Mutagenetix > Incidental Mutations

Incidental Mutation 'R0119:Acpp'

20986

Institutional Source

Beutler Lab

Gene Symbol

Acpp

Ensembl Gene

ENSMUSG00000032561

Gene Name

acid phosphatase, prostate

Synonyms

A030005E02Rik, PAP

MMRRC Submission

038405-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0119 (G1)

Quality Score

173

Status

Validated (trace)

Chromosome

Chromosomal Location

104288251-104337748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104320002 bp

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]

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: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.2%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,469,482	Q87*	probably null	Het
Abca13	G	A	11: 9,298,076	E2608K	probably benign	Het
Acad9	T	C	3: 36,085,415	V388A	probably damaging	Het
Adamts18	A	G	8: 113,774,953	I346T	possibly damaging	Het
Adcy8	T	A	15: 64,716,166	D894V	probably damaging	Het
Ap3d1	A	G	10: 80,723,615		probably benign	Het
Arg2	A	G	12: 79,147,612	D70G	probably damaging	Het
Cap1	A	T	4: 122,867,699	L130Q	probably damaging	Het
Carmil1	T	A	13: 24,082,020	N253I	probably damaging	Het
Caskin2	A	G	11: 115,802,427		probably benign	Het
Cd69	C	T	6: 129,270,062	S64N	probably benign	Het
Cd96	T	C	16: 46,038,579		probably benign	Het
Celf6	C	A	9: 59,602,878	T86K	probably benign	Het
Ces1c	A	T	8: 93,106,717		probably benign	Het
Ces1c	A	T	8: 93,107,610	L351M	probably benign	Het
Cnih3	T	A	1: 181,454,744		probably benign	Het
Col15a1	A	T	4: 47,262,950	D534V	probably damaging	Het
Cry1	A	G	10: 85,133,240		probably null	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Def8	G	A	8: 123,456,495	A278T	probably damaging	Het
Defb13	T	C	8: 21,946,861		probably benign	Het
Dnah1	C	T	14: 31,276,158	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,715,509	F1489L	possibly damaging	Het
Elmo3	T	C	8: 105,309,768	L668S	probably damaging	Het
Elp2	T	C	18: 24,634,409	I716T	probably benign	Het
Fshr	C	G	17: 89,009,285	S169T	probably benign	Het
Gm6327	T	C	16: 12,761,197		noncoding transcript	Het
Gm839	A	T	6: 89,212,380		noncoding transcript	Het
Gng5	T	A	3: 146,503,293	C39S	probably damaging	Het
Gpr55	C	T	1: 85,941,424	W145*	probably null	Het
Hdlbp	A	C	1: 93,421,337		probably benign	Het
Man2a2	G	T	7: 80,367,405	N305K	probably damaging	Het
Me2	A	G	18: 73,770,673	S575P	probably benign	Het
Mier3	T	C	13: 111,715,038	V490A	probably damaging	Het
Mpdz	T	C	4: 81,292,531	T1693A	probably benign	Het
Mss51	T	A	14: 20,484,688	Q338L	possibly damaging	Het
Muc4	A	T	16: 32,750,195		probably benign	Het
Mug2	T	A	6: 122,036,063	H311Q	probably benign	Het
Neto1	G	A	18: 86,461,320	R211Q	probably benign	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nisch	A	G	14: 31,171,924	Y1231H	probably damaging	Het
Obox3	T	A	7: 15,626,327		probably null	Het
Olfr394	C	T	11: 73,887,830	V181I	probably benign	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Pcdh15	T	C	10: 74,170,575	F95S	probably damaging	Het
Pcsk6	T	C	7: 66,039,043	V820A	probably benign	Het
Pde5a	A	G	3: 122,748,458	N199S	probably damaging	Het
Pdgfrb	T	A	18: 61,068,852	V496E	probably benign	Het
Per3	A	G	4: 151,024,548		probably benign	Het
Pip4k2b	A	T	11: 97,722,936		probably benign	Het
Podn	G	T	4: 108,021,594	L359I	probably damaging	Het
Rad21	A	T	15: 51,965,030	D547E	probably benign	Het
Rere	T	G	4: 150,615,322		probably benign	Het
Serpina1d	A	T	12: 103,765,757	L281Q	probably damaging	Het
Serpina9	T	C	12: 104,001,470	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,577,559	K57E	probably damaging	Het
Sh3bgrl3	A	T	4: 134,128,036	I33N	probably damaging	Het
Sik3	T	C	9: 46,208,740	M659T	possibly damaging	Het
Sppl3	T	A	5: 115,088,994		probably benign	Het
Tacc2	C	A	7: 130,621,875	Q116K	probably damaging	Het
Tecta	T	C	9: 42,352,063	D1409G	probably damaging	Het
Tnpo3	A	G	6: 29,568,922	V477A	possibly damaging	Het
Trim7	G	T	11: 48,849,712	R212L	probably damaging	Het
Trpm6	T	A	19: 18,832,593	C1118S	probably benign	Het
Ugcg	G	C	4: 59,217,036	V187L	possibly damaging	Het
Vmn1r27	A	G	6: 58,215,719	F100S	possibly damaging	Het
Zbtb18	A	G	1: 177,448,157	E361G	probably benign	Het
Zzef1	T	C	11: 72,821,851	V199A	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
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
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

Predicted Primers

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

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

Posted On

2013-04-11