Incidental Mutation 'R2258:Ap3d1'
ID 243555
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 040258-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R2258 (G1)
Quality Score 195
Status Not validated
Chromosome 10
Chromosomal Location 80542790-80578098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80556966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 315 (S315P)
Ref Sequence ENSEMBL: ENSMUSP00000020420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020420]
AlphaFold O54774
Predicted Effect probably benign
Transcript: ENSMUST00000020420
AA Change: S315P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198
AA Change: S315P

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: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,207,267 (GRCm39) N308S possibly damaging Het
Acot5 A T 12: 84,122,643 (GRCm39) H409L possibly damaging Het
Ang4 A G 14: 52,001,955 (GRCm39) probably benign Het
Arhgap15 G A 2: 44,276,359 (GRCm39) G437R probably damaging Het
Cacna2d1 T C 5: 16,562,287 (GRCm39) C810R probably damaging Het
Capn5 A G 7: 97,785,082 (GRCm39) W131R probably damaging Het
Ccnj A G 19: 40,834,277 (GRCm39) Q292R probably benign Het
Cd177 A G 7: 24,455,661 (GRCm39) V287A possibly damaging Het
Cdk5r2 T C 1: 74,895,059 (GRCm39) L268P probably damaging Het
Cfap251 C G 5: 123,421,411 (GRCm39) probably null Het
Clrn2 A G 5: 45,611,304 (GRCm39) D51G probably benign Het
Cntd1 T C 11: 101,175,682 (GRCm39) S174P probably damaging Het
Col11a2 A G 17: 34,258,651 (GRCm39) H8R probably benign Het
Col17a1 C T 19: 47,669,816 (GRCm39) probably null Het
Cyp2a5 A G 7: 26,536,528 (GRCm39) D169G possibly damaging Het
Cyp2c37 A G 19: 39,984,303 (GRCm39) I264V possibly damaging Het
Cyp2j12 A G 4: 96,021,315 (GRCm39) I97T probably damaging Het
Dipk1b T C 2: 26,525,162 (GRCm39) L157P probably damaging Het
Eif3b T C 5: 140,413,258 (GRCm39) F354L possibly damaging Het
Eif4a3l1 A T 6: 136,305,559 (GRCm39) M7L probably benign Het
Entpd2 C T 2: 25,288,099 (GRCm39) P108S probably damaging Het
F5 T A 1: 164,019,750 (GRCm39) S742T probably damaging Het
Fam187a A G 11: 102,776,124 (GRCm39) probably benign Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Fndc3b G T 3: 27,494,309 (GRCm39) Q939K possibly damaging Het
Gja4 C A 4: 127,206,623 (GRCm39) D47Y probably damaging Het
Gm11565 T G 11: 99,805,844 (GRCm39) C79G possibly damaging Het
Gpbar1 T C 1: 74,318,164 (GRCm39) F136L probably benign Het
Gsn G A 2: 35,180,349 (GRCm39) G130E probably damaging Het
Hecw1 A T 13: 14,490,723 (GRCm39) D756E probably benign Het
Hrc C A 7: 44,986,105 (GRCm39) R419S possibly damaging Het
Inpp4a T A 1: 37,416,777 (GRCm39) S433T probably damaging Het
Ism2 C A 12: 87,326,848 (GRCm39) V320L possibly damaging Het
Krt8 G T 15: 101,907,257 (GRCm39) D275E probably benign Het
Lgalsl2 A G 7: 5,362,401 (GRCm39) M11V probably benign Het
Lyg2 A C 1: 37,948,077 (GRCm39) N132K probably benign Het
Lyst G A 13: 13,812,243 (GRCm39) R885Q probably benign Het
Marveld2 A G 13: 100,748,978 (GRCm39) S34P probably benign Het
Mcc C A 18: 44,608,203 (GRCm39) G355W probably damaging Het
Mllt6 T C 11: 97,555,802 (GRCm39) V44A probably damaging Het
Mrgpra3 A T 7: 47,239,842 (GRCm39) M28K probably benign Het
Ms4a15 A G 19: 10,962,159 (GRCm39) C47R probably benign Het
Muc5ac A G 7: 141,344,745 (GRCm39) N72S probably benign Het
Myo18b C T 5: 113,022,529 (GRCm39) probably benign Het
Nat8f4 A T 6: 85,878,207 (GRCm39) H105Q possibly damaging Het
Ncapd3 A G 9: 26,967,368 (GRCm39) D568G probably benign Het
Nptx1 T G 11: 119,434,142 (GRCm39) I315L probably benign Het
Nrap T C 19: 56,310,394 (GRCm39) R1534G possibly damaging Het
Nwd2 C A 5: 63,962,499 (GRCm39) N694K probably benign Het
Oas1c G A 5: 120,941,082 (GRCm39) A35V probably null Het
Or2d3b A G 7: 106,514,113 (GRCm39) K236R probably damaging Het
Or5bw2 A T 7: 6,573,022 (GRCm39) I11F probably damaging Het
Or5p58 C T 7: 107,694,402 (GRCm39) R125H possibly damaging Het
Or8d1b T C 9: 38,887,296 (GRCm39) V108A probably benign Het
Pate8 C A 9: 36,493,161 (GRCm39) V54L probably benign Het
Pde2a A T 7: 101,133,774 (GRCm39) D85V probably damaging Het
Plaat5 C T 19: 7,590,111 (GRCm39) R46C probably damaging Het
Polr1f A G 12: 33,483,587 (GRCm39) H113R probably damaging Het
Prex1 C T 2: 166,429,077 (GRCm39) V839I probably benign Het
Psmd3 T A 11: 98,581,790 (GRCm39) M305K probably benign Het
Rbm20 T C 19: 53,840,172 (GRCm39) S1054P probably benign Het
Rhox13 G C X: 37,210,221 (GRCm39) E19Q unknown Het
Ryr2 A G 13: 11,753,102 (GRCm39) F1740L possibly damaging Het
Sox1 C A 8: 12,446,927 (GRCm39) N189K possibly damaging Het
Spta1 C A 1: 174,001,907 (GRCm39) S12R possibly damaging Het
Stard13 A G 5: 150,963,196 (GRCm39) L971P probably damaging Het
Tigd4 T A 3: 84,501,600 (GRCm39) N172K probably benign Het
Tmt1a A T 15: 100,211,049 (GRCm39) I174F probably benign Het
Ttyh1 T C 7: 4,131,183 (GRCm39) V218A probably damaging Het
Unc45b T A 11: 82,808,625 (GRCm39) M237K probably benign Het
Vldlr A G 19: 27,215,786 (GRCm39) D220G probably damaging Het
Vps13c A G 9: 67,861,142 (GRCm39) N2891S probably benign Het
Wdr25 T A 12: 108,864,100 (GRCm39) S82T possibly damaging Het
Wnk4 C A 11: 101,165,861 (GRCm39) P796Q probably damaging Het
Xpo5 C T 17: 46,551,822 (GRCm39) Q1050* probably null Het
Zc3h15 G A 2: 83,487,360 (GRCm39) V60I probably benign Het
Zfp629 G A 7: 127,210,963 (GRCm39) T282M probably damaging Het
Zscan22 T G 7: 12,637,887 (GRCm39) V93G probably damaging 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
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'- AGTAGGTTGCTTCATGCTTCCC -3'
(R):5'- TTAGTCATGCTGAGCAGGGTC -3'

Sequencing Primer
(F):5'- AAGGCTAGCCAGACTGCG -3'
(R):5'- CAGGGTCCCCAGAGCAAAG -3'
Posted On 2014-10-16