Incidental Mutation 'R0119:Ap3d1'
ID 20988
Institutional Source Beutler Lab
Gene Symbol Ap3d1
Ensembl Gene ENSMUSG00000020198
Gene Name adaptor-related protein complex 3, delta 1 subunit
Synonyms mBLVR1, Bolvr
MMRRC Submission 038405-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R0119 (G1)
Quality Score 214
Status Validated
Chromosome 10
Chromosomal Location 80542790-80578098 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 80559449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000020420]
AlphaFold O54774
Predicted Effect probably benign
Transcript: ENSMUST00000020420
SMART Domains Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198

DomainStartEndE-ValueType
Pfam:Adaptin_N 32 583 6.6e-153 PFAM
Pfam:Cnd1 130 292 2.1e-8 PFAM
low complexity region 629 642 N/A INTRINSIC
BLVR 660 803 5.3e-80 SMART
low complexity region 835 861 N/A INTRINSIC
low complexity region 871 881 N/A INTRINSIC
coiled coil region 910 933 N/A INTRINSIC
low complexity region 947 964 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219253
Predicted Effect probably benign
Transcript: ENSMUST00000219356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220183
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.2%
Validation Efficiency 99% (68/69)
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 a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mutant mice show coat and eye color dilution, platelet defects, lysosomal abnormalities, inner ear degeneration and neurological defects and model Hermansky-Pudlak storage pool deficiency syndrome. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
Abca13 G A 11: 9,248,076 (GRCm39) E2608K probably benign Het
Acad9 T C 3: 36,139,564 (GRCm39) V388A probably damaging Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adamts18 A G 8: 114,501,585 (GRCm39) I346T possibly 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
Cap1 A T 4: 122,761,492 (GRCm39) L130Q probably damaging Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Caskin2 A G 11: 115,693,253 (GRCm39) probably benign Het
Cd69 C T 6: 129,247,025 (GRCm39) S64N probably benign Het
Cd96 T C 16: 45,858,942 (GRCm39) probably benign Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Ces1c A T 8: 93,833,345 (GRCm39) probably benign Het
Ces1c A T 8: 93,834,238 (GRCm39) L351M probably benign Het
Cnih3 T A 1: 181,282,309 (GRCm39) probably benign Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Cry1 A G 10: 84,969,104 (GRCm39) probably null Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Defb13 T C 8: 22,436,877 (GRCm39) probably benign 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
Elmo3 T C 8: 106,036,400 (GRCm39) L668S probably damaging Het
Elp2 T C 18: 24,767,466 (GRCm39) I716T probably benign Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gm6327 T C 16: 12,579,061 (GRCm39) noncoding transcript Het
Gm839 A T 6: 89,189,362 (GRCm39) noncoding transcript Het
Gng5 T A 3: 146,209,048 (GRCm39) C39S probably damaging Het
Gpr55 C T 1: 85,869,146 (GRCm39) W145* probably null Het
Hdlbp A C 1: 93,349,059 (GRCm39) probably benign Het
Man2a2 G T 7: 80,017,153 (GRCm39) N305K probably damaging Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Mier3 T C 13: 111,851,572 (GRCm39) V490A probably damaging Het
Mpdz T C 4: 81,210,768 (GRCm39) T1693A probably benign Het
Mss51 T A 14: 20,534,756 (GRCm39) Q338L possibly damaging Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Mug2 T A 6: 122,013,022 (GRCm39) H311Q probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nisch A G 14: 30,893,881 (GRCm39) Y1231H probably damaging Het
