Incidental Mutation 'R0299:Ap4b1'
ID 24774
Institutional Source Beutler Lab
Gene Symbol Ap4b1
Ensembl Gene ENSMUSG00000032952
Gene Name adaptor-related protein complex AP-4, beta 1
Synonyms AP-4 beta-4, 1810038H16Rik
MMRRC Submission 038513-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R0299 (G1)
Quality Score 212
Status Validated
Chromosome 3
Chromosomal Location 103716836-103729341 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 103717262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000102436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029435] [ENSMUST00000047285] [ENSMUST00000063502] [ENSMUST00000076599] [ENSMUST00000106823] [ENSMUST00000106824] [ENSMUST00000200377] [ENSMUST00000199710] [ENSMUST00000198752] [ENSMUST00000106834] [ENSMUST00000128716] [ENSMUST00000106832]
AlphaFold Q9WV76
Predicted Effect probably benign
Transcript: ENSMUST00000029435
SMART Domains Protein: ENSMUSP00000029435
Gene: ENSMUSG00000027845

DomainStartEndE-ValueType
Lactamase_B 1 175 2.06e0 SMART
Pfam:DRMBL 215 301 1e-13 PFAM
PDB:3BUA|H 492 526 1e-10 PDB
Predicted Effect probably null
Transcript: ENSMUST00000047285
AA Change: M1T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Adaptin_N 6 525 7e-94 PFAM
Pfam:Cnd1 98 269 2.4e-11 PFAM
B2-adapt-app_C 619 731 3.75e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063502
SMART Domains Protein: ENSMUSP00000067695
Gene: ENSMUSG00000027845

DomainStartEndE-ValueType
Blast:Lactamase_B 1 49 4e-24 BLAST
Pfam:DRMBL 89 176 7.4e-20 PFAM
PDB:3BUA|H 366 400 8e-11 PDB
Predicted Effect probably null
Transcript: ENSMUST00000076599
AA Change: M1T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Adaptin_N 6 525 1e-93 PFAM
Pfam:Cnd1 98 286 3.9e-10 PFAM
B2-adapt-app_C 619 731 3.75e-42 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106823
AA Change: M1T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Adaptin_N 6 374 2e-68 PFAM
Pfam:Cnd1 98 285 1.4e-10 PFAM
Pfam:Adaptin_N 371 497 5.2e-16 PFAM
B2-adapt-app_C 591 703 3.75e-42 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106824
AA Change: M1T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Cnd1 35 212 5e-9 PFAM
Pfam:Adaptin_N 35 450 1.2e-62 PFAM
B2-adapt-app_C 544 656 3.75e-42 SMART
Predicted Effect probably null
Transcript: ENSMUST00000200377
AA Change: M1T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143355
Gene: ENSMUSG00000032952
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Adaptin_N 7 357 2.9e-45 PFAM
B2-adapt-app_C 451 563 2.8e-46 SMART
Predicted Effect probably null
Transcript: ENSMUST00000199710
AA Change: M1T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Cnd1 35 212 5e-9 PFAM
Pfam:Adaptin_N 35 450 1.2e-62 PFAM
B2-adapt-app_C 544 656 3.75e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147894
Predicted Effect probably benign
Transcript: ENSMUST00000198752
SMART Domains Protein: ENSMUSP00000143067
Gene: ENSMUSG00000027845

DomainStartEndE-ValueType
Blast:Lactamase_B 1 93 2e-64 BLAST
PDB:3ZDK|A 1 97 1e-62 PDB
SCOP:d1a7ta_ 3 93 5e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106834
SMART Domains Protein: ENSMUSP00000102447
Gene: ENSMUSG00000027845

DomainStartEndE-ValueType
Lactamase_B 1 175 2.06e0 SMART
Pfam:DRMBL 215 302 7.9e-20 PFAM
PDB:3BUA|H 492 526 1e-10 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000128716
SMART Domains Protein: ENSMUSP00000121063
Gene: ENSMUSG00000027845

DomainStartEndE-ValueType
Blast:Lactamase_B 1 63 3e-40 BLAST
PDB:3ZDK|A 1 63 3e-34 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000106832
SMART Domains Protein: ENSMUSP00000102445
Gene: ENSMUSG00000027845

