Incidental Mutation 'R4500:Ap3s1'
ID 331794
Institutional Source Beutler Lab
Gene Symbol Ap3s1
Ensembl Gene ENSMUSG00000024480
Gene Name adaptor-related protein complex 3, sigma 1 subunit
Synonyms [s]3A
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4500 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 46874943-46923893 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46923067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 186 (V186A)
Ref Sequence ENSEMBL: ENSMUSP00000025357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025357] [ENSMUST00000224622] [ENSMUST00000226108]
AlphaFold Q9DCR2
Predicted Effect possibly damaging
Transcript: ENSMUST00000025357
AA Change: V186A

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025357
Gene: ENSMUSG00000024480
AA Change: V186A

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 148 1.4e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224622
Predicted Effect probably benign
Transcript: ENSMUST00000226108
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the sigma subunit of the heterotetrameric adaptor protein complex AP-3 which is involved in the formation of specialized lysosome-related compartments such as melanosomes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on chromosomes 1, 8, 16, 17 and X. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik T A 16: 88,556,429 (GRCm39) C214* probably null Het
Dennd4a G A 9: 64,817,405 (GRCm39) D1680N possibly damaging Het
Dpep2 T C 8: 106,712,114 (GRCm39) E282G probably benign Het
Duxf4 C T 10: 58,071,528 (GRCm39) A229T possibly damaging Het
Fam83d A G 2: 158,627,187 (GRCm39) E292G probably benign Het
Hook1 T C 4: 95,881,437 (GRCm39) probably null Het
Iqca1l T C 5: 24,753,275 (GRCm39) D459G possibly damaging Het
Klhl18 C T 9: 110,259,034 (GRCm39) G445S probably damaging Het
Or14a257 A T 7: 86,138,127 (GRCm39) C211S probably benign Het
Or51a43 A G 7: 103,717,402 (GRCm39) S279P probably damaging Het
Pias3 C T 3: 96,608,734 (GRCm39) R259W probably damaging Het
Prr11 T G 11: 86,989,533 (GRCm39) K279N possibly damaging Het
Sugp1 T C 8: 70,509,038 (GRCm39) S104P probably benign Het
Tmem239 A G 2: 130,249,077 (GRCm39) Y145C possibly damaging Het
Uchl4 T C 9: 64,143,163 (GRCm39) F215L possibly damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Usp7 C T 16: 8,513,759 (GRCm39) E785K possibly damaging Het
Vmn2r66 G A 7: 84,657,162 (GRCm39) A81V probably damaging Het
Other mutations in Ap3s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0087:Ap3s1 UTSW 18 46,891,106 (GRCm39) missense probably damaging 1.00
R0410:Ap3s1 UTSW 18 46,912,279 (GRCm39) missense probably benign 0.02
R2102:Ap3s1 UTSW 18 46,887,469 (GRCm39) missense possibly damaging 0.88
R4234:Ap3s1 UTSW 18 46,912,267 (GRCm39) missense probably benign 0.28
R4894:Ap3s1 UTSW 18 46,891,183 (GRCm39) critical splice donor site probably null
R5081:Ap3s1 UTSW 18 46,887,497 (GRCm39) missense probably benign 0.01
R6063:Ap3s1 UTSW 18 46,887,505 (GRCm39) missense probably benign 0.02
R6209:Ap3s1 UTSW 18 46,912,318 (GRCm39) missense probably benign 0.00
R6250:Ap3s1 UTSW 18 46,887,514 (GRCm39) missense probably damaging 1.00
R6401:Ap3s1 UTSW 18 46,891,074 (GRCm39) missense probably benign 0.00
R6575:Ap3s1 UTSW 18 46,887,448 (GRCm39) missense probably benign 0.00
R9413:Ap3s1 UTSW 18 46,887,531 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACTACCATCTGCTCTAAGCTTGTTATG -3'
(R):5'- TCACTGAGCAAGAAAAGCAACATTG -3'

Sequencing Primer
(F):5'- CTGCTCTAAGCTTGTTATGTGAAAC -3'
(R):5'- AGCAACATTGAACTTCCATACTG -3'
Posted On 2015-07-21