score 0.1051 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (79/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,539,833 (GRCm39) M733L probably benign Het
Acss3 G A 10: 106,920,717 (GRCm39) P131L probably damaging Het
Adgrv1 T A 13: 81,539,886 (GRCm39) I5678F probably benign Het
Aff1 C T 5: 103,902,586 (GRCm39) L6F possibly damaging Het
Ank3 G T 10: 69,686,006 (GRCm39) R273L probably damaging Het
Anks1b G A 10: 90,516,699 (GRCm39) G898D probably damaging Het
Anxa11 C T 14: 25,873,158 (GRCm39) P131S unknown Het
Bag3 T C 7: 128,141,922 (GRCm39) S138P probably damaging Het
Capn9 T C 8: 125,344,193 (GRCm39) V670A probably benign Het
Ccne2 T A 4: 11,199,306 (GRCm39) W236R probably damaging Het
Cdh23 A T 10: 60,262,451 (GRCm39) Y702* probably null Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cit A T 5: 116,086,124 (GRCm39) E896V probably damaging Het
Cntln T A 4: 85,014,998 (GRCm39) N1096K probably damaging Het
Cntnap5c T C 17: 58,411,747 (GRCm39) C544R probably damaging Het
Csf1 A T 3: 107,655,675 (GRCm39) L452Q possibly damaging Het
Cts8 T A 13: 61,397,037 (GRCm39) K294N possibly damaging Het
Dcakd T G 11: 102,890,618 (GRCm39) E56D possibly damaging Het
Dnah17 T C 11: 117,998,987 (GRCm39) I929V probably benign Het
Dnah2 G T 11: 69,382,467 (GRCm39) H1214Q probably benign Het
Dock9 T C 14: 121,872,006 (GRCm39) D536G probably damaging Het
Drc3 A G 11: 60,284,596 (GRCm39) N467S possibly damaging Het
Dysf A G 6: 84,084,118 (GRCm39) probably null Het
Ecpas T G 4: 58,877,157 (GRCm39) T93P probably damaging Het
Evpl A T 11: 116,121,748 (GRCm39) L378Q probably damaging Het
Fer1l4 A T 2: 155,866,660 (GRCm39) H1520Q probably damaging Het
Fhod1 A T 8: 106,063,780 (GRCm39) probably benign Het
Gabra1 T A 11: 42,073,205 (GRCm39) probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm14137 A G 2: 119,005,572 (GRCm39) T44A possibly damaging Het
H2bl1 T A 13: 99,120,974 (GRCm39) R17S probably benign Het
Herc2 T C 7: 55,841,013 (GRCm39) M3444T probably benign Het
Igsf5 T C 16: 96,197,648 (GRCm39) S208P possibly damaging Het
Ino80b A G 6: 83,102,066 (GRCm39) L12P possibly damaging Het
Insrr A G 3: 87,720,272 (GRCm39) D970G probably damaging Het
Iqcf4 G A 9: 106,445,874 (GRCm39) A91V probably benign Het
Itga10 A G 3: 96,564,078 (GRCm39) T911A probably benign Het
Katnip T C 7: 125,469,869 (GRCm39) V1446A probably benign Het
Klhl30 A T 1: 91,285,086 (GRCm39) D314V probably benign Het
Lpcat1 T C 13: 73,659,074 (GRCm39) V330A possibly damaging Het
Myef2l T C 3: 10,154,239 (GRCm39) I336T probably damaging Het
Nhlrc3 A T 3: 53,359,944 (GRCm39) D306E possibly damaging Het
Notum T A 11: 120,548,766 (GRCm39) I187F probably damaging Het
Nphp3 T C 9: 103,892,640 (GRCm39) L288P probably damaging Het
Ntrk2 G T 13: 59,019,570 (GRCm39) E394* probably null Het
Or6k2 T A 1: 173,979,748 (GRCm39) V222D probably benign Het
Pbld2 A G 10: 62,874,931 (GRCm39) K63E probably benign Het
Phc2 T C 4: 128,641,982 (GRCm39) M768T possibly damaging Het
Pik3c2g G A 6: 139,603,561 (GRCm39) C249Y probably damaging Het
Plod1 G A 4: 148,000,772 (GRCm39) probably benign Het
Plscr2 A T 9: 92,172,772 (GRCm39) T9S probably benign Het
Pnrc1 T A 4: 33,246,315 (GRCm39) M215L probably benign Het
Prcp G T 7: 92,577,841 (GRCm39) C370F probably damaging Het
Pter A G 2: 12,983,205 (GRCm39) N70S probably damaging Het
Ptprt G T 2: 161,395,779 (GRCm39) H1131Q probably damaging Het
Rasal2 T C 1: 157,239,432 (GRCm39) D8G possibly damaging Het
Rcn2 A C 9: 55,960,209 (GRCm39) K159Q probably benign Het
Rex2 T A 4: 147,141,972 (GRCm39) C153* probably null Het
Rps6ka2 T C 17: 7,437,766 (GRCm39) F8S possibly damaging Het
Samd9l A G 6: 3,375,383 (GRCm39) L626S probably damaging Het
Sptb A G 12: 76,667,428 (GRCm39) probably null Het
Srgap3 A T 6: 112,793,571 (GRCm39) V135D probably damaging Het
Srsf7 T C 17: 80,514,682 (GRCm39) probably benign Het
Tacc2 A G 7: 130,228,255 (GRCm39) T1647A probably benign Het
Thap12 G T 7: 98,352,612 (GRCm39) A6S probably damaging Het
Tmem33 T A 5: 67,425,894 (GRCm39) L146* probably null Het
Trip13 C A 13: 74,084,378 (GRCm39) E36* probably null Het
Vkorc1l1 T A 5: 129,971,079 (GRCm39) C23S probably damaging Het
Vmn1r20 G A 6: 57,409,112 (GRCm39) R146H probably benign Het
Vmn1r222 T A 13: 23,416,965 (GRCm39) I83F probably benign Het
Vmn2r107 A T 17: 20,576,044 (GRCm39) I125F probably benign Het
Vmn2r116 A G 17: 23,605,736 (GRCm39) D216G probably damaging Het
Vwa3a C T 7: 120,394,874 (GRCm39) T898I probably benign Het
Wdfy3 T C 5: 102,116,812 (GRCm39) D76G probably damaging Het
Wdhd1 T C 14: 47,510,579 (GRCm39) D148G possibly damaging Het
Xylt1 T C 7: 117,255,960 (GRCm39) I844T probably damaging Het
Zfp106 A T 2: 120,353,185 (GRCm39) V1535D probably damaging Het
Zfp385b A T 2: 77,244,323 (GRCm39) L315Q possibly damaging Het
Zfp458 T A 13: 67,404,870 (GRCm39) H523L probably damaging Het
Zfp712 T C 13: 67,189,393 (GRCm39) H378R probably damaging Het
Zic1 T C 9: 91,246,556 (GRCm39) Y172C 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
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
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'- ATCCAGATATTCTCAGCAACTTCCTG -3'
(R):5'- GACCAGACCAGTGAGACAGTAC -3'

Sequencing Primer
(F):5'- CTTCCTGAGACTGCTAGCAGAAG -3'
(R):5'- CAAAGAAAAGATAAGTCAGCAGTTAC -3'
Posted On 2018-04-02