Mutagenetix > Incidental Mutation

Incidental Mutation 'R5257:Acp3'

399789

Institutional Source

Beutler Lab

Gene Symbol

Acp3

Ensembl Gene

ENSMUSG00000032561

Gene Name

acid phosphatase 3

Synonyms

A030005E02Rik, Acpp, PAP

MMRRC Submission

042855-MU

Accession Numbers

Essential gene?

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

Stock #

R5257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104165439-104214921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104186674 bp (GRCm39)

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]

AlphaFold

Q8CE08

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: 9,199,684 (GRCm39)	T128S	possibly damaging	Het
Abca16	T	G	7: 120,035,992 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Asf1b	C	T	8: 84,695,896 (GRCm39)	T179I	probably benign	Het
Astn1	A	G	1: 158,440,102 (GRCm39)	K890R	probably damaging	Het
Card11	G	A	5: 140,862,180 (GRCm39)	P1039L	possibly damaging	Het
Cep43	T	C	17: 8,391,775 (GRCm39)	S152P	probably benign	Het
Chsy3	A	G	18: 59,542,866 (GRCm39)	E668G	possibly damaging	Het
Cnot8	T	A	11: 58,008,348 (GRCm39)	N271K	possibly damaging	Het
Dcaf5	G	T	12: 80,444,493 (GRCm39)	P200H	probably damaging	Het
Dkk4	C	A	8: 23,117,031 (GRCm39)	L215I	probably damaging	Het
Dnhd1	C	T	7: 105,323,244 (GRCm39)	T584I	probably benign	Het
Dock3	T	C	9: 106,874,124 (GRCm39)	Y449C	probably damaging	Het
Dsg1a	A	G	18: 20,453,988 (GRCm39)	D31G	probably damaging	Het
Foxi2	C	T	7: 135,012,256 (GRCm39)	T48M	probably benign	Het
Gdf3	T	C	6: 122,583,345 (GRCm39)	M341V	probably damaging	Het
Gm21738	A	G	14: 19,415,942 (GRCm38)	L199S	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Igkv4-80	T	A	6: 68,993,811 (GRCm39)	T27S	probably benign	Het
Ipo9	A	T	1: 135,313,173 (GRCm39)	C1019S	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Ktn1	T	A	14: 47,904,820 (GRCm39)	H199Q	probably benign	Het
Kyat3	A	G	3: 142,440,337 (GRCm39)	M354V	probably benign	Het
Lbhd1	A	G	19: 8,861,453 (GRCm39)		probably benign	Het
Llgl1	G	C	11: 60,602,389 (GRCm39)		probably null	Het
Lyzl6	T	A	11: 103,525,899 (GRCm39)	I74F	probably damaging	Het
Mfsd4b2	T	A	10: 39,798,017 (GRCm39)	M113L	probably benign	Het
Mslnl	T	C	17: 25,965,139 (GRCm39)	Y502H	probably benign	Het
Nckap5	A	G	1: 125,952,245 (GRCm39)	S1372P	probably damaging	Het
Nle1	T	C	11: 82,795,772 (GRCm39)	D225G	probably damaging	Het
Or5au1	T	C	14: 52,273,341 (GRCm39)	T76A	possibly damaging	Het
P2rx7	A	G	5: 122,819,066 (GRCm39)	E496G	probably damaging	Het
Padi4	C	T	4: 140,473,515 (GRCm39)	V641M	probably benign	Het
Phf11d	T	C	14: 59,590,160 (GRCm39)	I221V	possibly damaging	Het
Pla2g2c	G	A	4: 138,458,856 (GRCm39)		probably benign	Het
Prdm16	A	T	4: 154,451,671 (GRCm39)	D179E	possibly damaging	Het
Psca	A	T	15: 74,588,240 (GRCm39)	I56F	probably damaging	Het
Ptrhd1	A	G	12: 4,286,481 (GRCm39)	Y124C	probably damaging	Het
Sardh	T	C	2: 27,134,271 (GRCm39)	T82A	probably damaging	Het
Sesn1	C	T	10: 41,770,984 (GRCm39)	P172S	probably benign	Het
Setd4	T	C	16: 93,393,221 (GRCm39)	T57A	probably damaging	Het
Skint5	T	C	4: 113,434,859 (GRCm39)	T1037A	unknown	Het
Slc18a3	T	C	14: 32,185,777 (GRCm39)	D202G	probably damaging	Het
Slc44a5	G	A	3: 153,948,760 (GRCm39)	C176Y	probably damaging	Het
Slc6a5	G	A	7: 49,579,740 (GRCm39)	V373M	probably damaging	Het
Sorbs3	T	C	14: 70,422,483 (GRCm39)	I523V	probably benign	Het
Sspo	T	C	6: 48,453,428 (GRCm39)	V2872A	probably damaging	Het
Stard9	T	A	2: 120,529,824 (GRCm39)	L2027H	probably damaging	Het
Tex2	T	A	11: 106,458,585 (GRCm39)		probably benign	Het
Tfdp1	C	T	8: 13,419,529 (GRCm39)	T86M	possibly damaging	Het
Ttc6	A	T	12: 57,749,061 (GRCm39)	D1331V	possibly damaging	Het
Vps13b	A	G	15: 35,794,567 (GRCm39)	T2326A	possibly damaging	Het
Wnk1	A	G	6: 120,014,149 (GRCm39)	S149P	probably benign	Het
Zfp521	G	A	18: 13,980,035 (GRCm39)	S126F	probably damaging	Het
Zfp958	A	T	8: 4,678,456 (GRCm39)	E160D	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
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
R5795:Acp3	UTSW	9	104,186,688 (GRCm39)	missense	probably benign	0.04
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'- ACTGTGACTATCTTGTCATCGG -3'
(R):5'- ATCACACAGCTTGGCATGC -3'

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

Posted On

2016-07-06