Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Acp3'

16896

Institutional Source

Beutler Lab

Gene Symbol

Acp3

Ensembl Gene

ENSMUSG00000032561

Gene Name

acid phosphatase 3

Synonyms

A030005E02Rik, Acpp, PAP

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

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

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

104165439-104214921 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 104201417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150874 (fasta)

Gene Model

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

AlphaFold

Q8CE08

Predicted Effect

probably benign
Transcript: ENSMUST00000062723

SMART Domains

Protein: ENSMUSP00000059889
Gene: ENSMUSG00000032561

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 benign
Transcript: ENSMUST00000112590

SMART Domains

Protein: ENSMUSP00000108209
Gene: ENSMUSG00000032561

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 benign
Transcript: ENSMUST00000215852

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,972,908 (GRCm39)		probably benign	Het
Ada	T	A	2: 163,569,523 (GRCm39)		probably benign	Het
Ankrd17	T	A	5: 90,392,265 (GRCm39)	K1693*	probably null	Het
Arhgef38	T	A	3: 132,866,507 (GRCm39)	H210L	possibly damaging	Het
Car10	G	A	11: 93,381,423 (GRCm39)	E129K	possibly damaging	Het
Cask	A	G	X: 13,544,513 (GRCm39)		probably benign	Het
Cd19	T	C	7: 126,010,034 (GRCm39)	D406G	probably damaging	Het
Cd93	T	C	2: 148,284,056 (GRCm39)	D430G	probably benign	Het
Cds1	T	C	5: 101,965,706 (GRCm39)		probably benign	Het
Cerkl	A	T	2: 79,173,633 (GRCm39)	S259T	possibly damaging	Het
Cfap91	G	A	16: 38,123,046 (GRCm39)	Q661*	probably null	Het
Cog8	T	C	8: 107,780,765 (GRCm39)	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,268,713 (GRCm39)	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,276,578 (GRCm39)		probably null	Het
Dcc	G	A	18: 71,454,117 (GRCm39)	Q1241*	probably null	Het
Dock3	A	C	9: 106,788,685 (GRCm39)		probably benign	Het
Dus1l	A	T	11: 120,683,634 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,898,926 (GRCm39)	E438K	probably damaging	Het
Eif3g	A	G	9: 20,809,049 (GRCm39)	F85S	probably damaging	Het
Fam234b	A	G	6: 135,204,224 (GRCm39)	M456V	probably benign	Het
Fbxo47	G	A	11: 97,748,481 (GRCm39)		probably benign	Het
Fyb2	A	G	4: 104,802,661 (GRCm39)	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,039,462 (GRCm39)	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,260,448 (GRCm39)		noncoding transcript	Het
Gmfb	C	A	14: 47,054,912 (GRCm39)	A11S	probably benign	Het
Gpat4	G	A	8: 23,680,721 (GRCm39)		probably benign	Het
Ifitm6	T	A	7: 140,595,920 (GRCm39)	R124S	possibly damaging	Het
Il17rd	T	A	14: 26,816,811 (GRCm39)	L172Q	probably damaging	Het
Il4	A	T	11: 53,504,741 (GRCm39)	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,466,735 (GRCm39)	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,741,356 (GRCm39)		probably benign	Het
Mark1-ps1	T	A	17: 54,254,905 (GRCm39)		noncoding transcript	Het
Mndal	G	T	1: 173,702,013 (GRCm39)	C96*	probably null	Het
Mroh1	T	C	15: 76,335,340 (GRCm39)	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,376,268 (GRCm39)		probably benign	Het
Mthfsd	C	A	8: 121,825,478 (GRCm39)	V270F	probably benign	Het
Nbas	T	A	12: 13,374,337 (GRCm39)	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,611,412 (GRCm39)	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,533,382 (GRCm39)	Y131F	possibly damaging	Het
Plec	T	C	15: 76,075,614 (GRCm39)		probably benign	Het
Polr2b	T	A	5: 77,474,408 (GRCm39)	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,485,717 (GRCm39)	Q106*	probably null	Het
Ptprd	T	C	4: 75,865,276 (GRCm39)		probably benign	Het
Rad54b	G	A	4: 11,609,480 (GRCm39)		probably benign	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Scn7a	A	G	2: 66,544,381 (GRCm39)	V370A	probably benign	Het
Sec1	A	G	7: 45,328,315 (GRCm39)	V244A	probably damaging	Het
Serac1	A	G	17: 6,115,212 (GRCm39)		probably benign	Het
Slco2b1	A	T	7: 99,334,708 (GRCm39)	Y254*	probably null	Het
Steap3	G	A	1: 120,155,460 (GRCm39)	R500C	probably damaging	Het
Stk10	A	G	11: 32,553,722 (GRCm39)	T580A	probably benign	Het
Tpo	C	T	12: 30,154,022 (GRCm39)	G228R	probably damaging	Het
Tpx2	T	C	2: 152,735,603 (GRCm39)	F744L	probably damaging	Het
Ube3b	G	T	5: 114,546,278 (GRCm39)		probably null	Het
Vmn2r84	A	G	10: 130,230,062 (GRCm39)	S17P	probably damaging	Het
Vps13d	A	T	4: 144,891,264 (GRCm39)		probably benign	Het
Zfp532	T	A	18: 65,818,698 (GRCm39)	S851R	probably benign	Het
Zfp623	G	A	15: 75,819,058 (GRCm39)	E5K	probably benign	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
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
R0299: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

Posted On

2013-01-20