Mutagenetix > Incidental Mutation

Incidental Mutation 'R7316:Ap3d1'

567982

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

045413-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R7316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80542790-80578098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80553693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 518 (I518N)

Ref Sequence

ENSEMBL: ENSMUSP00000020420 (fasta)

Gene Model

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

AlphaFold

O54774

Predicted Effect

probably damaging
Transcript: ENSMUST00000020420
AA Change: I518N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198
AA Change: I518N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (93/94)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 89,969,020 (GRCm39)	M214I	probably benign	Het
Aadat	G	T	8: 60,979,668 (GRCm39)	G177C	probably damaging	Het
Adam4	T	C	12: 81,466,498 (GRCm39)	I708V	probably benign	Het
Aip	T	C	19: 4,164,793 (GRCm39)	N264S	probably benign	Het
Alox8	A	T	11: 69,077,064 (GRCm39)	D505E	probably benign	Het
Arf3	G	A	15: 98,638,874 (GRCm39)	Q128*	probably null	Het
Asph	A	G	4: 9,537,746 (GRCm39)	V344A	probably benign	Het
Birc6	A	T	17: 74,911,489 (GRCm39)	R1500S	probably damaging	Het
Bptf	G	A	11: 106,963,935 (GRCm39)	T1753I	probably damaging	Het
Bptf	A	T	11: 107,001,740 (GRCm39)	C457*	probably null	Het
Brpf3	T	A	17: 29,033,660 (GRCm39)	I568N	probably damaging	Het
Btnl4	G	C	17: 34,688,031 (GRCm39)	N582K	probably benign	Het
Camsap3	C	A	8: 3,654,648 (GRCm39)	P773T	possibly damaging	Het
Capsl	A	T	15: 9,461,888 (GRCm39)	I95L	probably benign	Het
Cd96	T	A	16: 45,890,016 (GRCm39)	M336L	probably benign	Het
Cdan1	A	T	2: 120,558,813 (GRCm39)		probably null	Het
Chd3	A	T	11: 69,236,394 (GRCm39)	L1939Q	probably damaging	Het
Cngb3	A	T	4: 19,425,599 (GRCm39)	Y469F	probably benign	Het
Cp	T	C	3: 20,026,916 (GRCm39)	L448P	probably damaging	Het
Csnk1g2	T	C	10: 80,475,687 (GRCm39)	V418A	possibly damaging	Het
Dag1	A	T	9: 108,086,701 (GRCm39)	S147T	probably benign	Het
Dnajc25	T	A	4: 59,017,693 (GRCm39)	Y117*	probably null	Het
Dpysl2	A	T	14: 67,100,044 (GRCm39)	M64K	possibly damaging	Het
Dus3l	A	G	17: 57,072,551 (GRCm39)	H38R	possibly damaging	Het
Eme2	G	A	17: 25,113,840 (GRCm39)	R62W	probably damaging	Het
Enox1	A	T	14: 77,958,298 (GRCm39)	M616L	probably benign	Het
Epb41l4b	T	A	4: 57,019,867 (GRCm39)	T708S	probably benign	Het
Fat2	A	T	11: 55,176,893 (GRCm39)	I1534N	probably damaging	Het
Fer1l5	A	G	1: 36,457,197 (GRCm39)	T1649A	probably benign	Het
Fmo9	A	G	1: 166,491,215 (GRCm39)	V421A	probably benign	Het
Fsip2	A	C	2: 82,820,035 (GRCm39)	Y5256S	possibly damaging	Het
Gapvd1	G	A	2: 34,594,681 (GRCm39)	L804F	probably damaging	Het
Garin1a	A	G	6: 29,286,101 (GRCm39)	M187V	probably benign	Het
Gen1	A	G	12: 11,291,470 (GRCm39)	V838A	probably benign	Het
Gnptab	A	T	10: 88,236,572 (GRCm39)	N59I	probably damaging	Het
Grm5	A	G	7: 87,624,473 (GRCm39)	T347A	probably benign	Het
Gsdmc3	T	C	15: 63,730,251 (GRCm39)	N438D	possibly damaging	Het
Hmcn1	A	G	1: 150,608,697 (GRCm39)	L1495S	probably damaging	Het
Ift70a1	A	T	2: 75,811,201 (GRCm39)	L294Q	probably damaging	Het
Islr2	T	C	9: 58,105,250 (GRCm39)	E714G	probably damaging	Het
Larp4	A	T	15: 99,898,898 (GRCm39)	M430L	probably benign	Het
Lpcat2b	A	G	5: 107,580,979 (GRCm39)	I103V	not run	Het
Lrguk	C	T	6: 34,080,191 (GRCm39)	S1142F	unknown	Het
