Incidental Mutation 'R5902:Acyp2'
ID 456396
Institutional Source Beutler Lab
Gene Symbol Acyp2
Ensembl Gene ENSMUSG00000060923
Gene Name acylphosphatase 2, muscle type
Synonyms 2310004B09Rik
MMRRC Submission 044100-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R5902 (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: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 92.1%
Validation Efficiency 99% (81/82)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,539,281 (GRCm39) M1V probably null Het
Abca13 T A 11: 9,247,177 (GRCm39) L2308H probably damaging Het
Abcc8 T C 7: 45,764,463 (GRCm39) T1161A probably benign Het
Acin1 T A 14: 54,901,130 (GRCm39) T659S probably benign Het
Actl7a G T 4: 56,743,827 (GRCm39) R118L probably damaging Het
Alkbh8 A G 9: 3,385,414 (GRCm39) K569E probably benign Het
Anxa3 A T 5: 96,960,712 (GRCm39) K39* probably null Het
Aoc2 A G 11: 101,220,072 (GRCm39) E659G probably damaging Het
Atg7 C T 6: 114,650,639 (GRCm39) T83M possibly damaging Het
AU022252 T C 4: 119,084,101 (GRCm39) D104G probably benign Het
Car6 T C 4: 150,271,956 (GRCm39) Y231C possibly damaging Het
Cdh10 T G 15: 18,985,341 (GRCm39) probably null Het
Cebpz A C 17: 79,233,366 (GRCm39) M787R probably benign Het
Chst2 A G 9: 95,287,662 (GRCm39) L228P probably damaging Het
Clic4 T C 4: 134,999,869 (GRCm39) K11R probably benign Het
Col6a3 C T 1: 90,729,921 (GRCm39) probably null Het
Commd7 T A 2: 153,463,737 (GRCm39) T144S probably damaging Het
Ctla2a T A 13: 61,082,834 (GRCm39) *138Y probably null Het
Dhx33 A T 11: 70,879,957 (GRCm39) V351D probably damaging Het
Dnah9 G A 11: 65,916,013 (GRCm39) T2313I probably benign Het
Dspp A T 5: 104,325,977 (GRCm39) D780V unknown Het
Dync1li1 A G 9: 114,546,929 (GRCm39) probably null Het
E2f3 C T 13: 30,169,250 (GRCm39) probably benign Het
Fan1 T C 7: 64,023,070 (GRCm39) probably null Het
Gart A G 16: 91,425,415 (GRCm39) S617P probably damaging Het
Ggcx A G 6: 72,406,979 (GRCm39) N705S possibly damaging Het
Gm4841 A T 18: 60,403,868 (GRCm39) V75E probably damaging Het
Greb1l A G 18: 10,538,302 (GRCm39) E1105G probably benign Het
Hr C A 14: 70,795,231 (GRCm39) Q288K probably benign Het
Hus1 T C 11: 8,960,669 (GRCm39) probably benign Het
Ifi47 C A 11: 48,986,213 (GRCm39) probably null Het
Irf2bp1 T C 7: 18,738,372 (GRCm39) V4A probably benign Het
Kprp C T 3: 92,731,835 (GRCm39) C405Y unknown Het
Lacc1 T C 14: 77,272,239 (GRCm39) I186V possibly damaging Het
Lifr A G 15: 7,220,231 (GRCm39) T954A probably benign Het
Lonrf2 T C 1: 38,846,174 (GRCm39) M333V probably benign Het
Mthfd1 A T 12: 76,337,826 (GRCm39) H400L probably benign Het
Myh4 A G 11: 67,141,733 (GRCm39) K864R possibly damaging Het
Nup50 C T 15: 84,819,641 (GRCm39) A305V probably benign Het
Or4a74 T A 2: 89,439,595 (GRCm39) I284L probably damaging Het
Or4k44 C T 2: 111,367,739 (GRCm39) M298I probably benign Het
Pax4 G T 6: 28,447,126 (GRCm39) Q3K probably benign Het
Pced1b T G 15: 97,282,970 (GRCm39) Y336* probably null Het
Postn C A 3: 54,279,510 (GRCm39) N329K probably benign Het
Prickle1 T C 15: 93,408,553 (GRCm39) E82G probably null Het
Prtn3 T C 10: 79,718,766 (GRCm39) Y241H probably damaging Het
Rasgrf2 A T 13: 92,068,011 (GRCm39) I260K probably damaging Het
Sh3glb1 T C 3: 144,418,431 (GRCm39) N44S possibly damaging Het
Sis A T 3: 72,867,589 (GRCm39) probably null Het
Slc4a9 A G 18: 36,662,386 (GRCm39) probably null Het
Slc4a9 A T 18: 36,664,560 (GRCm39) D406V probably damaging Het
Slc8a1 C T 17: 81,715,511 (GRCm39) G841R probably damaging Het
Smn1 C T 13: 100,263,412 (GRCm39) P60L probably benign Het
Snai1 G A 2: 167,383,930 (GRCm39) C241Y probably damaging Het
Spock3 A G 8: 63,808,336 (GRCm39) D411G unknown Het
Szt2 T A 4: 118,248,700 (GRCm39) T607S probably benign Het
Tcap A T 11: 98,274,673 (GRCm39) M1L probably benign Het
Tex29 A T 8: 11,905,723 (GRCm39) probably benign Het
Tex29 C A 8: 11,904,276 (GRCm39) probably benign Het
Tex29 C T 8: 11,904,277 (GRCm39) probably benign Het
Tln2 T C 9: 67,269,999 (GRCm39) T467A probably benign Het
Trim34a C T 7: 103,910,328 (GRCm39) Q377* probably null Het
Ube2q1 T A 3: 89,683,487 (GRCm39) L144* probably null Het
Vps13c A G 9: 67,841,729 (GRCm39) E1917G probably benign Het
Wdr19 T A 5: 65,384,482 (GRCm39) N525K probably benign Het
Wdr3 A T 3: 100,051,807 (GRCm39) probably benign Het
Wnt5b T A 6: 119,425,199 (GRCm39) H6L probably benign Het
Yju2 A G 17: 56,269,077 (GRCm39) T62A probably damaging Het
Zdbf2 T C 1: 63,345,685 (GRCm39) S1355P possibly damaging Het
Zfp11 T A 5: 129,734,976 (GRCm39) I162F probably damaging Het
Zpbp T C 11: 11,365,332 (GRCm39) T172A probably benign 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
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
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
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 2017-02-15