Mutagenetix > Incidental Mutation

Incidental Mutation 'R9438:Acp2'

713351

Institutional Source

Beutler Lab

Gene Symbol

Acp2

Ensembl Gene

ENSMUSG00000002103

Gene Name

acid phosphatase 2, lysosomal

Synonyms

Acp-2, LAP

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91033230-91044443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91033339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 20 (M20I)

Ref Sequence

ENSEMBL: ENSMUSP00000002172 (fasta)

Gene Model

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

AlphaFold

P24638

Predicted Effect

probably benign
Transcript: ENSMUST00000002172
AA Change: M20I

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

SMART Domains

Protein: ENSMUSP00000002172
Gene: ENSMUSG00000002103
AA Change: M20I

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: ENSMUST00000150403
AA Change: M20I

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

SMART Domains

Protein: ENSMUSP00000119144
Gene: ENSMUSG00000002103
AA Change: M20I

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
AA Change: M20I

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

SMART Domains

Protein: ENSMUSP00000116030
Gene: ENSMUSG00000002103
AA Change: M20I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	C	T	7: 139,432,525 (GRCm39)	P121L	probably benign	Het
Arhgap39	C	A	15: 76,636,118 (GRCm39)	R39L	probably damaging	Het
Atp1b3	A	T	9: 96,215,631 (GRCm39)	N261K	possibly damaging	Het
Atp8b3	C	T	10: 80,361,409 (GRCm39)	A838T	probably damaging	Het
Cacng8	G	A	7: 3,463,919 (GRCm39)	S357N	unknown	Het
Calhm5	T	C	10: 33,972,049 (GRCm39)	M129V	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Cdk19	T	A	10: 40,352,176 (GRCm39)	D319E	probably damaging	Het
Chd6	A	G	2: 160,799,078 (GRCm39)	S2336P	probably benign	Het
Cntn1	G	A	15: 92,144,024 (GRCm39)		probably null	Het
Cts6	G	A	13: 61,350,069 (GRCm39)	T4I	probably benign	Het
Ddt	A	T	10: 75,607,332 (GRCm39)	I98N	probably damaging	Het
Diaph1	A	C	18: 38,026,443 (GRCm39)	V465G	unknown	Het
Dnah2	G	T	11: 69,364,220 (GRCm39)	D2064E	probably damaging	Het
Dnmt1	T	C	9: 20,827,190 (GRCm39)	N969D	probably benign	Het
Dot1l	T	A	10: 80,627,120 (GRCm39)	V1447E	probably benign	Het
Efs	T	A	14: 55,156,868 (GRCm39)	D389V		Het
Gbp11	T	A	5: 105,474,471 (GRCm39)	K402*	probably null	Het
Grm7	A	T	6: 111,231,077 (GRCm39)	D500V	possibly damaging	Het
Hecw1	T	C	13: 14,481,414 (GRCm39)	M439V	probably benign	Het
Ice1	A	G	13: 70,754,434 (GRCm39)	S551P	probably benign	Het
Igsf9b	T	C	9: 27,243,839 (GRCm39)	S779P	probably benign	Het
Itpr2	T	C	6: 146,068,166 (GRCm39)	N2437S	probably benign	Het
Kbtbd12	G	A	6: 88,591,040 (GRCm39)	Q391*	probably null	Het
Kcnma1	T	C	14: 23,417,653 (GRCm39)	I859V	probably benign	Het
Klri1	A	C	6: 129,675,879 (GRCm39)	D130E	probably benign	Het
Krt9	A	G	11: 100,079,824 (GRCm39)	Y523H	unknown	Het
Ldhc	G	T	7: 46,515,857 (GRCm39)	V51F	possibly damaging	Het
Macf1	G	T	4: 123,279,366 (GRCm39)	D5890E	probably benign	Het
Map4k4	A	G	1: 40,045,952 (GRCm39)	S613G	probably damaging	Het
Mrpl55	A	G	11: 59,096,581 (GRCm39)	D118G	probably damaging	Het
Muc16	T	C	9: 18,559,028 (GRCm39)	T2422A	unknown	Het
Nfkbib	T	A	7: 28,459,654 (GRCm39)	D219V	probably damaging	Het
Nsd2	A	G	5: 34,000,632 (GRCm39)	K50E	probably damaging	Het
Nudcd1	C	T	15: 44,269,321 (GRCm39)	R113H	probably benign	Het
Or5p55	A	T	7: 107,567,000 (GRCm39)	Y132F	probably damaging	Het
Or7e170	C	T	9: 19,795,083 (GRCm39)	E173K	probably benign	Het
Or7g19	T	A	9: 18,856,326 (GRCm39)	C127*	probably null	Het
Papln	A	T	12: 83,818,606 (GRCm39)	T63S	probably benign	Het
Pax4	T	C	6: 28,446,185 (GRCm39)	I103V	possibly damaging	Het
Pitpnm2	G	A	5: 124,269,342 (GRCm39)	H427Y	probably damaging	Het
Plk5	T	A	10: 80,193,867 (GRCm39)	V52E	probably damaging	Het
Prr23a4	G	A	9: 98,785,833 (GRCm39)	S166N	probably benign	Het
Rab44	A	G	17: 29,364,226 (GRCm39)	H600R	unknown	Het
Rbbp6	G	A	7: 122,599,456 (GRCm39)	V1256I		Het
Rexo1	T	A	10: 80,378,848 (GRCm39)	T1063S	possibly damaging	Het
Rp1l1	A	G	14: 64,265,574 (GRCm39)	R387G	possibly damaging	Het
Rufy3	T	C	5: 88,796,124 (GRCm39)	S603P	probably benign	Het
Setd1b	A	G	5: 123,285,944 (GRCm39)	H330R	unknown	Het
Strc	A	T	2: 121,198,647 (GRCm39)	W1415R	probably damaging	Het
Tcstv5	A	G	13: 120,411,363 (GRCm39)	L81P	probably benign	Het
Terf2	C	A	8: 107,803,504 (GRCm39)	A359S	probably benign	Het
Tmod1	A	G	4: 46,093,958 (GRCm39)	N223S	probably damaging	Het
Tram2	T	A	1: 21,075,834 (GRCm39)	I195F	possibly damaging	Het
Trap1	T	C	16: 3,883,131 (GRCm39)	Q148R	probably benign	Het
Tsks	C	T	7: 44,607,095 (GRCm39)	R143*	probably null	Het
Ttc14	T	A	3: 33,858,861 (GRCm39)	H373Q	probably damaging	Het
Ttn	T	C	2: 76,747,748 (GRCm39)	K4434E	probably benign	Het
Usp7	T	C	16: 8,522,833 (GRCm39)	D347G	probably benign	Het
Vps13d	T	C	4: 144,858,314 (GRCm39)	E2170G		Het
Xrn1	T	C	9: 95,893,287 (GRCm39)	I1001T	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCGTTCATCACCGCCAATCG -3'
(R):5'- TCCTTGAGAAGTGAGACCCC -3'

Sequencing Primer
(F):5'- AATCGCAAACCTTCTCCATTTG -3'
(R):5'- AAGTGAGACCCCGGCCC -3'

Posted On

2022-05-16