Mutagenetix > Incidental Mutations

Incidental Mutation 'R0076:Acpp'

16896

Institutional Source

Beutler Lab

Gene Symbol

Acpp

Ensembl Gene

ENSMUSG00000032561

Gene Name

acid phosphatase, prostate

Synonyms

A030005E02Rik, PAP

MMRRC Submission

038363-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

104288251-104337748 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 104324218 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150874 (fasta)

Gene Model

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

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: 120,373,685		probably benign	Het
Ada	T	A	2: 163,727,603		probably benign	Het
Ankrd17	T	A	5: 90,244,406	K1693*	probably null	Het
Arhgef38	T	A	3: 133,160,746	H210L	possibly damaging	Het
Car10	G	A	11: 93,490,597	E129K	possibly damaging	Het
Cask	A	G	X: 13,678,274		probably benign	Het
Cd19	T	C	7: 126,410,862	D406G	probably damaging	Het
Cd93	T	C	2: 148,442,136	D430G	probably benign	Het
Cds1	T	C	5: 101,817,840		probably benign	Het
Cerkl	A	T	2: 79,343,289	S259T	possibly damaging	Het
Cog8	T	C	8: 107,054,133	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,218,713	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,237,497		probably null	Het
Dcc	G	A	18: 71,321,046	Q1241*	probably null	Het
Dock3	A	C	9: 106,911,486		probably benign	Het
Dus1l	A	T	11: 120,792,808		probably benign	Het
Dvl2	G	A	11: 70,008,100	E438K	probably damaging	Het
Eif3g	A	G	9: 20,897,753	F85S	probably damaging	Het
Fam234b	A	G	6: 135,227,226	M456V	probably benign	Het
Fbxo47	G	A	11: 97,857,655		probably benign	Het
Fyb2	A	G	4: 104,945,464	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,148,636	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,353,132		noncoding transcript	Het
Gmfb	C	A	14: 46,817,455	A11S	probably benign	Het
Gpat4	G	A	8: 23,190,705		probably benign	Het
Ifitm6	T	A	7: 141,016,007	R124S	possibly damaging	Het
Il17rd	T	A	14: 27,094,854	L172Q	probably damaging	Het
Il4	A	T	11: 53,613,914	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,575,909	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,830,059		probably benign	Het
Maats1	G	A	16: 38,302,684	Q661*	probably null	Het
Mark1-ps1	T	A	17: 53,947,877		noncoding transcript	Het
Mndal	G	T	1: 173,874,447	C96*	probably null	Het
Mroh1	T	C	15: 76,451,140	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,485,442		probably benign	Het
Mthfsd	C	A	8: 121,098,739	V270F	probably benign	Het
Nbas	T	A	12: 13,324,336	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,478,359	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,715,518	Y131F	possibly damaging	Het
Plec	T	C	15: 76,191,414		probably benign	Het
Polr2b	T	A	5: 77,326,561	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,587,836	Q106*	probably null	Het
Ptprd	T	C	4: 75,947,039		probably benign	Het
Rad54b	G	A	4: 11,609,480		probably benign	Het
Rspo1	G	A	4: 124,991,397	R22Q	probably benign	Het
Scn7a	A	G	2: 66,714,037	V370A	probably benign	Het
Sec1	A	G	7: 45,678,891	V244A	probably damaging	Het
Serac1	A	G	17: 6,064,937		probably benign	Het
Slco2b1	A	T	7: 99,685,501	Y254*	probably null	Het
Steap3	G	A	1: 120,227,730	R500C	probably damaging	Het
Stk10	A	G	11: 32,603,722	T580A	probably benign	Het
Tpo	C	T	12: 30,104,023	G228R	probably damaging	Het
Tpx2	T	C	2: 152,893,683	F744L	probably damaging	Het
Ube3b	G	T	5: 114,408,217		probably null	Het
Vmn2r84	A	G	10: 130,394,193	S17P	probably damaging	Het
Vps13d	A	T	4: 145,164,694		probably benign	Het
Zfp532	T	A	18: 65,685,627	S851R	probably benign	Het
Zfp623	G	A	15: 75,947,209	E5K	probably benign	Het

Other mutations in Acpp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02580:Acpp	APN	9	104326948	missense	probably damaging	1.00
IGL02994:Acpp	APN	9	104309403	splice site	probably benign
IGL03069:Acpp	APN	9	104320005	missense	possibly damaging	0.78
R0076:Acpp	UTSW	9	104324218	splice site	probably benign
R0084:Acpp	UTSW	9	104314365	missense	probably benign	0.07
R0098:Acpp	UTSW	9	104319945	unclassified	probably null
R0119:Acpp	UTSW	9	104320002	missense	probably damaging	1.00
R0299:Acpp	UTSW	9	104320002	missense	probably damaging	1.00
R0362:Acpp	UTSW	9	104314427	missense	probably damaging	1.00
R0499:Acpp	UTSW	9	104320002	missense	probably damaging	1.00
R0514:Acpp	UTSW	9	104319978	missense	probably damaging	1.00
R0964:Acpp	UTSW	9	104326975	missense	possibly damaging	0.94
R1506:Acpp	UTSW	9	104324174	missense	probably damaging	1.00
R1624:Acpp	UTSW	9	104320001	missense	probably benign	0.39
R2019:Acpp	UTSW	9	104324702	missense	probably damaging	1.00
R3821:Acpp	UTSW	9	104324717	missense	probably damaging	0.99
R3822:Acpp	UTSW	9	104324717	missense	probably damaging	0.99
R4896:Acpp	UTSW	9	104306975	missense	probably damaging	1.00
R5084:Acpp	UTSW	9	104326917	missense	probably damaging	1.00
R5257:Acpp	UTSW	9	104309475	missense	probably benign	0.24
R5258:Acpp	UTSW	9	104309475	missense	probably benign	0.24
R5519:Acpp	UTSW	9	104291488	missense	probably damaging	1.00
R5795:Acpp	UTSW	9	104309489	missense	probably benign	0.04
R6909:Acpp	UTSW	9	104300965	missense	probably damaging	1.00
R7315:Acpp	UTSW	9	104316224	critical splice donor site	probably null
R7349:Acpp	UTSW	9	104291458	missense	probably benign	0.01
R7792:Acpp	UTSW	9	104326966	missense	probably damaging	1.00
Z1177:Acpp	UTSW	9	104314418	missense	probably damaging	1.00

Posted On

2013-01-20