Mutagenetix > Incidental Mutation

Incidental Mutation 'R0299:Acp3'

24797

Institutional Source

Beutler Lab

Gene Symbol

Acp3

Ensembl Gene

ENSMUSG00000032561

Gene Name

acid phosphatase 3

Synonyms

A030005E02Rik, Acpp, PAP

MMRRC Submission

038513-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R0299 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

104165439-104214921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104197201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 146 (E146G)

Ref Sequence

ENSEMBL: ENSMUSP00000150874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062723] [ENSMUST00000112590] [ENSMUST00000215852]

AlphaFold

Q8CE08

Predicted Effect

probably damaging
Transcript: ENSMUST00000062723
AA Change: E175G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059889
Gene: ENSMUSG00000032561
AA Change: E175G

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:His_Phos_2	33	331	3.8e-35	PFAM
transmembrane domain	382	404	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112590
AA Change: E175G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108209
Gene: ENSMUSG00000032561
AA Change: E175G

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:His_Phos_2	33	331	1.8e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128635

Predicted Effect

probably damaging
Transcript: ENSMUST00000215852
AA Change: E146G

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

Meta Mutation Damage Score

0.4499

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.3%
20x: 90.1%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is synthesized under androgen regulation and is secreted by the epithelial cells of the prostate gland. An alternatively spliced transcript variant encoding a longer isoform has been found for this gene. This isoform contains a transmembrane domain and is localized in the plasma membrane-endosomal-lysosomal pathway. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased thermal nociceptive threshold and mechanical allodynia in chronic inflammatory and nerve injury pain models. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,602,553 (GRCm39)	Q87*	probably null	Het
4933427I04Rik	A	T	4: 123,754,615 (GRCm39)	R176S	possibly damaging	Het
A2ml1	T	G	6: 128,530,195 (GRCm39)		probably benign	Het
Abca13	G	A	11: 9,248,076 (GRCm39)	E2608K	probably benign	Het
Adcy8	T	A	15: 64,588,015 (GRCm39)	D894V	probably damaging	Het
Ap4b1	T	C	3: 103,717,262 (GRCm39)	M1T	probably null	Het
Arg2	A	G	12: 79,194,386 (GRCm39)	D70G	probably damaging	Het
Atxn1	A	G	13: 45,720,645 (GRCm39)	S417P	probably damaging	Het
Btbd10	A	T	7: 112,929,085 (GRCm39)	S230T	possibly damaging	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Clec2h	T	C	6: 128,647,858 (GRCm39)	V69A	probably damaging	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Col16a1	TCCCC	TCCC	4: 129,952,111 (GRCm39)		probably null	Het
Degs1	A	T	1: 182,106,836 (GRCm39)	I141N	probably damaging	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Dock10	T	C	1: 80,514,646 (GRCm39)	R1424G	probably damaging	Het
Elp2	T	C	18: 24,767,466 (GRCm39)	I716T	probably benign	Het
Frk	T	C	10: 34,360,367 (GRCm39)		probably null	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gin1	T	A	1: 97,710,741 (GRCm39)	S141R	possibly damaging	Het
Gm11596	G	A	11: 99,683,770 (GRCm39)	P117S	unknown	Het
Gm6327	T	C	16: 12,579,061 (GRCm39)		noncoding transcript	Het
Hepacam2	A	G	6: 3,476,121 (GRCm39)	L268P	probably damaging	Het
Hps6	G	A	19: 45,992,671 (GRCm39)	V203M	probably damaging	Het
Hsd17b7	G	A	1: 169,787,363 (GRCm39)		probably benign	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Il1r2	T	A	1: 40,162,309 (GRCm39)	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097 (GRCm39)	V190L	probably benign	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Mecom	A	G	3: 30,034,560 (GRCm39)	L372P	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Muc2	C	T	7: 141,306,466 (GRCm39)	T296I	probably damaging	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nisch	A	G	14: 30,893,881 (GRCm39)	Y1231H	probably damaging	Het
Or10ak14	A	T	4: 118,611,732 (GRCm39)	M1K	probably null	Het
Or10ak9	A	G	4: 118,726,613 (GRCm39)	I212V	probably benign	Het
Pcsk6	T	C	7: 65,688,791 (GRCm39)	V820A	probably benign	Het
Pdcd10	T	C	3: 75,434,958 (GRCm39)	K111R	probably damaging	Het
Pdgfrb	T	A	18: 61,201,924 (GRCm39)	V496E	probably benign	Het
Pelo	A	T	13: 115,225,439 (GRCm39)	C40*	probably null	Het
Plxnc1	C	T	10: 94,685,683 (GRCm39)		probably null	Het
Ptpru	G	A	4: 131,530,698 (GRCm39)	Q519*	probably null	Het
Pzp	A	G	6: 128,472,293 (GRCm39)		probably benign	Het
Rad21	A	T	15: 51,828,426 (GRCm39)	D547E	probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Shtn1	T	C	19: 59,007,383 (GRCm39)	E289G	probably benign	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Slamf7	G	A	1: 171,476,499 (GRCm39)		probably benign	Het
Sppl3	T	A	5: 115,227,053 (GRCm39)		probably benign	Het
Suco	G	A	1: 161,681,379 (GRCm39)	T253I	probably benign	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tram2	T	C	1: 21,074,468 (GRCm39)	D238G	probably damaging	Het
Trpm3	T	C	19: 22,964,237 (GRCm39)	M1244T	possibly damaging	Het
Trub1	A	G	19: 57,472,057 (GRCm39)	T178A	possibly damaging	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Vmn1r25	T	A	6: 57,955,494 (GRCm39)	Q265L	probably damaging	Het
Zfp821	G	T	8: 110,450,862 (GRCm39)	R285L	probably damaging	Het

