Incidental Mutation 'R5423:Acyp2'
ID 426717
Institutional Source Beutler Lab
Gene Symbol Acyp2
Ensembl Gene ENSMUSG00000060923
Gene Name acylphosphatase 2, muscle type
Synonyms 2310004B09Rik
MMRRC Submission 042989-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R5423 (G1)
Quality Score 225
Status Validated
Chromosome 11
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

DomainStartEndE-ValueType
Pfam:Acylphosphatase 10 105 1.5e-26 PFAM
Meta Mutation Damage Score 0.1234 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (60/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Adamts9 A G 6: 92,857,678 (GRCm39) I289T possibly damaging Het
Ak4 T G 4: 101,317,760 (GRCm39) I110S probably damaging Het
Arhgap9 T G 10: 127,165,418 (GRCm39) I609S probably damaging Het
Arid4a C A 12: 71,116,634 (GRCm39) S242* probably null Het
Ceacam1 T G 7: 25,173,951 (GRCm39) I235L probably benign Het
Chil3 T C 3: 106,055,978 (GRCm39) D365G probably damaging Het
Ckap2 A C 8: 22,667,212 (GRCm39) S216R probably benign Het
Cyp2e1 G T 7: 140,350,031 (GRCm39) V239L probably benign Het
Dnah7b T A 1: 46,397,431 (GRCm39) M3954K probably benign Het
Ercc6l2 A T 13: 64,020,072 (GRCm39) probably benign Het
Etv5 T C 16: 22,202,404 (GRCm39) D468G probably damaging Het
Fbxo44 T A 4: 148,238,686 (GRCm39) I213F probably benign Het
Gm5084 A G 13: 60,360,356 (GRCm39) noncoding transcript Het
Gpr17 G A 18: 32,080,694 (GRCm39) T123I probably damaging Het
Grin3a A G 4: 49,770,376 (GRCm39) probably benign Het
H2-D1 T G 17: 35,484,883 (GRCm39) L248R probably damaging Het
Hmcn1 T C 1: 150,577,723 (GRCm39) I2013V probably damaging Het
Hp1bp3 A T 4: 137,953,208 (GRCm39) D84V probably damaging Het
Ift140 T C 17: 25,252,059 (GRCm39) F33S probably damaging Het
Inhbc C G 10: 127,193,296 (GRCm39) C240S probably damaging Het
Iqgap1 T A 7: 80,449,610 (GRCm39) E62V probably damaging Het
Kcna4 G A 2: 107,126,151 (GRCm39) W295* probably null Het
Kdm4a C T 4: 117,996,105 (GRCm39) A975T probably damaging Het
Lrrtm3 T C 10: 63,923,931 (GRCm39) D412G possibly damaging Het
Midn A C 10: 79,991,027 (GRCm39) I346L probably benign Het
Ndufa10 C T 1: 92,390,042 (GRCm39) D259N probably benign Het
Nefh C A 11: 4,890,985 (GRCm39) A545S possibly damaging Het
Prpf8 A G 11: 75,399,784 (GRCm39) Y2281C probably damaging Het
Psip1 G A 4: 83,378,367 (GRCm39) probably benign Het
Ptpro G T 6: 137,419,705 (GRCm39) A184S probably damaging Het
Rab37 T A 11: 115,047,853 (GRCm39) I65K possibly damaging Het
Rasgrp4 T C 7: 28,844,561 (GRCm39) L247P probably damaging Het
Rnf20 T C 4: 49,644,620 (GRCm39) V295A probably damaging Het
Serpina3g A G 12: 104,204,253 (GRCm39) probably benign Het
Shox2 A G 3: 66,881,087 (GRCm39) probably benign Het
Skint6 T G 4: 112,707,937 (GRCm39) D977A possibly damaging Het
Slc25a23 C T 17: 57,360,597 (GRCm39) V248M probably damaging Het
Slco1a7 T A 6: 141,690,188 (GRCm39) K188N probably damaging Het
Smg1 A T 7: 117,745,294 (GRCm39) D3008E possibly damaging Het
St18 A G 1: 6,872,840 (GRCm39) S192G possibly damaging Het
Supt20 T A 3: 54,616,746 (GRCm39) V306E probably damaging Het
T T C 17: 8,660,597 (GRCm39) Y403H probably damaging Het
Tars3 C A 7: 65,333,567 (GRCm39) N588K probably benign Het
Tmem132c T C 5: 127,640,907 (GRCm39) V1026A probably benign Het
Trpv4 T C 5: 114,774,506 (GRCm39) T193A probably benign Het
Ubqln4 A G 3: 88,470,506 (GRCm39) N326S probably damaging Het
Uggt2 G A 14: 119,256,898 (GRCm39) T1112I probably damaging Het
Vasn C T 16: 4,466,284 (GRCm39) P77L probably benign Het
Vps9d1 A C 8: 123,974,704 (GRCm39) probably null Het
Washc4 C A 10: 83,415,418 (GRCm39) Q803K possibly damaging Het
Zcchc2 C T 1: 105,958,430 (GRCm39) T967I probably damaging Het
Zfp874a G A 13: 67,590,473 (GRCm39) L404F possibly damaging Het
Zscan30 T C 18: 24,104,773 (GRCm39) noncoding transcript Het
Other mutations in Acyp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCTGCTTGCTAAAACATAGGTGAG -3'
(R):5'- GCAAGGTAATACTGACCTTGAAG -3'

Sequencing Primer
(F):5'- AGGTGAGTAAATGTTTTCAGTTTCAG -3'
(R):5'- GGTAATACTGACCTTGAAGAGTTTG -3'
Posted On 2016-09-01