Mutagenetix > Incidental Mutation

Incidental Mutation 'R5795:Acp3'

447182

Institutional Source

Beutler Lab

Gene Symbol

Acp3

Ensembl Gene

ENSMUSG00000032561

Gene Name

acid phosphatase 3

Synonyms

A030005E02Rik, Acpp, PAP

MMRRC Submission

043386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104165439-104214921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104186688 bp (GRCm39)

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: 134,352,641 (GRCm39)	N137K	probably damaging	Het
Ahnak	A	T	19: 8,989,746 (GRCm39)	K3677*	probably null	Het
Ankrd24	C	A	10: 81,480,937 (GRCm39)		probably benign	Het
Appl1	G	T	14: 26,664,773 (GRCm39)	P420Q	probably benign	Het
Bmp8b	C	A	4: 123,015,761 (GRCm39)	F249L	possibly damaging	Het
Brat1	G	T	5: 140,698,827 (GRCm39)	A275S	probably benign	Het
C5ar1	T	C	7: 15,982,319 (GRCm39)	K234E	possibly damaging	Het
Cblif	A	G	19: 11,737,740 (GRCm39)	T384A	probably damaging	Het
Ccs	A	G	19: 4,883,367 (GRCm39)		probably null	Het
Chmp5	T	G	4: 40,950,562 (GRCm39)		probably null	Het
Chrna3	T	A	9: 54,922,552 (GRCm39)	T419S	probably benign	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Csf3	G	T	11: 98,592,853 (GRCm39)	C72F	probably damaging	Het
Dbndd1	A	G	8: 124,236,619 (GRCm39)	I83T	probably damaging	Het
Ercc6	A	G	14: 32,248,309 (GRCm39)	K287E	probably damaging	Het
F5	C	T	1: 163,979,578 (GRCm39)	T16I	probably benign	Het
Hephl1	C	T	9: 14,981,056 (GRCm39)	G792E	probably damaging	Het
Hmmr	T	A	11: 40,612,733 (GRCm39)	D158V	probably damaging	Het
Hsd11b1	A	G	1: 192,922,940 (GRCm39)	S76P	possibly damaging	Het
Ilvbl	T	C	10: 78,412,978 (GRCm39)	S167P	probably benign	Het
Irf7	G	A	7: 140,845,029 (GRCm39)	P118L	probably damaging	Het
Lama1	A	G	17: 68,103,722 (GRCm39)	N1981S	probably benign	Het
Lrp4	A	G	2: 91,304,816 (GRCm39)	D224G	probably benign	Het
Mink1	T	C	11: 70,498,616 (GRCm39)	Y594H	possibly damaging	Het
Minpp1	G	A	19: 32,491,557 (GRCm39)	V412M	probably damaging	Het
Muc5b	G	A	7: 141,425,478 (GRCm39)	V4708M	possibly damaging	Het
Mycl	G	A	4: 122,890,415 (GRCm39)	E34K	probably damaging	Het
Oaf	T	A	9: 43,135,241 (GRCm39)	D179V	probably damaging	Het
Ogfod2	G	A	5: 124,252,824 (GRCm39)	G278D	probably damaging	Het
Or2h1	A	G	17: 37,404,661 (GRCm39)	L35P	probably damaging	Het
Or5b12	A	G	19: 12,897,188 (GRCm39)	F162L	possibly damaging	Het
Paf1	T	G	7: 28,096,043 (GRCm39)	M250R	probably damaging	Het
Pcdh8	T	C	14: 80,008,420 (GRCm39)	T48A	possibly damaging	Het
Pdzph1	A	G	17: 59,192,862 (GRCm39)	V1096A	possibly damaging	Het
Polr3b	T	C	10: 84,512,875 (GRCm39)	S586P	probably damaging	Het
Polr3b	A	T	10: 84,464,116 (GRCm39)	E25D	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc28a2b	T	C	2: 122,348,475 (GRCm39)	M274T	possibly damaging	Het
Slc31a2	T	C	4: 62,215,289 (GRCm39)	V112A	probably damaging	Het
Spire1	A	T	18: 67,628,265 (GRCm39)	S412T	probably benign	Het
Tanc1	A	G	2: 59,637,926 (GRCm39)	T876A	possibly damaging	Het
Tango6	T	A	8: 107,444,709 (GRCm39)	L538H	probably damaging	Het
Tas2r125	G	A	6: 132,886,621 (GRCm39)	G3D	probably damaging	Het
Tbc1d32	A	T	10: 56,091,158 (GRCm39)	M125K	possibly damaging	Het
Traf5	T	C	1: 191,731,807 (GRCm39)	S345G	probably benign	Het
Ush2a	A	T	1: 188,175,594 (GRCm39)	I1231F	probably benign	Het
Vmn2r104	G	T	17: 20,250,372 (GRCm39)	T633N	probably benign	Het
Vmn2r104	A	G	17: 20,250,544 (GRCm39)	S576P	possibly damaging	Het
Vmn2r105	A	T	17: 20,448,998 (GRCm39)	C60S	probably benign	Het
Zfp316	A	T	5: 143,248,594 (GRCm39)	D217E	unknown	Het
Zfp456	A	T	13: 67,515,039 (GRCm39)	D222E	probably benign	Het

