Mutagenetix > Incidental Mutations

Incidental Mutation 'R0084:Acpp'

19817

Institutional Source

Beutler Lab

Gene Symbol

Acpp

Ensembl Gene

ENSMUSG00000032561

Gene Name

acid phosphatase, prostate

Synonyms

A030005E02Rik, PAP

MMRRC Submission

038371-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R0084 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

104288251-104337748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104314365 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 241 (S241T)

Ref Sequence

ENSEMBL: ENSMUSP00000108209 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000062723
AA Change: S241T

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000059889
Gene: ENSMUSG00000032561
AA Change: S241T

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
AA Change: S241T

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108209
Gene: ENSMUSG00000032561
AA Change: S241T

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

Meta Mutation Damage Score

0.1920

Coding Region Coverage

1x: 99.2%
3x: 98.0%
10x: 94.5%
20x: 86.0%

Validation Efficiency

99% (77/78)

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
4931417E11Rik	A	T	6: 73,468,935	Y210*	probably null	Het
Abca8a	A	G	11: 110,036,597		probably benign	Het
Abcc9	A	G	6: 142,658,551	Y653H	probably damaging	Het
Acvr1	A	G	2: 58,458,883		probably null	Het
Adgb	T	C	10: 10,396,344	N832S	possibly damaging	Het
AI182371	A	G	2: 35,085,702		probably null	Het
Anapc1	G	A	2: 128,623,966		probably benign	Het
Apba1	T	C	19: 23,912,497	S420P	possibly damaging	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
BC025446	T	A	15: 75,217,775	M44K	probably benign	Het
Bpifb2	A	T	2: 153,891,091	M365L	probably benign	Het
Btnl9	A	T	11: 49,178,779	N224K	possibly damaging	Het
Cntn1	A	T	15: 92,317,917	I944L	probably benign	Het
Cpa3	T	C	3: 20,242,101		probably benign	Het
Dcaf11	C	T	14: 55,569,243	R468C	probably benign	Het
E4f1	T	C	17: 24,444,082	T750A	possibly damaging	Het
Ercc5	A	G	1: 44,175,976	K890E	possibly damaging	Het
Fbrsl1	A	G	5: 110,379,515	L262P	probably damaging	Het
Flnb	A	G	14: 7,935,979	D2273G	probably benign	Het
Gm14085	A	G	2: 122,522,833	Y498C	possibly damaging	Het
Gm9848	A	T	13: 113,108,242		noncoding transcript	Het
Hcrtr1	T	A	4: 130,137,266	H75L	possibly damaging	Het
Heatr9	A	T	11: 83,512,895		probably benign	Het
Htatip2	G	A	7: 49,759,672	G58D	probably damaging	Het
Lmntd1	G	A	6: 145,404,528	H234Y	unknown	Het
Map4k3	T	C	17: 80,655,914	K85E	possibly damaging	Het
Moxd2	T	C	6: 40,879,408	D510G	probably null	Het
Mpv17l2	A	T	8: 70,764,545		probably benign	Het
Nbeal2	A	G	9: 110,643,710		probably null	Het
Ncapd3	A	G	9: 27,056,111	D581G	probably damaging	Het
Ndufb5	T	C	3: 32,737,203	V33A	probably benign	Het
Olfr517	A	T	7: 108,868,800	M118K	probably damaging	Het
Osbpl1a	T	C	18: 12,757,612	T524A	probably benign	Het
Otogl	A	C	10: 107,901,341	S71A	probably damaging	Het
Ovol2	G	T	2: 144,305,888	N180K	probably damaging	Het
Pam	A	G	1: 97,896,049	V219A	probably benign	Het
Paox	C	T	7: 140,132,446	R197*	probably null	Het
Pax2	T	A	19: 44,818,435	Y290N	probably damaging	Het
Pik3ca	T	C	3: 32,462,788	M933T	possibly damaging	Het
Ppfia4	G	T	1: 134,299,426	R1124S	possibly damaging	Het
Prkch	T	C	12: 73,697,987	F258S	possibly damaging	Het
Rhob	G	A	12: 8,499,107	R176C	probably benign	Het
Sbf2	A	T	7: 110,442,366	I326N	possibly damaging	Het
Scgb2b2	A	T	7: 31,303,616	E45D	probably benign	Het
Scube3	T	A	17: 28,162,961	D320E	probably benign	Het
Serpina1f	A	G	12: 103,693,588	V145A	possibly damaging	Het
Slc6a5	A	C	7: 49,930,013	I380L	probably benign	Het
Spag16	A	G	1: 69,996,839	N342S	probably benign	Het
Spata16	A	G	3: 26,667,410	T27A	possibly damaging	Het
Spock3	A	C	8: 63,143,929	K89T	probably damaging	Het
Tbc1d1	T	C	5: 64,324,454	V795A	probably damaging	Het
Tirap	G	T	9: 35,189,162	H75Q	probably benign	Het
Tpk1	C	A	6: 43,346,829	V229L	possibly damaging	Het
Tshz2	A	G	2: 169,884,366	H294R	probably damaging	Het
Ttn	A	T	2: 76,872,699		probably benign	Het
Unc13d	C	T	11: 116,063,831	V984M	probably damaging	Het
Zbtb43	A	T	2: 33,453,984	Y373N	probably damaging	Het
Zfp646	T	A	7: 127,881,304	H884Q	possibly damaging	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
R0076:Acpp	UTSW	9	104324218	splice site	probably benign
R0098:Acpp	UTSW	9	104319945	splice site	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
R8355:Acpp	UTSW	9	104326975	missense	possibly damaging	0.94
R8455:Acpp	UTSW	9	104326975	missense	possibly damaging	0.94
Z1177:Acpp	UTSW	9	104314418	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAGGCGCTGTTTGTGCTAAG -3'
(R):5'- TTCAGGCTACAGCATCTGACCCTC -3'

Sequencing Primer
(F):5'- CTGCAAGACGATAATAaagtgatctg -3'
(R):5'- gcttactgcctttctccctc -3'

Posted On

2013-04-11