Lrit2	G	T	14: 36,790,815 (GRCm39)	V165F	probably damaging	Het
Mast3	T	A	8: 71,232,432 (GRCm39)	I1182F	probably damaging	Het
Mcm6	C	T	1: 128,287,245 (GRCm39)	D20N	probably damaging	Het
Mief1	A	G	15: 80,133,598 (GRCm39)	I218M	probably damaging	Het
Mmp2	A	G	8: 93,567,038 (GRCm39)	T453A	probably benign	Het
Ms4a18	T	A	19: 10,979,360 (GRCm39)	S219C	probably damaging	Het
Myo5c	A	T	9: 75,176,920 (GRCm39)	T622S	probably benign	Het
Neb	A	T	2: 52,161,450 (GRCm39)	M2114K	possibly damaging	Het
Nemp1	T	A	10: 127,525,212 (GRCm39)	L122*	probably null	Het
Nkx2-1	T	C	12: 56,581,583 (GRCm39)	N88S	probably benign	Het
Nr2c2	T	A	6: 92,131,444 (GRCm39)	C202S	probably damaging	Het
Ntsr1	A	C	2: 180,142,545 (GRCm39)	D112A	probably damaging	Het
Or14j3	A	G	17: 37,901,026 (GRCm39)	S73P	probably damaging	Het
Or56a41	A	T	7: 104,740,107 (GRCm39)	H246Q	probably damaging	Het
Or6n2	A	T	1: 173,897,727 (GRCm39)	I288F	probably benign	Het
Osbp2	C	A	11: 3,676,431 (GRCm39)	R73L	probably damaging	Het
Pbp2	T	A	6: 135,286,830 (GRCm39)	E172D	probably damaging	Het
Pcdhgc3	T	C	18: 37,941,501 (GRCm39)	I634T	probably benign	Het
Pcnx1	T	C	12: 82,042,323 (GRCm39)	S38P	probably benign	Het
Phyh	A	T	2: 4,940,855 (GRCm39)	K252*	probably null	Het
Plcb3	C	T	19: 6,943,753 (GRCm39)		probably null	Het
Ppargc1b	T	C	18: 61,440,909 (GRCm39)	S670G	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Ptprc	T	C	1: 137,992,509 (GRCm39)	Y1067C	probably damaging	Het
Pwwp2b	A	C	7: 138,836,140 (GRCm39)	E527A	probably benign	Het
Pzp	T	C	6: 128,490,736 (GRCm39)	D409G	probably damaging	Het
Rbfox2	A	T	15: 77,016,929 (GRCm39)	N148K	possibly damaging	Het
Resf1	T	C	6: 149,228,136 (GRCm39)	L394P	probably damaging	Het
Rps24	T	C	14: 24,540,757 (GRCm39)		probably benign	Het
Slc35e4	T	C	11: 3,862,584 (GRCm39)	K202E	probably damaging	Het
Spata7	C	T	12: 98,624,871 (GRCm39)	R258W	probably damaging	Het
Spen	A	T	4: 141,204,365 (GRCm39)	S1421T	unknown	Het
Svep1	T	A	4: 58,068,763 (GRCm39)	I3008F	possibly damaging	Het
Tbc1d1	G	T	5: 64,492,620 (GRCm39)		probably null	Het
Thsd4	T	A	9: 59,894,642 (GRCm39)	H772L	probably benign	Het
Tle1	T	C	4: 72,036,529 (GRCm39)	I769V	probably benign	Het
Tm4sf19	T	A	16: 32,226,466 (GRCm39)	S127T	possibly damaging	Het
Tmprss9	C	A	10: 80,730,813 (GRCm39)	R780S	probably benign	Het
Tpp2	T	C	1: 44,009,591 (GRCm39)	V475A	probably benign	Het
Ttn	A	G	2: 76,692,509 (GRCm39)	V471A		Het
Ttn	A	T	2: 76,597,257 (GRCm39)	N19885K	probably damaging	Het
Tub	A	T	7: 108,629,378 (GRCm39)	T478S	possibly damaging	Het
Ube2q2l	T	C	6: 136,378,276 (GRCm39)	K185E	possibly damaging	Het
Vmn2r88	A	T	14: 51,651,712 (GRCm39)	Y342F		Het
Wdr18	C	A	10: 79,801,059 (GRCm39)	D157E	probably benign	Het
Xrra1	A	T	7: 99,525,423 (GRCm39)		probably null	Het
Zc3h4	G	C	7: 16,169,260 (GRCm39)	G1198A	unknown	Het
Zfp568	A	T	7: 29,721,681 (GRCm39)	I209F	possibly damaging	Het
Zfp787	C	A	7: 6,158,523 (GRCm39)		probably benign	Het
Zfp974	A	T	7: 27,609,863 (GRCm39)	Y621N	possibly damaging	Het
Zyg11b	A	G	4: 108,107,699 (GRCm39)	I493T	possibly 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
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
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'- ACAGCCACTTCCAGGTTAAGG -3'
(R):5'- TGTGCTTTAGCTGAGAAACCTAG -3'

Sequencing Primer
(F):5'- AGCCACTTCCAGGTTAAGGTTAGTC -3'
(R):5'- TTTAGCTGAGAAACCTAGCTCCC -3'

Posted On

2019-06-26