Incidental Mutation 'R4645:Ap4b1'
ID 350156
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 041906-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R4645 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 103716836-103729341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103728765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 468 (S468G)
Ref Sequence ENSEMBL: ENSMUSP00000143355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047285] [ENSMUST00000076599] [ENSMUST00000106823] [ENSMUST00000106824] [ENSMUST00000199710] [ENSMUST00000200377]
AlphaFold Q9WV76
Predicted Effect probably benign
Transcript: ENSMUST00000047285
AA Change: S636G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: S636G

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: ENSMUST00000076599
AA Change: S636G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: S636G

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 benign
Transcript: ENSMUST00000106823
AA Change: S608G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: S608G

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 benign
Transcript: ENSMUST00000106824
AA Change: S561G

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: S561G

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 benign
Transcript: ENSMUST00000199686
Predicted Effect probably benign
Transcript: ENSMUST00000199710
AA Change: S561G

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: S561G

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 benign
Transcript: ENSMUST00000200377
AA Change: S468G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143355
Gene: ENSMUSG00000032952
AA Change: S468G

DomainStartEndE-ValueType
Pfam:Adaptin_N 7 357 2.9e-45 PFAM
B2-adapt-app_C 451 563 2.8e-46 SMART
Meta Mutation Damage Score 0.2497 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (53/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,635,700 (GRCm39) E101G probably damaging Het
Adgrf5 A G 17: 43,748,416 (GRCm39) E29G probably damaging Het
Agfg2 T A 5: 137,682,854 (GRCm39) probably benign Het
AY702103 G T 17: 50,546,941 (GRCm39) noncoding transcript Het
Ccdc14 T C 16: 34,542,110 (GRCm39) L536S probably damaging Het
Ccr9 G T 9: 123,608,658 (GRCm39) M101I probably benign Het
Celsr1 A T 15: 85,800,957 (GRCm39) V2496E probably benign Het
Celsr2 C A 3: 108,303,285 (GRCm39) G2486V probably damaging Het
Cntnap3 A G 13: 64,926,602 (GRCm39) probably null Het
Erlin1 T C 19: 44,057,759 (GRCm39) Y22C probably damaging Het
Fam135b T C 15: 71,334,189 (GRCm39) T1002A probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Glud1 T C 14: 34,033,063 (GRCm39) V70A probably damaging Het
Hdlbp A G 1: 93,349,842 (GRCm39) probably benign Het
Immt T C 6: 71,833,923 (GRCm39) L184P probably damaging Het
Iqsec1 T G 6: 90,644,995 (GRCm39) K983T probably damaging Het
Klhl6 A T 16: 19,765,897 (GRCm39) N568K probably damaging Het
Lbhd1 T G 19: 8,861,452 (GRCm39) probably benign Het
Lrit2 C T 14: 36,794,432 (GRCm39) R499C probably benign Het
Lrp6 T C 6: 134,461,213 (GRCm39) D748G probably damaging Het
Lrriq4 A G 3: 30,704,892 (GRCm39) K292E probably benign Het
Ly96 G T 1: 16,761,940 (GRCm39) E49* probably null Het
Lztr1 C T 16: 17,341,955 (GRCm39) probably benign Het
Mmp12 A G 9: 7,347,515 (GRCm39) M31V probably benign Het
Mok A T 12: 110,774,873 (GRCm39) probably benign Het
Mpi T C 9: 57,458,040 (GRCm39) H54R probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Or4c101 T C 2: 88,390,722 (GRCm39) I292T probably damaging Het
Pomt1 G T 2: 32,132,888 (GRCm39) probably benign Het
Ptpn20 G A 14: 33,353,169 (GRCm39) V303I probably benign Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
Shank2 A G 7: 143,964,159 (GRCm39) K799R possibly damaging Het
Sim1 A T 10: 50,860,093 (GRCm39) T652S probably benign Het
Slc8a2 C T 7: 15,868,164 (GRCm39) T132I probably damaging Het
Spaca6 A T 17: 18,056,307 (GRCm39) probably benign Het
Sympk G T 7: 18,777,385 (GRCm39) R545L possibly damaging Het
Tenm4 G T 7: 96,544,949 (GRCm39) G2322W probably damaging Het
Thap1 A G 8: 26,652,597 (GRCm39) T135A probably damaging Het
Traf3 T C 12: 111,228,400 (GRCm39) V537A probably damaging Het
Ttn T C 2: 76,578,680 (GRCm39) D24071G probably damaging Het
Tysnd1 G T 10: 61,531,962 (GRCm39) V205L probably benign Het
Unc79 T C 12: 103,079,081 (GRCm39) S1749P probably benign Het
Vmn2r50 T A 7: 9,771,162 (GRCm39) *846C probably null Het
Vmn2r74 C T 7: 85,606,317 (GRCm39) S343N probably benign Het
Zfyve28 T G 5: 34,379,787 (GRCm39) probably benign Het
Zmym2 T C 14: 57,165,764 (GRCm39) S696P probably damaging Het
Zscan4e T C 7: 11,041,002 (GRCm39) Y290C possibly damaging Het
Zswim2 G T 2: 83,745,891 (GRCm39) H516N probably benign 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
R0299: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
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'- GATCCAAGGCTTCTCTTGCTTG -3'
(R):5'- AAAGGCCGCCAGTATCATC -3'

Sequencing Primer
(F):5'- AATATCCTCCACCCTGAGTACTGG -3'
(R):5'- CAGTATCATCCTGAGCACTGAGG -3'
Posted On 2015-10-08