Mutagenetix > Incidental Mutation

Incidental Mutation 'R5089:Acp2'

387620

Institutional Source

Beutler Lab

Gene Symbol

Acp2

Ensembl Gene

ENSMUSG00000002103

Gene Name

acid phosphatase 2, lysosomal

Synonyms

Acp-2, LAP

MMRRC Submission

042678-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R5089 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

91033230-91044443 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 91042267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002172] [ENSMUST00000028696] [ENSMUST00000111352] [ENSMUST00000150403]

AlphaFold

P24638

Predicted Effect

probably benign
Transcript: ENSMUST00000002172

SMART Domains

Protein: ENSMUSP00000002172
Gene: ENSMUSG00000002103

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:His_Phos_2	54	330	1.5e-35	PFAM
transmembrane domain	382	404	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000028696

SMART Domains

Protein: ENSMUSP00000028696
Gene: ENSMUSG00000002109

Domain	Start	End	E-Value	Type
low complexity region	48	69	N/A	INTRINSIC
WD40	100	140	1.48e-2	SMART
WD40	144	185	7.92e1	SMART
WD40	187	229	7.36e1	SMART
WD40	231	271	3.14e-6	SMART
WD40	278	316	3.55e-5	SMART
Blast:WD40	379	419	1e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000111352

SMART Domains

Protein: ENSMUSP00000106984
Gene: ENSMUSG00000002109

Domain	Start	End	E-Value	Type
WD40	8	49	7.92e1	SMART
WD40	51	93	7.36e1	SMART
WD40	95	135	3.14e-6	SMART
WD40	142	180	3.55e-5	SMART
Blast:WD40	243	283	3e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135927

Predicted Effect

probably benign
Transcript: ENSMUST00000150403

SMART Domains

Protein: ENSMUSP00000119144
Gene: ENSMUSG00000002103

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:His_Phos_2	32	159	4e-35	PFAM
Pfam:His_Phos_2	147	297	5.1e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152277

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. LAP-deficiencies in mice cause multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures. An enzymatically-inactive allele of LAP in mice exhibited a more severe phenotype than the null allele, and defects included cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous mutation of this gene result in skeletal defects and a small percentage of mutant animals exhibit tonic-clonic seizures. Mice with a missense mutation (Gly244Glu) are growth retarded and exhibit a disrupted cerebellum cytoarchitecture, an abnormal hair shaft, and skin malformations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 117,698,672 (GRCm39)	N145S	possibly damaging	Het
Adgrf2	G	A	17: 43,020,988 (GRCm39)	A612V	probably benign	Het
Bltp1	T	A	3: 37,041,651 (GRCm39)	D2676E	probably benign	Het
Cct3	T	G	3: 88,208,150 (GRCm39)	M46R	probably damaging	Het
Cdc123	T	C	2: 5,809,811 (GRCm39)	D200G	probably benign	Het
Cdh9	T	A	15: 16,778,362 (GRCm39)	F59Y	probably damaging	Het
Cluh	A	G	11: 74,551,198 (GRCm39)	E349G	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Crbn	T	C	6: 106,758,679 (GRCm39)	H381R	possibly damaging	Het
Crim1	A	G	17: 78,681,519 (GRCm39)	D991G	probably damaging	Het
Dhx16	A	T	17: 36,194,981 (GRCm39)	M503L	probably damaging	Het
Dthd1	A	G	5: 63,007,248 (GRCm39)	T650A	probably benign	Het
Etfa	T	A	9: 55,396,150 (GRCm39)	K139*	probably null	Het
Flnc	T	C	6: 29,447,812 (GRCm39)	I1205T	probably damaging	Het
Fzd6	T	A	15: 38,870,875 (GRCm39)	C32S	probably damaging	Het
Gm1110	T	A	9: 26,793,683 (GRCm39)	D515V	probably damaging	Het
Gm7676	T	C	8: 13,946,401 (GRCm39)		noncoding transcript	Het
Gpr157	T	C	4: 150,186,750 (GRCm39)	S293P	possibly damaging	Het
Hc	T	C	2: 34,914,902 (GRCm39)	D810G	probably benign	Het
Helz2	T	C	2: 180,876,942 (GRCm39)	H1184R	probably benign	Het
Hoxc5	A	T	15: 102,922,487 (GRCm39)		probably benign	Het
Iah1	C	T	12: 21,373,309 (GRCm39)	S196L	possibly damaging	Het
Il5	C	T	11: 53,612,655 (GRCm39)	T55I	possibly damaging	Het
Kras	T	C	6: 145,170,869 (GRCm39)	K169E	probably benign	Het
Larp1	C	A	11: 57,938,693 (GRCm39)	T492K	possibly damaging	Het
Lgr5	T	C	10: 115,314,328 (GRCm39)	D203G	probably damaging	Het
Lpcat2	G	A	8: 93,606,071 (GRCm39)	V241M	probably damaging	Het
Mpeg1	G	A	19: 12,440,361 (GRCm39)	M606I	probably benign	Het
Ms4a1	G	A	19: 11,236,176 (GRCm39)	P4S	probably benign	Het
Nat10	A	T	2: 103,587,488 (GRCm39)		probably benign	Het
Ncaph2	T	A	15: 89,240,148 (GRCm39)		probably null	Het
Nfat5	T	A	8: 108,078,070 (GRCm39)	V403D	probably damaging	Het
Or2y10	T	A	11: 49,455,240 (GRCm39)	M164K	possibly damaging	Het
Or4c109	A	G	2: 88,818,516 (GRCm39)	F10S	probably damaging	Het
Pax7	T	C	4: 139,557,576 (GRCm39)	H65R	probably damaging	Het
Phf20	C	A	2: 156,144,782 (GRCm39)	H797N	probably benign	Het
Pkhd1l1	T	A	15: 44,455,283 (GRCm39)	S4015T	probably benign	Het
Prdm5	C	T	6: 65,833,074 (GRCm39)	H148Y	probably benign	Het
Prpf8	A	G	11: 75,400,054 (GRCm39)		probably null	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Sardh	A	G	2: 27,129,625 (GRCm39)		probably null	Het
Serpinb6b	G	A	13: 33,162,133 (GRCm39)	E192K	probably benign	Het
Shfl	A	T	9: 20,780,212 (GRCm39)	M1L	probably benign	Het
Skor1	A	G	9: 63,053,205 (GRCm39)	S216P	probably damaging	Het
Slc51a	A	G	16: 32,296,364 (GRCm39)		probably null	Het
Smarcb1	T	C	10: 75,751,013 (GRCm39)	T74A	probably benign	Het
Spg11	A	T	2: 121,945,198 (GRCm39)	Y107*	probably null	Het
Spmip5	A	T	19: 58,774,678 (GRCm39)	L176H	probably damaging	Het
Stk25	T	A	1: 93,552,330 (GRCm39)	K350M	probably benign	Het
Syne1	C	T	10: 5,355,444 (GRCm39)	W379*	probably null	Het
Taco1	A	T	11: 105,960,437 (GRCm39)	E126V	probably benign	Het
Tbc1d12	T	A	19: 38,905,232 (GRCm39)	L649*	probably null	Het
Trpm3	G	A	19: 22,744,120 (GRCm39)	G238R	probably damaging	Het
Yy1	C	A	12: 108,759,663 (GRCm39)	Q109K	probably damaging	Het

