Mutagenetix > Incidental Mutation

Incidental Mutation 'R5464:Acyp2'

433173

Institutional Source

Beutler Lab

Gene Symbol

Acyp2

Ensembl Gene

ENSMUSG00000060923

Gene Name

acylphosphatase 2, muscle type

Synonyms

2310004B09Rik

MMRRC Submission

042850-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R5464 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30455991-30599587 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30456354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 98 (E98K)

Ref Sequence

ENSEMBL: ENSMUSP00000074195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074613]

AlphaFold

P56375

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074613
AA Change: E98K

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074195
Gene: ENSMUSG00000060923
AA Change: E98K

Domain	Start	End	E-Value	Type
Pfam:Acylphosphatase	10	105	1.5e-26	PFAM

Meta Mutation Damage Score

0.1234

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,227 (GRCm39)	G180E	probably damaging	Het
Acsl1	T	A	8: 46,958,775 (GRCm39)	D95E	probably benign	Het
Adamts16	T	A	13: 70,909,868 (GRCm39)	H895L	probably benign	Het
Alox12e	T	C	11: 70,208,505 (GRCm39)	Y483C	probably damaging	Het
Atp13a2	T	A	4: 140,733,381 (GRCm39)	F952I	probably damaging	Het
Crot	T	G	5: 9,033,690 (GRCm39)		probably null	Het
Dnaja1	T	A	4: 40,724,133 (GRCm39)	M98K	probably benign	Het
Eps8	C	T	6: 137,504,473 (GRCm39)	G87R	probably damaging	Het
Flg2	C	A	3: 93,109,277 (GRCm39)	T435K	possibly damaging	Het
Gpatch4	T	C	3: 87,962,062 (GRCm39)		probably null	Het
Heatr1	T	A	13: 12,448,524 (GRCm39)	M1795K	probably benign	Het
Ift52	T	C	2: 162,871,735 (GRCm39)	V189A	probably benign	Het
Kif21a	T	A	15: 90,878,058 (GRCm39)	D250V	probably damaging	Het
Lrrc66	T	C	5: 73,765,622 (GRCm39)	T474A	probably benign	Het
Mcub	T	C	3: 129,709,365 (GRCm39)	E316G	probably benign	Het
Mettl15	C	T	2: 109,021,967 (GRCm39)	V113I	probably benign	Het
Mroh8	T	A	2: 157,063,150 (GRCm39)	I824F	probably damaging	Het
Mrpl19	A	G	6: 81,938,992 (GRCm39)	M270T	probably damaging	Het
Naa12	C	T	18: 80,255,138 (GRCm39)	A144V	probably damaging	Het
Or10d4	A	T	9: 39,581,066 (GRCm39)	T238S	probably damaging	Het
Or4ac1-ps1	T	C	2: 88,370,599 (GRCm39)	Y58C	probably null	Het
Or51a25	A	G	7: 102,373,124 (GRCm39)	V191A	possibly damaging	Het
Or51a39	T	C	7: 102,362,889 (GRCm39)	T244A	probably benign	Het
Or51a43	C	A	7: 103,717,674 (GRCm39)	R188L	possibly damaging	Het
Or51f5	A	G	7: 102,424,640 (GRCm39)	K303R	probably benign	Het
Or52a24	T	A	7: 103,381,396 (GRCm39)	W88R	probably damaging	Het
Or5ak23	AAGTCTGGAGTC	AAGTC	2: 85,245,057 (GRCm39)		probably null	Het
Or6x1	T	C	9: 40,099,080 (GRCm39)	I223T	probably damaging	Het
Pacs1	T	C	19: 5,197,235 (GRCm39)	M430V	probably benign	Het
Piezo2	A	G	18: 63,278,176 (GRCm39)	S243P	probably damaging	Het
Ppp1r36	A	T	12: 76,474,852 (GRCm39)		probably null	Het
Prdm16	T	A	4: 154,430,601 (GRCm39)		probably null	Het
Prss36	A	T	7: 127,533,405 (GRCm39)	W97R	probably damaging	Het
Psmg4	A	T	13: 34,362,047 (GRCm39)	I112F	probably damaging	Het
Ptpru	C	T	4: 131,499,868 (GRCm39)	G1259R	probably damaging	Het
Rsph4a	T	C	10: 33,785,337 (GRCm39)	I416T	possibly damaging	Het
Scn2a	C	T	2: 65,532,100 (GRCm39)	R571C	probably damaging	Het
Selenbp1	A	G	3: 94,851,727 (GRCm39)	M423V	probably benign	Het
Serpina3i	G	A	12: 104,234,751 (GRCm39)	A361T	possibly damaging	Het
Serpinb3c	A	T	1: 107,199,434 (GRCm39)	D362E	probably damaging	Het
Sf3a3	T	C	4: 124,622,033 (GRCm39)		probably null	Het
Sgcg	A	G	14: 61,474,304 (GRCm39)	V113A	possibly damaging	Het
Slc3a2	T	C	19: 8,691,008 (GRCm39)	K74R	probably damaging	Het
Smco1	T	A	16: 32,092,694 (GRCm39)	W122R	probably damaging	Het
Snx19	A	G	9: 30,339,269 (GRCm39)	K136E	possibly damaging	Het
Trim32	A	G	4: 65,532,625 (GRCm39)	N394S	probably damaging	Het
Uqcrb	T	C	13: 67,048,889 (GRCm39)	D87G	probably damaging	Het
Wipf3	T	C	6: 54,462,308 (GRCm39)	S173P	possibly damaging	Het
Zfp473	T	C	7: 44,382,062 (GRCm39)	E756G	probably damaging	Het

Other mutations in Acyp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01587:Acyp2	APN	11	30,456,362 (GRCm39)	missense	probably benign	0.07
IGL02365:Acyp2	APN	11	30,599,318 (GRCm39)	missense	probably damaging	1.00
R1470:Acyp2	UTSW	11	30,456,452 (GRCm39)	splice site	probably benign
R2419:Acyp2	UTSW	11	30,582,316 (GRCm39)	missense	probably benign	0.20
R5389:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5393:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5423:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5425:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5426:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5460:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5462:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5560:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5561:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5602:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5826:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5901:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5902:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R5999:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R6046:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R6066:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R6107:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R6128:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R6196:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94
R6198:Acyp2	UTSW	11	30,456,354 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTGCTTGCTAAAACATAGGTGAG -3'
(R):5'- GCAAGGTAATACTGACCTTGAAG -3'

Sequencing Primer
(F):5'- AGGTGAGTAAATGTTTTCAGTTTCAG -3'
(R):5'- GGTAATACTGACCTTGAAGAGTTTG -3'

Posted On

2016-10-06