Incidental Mutation 'R4786:Ap4b1'
ID 472948
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 041995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R4786 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 103716836-103729341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103726120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 372 (V372E)
Ref Sequence ENSEMBL: ENSMUSP00000102436 (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: V400E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: V400E

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: V400E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: V400E

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: V372E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: V372E

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: V325E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: V325E

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: V325E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: V325E

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: V232E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000143355
Gene: ENSMUSG00000032952
AA Change: V232E

DomainStartEndE-ValueType
Pfam:Adaptin_N 7 357 2.9e-45 PFAM
B2-adapt-app_C 451 563 2.8e-46 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199723
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,106,321 (GRCm39) I134N possibly damaging Het
Acvr1c T C 2: 58,170,366 (GRCm39) Y414C probably damaging Het
Adam32 A C 8: 25,353,509 (GRCm39) S693R probably damaging Het
Aldh2 A T 5: 121,710,887 (GRCm39) F314Y probably benign Het
Anks1 A G 17: 28,271,704 (GRCm39) D874G possibly damaging Het
Aqp12 G A 1: 92,934,177 (GRCm39) C18Y probably damaging Het
Arap1 T A 7: 101,034,212 (GRCm39) I218N possibly damaging Het
Arhgap42 C A 9: 9,238,703 (GRCm39) E28* probably null Het
Asb5 G A 8: 55,038,874 (GRCm39) E247K probably benign Het
Atg9b T C 5: 24,591,087 (GRCm39) D781G possibly damaging Het
Atxn10 A G 15: 85,271,344 (GRCm39) H294R probably benign Het
Bod1l G T 5: 41,976,781 (GRCm39) T1511K probably benign Het
Btnl2 A T 17: 34,582,322 (GRCm39) N296I probably damaging Het
Camta1 A T 4: 151,374,496 (GRCm39) L168H probably damaging Het
Cant1 A T 11: 118,299,665 (GRCm39) V265E possibly damaging Het
Ccdc157 T C 11: 4,101,861 (GRCm39) D20G probably damaging Het
Cd209c T G 8: 3,995,698 (GRCm39) T35P possibly damaging Het
Cdc20b G A 13: 113,215,268 (GRCm39) V279M probably damaging Het
Cdh18 T A 15: 23,410,873 (GRCm39) W453R probably null Het
Cdh24 A G 14: 54,875,007 (GRCm39) S333P possibly damaging Het
Ceacam11 T C 7: 17,706,239 (GRCm39) probably null Het
Ciz1 C T 2: 32,267,539 (GRCm39) P150L probably damaging Het
Crip3 C A 17: 46,741,968 (GRCm39) Q152K possibly damaging Het
Dars2 G A 1: 160,888,330 (GRCm39) R197W probably damaging Het
Dctn4 A G 18: 60,688,267 (GRCm39) D394G probably damaging Het
Dido1 T C 2: 180,312,664 (GRCm39) Y1077C possibly damaging Het
Dnhd1 A G 7: 105,323,651 (GRCm39) T641A probably benign Het
Egln3 A T 12: 54,232,367 (GRCm39) I146N probably damaging Het
Eif2ak3 C T 6: 70,869,602 (GRCm39) T763M possibly damaging Het
Etfbkmt A T 6: 149,048,744 (GRCm39) M1L probably benign Het
Fam171a1 A T 2: 3,226,615 (GRCm39) I583F probably damaging Het
Fbxo38 A C 18: 62,662,745 (GRCm39) L249W probably damaging Het
Fxyd5 T C 7: 30,740,907 (GRCm39) probably benign Het
Gabrr3 C A 16: 59,250,463 (GRCm39) T154K probably benign Het