Other mutations in Acp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02137:Acp2	APN	2	91,034,028 (GRCm39)	missense	probably damaging	1.00
IGL02251:Acp2	APN	2	91,038,678 (GRCm39)	splice site	probably null
IGL02445:Acp2	APN	2	91,036,606 (GRCm39)	missense	possibly damaging	0.63
IGL02952:Acp2	APN	2	91,038,788 (GRCm39)	unclassified	probably benign
IGL03272:Acp2	APN	2	91,034,578 (GRCm39)	splice site	probably benign
BB008:Acp2	UTSW	2	91,037,060 (GRCm39)	critical splice acceptor site	probably null
BB018:Acp2	UTSW	2	91,037,060 (GRCm39)	critical splice acceptor site	probably null
R0781:Acp2	UTSW	2	91,038,767 (GRCm39)	splice site	probably null
R1110:Acp2	UTSW	2	91,038,767 (GRCm39)	splice site	probably null
R2107:Acp2	UTSW	2	91,033,940 (GRCm39)	splice site	probably benign
R4382:Acp2	UTSW	2	91,038,454 (GRCm39)	missense	possibly damaging	0.80
R4726:Acp2	UTSW	2	91,034,622 (GRCm39)	missense	probably damaging	1.00
R4737:Acp2	UTSW	2	91,041,068 (GRCm39)	missense	probably benign	0.26
R4793:Acp2	UTSW	2	91,037,134 (GRCm39)	missense	probably benign	0.13
R4817:Acp2	UTSW	2	91,033,963 (GRCm39)	missense	probably damaging	1.00
R5092:Acp2	UTSW	2	91,038,391 (GRCm39)	missense	probably benign	0.19
R5468:Acp2	UTSW	2	91,036,443 (GRCm39)	missense	probably benign
R7847:Acp2	UTSW	2	91,041,077 (GRCm39)	missense	possibly damaging	0.67
R7931:Acp2	UTSW	2	91,037,060 (GRCm39)	critical splice acceptor site	probably null
R8735:Acp2	UTSW	2	91,034,651 (GRCm39)	missense	probably benign	0.00
R8877:Acp2	UTSW	2	91,036,129 (GRCm39)	missense	probably damaging	1.00
R9375:Acp2	UTSW	2	91,037,174 (GRCm39)	missense	probably benign	0.01
R9435:Acp2	UTSW	2	91,036,409 (GRCm39)	missense	probably damaging	1.00
R9438:Acp2	UTSW	2	91,033,339 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCTCTAGCATAAACTTGGC -3'
(R):5'- TGTTAGTTCCCCAAGACAGCC -3'

Sequencing Primer
(F):5'- CTAGATATAGCTGGGACCCTGAGC -3'
(R):5'- GACAGCCCCAACCTCTGAG -3'

Posted On

2016-06-06