Incidental Mutation 'R9259:Ap3d1'
ID 702110
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R9259 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80542790-80578098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80559661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 199 (V199E)
Ref Sequence ENSEMBL: ENSMUSP00000020420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020420]
AlphaFold O54774
Predicted Effect probably damaging
Transcript: ENSMUST00000020420
AA Change: V199E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198
AA Change: V199E

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 probably benign
Transcript: ENSMUST00000219356
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot6 A G 12: 84,155,816 (GRCm39) I255V possibly damaging Het
Adcy8 A T 15: 64,576,604 (GRCm39) I986N probably damaging Het
Agr2 T A 12: 36,053,863 (GRCm39) M164K probably damaging Het
Akap11 G A 14: 78,749,949 (GRCm39) H813Y Het
Alas1 A T 9: 106,118,835 (GRCm39) S195T probably benign Het
Aldoart1 T C 4: 72,770,680 (GRCm39) T43A probably benign Het
Alms1 A G 6: 85,644,873 (GRCm39) D2537G possibly damaging Het
Alpk3 A G 7: 80,743,302 (GRCm39) T1040A probably damaging Het
Ankrd16 T C 2: 11,784,532 (GRCm39) I120T probably damaging Het
Anks4b A G 7: 119,773,278 (GRCm39) E46G probably benign Het
Atp1a3 A G 7: 24,696,956 (GRCm39) S236P probably damaging Het
Atp5mc2 T A 15: 102,571,561 (GRCm39) N110I probably damaging Het
Cabin1 A G 10: 75,582,576 (GRCm39) M280T probably benign Het
Cdc5l T C 17: 45,736,817 (GRCm39) T134A possibly damaging Het
Clec4n C A 6: 123,212,424 (GRCm39) P80Q probably damaging Het
Clip3 A G 7: 29,998,375 (GRCm39) K274E probably benign Het
Cntrob A T 11: 69,211,665 (GRCm39) D186E possibly damaging Het
Cplane1 T C 15: 8,232,787 (GRCm39) V1102A possibly damaging Het
Dcun1d3 A G 7: 119,457,052 (GRCm39) V220A probably benign Het
Emsy A T 7: 98,242,757 (GRCm39) N1127K probably benign Het
Entpd2 C T 2: 25,288,614 (GRCm39) S206L probably damaging Het
Fgd4 T C 16: 16,295,325 (GRCm39) E218G probably damaging Het
Fkbp2 G T 19: 6,955,960 (GRCm39) Q82K probably benign Het
Gpr161 T C 1: 165,138,025 (GRCm39) Y204H probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gstt2 C T 10: 75,669,511 (GRCm39) D59N possibly damaging Het
Havcr1 A T 11: 46,661,318 (GRCm39) D206V probably damaging Het
Hoxb9 G A 11: 96,162,762 (GRCm39) G132D probably damaging Het
Ifi44 C T 3: 151,454,875 (GRCm39) V117M possibly damaging Het
Inhbe A G 10: 127,186,844 (GRCm39) F112S probably damaging Het
Iqgap2 A T 13: 95,766,561 (GRCm39) Y1481N probably damaging Het
Irak4 A T 15: 94,456,726 (GRCm39) H303L probably damaging Het
Kdm5d A G Y: 942,640 (GRCm39) E1435G possibly damaging Het
Kifc1 G T 17: 34,101,165 (GRCm39) T599K possibly damaging Het
Klhl38 T C 15: 58,186,471 (GRCm39) E86G probably benign Het
Mcub G C 3: 129,720,070 (GRCm39) T141R probably benign Het
Moxd2 A T 6: 40,860,969 (GRCm39) V274D probably damaging Het
Nol6 C T 4: 41,118,229 (GRCm39) V803M possibly damaging Het
Or8b51 C T 9: 38,569,642 (GRCm39) probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pbld1 A G 10: 62,897,436 (GRCm39) T46A possibly damaging Het
Peli3 T C 19: 4,984,486 (GRCm39) D192G probably benign Het
Perm1 C T 4: 156,303,607 (GRCm39) T717I probably benign Het
Pim1 G A 17: 29,710,181 (GRCm39) A22T probably benign Het
Pkp2 C T 16: 16,043,714 (GRCm39) P156L probably damaging Het
Ppwd1 G A 13: 104,359,612 (GRCm39) R130C probably damaging Het
Prdm16 C A 4: 154,430,525 (GRCm39) W321L possibly damaging Het
Ptprd T A 4: 75,990,200 (GRCm39) D504V probably damaging Het
Pusl1 T C 4: 155,975,639 (GRCm39) T65A probably damaging Het
Rtcb A G 10: 85,774,925 (GRCm39) I490T probably damaging Het
Sec31b G T 19: 44,505,855 (GRCm39) L967I probably damaging Het
Sec63 A C 10: 42,699,937 (GRCm39) M666L probably benign Het
Sh3rf1 G C 8: 61,806,838 (GRCm39) A379P probably benign Het
Slc7a12 T A 3: 14,546,376 (GRCm39) L174I probably damaging Het
Sptbn4 C T 7: 27,067,124 (GRCm39) S1935N possibly damaging Het
Susd6 A T 12: 80,898,030 (GRCm39) Q55L probably benign Het
Tecpr2 A G 12: 110,897,867 (GRCm39) E373G possibly damaging Het
Tent5c T C 3: 100,379,640 (GRCm39) Y372C probably damaging Het
Tm6sf2 A T 8: 70,530,585 (GRCm39) I222L probably benign Het
Tsc22d1 T A 14: 76,654,484 (GRCm39) V321E probably damaging Het
Tspoap1 A G 11: 87,670,350 (GRCm39) N172S Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vcan G A 13: 89,838,989 (GRCm39) S2185F probably damaging Het
Wapl G T 14: 34,463,052 (GRCm39) V1131L probably benign Het
Zfp658 A G 7: 43,224,280 (GRCm39) M852V 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
R0119:Ap3d1 UTSW 10 80,559,449 (GRCm39) splice site probably benign
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
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'- TCGATCAGCTTCTTGCCCAG -3'
(R):5'- GATAGGGAAGCCTCCTTTGCTG -3'

Sequencing Primer
(F):5'- TGCTGTGGTCACCAGGATGC -3'
(R):5'- GAAGCCTCCTTTGCTGTGATAGAC -3'
Posted On 2022-03-25