Gm7233 C A 14: 43,038,347 (GRCm39) D90E probably benign Het
Gm8186 A G 17: 26,318,014 (GRCm39) V61A probably benign Het
Gnao1 A G 8: 94,670,931 (GRCm39) I137V probably benign Het
Gnptab A G 10: 88,272,044 (GRCm39) M945V probably damaging Het
Gpsm1 G A 2: 26,212,493 (GRCm39) A78T probably benign Het
Gtf2b T C 3: 142,487,230 (GRCm39) L222P probably damaging Het
Hnrnpf A G 6: 117,900,857 (GRCm39) Y47C probably damaging Het
Itga6 A G 2: 71,669,034 (GRCm39) N608S possibly damaging Het
Kdm2b T C 5: 123,018,917 (GRCm39) probably null Het
Krit1 T A 5: 3,862,467 (GRCm39) H207Q possibly damaging Het
Ky A G 9: 102,419,186 (GRCm39) N398D probably benign Het
Lama1 T A 17: 68,080,854 (GRCm39) V1294E possibly damaging Het
Lef1 C T 3: 130,905,173 (GRCm39) T18I probably damaging Het
Lrp2 T C 2: 69,368,300 (GRCm39) N178S probably damaging Het
Lrrc36 A G 8: 106,181,910 (GRCm39) T525A probably benign Het
Map3k8 A T 18: 4,340,647 (GRCm39) C222* probably null Het
Mapre2 G C 18: 24,011,016 (GRCm39) S199T probably benign Het
Mcm3ap A G 10: 76,324,300 (GRCm39) N911S probably benign Het
Mroh4 G T 15: 74,482,083 (GRCm39) H722Q probably benign Het
Muc21 A T 17: 35,930,221 (GRCm39) probably benign Het
Myo5b A C 18: 74,828,451 (GRCm39) Y701S probably benign Het
Myt1l G T 12: 29,861,457 (GRCm39) V80L unknown Het
Ncoa7 C A 10: 30,531,638 (GRCm39) V24L probably benign Het
Nlrp10 A T 7: 108,524,445 (GRCm39) V345D probably damaging Het
Nmral1 C A 16: 4,534,288 (GRCm39) G51V probably damaging Het
Npc1 A G 18: 12,332,554 (GRCm39) I797T probably benign Het
Or4x6 A T 2: 89,949,351 (GRCm39) I197N possibly damaging Het
Or8g22 T A 9: 38,958,783 (GRCm39) R22* probably null Het
Or8g34 A T 9: 39,373,137 (GRCm39) I134L probably benign Het
Pclo A T 5: 14,773,281 (GRCm39) I4419F unknown Het
Phf3 C A 1: 30,855,638 (GRCm39) E983* probably null Het
Pitpnm2 A T 5: 124,259,806 (GRCm39) Y1149* probably null Het
Sdc3 A T 4: 130,550,079 (GRCm39) T430S probably damaging Het
Sema3f A G 9: 107,559,881 (GRCm39) V671A probably benign Het
Sigirr T G 7: 140,671,346 (GRCm39) S379R probably benign Het
Slc25a23 T A 17: 57,354,326 (GRCm39) N360I possibly damaging Het
Slco6c1 A T 1: 97,015,720 (GRCm39) M357K probably benign Het
Sox14 C A 9: 99,757,018 (GRCm39) M240I probably benign Het
Stradb A T 1: 59,030,367 (GRCm39) probably benign Het
Szt2 A T 4: 118,256,259 (GRCm39) M200K probably benign Het
Tef T C 15: 81,699,453 (GRCm39) S85P probably benign Het
Thada T A 17: 84,766,283 (GRCm39) H41L possibly damaging Het
Tinagl1 A G 4: 130,067,724 (GRCm39) F90S probably benign Het
Tnfaip1 G A 11: 78,421,045 (GRCm39) T5I possibly damaging Het
Tnfrsf23 A T 7: 143,233,801 (GRCm39) V59D probably damaging Het
Tnpo3 A G 6: 29,578,541 (GRCm39) V311A probably benign Het
Trak1 T A 9: 121,301,560 (GRCm39) M772K probably benign Het
Ubash3a A G 17: 31,436,938 (GRCm39) D185G probably benign Het
Vmn2r120 T C 17: 57,829,048 (GRCm39) T516A probably benign Het
Wdr4 A C 17: 31,728,785 (GRCm39) L130R probably damaging Het
Zfp12 T C 5: 143,231,257 (GRCm39) I528T probably damaging Het
Zfp607a T C 7: 27,578,838 (GRCm39) L636P 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
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
R4645:Ap4b1 UTSW 3 103,728,765 (GRCm39) missense probably benign 0.32
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'- ACATTAGTCCATGTCCACAGC -3'
(R):5'- CCATTTCAGAAGGCAGAGTCC -3'

Sequencing Primer
(F):5'- GTCCATGTCCACAGCATTATATTTAC -3'
(R):5'- GGCAGAGTCCTACAATGCCTTC -3'
Posted On 2017-04-14