Mutagenetix > Incidental Mutation

Incidental Mutation 'R3821:Acp3'

274928

Institutional Source

Beutler Lab

Gene Symbol

Acp3

Ensembl Gene

ENSMUSG00000032561

Gene Name

acid phosphatase 3

Synonyms

A030005E02Rik, Acpp, PAP

MMRRC Submission

040883-MU

Accession Numbers

Essential gene?

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

Stock #

R3821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104165439-104214921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104201916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 76 (Q76K)

Ref Sequence

ENSEMBL: ENSMUSP00000108209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062723] [ENSMUST00000112590] [ENSMUST00000215852]

AlphaFold

Q8CE08

Predicted Effect

probably damaging
Transcript: ENSMUST00000062723
AA Change: Q76K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059889
Gene: ENSMUSG00000032561
AA Change: Q76K

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: Q76K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108209
Gene: ENSMUSG00000032561
AA Change: Q76K

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 benign
Transcript: ENSMUST00000215852

Meta Mutation Damage Score

0.4249

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	A	11: 101,301,971 (GRCm39)	I332F	probably damaging	Het
Abcd2	C	T	15: 91,058,908 (GRCm39)	G512D	probably damaging	Het
Adamtsl3	G	T	7: 82,255,687 (GRCm39)		probably benign	Het
Alox8	T	A	11: 69,077,308 (GRCm39)	I481F	probably damaging	Het
Anp32e	A	T	3: 95,842,181 (GRCm39)	I100L	probably benign	Het
Arpin	G	A	7: 79,579,408 (GRCm39)	R72C	probably damaging	Het
C6	A	G	15: 4,819,066 (GRCm39)	E466G	probably benign	Het
Ccdc13	C	A	9: 121,660,085 (GRCm39)	L76F	probably damaging	Het
Cd44	T	C	2: 102,731,738 (GRCm39)		probably null	Het
Clgn	A	G	8: 84,147,106 (GRCm39)	I353V	probably null	Het
Cnot6	A	T	11: 49,579,999 (GRCm39)	S98T	probably benign	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cramp1	G	A	17: 25,193,756 (GRCm39)	T908I	probably damaging	Het
Dnah9	C	A	11: 65,741,829 (GRCm39)		probably null	Het
Ehd3	A	T	17: 74,134,390 (GRCm39)	I250F	probably benign	Het
Eml2	T	C	7: 18,936,911 (GRCm39)	V555A	possibly damaging	Het
Erbb4	A	G	1: 68,345,072 (GRCm39)	S550P	probably damaging	Het
Fchsd1	A	G	18: 38,102,510 (GRCm39)		probably benign	Het
Flad1	T	A	3: 89,318,494 (GRCm39)	I20F	probably damaging	Het
Frem2	A	T	3: 53,559,836 (GRCm39)	L1557Q	probably damaging	Het
Gbf1	T	C	19: 46,253,246 (GRCm39)	I506T	probably damaging	Het
Gm20730	C	T	6: 43,058,656 (GRCm39)	S52N	probably benign	Het
Hoxc9	A	G	15: 102,890,596 (GRCm39)	K171R	probably benign	Het
Hscb	A	T	5: 110,984,194 (GRCm39)	D52E	probably damaging	Het
Htr1b	A	T	9: 81,514,487 (GRCm39)	I40N	probably benign	Het
Ido2	T	C	8: 25,023,771 (GRCm39)	I356V	probably benign	Het
Insyn2b	T	C	11: 34,353,007 (GRCm39)	S350P	probably benign	Het
