Mutagenetix > Incidental Mutation

Incidental Mutation 'R4793:Acp2'

368739

Institutional Source

Beutler Lab

Gene Symbol

Acp2

Ensembl Gene

ENSMUSG00000002103

Gene Name

acid phosphatase 2, lysosomal

Synonyms

Acp-2, LAP

Accession Numbers

Essential gene?

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

Stock #

R4793 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

91033230-91044443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91037134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 205 (F205L)

Ref Sequence

ENSEMBL: ENSMUSP00000119144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002172] [ENSMUST00000111352] [ENSMUST00000150403] [ENSMUST00000155418]

AlphaFold

P24638

Predicted Effect

probably benign
Transcript: ENSMUST00000002172
AA Change: F238L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000002172
Gene: ENSMUSG00000002103
AA Change: F238L

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: 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: ENSMUST00000127643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136234

Predicted Effect

probably benign
Transcript: ENSMUST00000150403
AA Change: F205L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119144
Gene: ENSMUSG00000002103
AA Change: F205L

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

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

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (91/91)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,082,544 (GRCm39)	E1143V	probably benign	Het
Abi2	T	A	1: 60,448,963 (GRCm39)	M1K	probably null	Het
Adam17	T	C	12: 21,397,396 (GRCm39)	N219D	probably benign	Het
Aldh2	T	C	5: 121,707,042 (GRCm39)	S168G	probably damaging	Het
Arhgap15	A	T	2: 44,032,353 (GRCm39)	E312D	probably damaging	Het
Calm5	T	C	13: 3,904,401 (GRCm39)	S32P	probably benign	Het
Capn12	G	A	7: 28,592,094 (GRCm39)	D671N	probably benign	Het
Ccdc73	A	G	2: 104,848,127 (GRCm39)		probably null	Het
Cdc20	T	A	4: 118,294,261 (GRCm39)	I20F	probably benign	Het
Cdh23	A	T	10: 60,167,129 (GRCm39)	I1841N	probably damaging	Het
Cftr	T	C	6: 18,226,087 (GRCm39)	V345A	probably damaging	Het
Col15a1	T	C	4: 47,262,997 (GRCm39)	S550P	possibly damaging	Het
Col4a4	A	G	1: 82,516,820 (GRCm39)	Y133H	unknown	Het
Csmd1	A	G	8: 16,138,277 (GRCm39)	S1592P	probably damaging	Het
Cts6	T	A	13: 61,349,626 (GRCm39)	M56L	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dock5	A	G	14: 68,037,803 (GRCm39)	S947P	probably benign	Het
Dpysl2	G	T	14: 67,052,498 (GRCm39)	A339D	possibly damaging	Het
Ebf2	A	G	14: 67,647,531 (GRCm39)	D360G	probably damaging	Het
Ensa	T	C	3: 95,532,489 (GRCm39)		probably null	Het
Fap	C	A	2: 62,374,713 (GRCm39)	V229F	probably damaging	Het
Fbn1	C	A	2: 125,163,155 (GRCm39)	G2116*	probably null	Het
Frmd4b	A	T	6: 97,272,822 (GRCm39)	S857T	probably damaging	Het
Fsip2	T	A	2: 82,818,044 (GRCm39)	Y4592*	probably null	Het
Fubp1	T	A	3: 151,928,966 (GRCm39)	Y135N	possibly damaging	Het
Gdap2	T	C	3: 100,078,234 (GRCm39)	L66P	probably damaging	Het
Gm10257	T	C	13: 101,083,305 (GRCm39)		noncoding transcript	Het
Gm1758	A	T	16: 14,325,036 (GRCm39)		noncoding transcript	Het
Gna13	T	C	11: 109,254,455 (GRCm39)		probably benign	Het
H2bc13	T	C	13: 21,900,088 (GRCm39)	S76G	probably benign	Het
Heatr1	T	C	13: 12,446,718 (GRCm39)	I1689T	probably benign	Het
Hephl1	A	G	9: 15,009,286 (GRCm39)	I102T	probably benign	Het
Hltf	T	G	3: 20,118,114 (GRCm39)	Y121D	possibly damaging	Het
