Mutagenetix > Incidental Mutation

Incidental Mutation 'R4350:Ap3d1'

328474

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

041105-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R4350 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80542790-80578098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80555119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 402 (D402G)

Ref Sequence

ENSEMBL: ENSMUSP00000020420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020420]

AlphaFold

O54774

Predicted Effect

probably benign
Transcript: ENSMUST00000020420
AA Change: D402G

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198
AA Change: D402G

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,498,020 (GRCm39)		probably null	Het
Adamts1	T	A	16: 85,599,234 (GRCm39)	D122V	probably benign	Het
Ccdc88b	T	C	19: 6,827,640 (GRCm39)	E954G	probably damaging	Het
Cdh20	A	G	1: 104,906,814 (GRCm39)	D547G	probably damaging	Het
Cst13	A	G	2: 148,672,169 (GRCm39)	M115V	probably benign	Het
Ctr9	T	A	7: 110,648,525 (GRCm39)	Y722N	probably damaging	Het
Dvl3	T	C	16: 20,344,394 (GRCm39)	Y257H	possibly damaging	Het
Dzip1	T	C	14: 119,120,938 (GRCm39)	D673G	probably benign	Het
Enah	A	T	1: 181,749,985 (GRCm39)	S266T	possibly damaging	Het
Epha7	T	C	4: 28,950,393 (GRCm39)	V732A	probably damaging	Het
F13b	A	G	1: 139,444,036 (GRCm39)	I457V	probably benign	Het
Fam98a	A	G	17: 75,848,220 (GRCm39)	F165L	probably damaging	Het
Gcn1	G	T	5: 115,741,389 (GRCm39)	R1476L	probably damaging	Het
Gfy	T	C	7: 44,827,040 (GRCm39)	E352G	probably benign	Het
Inava	C	T	1: 136,153,946 (GRCm39)	V180I	probably damaging	Het
Lyn	G	A	4: 3,789,796 (GRCm39)	R443H	probably damaging	Het
Mecom	C	A	3: 30,020,887 (GRCm39)	V452L	possibly damaging	Het
Msh6	A	G	17: 88,292,012 (GRCm39)	S256G	probably damaging	Het
Ncor1	A	G	11: 62,301,644 (GRCm39)		probably null	Het
Pabpc4	C	T	4: 123,184,060 (GRCm39)	T191I	probably damaging	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Rchy1	T	C	5: 92,105,813 (GRCm39)	D45G	probably damaging	Het
Rftn2	T	C	1: 55,233,440 (GRCm39)	T372A	probably damaging	Het
Rlf	G	A	4: 121,006,293 (GRCm39)	P896S	probably benign	Het
Rnf31	AAC	A	14: 55,838,555 (GRCm39)		probably null	Het
Rpl7a-ps3	T	C	15: 36,308,283 (GRCm39)		noncoding transcript	Het
Sox7	A	G	14: 64,185,995 (GRCm39)	T344A	probably benign	Het
Sppl2b	T	C	10: 80,698,560 (GRCm39)	Y127H	probably benign	Het
Srsf12	T	C	4: 33,223,612 (GRCm39)	V37A	possibly damaging	Het
Sst	A	G	16: 23,708,565 (GRCm39)	S89P	probably damaging	Het
Svil	T	A	18: 5,118,154 (GRCm39)	C1705S	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubgcp3	T	C	8: 12,691,117 (GRCm39)	T474A	probably benign	Het
Tubgcp6	G	A	15: 88,988,198 (GRCm39)	P925L	probably benign	Het

Other mutations in Ap3d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AGATACCATTGCGTTGGGTG -3'
(R):5'- TGGGCTCATGAGTTCCATCTTG -3'

Sequencing Primer
(F):5'- CTACCAGGTGAGCACTGTCAAG -3'
(R):5'- CTCATGAGTTCCATCTTGGTTGTCAG -3'

Posted On

2015-07-07