Mutagenetix > Incidental Mutation

Incidental Mutation 'R6469:Ap3d1'

520274

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

044602-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R6469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80542790-80578098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80547992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 900 (V900G)

Ref Sequence

ENSEMBL: ENSMUSP00000020420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020420] [ENSMUST00000218610]

AlphaFold

O54774

Predicted Effect

probably benign
Transcript: ENSMUST00000020420
AA Change: V900G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198
AA Change: V900G

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

probably benign
Transcript: ENSMUST00000218610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219816

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.3%

Validation Efficiency

100% (43/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	G	3: 137,772,736 (GRCm39)	S642A	probably damaging	Het
Aadacl2	A	T	3: 59,932,210 (GRCm39)	T242S	probably benign	Het
Adprh	T	C	16: 38,270,671 (GRCm39)	M45V	probably benign	Het
Akr1c13	T	C	13: 4,246,511 (GRCm39)		probably null	Het
Bak1	G	A	17: 27,240,293 (GRCm39)	R125C	probably damaging	Het
Bmpr1b	T	C	3: 141,562,222 (GRCm39)	T322A	possibly damaging	Het
Camsap3	T	A	8: 3,653,941 (GRCm39)	L521Q	possibly damaging	Het
Col6a6	A	T	9: 105,575,890 (GRCm39)	F2157I	probably damaging	Het
Dcun1d4	G	A	5: 73,691,957 (GRCm39)	M155I	probably damaging	Het
Diaph3	T	C	14: 86,893,974 (GRCm39)	S12G	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgb	A	T	3: 82,953,449 (GRCm39)	L107*	probably null	Het
Ganab	T	C	19: 8,879,996 (GRCm39)		probably null	Het
Gba1	C	T	3: 89,111,388 (GRCm39)	P51L	probably benign	Het
Glb1l2	T	C	9: 26,707,828 (GRCm39)	D60G	probably benign	Het
Idh3b	AG	AGCACCACAACTG	2: 130,121,593 (GRCm39)		probably null	Het
Itih2	A	G	2: 10,128,224 (GRCm39)	V159A	possibly damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Lrch1	C	T	14: 75,054,525 (GRCm39)	R323Q	probably damaging	Het
Lrrc30	T	C	17: 67,938,860 (GRCm39)	N240S	probably benign	Het
Mrgpra9	T	C	7: 46,884,854 (GRCm39)	Y271C	probably benign	Het
Ncor1	T	C	11: 62,234,128 (GRCm39)	H682R	probably damaging	Het
Or14j4	A	T	17: 37,921,204 (GRCm39)	V146E	probably damaging	Het
Pax9	C	A	12: 56,743,648 (GRCm39)	F98L	probably damaging	Het
Phlpp1	G	A	1: 106,214,833 (GRCm39)	R585Q	probably damaging	Het
Prkdc	A	G	16: 15,612,939 (GRCm39)	T3166A	probably benign	Het
Prr11	T	A	11: 86,988,003 (GRCm39)	Q300L	possibly damaging	Het
Rad50	T	A	11: 53,575,062 (GRCm39)	E620D	probably benign	Het
Rpl3	A	T	15: 79,967,546 (GRCm39)		probably null	Het
Sacs	G	T	14: 61,428,697 (GRCm39)	G252V	probably damaging	Het
Serpina3i	T	A	12: 104,232,776 (GRCm39)	V227E	probably damaging	Het
Smap2	GACTCTAC	GAC	4: 120,830,282 (GRCm39)		probably benign	Het
Snx19	T	C	9: 30,339,039 (GRCm39)	V59A	possibly damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tcstv2c	T	A	13: 120,616,349 (GRCm39)	W63R	probably damaging	Het
Tsc1	G	A	2: 28,561,898 (GRCm39)		probably null	Het
Vmn2r61	C	T	7: 41,915,283 (GRCm39)	Q77*	probably null	Het
Wdr72	A	G	9: 74,120,643 (GRCm39)	H954R	probably benign	Het
Zbtb21	T	C	16: 97,757,972 (GRCm39)	M20V	probably benign	Het
Zkscan16	A	T	4: 58,956,483 (GRCm39)	D255V	probably damaging	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
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
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'- CAGCTACCTCTTGAGGACAC -3'
(R):5'- CCTGTGAGACTCTGTGCTTG -3'

Sequencing Primer
(F):5'- TTGAGGACACCACTACTGTGATC -3'
(R):5'- TAGCCAGCAGGACGTTTGTC -3'

Posted On

2018-06-06