Incidental Mutation 'R6761:Ap3m1'
ID 531714
Institutional Source Beutler Lab
Gene Symbol Ap3m1
Ensembl Gene ENSMUSG00000021824
Gene Name adaptor-related protein complex 3, mu 1 subunit
Synonyms C78982, 1200013D09Rik
MMRRC Submission 044877-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R6761 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 21083810-21102603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21088096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 107 (M107V)
Ref Sequence ENSEMBL: ENSMUSP00000153649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022369] [ENSMUST00000022371] [ENSMUST00000126536] [ENSMUST00000130291] [ENSMUST00000154460] [ENSMUST00000224016]
AlphaFold Q9JKC8
Predicted Effect probably benign
Transcript: ENSMUST00000022369
SMART Domains Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823

DomainStartEndE-ValueType
Pfam:Vinculin 3 485 9e-203 PFAM
Pfam:Vinculin 475 1066 1.7e-301 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000022371
AA Change: M267V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022371
Gene: ENSMUSG00000021824
AA Change: M267V

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 96 1e-23 SMART
Pfam:Adap_comp_sub 111 364 9.1e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126536
SMART Domains Protein: ENSMUSP00000116046
Gene: ENSMUSG00000021824

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 91 9e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130291
SMART Domains Protein: ENSMUSP00000118259
Gene: ENSMUSG00000021824

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 138 9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154460
AA Change: M321V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117346
Gene: ENSMUSG00000021824
AA Change: M321V

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 136 1.8e-8 PFAM
Pfam:Adap_comp_sub 165 418 1e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224016
AA Change: M107V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.5%
Validation Efficiency 97% (34/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,878,845 (GRCm39) V61A probably benign Het
Actr3b C T 5: 26,030,137 (GRCm39) S67F probably damaging Het
Ccdc27 C T 4: 154,122,155 (GRCm39) G241D unknown Het
Cit T G 5: 116,046,734 (GRCm39) D382E probably damaging Het
Clec3b G T 9: 122,986,004 (GRCm39) G134V probably damaging Het
Cntnap2 T A 6: 47,026,307 (GRCm39) H44Q probably benign Het
Dst T C 1: 34,253,631 (GRCm39) S4300P probably damaging Het
Ebna1bp2 C T 4: 118,480,558 (GRCm39) R134* probably null Het
Efcab14 T C 4: 115,596,024 (GRCm39) S57P probably damaging Het
Exosc2 T C 2: 31,560,875 (GRCm39) probably null Het
Hfm1 T C 5: 107,043,145 (GRCm39) T630A probably damaging Het
Hkdc1 A T 10: 62,244,477 (GRCm39) I203N possibly damaging Het
Hltf T A 3: 20,137,996 (GRCm39) probably null Het
Igkv3-2 G T 6: 70,675,501 (GRCm39) probably benign Het
Mslnl A G 17: 25,965,047 (GRCm39) D471G probably damaging Het
Msmo1 A G 8: 65,172,061 (GRCm39) Y281H probably benign Het
Nid1 A G 13: 13,656,620 (GRCm39) T584A probably benign Het
Olfr908 A G 9: 38,427,561 (GRCm39) T78A probably damaging Het
Or52a24 C T 7: 103,381,691 (GRCm39) A186V probably damaging Het
Otoa G A 7: 120,721,173 (GRCm39) G396D probably damaging Het
Prss45 G T 9: 110,669,487 (GRCm39) A197S probably damaging Het
Prxl2a T A 14: 40,716,578 (GRCm39) H198L probably damaging Het
Rpap2 T A 5: 107,768,104 (GRCm39) I314N probably benign Het
Sash1 A G 10: 8,620,286 (GRCm39) M458T probably damaging Het
Slc44a5 A G 3: 153,945,714 (GRCm39) probably null Het
Sorbs2 T C 8: 46,225,651 (GRCm39) S254P probably damaging Het
Sycp2 T C 2: 178,016,144 (GRCm39) probably null Het
Tedc1 A G 12: 113,125,334 (GRCm39) D252G probably damaging Het
Uty T C Y: 1,186,790 (GRCm39) H145R probably damaging Homo
Vmn1r9 A G 6: 57,048,291 (GRCm39) Y122C probably benign Het
Wdfy4 T A 14: 32,817,908 (GRCm39) N1491Y possibly damaging Het
Wdr37 T C 13: 8,899,684 (GRCm39) T140A probably benign Het
Other mutations in Ap3m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02628:Ap3m1 APN 14 21,095,588 (GRCm39) nonsense probably null
IGL02815:Ap3m1 APN 14 21,086,750 (GRCm39) missense probably damaging 1.00
R0268:Ap3m1 UTSW 14 21,087,170 (GRCm39) splice site probably benign
R1780:Ap3m1 UTSW 14 21,091,138 (GRCm39) missense probably benign 0.20
R1961:Ap3m1 UTSW 14 21,091,083 (GRCm39) missense probably damaging 1.00
R2029:Ap3m1 UTSW 14 21,089,217 (GRCm39) missense possibly damaging 0.94
R3903:Ap3m1 UTSW 14 21,086,732 (GRCm39) missense probably null 1.00
R4837:Ap3m1 UTSW 14 21,087,225 (GRCm39) missense probably damaging 1.00
R4952:Ap3m1 UTSW 14 21,090,134 (GRCm39) missense probably benign 0.00
R5050:Ap3m1 UTSW 14 21,094,843 (GRCm39) missense probably benign 0.00
R5741:Ap3m1 UTSW 14 21,095,788 (GRCm39) missense possibly damaging 0.95
R7394:Ap3m1 UTSW 14 21,088,147 (GRCm39) missense probably benign 0.00
R7487:Ap3m1 UTSW 14 21,088,107 (GRCm39) missense probably benign
R7640:Ap3m1 UTSW 14 21,088,243 (GRCm39) missense probably benign 0.03
R9156:Ap3m1 UTSW 14 21,090,152 (GRCm39) missense probably damaging 0.99
R9331:Ap3m1 UTSW 14 21,095,666 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CTGAAAACCCTTGGCTAGAGTC -3'
(R):5'- ACATCTGGAGTTGTCCCATACC -3'

Sequencing Primer
(F):5'- TCTTGTTTAAGCAAGGCAAGGACC -3'
(R):5'- GGAGTTGTCCCATACCTTTCATAATG -3'
Posted On 2018-08-29