Other mutations in Acp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02580:Acp3	APN	9	104,204,147 (GRCm39)	missense	probably damaging	1.00
IGL02994:Acp3	APN	9	104,186,602 (GRCm39)	splice site	probably benign
IGL03069:Acp3	APN	9	104,197,204 (GRCm39)	missense	possibly damaging	0.78
R0076:Acp3	UTSW	9	104,201,417 (GRCm39)	splice site	probably benign
R0076:Acp3	UTSW	9	104,201,417 (GRCm39)	splice site	probably benign
R0084:Acp3	UTSW	9	104,191,564 (GRCm39)	missense	probably benign	0.07
R0098:Acp3	UTSW	9	104,197,144 (GRCm39)	splice site	probably null
R0119:Acp3	UTSW	9	104,197,201 (GRCm39)	missense	probably damaging	1.00
R0362:Acp3	UTSW	9	104,191,626 (GRCm39)	missense	probably damaging	1.00
R0499:Acp3	UTSW	9	104,197,201 (GRCm39)	missense	probably damaging	1.00
R0514:Acp3	UTSW	9	104,197,177 (GRCm39)	missense	probably damaging	1.00
R0964:Acp3	UTSW	9	104,204,174 (GRCm39)	missense	possibly damaging	0.94
R1506:Acp3	UTSW	9	104,201,373 (GRCm39)	missense	probably damaging	1.00
R1624:Acp3	UTSW	9	104,197,200 (GRCm39)	missense	probably benign	0.39
R2019:Acp3	UTSW	9	104,201,901 (GRCm39)	missense	probably damaging	1.00
R3821:Acp3	UTSW	9	104,201,916 (GRCm39)	missense	probably damaging	0.99
R3822:Acp3	UTSW	9	104,201,916 (GRCm39)	missense	probably damaging	0.99
R4896:Acp3	UTSW	9	104,184,174 (GRCm39)	missense	probably damaging	1.00
R5084:Acp3	UTSW	9	104,204,116 (GRCm39)	missense	probably damaging	1.00
R5257:Acp3	UTSW	9	104,186,674 (GRCm39)	missense	probably benign	0.24
R5258:Acp3	UTSW	9	104,186,674 (GRCm39)	missense	probably benign	0.24
R5519:Acp3	UTSW	9	104,168,687 (GRCm39)	missense	probably damaging	1.00
R5795:Acp3	UTSW	9	104,186,688 (GRCm39)	missense	probably benign	0.04
R6909:Acp3	UTSW	9	104,178,164 (GRCm39)	missense	probably damaging	1.00
R7315:Acp3	UTSW	9	104,193,423 (GRCm39)	critical splice donor site	probably null
R7349:Acp3	UTSW	9	104,168,657 (GRCm39)	missense	probably benign	0.01
R7792:Acp3	UTSW	9	104,204,165 (GRCm39)	missense	probably damaging	1.00
R8355:Acp3	UTSW	9	104,204,174 (GRCm39)	missense	possibly damaging	0.94
R8455:Acp3	UTSW	9	104,204,174 (GRCm39)	missense	possibly damaging	0.94
R9556:Acp3	UTSW	9	104,197,178 (GRCm39)	missense	probably damaging	1.00
Z1177:Acp3	UTSW	9	104,191,617 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGTTATCCTGAAAAGCGAGTCC -3'
(R):5'- TGAGGCTTAAAAGGTTGGCACCAAG -3'

Sequencing Primer
(F):5'- TGAAAAGCGAGTCCTTCCC -3'
(R):5'- AAGGTTGGCACCAAGTCTCTG -3'

Posted On

2013-04-16