Hspg2	T	C	4: 137,256,784 (GRCm39)	V1509A	possibly damaging	Het
Ifitm5	G	T	7: 140,530,077 (GRCm39)	R16S	probably benign	Het
Il1rap	A	C	16: 26,513,984 (GRCm39)	D239A	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcna6	T	C	6: 126,715,519 (GRCm39)	I457V	probably damaging	Het
Kctd17	T	A	15: 78,317,224 (GRCm39)	L47Q	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc63	A	G	14: 75,363,601 (GRCm39)	S177P	possibly damaging	Het
Lrriq1	T	C	10: 103,006,327 (GRCm39)	D1266G	probably benign	Het
Map3k2	G	T	18: 32,361,203 (GRCm39)	M554I	probably damaging	Het
Mst1r	T	A	9: 107,797,124 (GRCm39)	V1331E	probably damaging	Het
Musk	T	C	4: 58,373,400 (GRCm39)	I775T	probably damaging	Het
Mybl2	A	G	2: 162,916,683 (GRCm39)	K7E	probably damaging	Het
Nf1	T	C	11: 79,338,398 (GRCm39)	S1137P	probably damaging	Het
Nlrp5	A	G	7: 23,117,055 (GRCm39)	I260V	probably damaging	Het
Or13c7	A	T	4: 43,854,323 (GRCm39)	N5Y	probably benign	Het
Or9g4	A	C	2: 85,504,842 (GRCm39)	Y218D	probably damaging	Het
Or9s23	G	T	1: 92,501,207 (GRCm39)	A105S	possibly damaging	Het
Pabpc1l	C	T	2: 163,869,542 (GRCm39)	A114V	possibly damaging	Het
Plac8l1	T	A	18: 42,311,973 (GRCm39)	I149F	possibly damaging	Het
Pou6f1	T	A	15: 100,476,293 (GRCm39)	N531I	probably damaging	Het
Prdm10	A	G	9: 31,264,701 (GRCm39)	Y712C	probably damaging	Het
Ptbp3	T	C	4: 59,514,297 (GRCm39)	T43A	possibly damaging	Het
Ptpn13	T	C	5: 103,730,644 (GRCm39)		probably null	Het
Rnf135	T	C	11: 80,087,775 (GRCm39)		probably null	Het
Rusf1	A	T	7: 127,887,374 (GRCm39)		probably benign	Het
Serpinb3d	A	G	1: 107,005,951 (GRCm39)	L379P	probably damaging	Het
Sh2d6	T	A	6: 72,494,581 (GRCm39)	T124S	probably benign	Het
Slc26a5	G	A	5: 22,042,992 (GRCm39)	P153S	probably damaging	Het
Slc5a7	A	G	17: 54,588,822 (GRCm39)	F275S	possibly damaging	Het
Snx14	A	G	9: 88,276,495 (GRCm39)	S606P	probably damaging	Het
Sphkap	A	T	1: 83,255,805 (GRCm39)	I648K	possibly damaging	Het
Spon2	T	C	5: 33,371,904 (GRCm39)	T301A	probably damaging	Het
Srpra	C	T	9: 35,124,447 (GRCm39)	T48I	probably benign	Het
Taar9	G	A	10: 23,985,408 (GRCm39)	P9S	probably benign	Het
Tacc1	A	T	8: 25,672,405 (GRCm39)	S274R	possibly damaging	Het
Tc2n	A	G	12: 101,617,376 (GRCm39)	S348P	possibly damaging	Het
Timd2	G	T	11: 46,578,008 (GRCm39)	T41K	probably damaging	Het
Tmem132a	T	A	19: 10,842,857 (GRCm39)	E206V	probably damaging	Het
Tmt1a3	A	G	15: 100,232,889 (GRCm39)	M27V	probably benign	Het
Tpi1	A	T	6: 124,789,544 (GRCm39)		probably benign	Het
Traf5	T	G	1: 191,729,765 (GRCm39)	T429P	probably benign	Het
Trav4-3	A	G	14: 53,836,615 (GRCm39)	S27G	possibly damaging	Het
Tubd1	T	C	11: 86,457,895 (GRCm39)	M462T	probably benign	Het
Ube4a	T	C	9: 44,860,120 (GRCm39)	D314G	probably damaging	Het
Utp25	T	A	1: 192,796,116 (GRCm39)	Q50L	probably null	Het
Vmn2r58	G	T	7: 41,514,495 (GRCm39)	T158K	probably damaging	Het
Vmn2r68	C	A	7: 84,883,648 (GRCm39)	M152I	probably benign	Het
Vmn2r91	A	G	17: 18,325,658 (GRCm39)	E92G	probably damaging	Het
Wdr20rt	T	C	12: 65,273,395 (GRCm39)	V113A	probably damaging	Het
Zfp729a	T	C	13: 67,768,546 (GRCm39)	H561R	probably damaging	Het
Zfp804a	T	A	2: 82,066,186 (GRCm39)	D52E	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
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'- AATGTCTGCCATGGTTGCAG -3'
(R):5'- GGCCGGGAGAATTATCTTAGGC -3'

Sequencing Primer
(F):5'- ATGGTTGCAGTGGCCCCTC -3'
(R):5'- CAGCCTAGTGTGTGAGAAGCTC -3'

Posted On

2016-02-04