DomainStartEndE-ValueType
Lactamase_B 1 175 2.06e0 SMART
Meta Mutation Damage Score 0.9629 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.3%
  • 20x: 90.1%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit poor rotarod performance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
4933427I04Rik A T 4: 123,754,615 (GRCm39) R176S possibly damaging Het
A2ml1 T G 6: 128,530,195 (GRCm39) probably benign Het
Abca13 G A 11: 9,248,076 (GRCm39) E2608K probably benign Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adcy8 T A 15: 64,588,015 (GRCm39) D894V probably damaging Het
Arg2 A G 12: 79,194,386 (GRCm39) D70G probably damaging Het
Atxn1 A G 13: 45,720,645 (GRCm39) S417P probably damaging Het
Btbd10 A T 7: 112,929,085 (GRCm39) S230T possibly damaging Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Clec2h T C 6: 128,647,858 (GRCm39) V69A probably damaging Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Col16a1 TCCCC TCCC 4: 129,952,111 (GRCm39) probably null Het
Degs1 A T 1: 182,106,836 (GRCm39) I141N probably damaging Het
Dnah1 C T 14: 30,998,115 (GRCm39) G2574D probably damaging Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Dock10 T C 1: 80,514,646 (GRCm39) R1424G probably damaging Het
Elp2 T C 18: 24,767,466 (GRCm39) I716T probably benign Het
Frk T C 10: 34,360,367 (GRCm39) probably null Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gin1 T A 1: 97,710,741 (GRCm39) S141R possibly damaging Het
Gm11596 G A 11: 99,683,770 (GRCm39) P117S unknown Het
Gm6327 T C 16: 12,579,061 (GRCm39) noncoding transcript Het
Hepacam2 A G 6: 3,476,121 (GRCm39) L268P probably damaging Het
Hps6 G A 19: 45,992,671 (GRCm39) V203M probably damaging Het
Hsd17b7 G A 1: 169,787,363 (GRCm39) probably benign Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Il1r2 T A 1: 40,162,309 (GRCm39) Y317* probably null Het
Ints8 C A 4: 11,246,097 (GRCm39) V190L probably benign Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Mecom A G 3: 30,034,560 (GRCm39) L372P probably benign Het
Mss51 T A 14: 20,534,756 (GRCm39) Q338L possibly damaging Het
Muc2 C T 7: 141,306,466 (GRCm39) T296I probably damaging Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nisch A G 14: 30,893,881 (GRCm39) Y1231H probably damaging Het
Or10ak14 A T 4: 118,611,732 (GRCm39) M1K probably null Het
Or10ak9 A G 4: 118,726,613 (GRCm39) I212V probably benign Het
Pcsk6 T C 7: 65,688,791 (GRCm39) V820A probably benign Het
Pdcd10 T C 3: 75,434,958 (GRCm39) K111R probably damaging Het
Pdgfrb T A 18: 61,201,924 (GRCm39) V496E probably benign Het
Pelo A T 13: 115,225,439 (GRCm39) C40* probably null Het
Plxnc1 C T 10: 94,685,683 (GRCm39) probably null Het
Ptpru G A 4: 131,530,698 (GRCm39) Q519* probably null Het
Pzp A G 6: 128,472,293 (GRCm39) probably benign Het
Rad21 A T 15: 51,828,426 (GRCm39) D547E probably benign Het
Serpina1d A T 12: 103,732,016 (GRCm39) L281Q probably damaging Het
Serpina9 T C 12: 103,967,729 (GRCm39) N222S probably benign Het
Sh3bgrl2 A G 9: 83,459,612 (GRCm39) K57E probably damaging Het
Shtn1 T C 19: 59,007,383 (GRCm39) E289G probably benign Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Slamf7 G A 1: 171,476,499 (GRCm39) probably benign Het
