Mutagenetix > Incidental Mutations

Incidental Mutation 'R5795:Acpp'

447182

Institutional Source

Beutler Lab

Gene Symbol

Acpp

Ensembl Gene

ENSMUSG00000032561

Gene Name

acid phosphatase, prostate

Synonyms

A030005E02Rik, PAP

MMRRC Submission

043386-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R5795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104288251-104337748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104309489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 261 (V261A)

Ref Sequence

ENSEMBL: ENSMUSP00000108209 (fasta)

Gene Model

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

AlphaFold

Q8CE08

Predicted Effect

probably benign
Transcript: ENSMUST00000062723
AA Change: V261A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000059889
Gene: ENSMUSG00000032561
AA Change: V261A

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: V261A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108209
Gene: ENSMUSG00000032561
AA Change: V261A

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor1	C	A	1: 134,424,903	N137K	probably damaging	Het
Ahnak	A	T	19: 9,012,382	K3677*	probably null	Het
Ankrd24	C	A	10: 81,645,103		probably benign	Het
Appl1	G	T	14: 26,942,816	P420Q	probably benign	Het
Bmp8b	C	A	4: 123,121,968	F249L	possibly damaging	Het
Brat1	G	T	5: 140,713,072	A275S	probably benign	Het
C5ar1	T	C	7: 16,248,394	K234E	possibly damaging	Het
Ccs	A	G	19: 4,833,339		probably null	Het
Chmp5	T	G	4: 40,950,562		probably null	Het
Chrna3	T	A	9: 55,015,268	T419S	probably benign	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 141,041,807		probably null	Het
Csf3	G	T	11: 98,702,027	C72F	probably damaging	Het
Dbndd1	A	G	8: 123,509,880	I83T	probably damaging	Het
Ercc6	A	G	14: 32,526,352	K287E	probably damaging	Het
F5	C	T	1: 164,152,009	T16I	probably benign	Het
Gif	A	G	19: 11,760,376	T384A	probably damaging	Het
Gm14085	T	C	2: 122,517,994	M274T	possibly damaging	Het
Hephl1	C	T	9: 15,069,760	G792E	probably damaging	Het
Hmmr	T	A	11: 40,721,906	D158V	probably damaging	Het
Hsd11b1	A	G	1: 193,240,632	S76P	possibly damaging	Het
Ilvbl	T	C	10: 78,577,144	S167P	probably benign	Het
Irf7	G	A	7: 141,265,116	P118L	probably damaging	Het
Lama1	A	G	17: 67,796,727	N1981S	probably benign	Het
Lrp4	A	G	2: 91,474,471	D224G	probably benign	Het
Mink1	T	C	11: 70,607,790	Y594H	possibly damaging	Het
Minpp1	G	A	19: 32,514,157	V412M	probably damaging	Het
Muc5b	G	A	7: 141,871,741	V4708M	possibly damaging	Het
Mycl	G	A	4: 122,996,622	E34K	probably damaging	Het
Oaf	T	A	9: 43,223,944	D179V	probably damaging	Het
Ogfod2	G	A	5: 124,114,761	G278D	probably damaging	Het
Olfr1448	A	G	19: 12,919,824	F162L	possibly damaging	Het
Olfr91	A	G	17: 37,093,769	L35P	probably damaging	Het
Paf1	T	G	7: 28,396,618	M250R	probably damaging	Het
Pcdh8	T	C	14: 79,770,980	T48A	possibly damaging	Het
Pdzph1	A	G	17: 58,885,867	V1096A	possibly damaging	Het
Polr3b	A	T	10: 84,628,252	E25D	probably benign	Het
Polr3b	T	C	10: 84,677,011	S586P	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slc31a2	T	C	4: 62,297,052	V112A	probably damaging	Het
Spire1	A	T	18: 67,495,195	S412T	probably benign	Het
Tanc1	A	G	2: 59,807,582	T876A	possibly damaging	Het
Tango6	T	A	8: 106,718,077	L538H	probably damaging	Het
Tas2r125	G	A	6: 132,909,658	G3D	probably damaging	Het
Tbc1d32	A	T	10: 56,215,062	M125K	possibly damaging	Het
Traf5	T	C	1: 191,999,846	S345G	probably benign	Het
Ush2a	A	T	1: 188,443,397	I1231F	probably benign	Het
Vmn2r104	G	T	17: 20,030,110	T633N	probably benign	Het
Vmn2r104	A	G	17: 20,030,282	S576P	possibly damaging	Het
Vmn2r105	A	T	17: 20,228,736	C60S	probably benign	Het
Zfp316	A	T	5: 143,262,839	D217E	unknown	Het
Zfp456	A	T	13: 67,366,920	D222E	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	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
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'- CAGTGTAACTTCCACCAGGG -3'
(R):5'- GATGCCTCTGAGTTTCAGCTC -3'

Sequencing Primer
(F):5'- TGTAACTTCCACCAGGGCAGAAAG -3'
(R):5'- TCTGAGTTTCAGCTCCACAAGAC -3'

Posted On

2016-12-15