Incidental Mutation 'R5901:Acyp2'
ID |
456334 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acyp2
|
Ensembl Gene |
ENSMUSG00000060923 |
Gene Name |
acylphosphatase 2, muscle type |
Synonyms |
2310004B09Rik |
MMRRC Submission |
043239-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R5901 (G1)
|
Quality Score |
225 |
Status
|
Not 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
Domain | Start | End | E-Value | Type |
Pfam:Acylphosphatase
|
10 |
105 |
1.5e-26 |
PFAM |
|
Meta Mutation Damage Score |
0.1234 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
T |
A |
11: 99,728,163 (GRCm39) |
S227C |
unknown |
Het |
Adamts15 |
C |
T |
9: 30,813,786 (GRCm39) |
R793H |
probably damaging |
Het |
Ankra2 |
A |
G |
13: 98,407,644 (GRCm39) |
E38G |
probably damaging |
Het |
Aqp8 |
G |
A |
7: 123,061,807 (GRCm39) |
C8Y |
probably damaging |
Het |
Atg9b |
A |
G |
5: 24,597,017 (GRCm39) |
|
probably benign |
Het |
Atp6v1b1 |
A |
G |
6: 83,735,339 (GRCm39) |
E469G |
possibly damaging |
Het |
B4gat1 |
T |
A |
19: 5,089,241 (GRCm39) |
Y79* |
probably null |
Het |
BB019430 |
T |
A |
10: 58,540,014 (GRCm39) |
|
noncoding transcript |
Het |
Calhm3 |
T |
C |
19: 47,146,052 (GRCm39) |
Y51C |
probably damaging |
Het |
Ccr2 |
C |
T |
9: 123,906,239 (GRCm39) |
T173I |
possibly damaging |
Het |
Cfap43 |
T |
C |
19: 47,885,538 (GRCm39) |
D359G |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,566,639 (GRCm39) |
E1022G |
possibly damaging |
Het |
Drd2 |
T |
A |
9: 49,318,259 (GRCm39) |
C400* |
probably null |
Het |
Efcab7 |
T |
A |
4: 99,766,941 (GRCm39) |
H495Q |
probably damaging |
Het |
Faim |
T |
C |
9: 98,874,195 (GRCm39) |
V29A |
probably benign |
Het |
Fancd2 |
T |
C |
6: 113,526,326 (GRCm39) |
S350P |
probably damaging |
Het |
Fbxw16 |
T |
C |
9: 109,270,285 (GRCm39) |
E152G |
probably benign |
Het |
Kif17 |
T |
C |
4: 138,025,643 (GRCm39) |
|
probably null |
Het |
Kif24 |
A |
T |
4: 41,428,604 (GRCm39) |
S119T |
probably damaging |
Het |
Ly6k |
A |
T |
15: 74,670,429 (GRCm39) |
S38T |
probably benign |
Het |
Mapk10 |
A |
G |
5: 103,061,158 (GRCm39) |
S430P |
probably damaging |
Het |
Megf10 |
G |
A |
18: 57,410,180 (GRCm39) |
A654T |
probably benign |
Het |
Mlph |
T |
C |
1: 90,867,536 (GRCm39) |
L450P |
probably damaging |
Het |
Otof |
T |
C |
5: 30,532,323 (GRCm39) |
D1603G |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,116,771 (GRCm39) |
S1580P |
possibly damaging |
Het |
Rad54b |
G |
A |
4: 11,595,919 (GRCm39) |
R232H |
possibly damaging |
Het |
Sar1b |
C |
T |
11: 51,670,576 (GRCm39) |
T40I |
possibly damaging |
Het |
Scyl2 |
C |
T |
10: 89,496,124 (GRCm39) |
S242N |
probably benign |
Het |
Sema4b |
A |
G |
7: 79,874,715 (GRCm39) |
N702D |
possibly damaging |
Het |
Slc16a11 |
A |
G |
11: 70,107,172 (GRCm39) |
I394V |
probably benign |
Het |
Stard9 |
A |
C |
2: 120,531,851 (GRCm39) |
T2703P |
probably damaging |
Het |
Stat5b |
A |
T |
11: 100,695,733 (GRCm39) |
L83Q |
possibly damaging |
Het |
Tas2r119 |
T |
A |
15: 32,177,932 (GRCm39) |
V166D |
possibly damaging |
Het |
Tmem117 |
T |
A |
15: 94,612,839 (GRCm39) |
I125N |
probably benign |
Het |
Tmem39a |
T |
C |
16: 38,393,568 (GRCm39) |
I89T |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,178,565 (GRCm39) |
H3272Q |
probably damaging |
Het |
Vmn1r7 |
T |
C |
6: 57,001,591 (GRCm39) |
E223G |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,603,796 (GRCm39) |
V658A |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,343,410 (GRCm39) |
T1884S |
possibly damaging |
Het |
Xkr4 |
A |
T |
1: 3,286,901 (GRCm39) |
F430I |
probably damaging |
Het |
Yae1d1 |
A |
G |
13: 18,164,200 (GRCm39) |
M1T |
probably null |
Het |
Zfand4 |
T |
C |
6: 116,265,084 (GRCm39) |
V183A |
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 |
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 |
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'- AAGAGCAAGGTAATACTGACCTTG -3'
Sequencing Primer
(F):5'- AGGTGAGTAAATGTTTTCAGTTTCAG -3'
(R):5'- GGTAATACTGACCTTGAAGAGTTTG -3'
|
Posted On |
2017-02-15 |