Mutagenetix > Incidental Mutation

Incidental Mutation 'R5460:Acyp2'

432981

Institutional Source

Beutler Lab

Gene Symbol

Acyp2

Ensembl Gene

ENSMUSG00000060923

Gene Name

acylphosphatase 2, muscle type

Synonyms

2310004B09Rik

MMRRC Submission

042849-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R5460 (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: 98.7%
10x: 97.5%
20x: 96.0%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,238 (GRCm39)	M191K	probably benign	Het
Actn1	T	C	12: 80,230,342 (GRCm39)	N304S	probably benign	Het
Adamtsl2	T	A	2: 26,985,410 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,572,377 (GRCm39)	E4928G	possibly damaging	Het
Alms1	T	A	6: 85,673,713 (GRCm39)	C3103S	probably benign	Het
Appl2	T	A	10: 83,438,696 (GRCm39)	I578F	probably benign	Het
Atp10b	T	C	11: 43,121,282 (GRCm39)	S982P	probably benign	Het
Brd10	G	T	19: 29,732,250 (GRCm39)	P254Q	probably damaging	Het
Capn7	T	C	14: 31,090,160 (GRCm39)		probably null	Het
Cd200r3	A	G	16: 44,778,093 (GRCm39)	T166A	possibly damaging	Het
Dctn6	C	T	8: 34,572,135 (GRCm39)		probably null	Het
Duxf4	G	A	10: 58,071,717 (GRCm39)	H166Y	possibly damaging	Het
Fam114a1	T	A	5: 65,185,776 (GRCm39)	F366I	probably damaging	Het
Fam98b	A	T	2: 117,089,737 (GRCm39)	S85C	probably damaging	Het
Fat3	T	A	9: 15,830,463 (GRCm39)	N4344Y	probably damaging	Het
Fhl3	T	G	4: 124,599,796 (GRCm39)	C92W	probably damaging	Het
Flrt1	T	C	19: 7,073,105 (GRCm39)	T481A	probably damaging	Het
Gng2	G	T	14: 19,941,426 (GRCm39)	N5K	probably benign	Het
Iqcm	A	T	8: 76,441,417 (GRCm39)	D230V	probably benign	Het
Limk2	T	C	11: 3,302,332 (GRCm39)	I176V	probably benign	Het
Lrrk2	T	A	15: 91,698,847 (GRCm39)		probably null	Het
Maml1	T	C	11: 50,157,180 (GRCm39)	T332A	probably benign	Het
Matcap2	T	C	9: 22,351,216 (GRCm39)	F453L	probably benign	Het
Mbd1	T	C	18: 74,402,581 (GRCm39)	F28L	probably benign	Het
Morf4l1	G	A	9: 89,977,183 (GRCm39)	T246I	probably benign	Het
Mtres1	T	C	10: 43,408,861 (GRCm39)	K94R	probably benign	Het
Naa12	C	T	18: 80,255,138 (GRCm39)	A144V	probably damaging	Het
Ndufaf1	T	G	2: 119,490,958 (GRCm39)	D34A	probably benign	Het
Or4a77	T	A	2: 89,487,414 (GRCm39)	I124F	probably damaging	Het
Or4c114	C	T	2: 88,905,208 (GRCm39)	V76I	probably benign	Het
Patl1	C	T	19: 11,913,082 (GRCm39)	R542C	possibly damaging	Het
Pcdha2	T	C	18: 37,072,474 (GRCm39)	V35A	probably damaging	Het
Phf11b	G	A	14: 59,568,713 (GRCm39)	P67S	probably benign	Het
Plxnd1	T	C	6: 115,934,609 (GRCm39)	I1775V	probably damaging	Het
Ryr1	T	A	7: 28,771,386 (GRCm39)	T2552S	probably damaging	Het
Scai	A	T	2: 38,973,585 (GRCm39)	L52H	probably damaging	Het
Scai	G	C	2: 38,973,586 (GRCm39)	L52V	probably damaging	Het
Stag1	A	T	9: 100,838,506 (GRCm39)		probably null	Het
Tgs1	A	G	4: 3,586,170 (GRCm39)	K349R	probably benign	Het
Tpbgl	T	C	7: 99,274,961 (GRCm39)	I299V	probably benign	Het
Ttc3	A	G	16: 94,258,241 (GRCm39)	T1325A	probably benign	Het
Ubxn11	A	T	4: 133,852,396 (GRCm39)	E210D	probably damaging	Het
Unc13c	T	C	9: 73,453,271 (GRCm39)	I1840V	probably benign	Het
Zfp74	A	T	7: 29,635,316 (GRCm39)	F131I	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
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
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

2016-10-06