Mutagenetix > Incidental Mutations

Incidental Mutation 'R5257:Acpp'

399789

Institutional Source

Beutler Lab

Gene Symbol

Acpp

Ensembl Gene

ENSMUSG00000032561

Gene Name

acid phosphatase, prostate

Synonyms

A030005E02Rik, PAP

MMRRC Submission

042855-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R5257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104288251-104337748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104309475 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 266 (I266V)

Ref Sequence

ENSEMBL: ENSMUSP00000108209 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000062723
AA Change: I266V

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000059889
Gene: ENSMUSG00000032561
AA Change: I266V

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: I266V

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108209
Gene: ENSMUSG00000032561
AA Change: I266V

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: ENSMUST00000128635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194330

Meta Mutation Damage Score

0.2456

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

97% (63/65)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,249,684	T128S	possibly damaging	Het
Abca16	T	G	7: 120,436,769		probably null	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Asf1b	C	T	8: 83,969,267	T179I	probably benign	Het
Astn1	A	G	1: 158,612,532	K890R	probably damaging	Het
Card11	G	A	5: 140,876,425	P1039L	possibly damaging	Het
Chsy3	A	G	18: 59,409,794	E668G	possibly damaging	Het
Cnot8	T	A	11: 58,117,522	N271K	possibly damaging	Het
Dcaf5	G	T	12: 80,397,719	P200H	probably damaging	Het
Dkk4	C	A	8: 22,627,015	L215I	probably damaging	Het
Dnhd1	C	T	7: 105,674,037	T584I	probably benign	Het
Dock3	T	C	9: 106,996,925	Y449C	probably damaging	Het
Dsg1a	A	G	18: 20,320,931	D31G	probably damaging	Het
Fgfr1op	T	C	17: 8,172,943	S152P	probably benign	Het
Foxi2	C	T	7: 135,410,527	T48M	probably benign	Het
Gdf3	T	C	6: 122,606,386	M341V	probably damaging	Het
Gm21738	A	G	14: 19,415,942	L199S	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Igkv4-80	T	A	6: 69,016,827	T27S	probably benign	Het
Ipo9	A	T	1: 135,385,435	C1019S	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Ktn1	T	A	14: 47,667,363	H199Q	probably benign	Het
Kyat3	A	G	3: 142,734,576	M354V	probably benign	Het
Lbhd1	A	G	19: 8,884,089		probably benign	Het
Llgl1	G	C	11: 60,711,563		probably null	Het
Lyzl6	T	A	11: 103,635,073	I74F	probably damaging	Het
Mfsd4b2	T	A	10: 39,922,021	M113L	probably benign	Het
Mslnl	T	C	17: 25,746,165	Y502H	probably benign	Het
Nckap5	A	G	1: 126,024,508	S1372P	probably damaging	Het
Nle1	T	C	11: 82,904,946	D225G	probably damaging	Het
Olfr221	T	C	14: 52,035,884	T76A	possibly damaging	Het
P2rx7	A	G	5: 122,681,003	E496G	probably damaging	Het
Padi4	C	T	4: 140,746,204	V641M	probably benign	Het
Phf11d	T	C	14: 59,352,711	I221V	possibly damaging	Het
Pla2g2c	G	A	4: 138,731,545		probably benign	Het
Prdm16	A	T	4: 154,367,214	D179E	possibly damaging	Het
Psca	A	T	15: 74,716,391	I56F	probably damaging	Het
Ptrhd1	A	G	12: 4,236,481	Y124C	probably damaging	Het
Sardh	T	C	2: 27,244,259	T82A	probably damaging	Het
Sesn1	C	T	10: 41,894,988	P172S	probably benign	Het
Setd4	T	C	16: 93,596,333	T57A	probably damaging	Het
Skint5	T	C	4: 113,577,662	T1037A	unknown	Het
Slc18a3	T	C	14: 32,463,820	D202G	probably damaging	Het
Slc44a5	G	A	3: 154,243,123	C176Y	probably damaging	Het
Slc6a5	G	A	7: 49,929,992	V373M	probably damaging	Het
Sorbs3	T	C	14: 70,185,034	I523V	probably benign	Het
Sspo	T	C	6: 48,476,494	V2872A	probably damaging	Het
Stard9	T	A	2: 120,699,343	L2027H	probably damaging	Het
Tex2	T	A	11: 106,567,759		probably benign	Het
Tfdp1	C	T	8: 13,369,529	T86M	possibly damaging	Het
Ttc6	A	T	12: 57,702,275	D1331V	possibly damaging	Het
Vps13b	A	G	15: 35,794,421	T2326A	possibly damaging	Het
Wnk1	A	G	6: 120,037,188	S149P	probably benign	Het
Zfp521	G	A	18: 13,846,978	S126F	probably damaging	Het
Zfp958	A	T	8: 4,628,456	E160D	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
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
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'- ACTGTGACTATCTTGTCATCGG -3'
(R):5'- ATCACACAGCTTGGCATGC -3'

Sequencing Primer
(F):5'- TTACAGTGTAACTTCCACCAGGG -3'
(R):5'- CATGCAGCAGATTATGAGCC -3'

Posted On

2016-07-06