Mutagenetix > Incidental Mutation

Incidental Mutation 'R2107:Acp2'

232149

Institutional Source

Beutler Lab

Gene Symbol

Acp2

Ensembl Gene

ENSMUSG00000002103

Gene Name

acid phosphatase 2, lysosomal

Synonyms

Acp-2, LAP

MMRRC Submission

040111-MU

Accession Numbers

Essential gene?

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

Stock #

R2107 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91033230-91044443 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 91033940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002172] [ENSMUST00000150403] [ENSMUST00000155418]

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

noncoding transcript
Transcript: ENSMUST00000124131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136234

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

probably benign
Transcript: ENSMUST00000155418

SMART Domains

Protein: ENSMUSP00000116030
Gene: ENSMUSG00000002103

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:His_Phos_2	32	166	4e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157393

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,685,744 (GRCm39)	L364Q	probably damaging	Het
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Cblb	T	A	16: 51,973,079 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,887,808 (GRCm39)	D1557E	probably benign	Het
Cdc20	T	C	4: 118,290,710 (GRCm39)	Y430C	probably damaging	Het
Cdk5rap1	C	T	2: 154,195,166 (GRCm39)	D350N	probably benign	Het
Cgrrf1	T	A	14: 47,090,833 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,036,156 (GRCm39)	Y185*	probably null	Het
Cmtm8	A	T	9: 114,625,176 (GRCm39)	V85D	possibly damaging	Het
Cplx4	A	G	18: 66,089,964 (GRCm39)	S152P	probably benign	Het
Crmp1	G	T	5: 37,399,838 (GRCm39)	R117L	probably benign	Het
Csad	G	C	15: 102,087,469 (GRCm39)	L365V	probably null	Het
Dyrk1a	C	T	16: 94,487,386 (GRCm39)	T532M	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fan1	T	G	7: 64,016,536 (GRCm39)	R529S	probably damaging	Het
Fbln5	A	G	12: 101,737,528 (GRCm39)	W173R	probably damaging	Het
Gm9611	A	T	14: 42,116,611 (GRCm39)	N42K	possibly damaging	Het
Gnal	T	A	18: 67,346,649 (GRCm39)	L257Q	probably damaging	Het
Hint3	A	T	10: 30,494,252 (GRCm39)	F33I	probably damaging	Het
Ipcef1	A	G	10: 6,840,501 (GRCm39)	S403P	probably benign	Het
Kmt2c	T	C	5: 25,514,822 (GRCm39)	N3007S	probably benign	Het
Kpna3	T	C	14: 61,607,933 (GRCm39)	D424G	possibly damaging	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lamc2	A	G	1: 153,030,132 (GRCm39)		probably benign	Het
Lmtk3	G	T	7: 45,443,393 (GRCm39)	C692F	possibly damaging	Het
Lrguk	T	C	6: 34,039,296 (GRCm39)	M269T	probably benign	Het
Lrrc19	T	A	4: 94,527,531 (GRCm39)	T227S	probably benign	Het
Lrrk1	C	A	7: 65,929,030 (GRCm39)	D1201Y	probably damaging	Het
Matn2	T	A	15: 34,423,905 (GRCm39)	Y588N	probably damaging	Het
Mmp1b	A	G	9: 7,369,310 (GRCm39)	W346R	probably damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mprip	A	G	11: 59,660,717 (GRCm39)	K2166R	probably damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nedd9	A	T	13: 41,492,455 (GRCm39)	C12*	probably null	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nisch	C	T	14: 30,894,097 (GRCm39)	V172I	probably damaging	Het
Npy2r	A	T	3: 82,448,436 (GRCm39)		probably null	Het
Ogg1	C	A	6: 113,306,254 (GRCm39)	N150K	probably damaging	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or1p1	T	C	11: 74,180,216 (GRCm39)	V248A	probably damaging	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Pck1	G	C	2: 172,995,861 (GRCm39)	E120Q	probably benign	Het
Pde11a	A	G	2: 76,168,266 (GRCm39)	V229A	probably damaging	Het
Pias2	T	C	18: 77,185,167 (GRCm39)	F83L	probably benign	Het
Plagl1	A	C	10: 13,004,391 (GRCm39)		probably benign	Het
Plin3	A	T	17: 56,591,391 (GRCm39)	S130T	probably benign	Het
Rcc2	A	G	4: 140,448,496 (GRCm39)	Y515C	probably damaging	Het
Rgs12	A	G	5: 35,124,079 (GRCm39)	K621E	possibly damaging	Het
Rnf6	G	A	5: 146,148,091 (GRCm39)	T309I	probably damaging	Het
Rpusd3	G	T	6: 113,392,523 (GRCm39)	T335N	probably damaging	Het
Scn8a	A	T	15: 100,916,244 (GRCm39)	I1218F	probably damaging	Het
Slc23a1	T	A	18: 35,758,879 (GRCm39)	Q104L	possibly damaging	Het
Slc34a3	A	T	2: 25,120,999 (GRCm39)	V363D	probably damaging	Het
Smap1	A	T	1: 23,887,535 (GRCm39)	M248K	possibly damaging	Het
Sp1	A	G	15: 102,318,113 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,744 (GRCm39)		probably null	Het
Tbc1d1	T	G	5: 64,442,048 (GRCm39)	N689K	probably benign	Het
Tff2	T	C	17: 31,361,256 (GRCm39)	E99G	possibly damaging	Het
Tjp3	T	C	10: 81,116,378 (GRCm39)	N239D	possibly damaging	Het
Trim37	G	A	11: 87,050,651 (GRCm39)	R230Q	probably benign	Het
Ubr5	A	G	15: 37,989,546 (GRCm39)	M2090T	probably benign	Het
Unc13a	T	C	8: 72,108,895 (GRCm39)		probably null	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vav2	T	C	2: 27,157,315 (GRCm39)	E829G	probably damaging	Het
Vps35l	T	C	7: 118,393,762 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,353,533 (GRCm39)	D85E	probably benign	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly 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
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
R5089:Acp2	UTSW	2	91,042,267 (GRCm39)	unclassified	probably benign
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'- GAAGGCGTTGCTTTCACTAC -3'
(R):5'- AGCTAGTAGTTTAAGGAGCCCC -3'

Sequencing Primer
(F):5'- GAAGGCGTTGCTTTCACTACTCTTC -3'
(R):5'- AGTTTAAGGAGCCCCAGTTTC -3'

Posted On

2014-09-18