Incidental Mutation 'R5155:Ap4e1'
ID 396632
Institutional Source Beutler Lab
Gene Symbol Ap4e1
Ensembl Gene ENSMUSG00000001998
Gene Name adaptor-related protein complex AP-4, epsilon 1
Synonyms 2310033A20Rik
MMRRC Submission 042737-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R5155 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 126850637-126909829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126905289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 987 (T987A)
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: T987A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000002063
Gene: ENSMUSG00000001998
AA Change: T987A

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,482,447 (GRCm39) V4326A probably damaging Het
Actn4 A G 7: 28,661,442 (GRCm39) probably null Het
Adamts8 A G 9: 30,865,844 (GRCm39) D464G probably benign Het
Adss1 T C 12: 112,604,642 (GRCm39) I366T probably damaging Het
Alox12e T C 11: 70,207,081 (GRCm39) D575G possibly damaging Het
Ankrd44 A T 1: 54,817,489 (GRCm39) M73K probably benign Het
Banp A C 8: 122,727,759 (GRCm39) S318R probably damaging Het
Bcas1 T C 2: 170,260,538 (GRCm39) H47R probably damaging Het
Brwd1 G T 16: 95,803,993 (GRCm39) S2524* probably null Het
Btbd8 T C 5: 107,638,569 (GRCm39) I323T probably damaging Het
Cand2 T A 6: 115,769,219 (GRCm39) D676E probably benign Het
Cc2d1a A T 8: 84,867,755 (GRCm39) H224Q probably benign Het
Ccdc138 A T 10: 58,343,394 (GRCm39) Y83F probably benign Het
Ccdc162 A T 10: 41,429,576 (GRCm39) probably null Het
Ccdc162 A C 10: 41,455,147 (GRCm39) S396A probably damaging Het
Ces1e A T 8: 93,928,034 (GRCm39) *562R probably null Het
Clstn2 T A 9: 97,338,484 (GRCm39) M892L probably benign Het
Crybg3 T C 16: 59,345,264 (GRCm39) T2673A possibly damaging Het
Cstf3 A G 2: 104,482,830 (GRCm39) N326S probably benign Het
Cux1 G A 5: 136,594,295 (GRCm39) probably benign Het
Cyb5r4 T G 9: 86,922,456 (GRCm39) M155R probably benign Het
D130043K22Rik A G 13: 25,056,273 (GRCm39) D535G probably damaging Het
Dnah2 G A 11: 69,313,362 (GRCm39) P4266S probably damaging Het
Dnah7a T A 1: 53,682,654 (GRCm39) N272I probably benign Het
Dsg2 A G 18: 20,731,715 (GRCm39) Y779C possibly damaging Het
Eif4g3 T A 4: 137,854,054 (GRCm39) N507K probably benign Het
Elavl4 T C 4: 110,149,833 (GRCm39) Q3R probably null Het
Engase T G 11: 118,372,107 (GRCm39) I133S probably benign Het
Ercc5 T C 1: 44,219,782 (GRCm39) V1018A probably damaging Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fam8a1 G A 13: 46,827,038 (GRCm39) A270T probably benign Het
Fhdc1 T G 3: 84,353,457 (GRCm39) Q589H probably benign Het
Gatm G A 2: 122,440,334 (GRCm39) T35I probably benign Het
Gcgr T C 11: 120,427,872 (GRCm39) I271T probably benign Het
Gm527 T A 12: 64,970,381 (GRCm39) Y239N probably damaging Het
H2-Ab1 A G 17: 34,486,358 (GRCm39) H139R possibly damaging Het
Herc2 G A 7: 55,877,574 (GRCm39) R4547Q possibly damaging Het
Itga1 A T 13: 115,171,839 (GRCm39) S89T probably benign Het
Kash5 C A 7: 44,839,078 (GRCm39) E53* probably null Het
Katnip A G 7: 125,471,356 (GRCm39) T1486A probably damaging Het
Lrba A G 3: 86,258,607 (GRCm39) M1365V probably benign Het
Lrp1b A C 2: 41,618,634 (GRCm39) probably null Het
Map1a G A 2: 121,132,867 (GRCm39) A990T probably damaging Het
Micall2 C A 5: 139,695,986 (GRCm39) L784F probably damaging Het
Mmp9 T C 2: 164,790,986 (GRCm39) probably null Het
Mrps7 T A 11: 115,495,655 (GRCm39) Y64* probably null Het
Mslnl C T 17: 25,957,942 (GRCm39) Q62* probably null Het
Nfil3 A G 13: 53,122,616 (GRCm39) L96P probably damaging Het
Or2f1 A G 6: 42,721,748 (GRCm39) Y259C probably damaging Het
Phf3 T C 1: 30,863,457 (GRCm39) D756G possibly damaging Het
Plxnd1 C T 6: 115,935,949 (GRCm39) probably null Het
Prickle4 C T 17: 48,000,982 (GRCm39) probably null Het
Prr9 T A 3: 92,030,356 (GRCm39) T95S possibly damaging Het
Prrc2a A G 17: 35,379,067 (GRCm39) probably null Het
Prrt3 A G 6: 113,474,520 (GRCm39) probably null Het
Psme4 A T 11: 30,826,806 (GRCm39) Y1775F probably damaging Het
Pum2 T C 12: 8,763,572 (GRCm39) V243A possibly damaging Het
Rnf32 T C 5: 29,408,145 (GRCm39) S125P probably damaging Het
Rnf8 A G 17: 29,845,604 (GRCm39) Y65C probably damaging Het
Rph3a T C 5: 121,086,833 (GRCm39) T456A possibly damaging Het
Scaper T A 9: 55,463,370 (GRCm39) Q854L probably null Het
Sez6l2 T C 7: 126,561,545 (GRCm39) S472P probably damaging Het
Spsb3 T C 17: 25,105,969 (GRCm39) probably benign Het
Srebf2 A G 15: 82,080,427 (GRCm39) D40G probably damaging Het
Sspo A G 6: 48,437,408 (GRCm39) N1389D probably benign Het
Taf4b G T 18: 14,963,152 (GRCm39) A631S probably benign Het
Tcstv1b T C 13: 120,635,089 (GRCm39) S124P probably benign Het
Tigd4 G A 3: 84,501,970 (GRCm39) V296M possibly damaging Het
Tsc22d2 T A 3: 58,324,737 (GRCm39) probably benign Het
Uso1 T A 5: 92,315,194 (GRCm39) probably null Het
Vmn2r6 T G 3: 64,445,935 (GRCm39) N597H probably benign Het
Zfc3h1 T A 10: 115,248,026 (GRCm39) S1076R possibly damaging Het
Zfp64 T A 2: 168,748,885 (GRCm39) Q44L probably benign 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
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'- TCCTCAGTAGAAGATTACTATCCACA -3'
(R):5'- AGTGGGAGAGAGTTAAGATTTACAT -3'

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