Obox3 T A 7: 15,360,252 (GRCm39) probably null Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or1e34 C T 11: 73,778,656 (GRCm39) V181I probably benign Het
Pcdh15 T C 10: 74,006,407 (GRCm39) F95S probably damaging Het
Pcsk6 T C 7: 65,688,791 (GRCm39) V820A probably benign Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Pdgfrb T A 18: 61,201,924 (GRCm39) V496E probably benign Het
Per3 A G 4: 151,109,005 (GRCm39) probably benign Het
Pip4k2b A T 11: 97,613,762 (GRCm39) probably benign Het
Podn G T 4: 107,878,791 (GRCm39) L359I probably damaging Het
Rad21 A T 15: 51,828,426 (GRCm39) D547E probably benign Het
Rere T G 4: 150,699,779 (GRCm39) 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
Sh3bgrl3 A T 4: 133,855,347 (GRCm39) I33N probably damaging Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Sppl3 T A 5: 115,227,053 (GRCm39) probably benign Het
Tacc2 C A 7: 130,223,605 (GRCm39) Q116K probably damaging Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tnpo3 A G 6: 29,568,921 (GRCm39) V477A possibly damaging Het
Trim7 G T 11: 48,740,539 (GRCm39) R212L probably damaging Het
Trpm6 T A 19: 18,809,957 (GRCm39) C1118S probably benign Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Vmn1r27 A G 6: 58,192,704 (GRCm39) F100S possibly damaging Het
Zbtb18 A G 1: 177,275,723 (GRCm39) E361G probably benign Het
Zzef1 T C 11: 72,712,677 (GRCm39) V199A probably benign Het
Other mutations in Ap3d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Ap3d1 APN 10 80,577,813 (GRCm39) missense probably benign 0.00
IGL00827:Ap3d1 APN 10 80,549,393 (GRCm39) missense possibly damaging 0.92
IGL01668:Ap3d1 APN 10 80,554,993 (GRCm39) missense possibly damaging 0.95
IGL01934:Ap3d1 APN 10 80,545,092 (GRCm39) nonsense probably null
IGL03404:Ap3d1 APN 10 80,565,871 (GRCm39) missense probably damaging 1.00
christian UTSW 10 80,565,876 (GRCm39) missense probably damaging 1.00
Particle UTSW 10 80,546,328 (GRCm39) splice site probably null
vesicle UTSW 10 80,559,661 (GRCm39) missense probably damaging 1.00
R0197:Ap3d1 UTSW 10 80,565,876 (GRCm39) missense probably damaging 1.00
R0356:Ap3d1 UTSW 10 80,563,812 (GRCm39) missense probably damaging 1.00
R0372:Ap3d1 UTSW 10 80,559,401 (GRCm39) missense probably damaging 1.00
R0491:Ap3d1 UTSW 10 80,555,075 (GRCm39) missense probably damaging 1.00
R0636:Ap3d1 UTSW 10 80,555,216 (GRCm39) nonsense probably null
R0792:Ap3d1 UTSW 10 80,544,313 (GRCm39) missense probably benign
R0942:Ap3d1 UTSW 10 80,568,789 (GRCm39) splice site probably benign
R1015:Ap3d1 UTSW 10 80,552,323 (GRCm39) missense probably damaging 1.00
R1023:Ap3d1 UTSW 10 80,550,092 (GRCm39) missense probably damaging 1.00
R1170:Ap3d1 UTSW 10 80,568,674 (GRCm39) splice site probably benign
R1540:Ap3d1 UTSW 10 80,551,775 (GRCm39) missense probably benign 0.00
R1639:Ap3d1 UTSW 10 80,565,844 (GRCm39) missense probably damaging 0.98
R1664:Ap3d1 UTSW 10 80,553,571 (GRCm39) nonsense probably null
R1669:Ap3d1 UTSW 10 80,546,670 (GRCm39) unclassified probably benign
R1839:Ap3d1 UTSW 10 80,562,942 (GRCm39) missense probably damaging 1.00
R1940:Ap3d1 UTSW 10 80,545,607 (GRCm39) missense probably benign 0.03
R2081:Ap3d1 UTSW 10 80,568,770 (GRCm39) missense probably damaging 1.00
R2258:Ap3d1 UTSW 10 80,556,966 (GRCm39) missense probably benign 0.03
R2281:Ap3d1 UTSW 10 80,549,832 (GRCm39) missense probably damaging 0.96
R2398:Ap3d1 UTSW 10 80,555,006 (GRCm39) nonsense probably null
R2849:Ap3d1 UTSW 10 80,577,742 (GRCm39) missense possibly damaging 0.65