Other mutations in Acp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02580:Acp3	APN	9	104,204,147 (GRCm39)	missense	probably damaging	1.00
IGL02994:Acp3	APN	9	104,186,602 (GRCm39)	splice site	probably benign
IGL03069:Acp3	APN	9	104,197,204 (GRCm39)	missense	possibly damaging	0.78
R0076:Acp3	UTSW	9	104,201,417 (GRCm39)	splice site	probably benign
R0076:Acp3	UTSW	9	104,201,417 (GRCm39)	splice site	probably benign
R0084:Acp3	UTSW	9	104,191,564 (GRCm39)	missense	probably benign	0.07
R0098:Acp3	UTSW	9	104,197,144 (GRCm39)	splice site	probably null
R0119:Acp3	UTSW	9	104,197,201 (GRCm39)	missense	probably damaging	1.00
R0299:Acp3	UTSW	9	104,197,201 (GRCm39)	missense	probably damaging	1.00
R0362:Acp3	UTSW	9	104,191,626 (GRCm39)	missense	probably damaging	1.00
R0499:Acp3	UTSW	9	104,197,201 (GRCm39)	missense	probably damaging	1.00
R0514:Acp3	UTSW	9	104,197,177 (GRCm39)	missense	probably damaging	1.00
R0964:Acp3	UTSW	9	104,204,174 (GRCm39)	missense	possibly damaging	0.94
R1506:Acp3	UTSW	9	104,201,373 (GRCm39)	missense	probably damaging	1.00
R1624:Acp3	UTSW	9	104,197,200 (GRCm39)	missense	probably benign	0.39
R2019:Acp3	UTSW	9	104,201,901 (GRCm39)	missense	probably damaging	1.00
R3821:Acp3	UTSW	9	104,201,916 (GRCm39)	missense	probably damaging	0.99
R3822:Acp3	UTSW	9	104,201,916 (GRCm39)	missense	probably damaging	0.99
R4896:Acp3	UTSW	9	104,184,174 (GRCm39)	missense	probably damaging	1.00
R5084:Acp3	UTSW	9	104,204,116 (GRCm39)	missense	probably damaging	1.00
R5257:Acp3	UTSW	9	104,186,674 (GRCm39)	missense	probably benign	0.24
R5258:Acp3	UTSW	9	104,186,674 (GRCm39)	missense	probably benign	0.24
R5519:Acp3	UTSW	9	104,168,687 (GRCm39)	missense	probably damaging	1.00
R6909:Acp3	UTSW	9	104,178,164 (GRCm39)	missense	probably damaging	1.00
R7315:Acp3	UTSW	9	104,193,423 (GRCm39)	critical splice donor site	probably null
R7349:Acp3	UTSW	9	104,168,657 (GRCm39)	missense	probably benign	0.01
R7792:Acp3	UTSW	9	104,204,165 (GRCm39)	missense	probably damaging	1.00
R8355:Acp3	UTSW	9	104,204,174 (GRCm39)	missense	possibly damaging	0.94
R8455:Acp3	UTSW	9	104,204,174 (GRCm39)	missense	possibly damaging	0.94
R9556:Acp3	UTSW	9	104,197,178 (GRCm39)	missense	probably damaging	1.00
Z1177:Acp3	UTSW	9	104,191,617 (GRCm39)	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