Irs1	T	C	1: 82,267,770 (GRCm39)	T149A	probably benign	Het
Itgam	A	G	7: 127,711,458 (GRCm39)		probably null	Het
Itpr2	A	T	6: 146,319,224 (GRCm39)	H244Q	probably damaging	Het
Kcnma1	A	G	14: 23,417,679 (GRCm39)	I846T	probably damaging	Het
Kdm3a	A	T	6: 71,588,661 (GRCm39)	D449E	probably benign	Het
Lama1	C	A	17: 68,086,041 (GRCm39)		probably null	Het
Lhfpl4	A	G	6: 113,171,069 (GRCm39)	V39A	probably benign	Het
Marf1	A	T	16: 13,960,418 (GRCm39)	L542Q	probably damaging	Het
Mns1	A	G	9: 72,346,730 (GRCm39)	E71G	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrpl19	C	A	6: 81,938,987 (GRCm39)	E272*	probably null	Het
Ncoa6	T	A	2: 155,248,858 (GRCm39)	N1482I	probably damaging	Het
Neto2	C	A	8: 86,389,924 (GRCm39)	E180*	probably null	Het
Or2a51	A	G	6: 43,178,604 (GRCm39)	T9A	probably benign	Het
Pcdhga10	A	G	18: 37,880,995 (GRCm39)	N252S	probably damaging	Het
Pcdhgb7	C	A	18: 37,885,286 (GRCm39)	T152K	possibly damaging	Het
Ptprb	G	T	10: 116,185,979 (GRCm39)	R1678L	probably benign	Het
Ptprg	A	T	14: 12,226,375 (GRCm38)	I1323L	probably benign	Het
Rab40b	T	A	11: 121,248,874 (GRCm39)	N127I	probably damaging	Het
Scn10a	A	G	9: 119,467,699 (GRCm39)	C814R	probably benign	Het
Sdhb	C	T	4: 140,706,399 (GRCm39)	R279*	probably null	Het
Shroom4	C	T	X: 6,536,276 (GRCm39)	Q1165*	probably null	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Slc20a2	A	G	8: 23,028,918 (GRCm39)	I130V	probably benign	Het
Slitrk3	T	C	3: 72,956,549 (GRCm39)	Y741C	possibly damaging	Het
Tas1r1	G	T	4: 152,119,138 (GRCm39)	L144I	probably benign	Het
Tenm2	A	T	11: 35,915,147 (GRCm39)	I2129N	probably damaging	Het
Tmbim1	A	G	1: 74,333,089 (GRCm39)	V92A	probably damaging	Het
Tmem131	T	A	1: 36,847,477 (GRCm39)	H1207L	probably damaging	Het
Tmem209	G	T	6: 30,505,959 (GRCm39)	P116T	probably damaging	Het
Tmem8b	C	A	4: 43,689,745 (GRCm39)	H800N	probably damaging	Het
Tnfsf8	A	G	4: 63,779,127 (GRCm39)	V57A	probably benign	Het
Topaz1	A	G	9: 122,626,848 (GRCm39)	D1492G	possibly damaging	Het
Trank1	G	A	9: 111,207,887 (GRCm39)	G1711R	probably damaging	Het
Trpc6	A	T	9: 8,610,279 (GRCm39)	D249V	probably damaging	Het
Ubr3	G	A	2: 69,824,157 (GRCm39)		probably null	Het
Ufc1	A	G	1: 171,117,172 (GRCm39)		probably benign	Het
Unc5cl	T	C	17: 48,767,001 (GRCm39)	L125P	possibly damaging	Het
Usb1	G	A	8: 96,060,061 (GRCm39)	S57N	probably benign	Het
Wdfy1	A	G	1: 79,684,017 (GRCm39)	S373P	probably benign	Het
Zfp618	G	A	4: 63,051,801 (GRCm39)	A861T	probably benign	Het
Zfp831	T	C	2: 174,485,816 (GRCm39)	S164P	possibly damaging	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
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
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'- AGTTGACCCGTGACACTAAGAC -3'
(R):5'- ACGACAGCAACTGTTCTCTCTTG -3'

Sequencing Primer
(F):5'- TTACACAGGTACCCATAAAGACTTG -3'
(R):5'- CTCTTGCCTTAGTTTCAATAGGTG -3'

Posted On

2015-04-02