R3856:Ap3d1 UTSW 10 80,548,019 (GRCm39) missense probably benign
R4350:Ap3d1 UTSW 10 80,555,119 (GRCm39) missense probably benign 0.15
R4590:Ap3d1 UTSW 10 80,555,646 (GRCm39) nonsense probably null
R4782:Ap3d1 UTSW 10 80,557,420 (GRCm39) splice site probably null
R4785:Ap3d1 UTSW 10 80,548,612 (GRCm39) frame shift probably null
R4834:Ap3d1 UTSW 10 80,555,560 (GRCm39) missense probably damaging 1.00
R4864:Ap3d1 UTSW 10 80,548,612 (GRCm39) frame shift probably null
R5051:Ap3d1 UTSW 10 80,555,033 (GRCm39) missense probably damaging 1.00
R5109:Ap3d1 UTSW 10 80,545,284 (GRCm39) missense probably benign 0.11
R5219:Ap3d1 UTSW 10 80,545,651 (GRCm39) missense probably benign 0.03
R5220:Ap3d1 UTSW 10 80,563,001 (GRCm39) missense probably damaging 1.00
R5307:Ap3d1 UTSW 10 80,559,383 (GRCm39) missense probably benign 0.29
R5586:Ap3d1 UTSW 10 80,554,964 (GRCm39) missense possibly damaging 0.92
R5796:Ap3d1 UTSW 10 80,549,871 (GRCm39) missense possibly damaging 0.70
R5905:Ap3d1 UTSW 10 80,558,761 (GRCm39) missense possibly damaging 0.50
R6025:Ap3d1 UTSW 10 80,546,298 (GRCm39) missense probably benign 0.01
R6028:Ap3d1 UTSW 10 80,558,761 (GRCm39) missense possibly damaging 0.50
R6364:Ap3d1 UTSW 10 80,546,328 (GRCm39) splice site probably null
R6469:Ap3d1 UTSW 10 80,547,992 (GRCm39) missense probably benign
R6603:Ap3d1 UTSW 10 80,549,881 (GRCm39) missense probably benign 0.04
R6872:Ap3d1 UTSW 10 80,550,156 (GRCm39) nonsense probably null
R6887:Ap3d1 UTSW 10 80,559,532 (GRCm39) missense probably damaging 1.00
R7249:Ap3d1 UTSW 10 80,577,767 (GRCm39) missense probably damaging 1.00
R7316:Ap3d1 UTSW 10 80,553,693 (GRCm39) missense probably damaging 1.00
R7325:Ap3d1 UTSW 10 80,559,637 (GRCm39) missense probably damaging 1.00
R7395:Ap3d1 UTSW 10 80,566,716 (GRCm39) missense probably benign 0.11
R7405:Ap3d1 UTSW 10 80,577,734 (GRCm39) missense probably benign 0.16
R7425:Ap3d1 UTSW 10 80,557,426 (GRCm39) missense probably damaging 1.00
R7558:Ap3d1 UTSW 10 80,558,755 (GRCm39) missense possibly damaging 0.92
R7583:Ap3d1 UTSW 10 80,545,292 (GRCm39) missense probably benign 0.13
R7703:Ap3d1 UTSW 10 80,553,678 (GRCm39) missense probably damaging 1.00
R7964:Ap3d1 UTSW 10 80,565,891 (GRCm39) missense probably damaging 1.00
R8021:Ap3d1 UTSW 10 80,550,135 (GRCm39) missense probably benign 0.30
R8200:Ap3d1 UTSW 10 80,558,766 (GRCm39) nonsense probably null
R8314:Ap3d1 UTSW 10 80,559,373 (GRCm39) missense possibly damaging 0.91
R8356:Ap3d1 UTSW 10 80,568,737 (GRCm39) missense probably damaging 1.00
R8896:Ap3d1 UTSW 10 80,552,425 (GRCm39) missense probably benign 0.01
R8936:Ap3d1 UTSW 10 80,547,952 (GRCm39) missense probably benign 0.02
R9183:Ap3d1 UTSW 10 80,545,627 (GRCm39) missense probably null 0.06
R9209:Ap3d1 UTSW 10 80,554,918 (GRCm39) missense probably benign 0.04
R9259:Ap3d1 UTSW 10 80,559,661 (GRCm39) missense probably damaging 1.00
R9476:Ap3d1 UTSW 10 80,545,655 (GRCm39) missense probably benign 0.00
R9645:Ap3d1 UTSW 10 80,545,062 (GRCm39) missense probably benign
R9664:Ap3d1 UTSW 10 80,548,639 (GRCm39) missense possibly damaging 0.71
R9781:Ap3d1 UTSW 10 80,545,609 (GRCm39) missense possibly damaging 0.51
X0019:Ap3d1 UTSW 10 80,554,936 (GRCm39) missense probably damaging 1.00
X0026:Ap3d1 UTSW 10 80,556,981 (GRCm39) missense possibly damaging 0.46
Z1088:Ap3d1 UTSW 10 80,555,071 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GAAACAGAGCAGCCTCAGTCAGTG -3'
(R):5'- GTTGATGGAGACACCACCTTGGTAG -3'

Sequencing Primer
(F):5'- CAGCCTCAGTCAGTGAGACAAG -3'
(R):5'- ACACCACCTTGGTAGTAGAATG -3'
Posted On 2013-04-11