Mutagenetix > Incidental Mutation

Incidental Mutation 'R5425:Acyp2'

426833

Institutional Source

Beutler Lab

Gene Symbol

Acyp2

Ensembl Gene

ENSMUSG00000060923

Gene Name

acylphosphatase 2, muscle type

Synonyms

2310004B09Rik

MMRRC Submission

042991-MU

Accession Numbers

Essential gene?

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

Stock #

R5425 (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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,864,254 (GRCm39)	E465G	probably damaging	Het
Aida	T	A	1: 183,103,201 (GRCm39)	C174S	possibly damaging	Het
Aldh1a2	G	A	9: 71,160,286 (GRCm39)	R104H	probably benign	Het
Aldh3a1	T	C	11: 61,104,407 (GRCm39)	L98P	probably benign	Het
Ankmy1	G	T	1: 92,798,679 (GRCm39)	Y20*	probably null	Het
Arhgap9	C	A	10: 127,162,287 (GRCm39)	N314K	probably damaging	Het
Atxn7l1	T	C	12: 33,417,119 (GRCm39)	Y427H	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Bola3	G	T	6: 83,326,534 (GRCm39)	G18W	probably benign	Het
Carmil3	A	G	14: 55,731,334 (GRCm39)	T138A	probably benign	Het
Castor1	T	A	11: 4,171,689 (GRCm39)	H304Q	probably damaging	Het
Ccnd2	A	G	6: 127,127,580 (GRCm39)	Y53H	probably benign	Het
Cd101	T	A	3: 100,926,002 (GRCm39)	D239V	probably damaging	Het
Ces1g	T	A	8: 94,052,428 (GRCm39)	Q287L	probably benign	Het
Cfap43	C	T	19: 47,885,371 (GRCm39)	A415T	possibly damaging	Het
Cfap74	A	G	4: 155,540,149 (GRCm39)		probably benign	Het
Crnn	A	G	3: 93,056,456 (GRCm39)	K414R	probably benign	Het
Csf1	A	G	3: 107,656,212 (GRCm39)	L273P	possibly damaging	Het
Dab2ip	T	G	2: 35,600,003 (GRCm39)	H206Q	probably benign	Het
Dipk2a	T	C	9: 94,419,745 (GRCm39)	S62G	probably damaging	Het
Diras2	A	G	13: 52,662,083 (GRCm39)	S75P	probably damaging	Het
Dst	T	C	1: 34,218,831 (GRCm39)	V1757A	probably benign	Het
Dus4l	A	T	12: 31,690,807 (GRCm39)	H281Q	probably damaging	Het
Faah	A	T	4: 115,857,993 (GRCm39)	M436K	probably null	Het
Fat1	T	C	8: 45,478,922 (GRCm39)	V2656A	possibly damaging	Het
Ffar1	A	C	7: 30,560,204 (GRCm39)	L231R	probably damaging	Het
Gab1	T	C	8: 81,527,018 (GRCm39)	K27E	probably damaging	Het
Gm14403	AAACCCTA	AA	2: 177,201,448 (GRCm39)		probably benign	Het
H2-T5	A	C	17: 36,479,377 (GRCm39)	L8R	probably damaging	Het
Irx6	T	C	8: 93,404,145 (GRCm39)		probably null	Het
Mcrs1	C	A	15: 99,141,569 (GRCm39)	R376L	probably damaging	Het
Mrgprb1	T	A	7: 48,097,719 (GRCm39)	L64F	possibly damaging	Het
Nck2	T	G	1: 43,593,552 (GRCm39)	V253G	probably benign	Het
Paip1	C	T	13: 119,566,702 (GRCm39)	T12M	possibly damaging	Het
Pdpk1	A	T	17: 24,317,095 (GRCm39)	L256Q	probably damaging	Het
Perm1	A	G	4: 156,302,752 (GRCm39)	D432G	probably benign	Het
Psg25	A	T	7: 18,258,709 (GRCm39)	Y322*	probably null	Het
Pzp	G	A	6: 128,466,011 (GRCm39)	A1223V	probably damaging	Het
Rassf8	A	T	6: 145,761,268 (GRCm39)	Y198F	probably benign	Het
Repin1	A	G	6: 48,573,365 (GRCm39)	Q42R	probably benign	Het
Sirpb1b	A	C	3: 15,613,729 (GRCm39)	C51G	probably damaging	Het
Snx13	C	T	12: 35,150,643 (GRCm39)	Q316*	probably null	Het
Spesp1	A	G	9: 62,189,331 (GRCm39)	V5A	possibly damaging	Het
Sprr2e	G	A	3: 92,260,370 (GRCm39)	C67Y	unknown	Het
Tcaf3	G	A	6: 42,573,697 (GRCm39)	P172S	probably damaging	Het
Tmem126b	A	G	7: 90,120,155 (GRCm39)	I72T	probably benign	Het
Tmem17	G	T	11: 22,468,624 (GRCm39)	V188L	probably benign	Het
Tnfrsf1b	T	C	4: 144,955,678 (GRCm39)		probably null	Het
Tshz2	A	T	2: 169,725,944 (GRCm39)	Q180L	probably damaging	Het
Ttc41	A	T	10: 86,612,494 (GRCm39)	I1256F	probably damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Ywhag	G	T	5: 135,940,119 (GRCm39)	H158Q	probably benign	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
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
R5464: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'- GAGCAAGGTAATACTGACCTTGAAG -3'

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

Posted On

2016-09-01