Sppl3 T A 5: 115,227,053 (GRCm39) probably benign Het
Suco G A 1: 161,681,379 (GRCm39) T253I probably benign Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tram2 T C 1: 21,074,468 (GRCm39) D238G probably damaging Het
Trpm3 T C 19: 22,964,237 (GRCm39) M1244T possibly damaging Het
Trub1 A G 19: 57,472,057 (GRCm39) T178A possibly damaging Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Vmn1r25 T A 6: 57,955,494 (GRCm39) Q265L probably damaging Het
Zfp821 G T 8: 110,450,862 (GRCm39) R285L probably damaging Het
Other mutations in Ap4b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Ap4b1 APN 3 103,728,858 (GRCm39) missense probably benign 0.19
IGL01545:Ap4b1 APN 3 103,720,143 (GRCm39) missense probably benign 0.02
IGL02422:Ap4b1 APN 3 103,720,170 (GRCm39) missense possibly damaging 0.95
IGL02525:Ap4b1 APN 3 103,720,164 (GRCm39) missense probably damaging 1.00
R0035:Ap4b1 UTSW 3 103,727,980 (GRCm39) splice site probably benign
R0035:Ap4b1 UTSW 3 103,727,980 (GRCm39) splice site probably benign
R0086:Ap4b1 UTSW 3 103,722,176 (GRCm39) missense probably damaging 0.99
R0090:Ap4b1 UTSW 3 103,727,745 (GRCm39) missense possibly damaging 0.91
R0136:Ap4b1 UTSW 3 103,717,262 (GRCm39) start codon destroyed probably null 1.00
R0403:Ap4b1 UTSW 3 103,728,712 (GRCm39) missense probably benign 0.00
R0403:Ap4b1 UTSW 3 103,726,155 (GRCm39) missense probably damaging 0.99
R1283:Ap4b1 UTSW 3 103,726,177 (GRCm39) missense probably damaging 1.00
R1673:Ap4b1 UTSW 3 103,725,161 (GRCm39) critical splice donor site probably null
R1797:Ap4b1 UTSW 3 103,726,149 (GRCm39) missense possibly damaging 0.92
R1869:Ap4b1 UTSW 3 103,728,184 (GRCm39) nonsense probably null
R2925:Ap4b1 UTSW 3 103,727,997 (GRCm39) missense probably damaging 1.00
R3905:Ap4b1 UTSW 3 103,726,209 (GRCm39) missense possibly damaging 0.94
R4079:Ap4b1 UTSW 3 103,720,694 (GRCm39) missense probably damaging 1.00
R4645:Ap4b1 UTSW 3 103,728,765 (GRCm39) missense probably benign 0.32
R4786:Ap4b1 UTSW 3 103,726,120 (GRCm39) missense probably benign 0.00
R5824:Ap4b1 UTSW 3 103,720,701 (GRCm39) missense probably benign 0.30
R6342:Ap4b1 UTSW 3 103,720,684 (GRCm39) missense possibly damaging 0.60
R6826:Ap4b1 UTSW 3 103,720,224 (GRCm39) critical splice donor site probably null
R6923:Ap4b1 UTSW 3 103,719,530 (GRCm39) missense probably benign 0.19
R6974:Ap4b1 UTSW 3 103,720,601 (GRCm39) nonsense probably null
R7409:Ap4b1 UTSW 3 103,719,474 (GRCm39) missense probably damaging 0.98
R7827:Ap4b1 UTSW 3 103,722,398 (GRCm39) missense probably damaging 1.00
R8432:Ap4b1 UTSW 3 103,728,135 (GRCm39) missense probably benign 0.00
R8499:Ap4b1 UTSW 3 103,728,018 (GRCm39) missense probably damaging 0.98
R8504:Ap4b1 UTSW 3 103,720,116 (GRCm39) missense probably damaging 0.99
R8897:Ap4b1 UTSW 3 103,729,065 (GRCm39) missense probably benign
R9138:Ap4b1 UTSW 3 103,722,626 (GRCm39) missense probably damaging 1.00
R9283:Ap4b1 UTSW 3 103,722,259 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTTCCGCAGGAAGCTGTCTGG -3'
(R):5'- GTTCCACACGGAAGACTGAGATGAC -3'

Sequencing Primer
(F):5'- GGCCACTGGGACTAGATTC -3'
(R):5'- TCTGAAGAGGATTAAAAGTggggc -3'
Posted On 2013-04-16