Incidental Mutation 'R2849:Ap3d1'
ID 251987
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 040442-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R2849 (G1)
Quality Score 137
Status Not validated
Chromosome 10
Chromosomal Location 80542790-80578098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 80577742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 28 (H28Q)
Ref Sequence ENSEMBL: ENSMUSP00000020420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020420]
AlphaFold O54774
Predicted Effect possibly damaging
Transcript: ENSMUST00000020420
AA Change: H28Q

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198
AA Change: H28Q

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 unknown
Transcript: ENSMUST00000219356
AA Change: H21Q
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Abca8a T C 11: 109,932,931 (GRCm39) D1231G probably damaging Het
Adcy7 A G 8: 89,054,021 (GRCm39) I1017V probably benign Het
Agpat2 A G 2: 26,487,251 (GRCm39) I109T probably damaging Het
Aldh9a1 G A 1: 167,180,197 (GRCm39) R97H probably damaging Het
Als2 G A 1: 59,245,697 (GRCm39) T593M probably damaging Het
Atxn1 A T 13: 45,720,175 (GRCm39) D573E probably damaging Het
Begain T A 12: 108,999,044 (GRCm39) M576L probably benign Het
Bod1l T C 5: 41,995,419 (GRCm39) N109S probably damaging Het
Boll A G 1: 55,385,532 (GRCm39) M131T possibly damaging Het
Celf2 T C 2: 6,608,936 (GRCm39) R282G probably damaging Het
Cers2 T C 3: 95,229,770 (GRCm39) F330L probably benign Het
Chst13 T C 6: 90,286,140 (GRCm39) D274G probably benign Het
Cimap1a A G 7: 140,429,182 (GRCm39) T156A probably benign Het
Cstdc5 T A 16: 36,187,814 (GRCm39) Q17L probably damaging Het
Dclk2 A G 3: 86,700,530 (GRCm39) V649A probably damaging Het
Deaf1 T C 7: 140,894,367 (GRCm39) *54W probably null Het
Fbf1 C T 11: 116,048,514 (GRCm39) probably null Het
Fbxo32 C T 15: 58,071,368 (GRCm39) S71N probably benign Het
Fbxo42 T A 4: 140,927,821 (GRCm39) N700K probably damaging Het
Fis1 T C 5: 136,991,971 (GRCm39) I55T possibly damaging Het
Fyco1 A T 9: 123,663,891 (GRCm39) L121* probably null Het
Gm2381 G A 7: 42,469,831 (GRCm39) P98S probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Gtf2ird1 G A 5: 134,387,861 (GRCm39) T946I probably damaging Het
Hmcn1 G T 1: 150,439,350 (GRCm39) Y5494* probably null Het
Josd2 A G 7: 44,118,397 (GRCm39) probably null Het
Lfng T A 5: 140,597,622 (GRCm39) D149E probably damaging Het
Lrp1 C T 10: 127,378,165 (GRCm39) A4052T probably damaging Het
Lrrtm3 T C 10: 63,924,810 (GRCm39) N119S probably damaging Het
Lypd6 C T 2: 50,055,664 (GRCm39) P38L probably damaging Het
Msl3l2 T C 10: 55,991,538 (GRCm39) C88R probably benign Het
Nsd1 A G 13: 55,361,505 (GRCm39) T158A probably damaging Het
Nudt22 A T 19: 6,970,852 (GRCm39) S239R probably benign Het
Or4g7 T C 2: 111,309,699 (GRCm39) M190T probably benign Het
Or52r1c A T 7: 102,735,319 (GRCm39) D193V probably damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Otop3 T C 11: 115,235,384 (GRCm39) F339L probably damaging Het
Pcdhga10 T A 18: 37,881,253 (GRCm39) V338E possibly damaging Het
Pcnx2 A G 8: 126,487,666 (GRCm39) F1779S probably damaging Het
Plxna4 T C 6: 32,162,467 (GRCm39) K1349E probably damaging Het
Poteg A T 8: 27,971,704 (GRCm39) N406I probably benign Het
Ppp4r4 T C 12: 103,573,192 (GRCm39) V697A probably benign Het
Ptpra C A 2: 130,386,919 (GRCm39) H603Q probably benign Het
Rnf10 T C 5: 115,387,171 (GRCm39) D439G probably benign Het
Rnf43 T A 11: 87,623,093 (GRCm39) N731K probably benign Het
Slc2a4 T A 11: 69,836,997 (GRCm39) N116Y probably damaging Het
Slc6a15 C A 10: 103,240,552 (GRCm39) H392N probably benign Het
Slco6d1 C T 1: 98,394,441 (GRCm39) T375I probably benign Het
Smpd4 A G 16: 17,460,076 (GRCm39) D436G probably damaging Het
Spata22 G A 11: 73,244,571 (GRCm39) W311* probably null Het
Syt3 G A 7: 44,042,866 (GRCm39) V383I probably benign Het
Tle6 T A 10: 81,430,235 (GRCm39) I306F probably damaging Het
Tox3 G A 8: 90,975,018 (GRCm39) Q538* probably null Het
Trim24 T A 6: 37,933,388 (GRCm39) S656T probably damaging Het
Trnau1ap C A 4: 132,049,045 (GRCm39) V119F possibly damaging Het
Vmn1r181 G T 7: 23,683,943 (GRCm39) S136I possibly damaging Het
Vmn1r82 T C 7: 12,039,333 (GRCm39) V202A probably damaging Het
Zfp607b G A 7: 27,401,819 (GRCm39) V92I probably benign Het
Zfp964 G C 8: 70,116,504 (GRCm39) C368S unknown Het
Zw10 A G 9: 48,968,941 (GRCm39) probably null 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
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'- TGGACAGCGCCTGTTTCAAG -3'
(R):5'- ATCTTGGCCGCCATTTGCAG -3'

Sequencing Primer
(F):5'- TTCAAGCTGCTGGGGGTAAAC -3'
(R):5'- ATTTGCAGCGGCCCTAAG -3'
Posted On 2014-12-04