Incidental Mutation 'R5382:Acp7'
ID |
424785 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acp7
|
Ensembl Gene |
ENSMUSG00000037469 |
Gene Name |
acid phosphatase 7, tartrate resistant |
Synonyms |
C330005M16Rik, Papl |
MMRRC Submission |
042957-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.294)
|
Stock # |
R5382 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
28306701-28330757 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 28314844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 250
(P250S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040112]
[ENSMUST00000159418]
[ENSMUST00000159560]
|
AlphaFold |
Q8BX37 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040112
AA Change: P250S
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000045437 Gene: ENSMUSG00000037469 AA Change: P250S
Domain | Start | End | E-Value | Type |
Pfam:Pur_ac_phosph_N
|
90 |
183 |
2.2e-19 |
PFAM |
Pfam:Metallophos
|
192 |
395 |
6.4e-27 |
PFAM |
Pfam:Metallophos_C
|
420 |
482 |
4.5e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159418
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159560
|
Meta Mutation Damage Score |
0.1781 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (59/59) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
A |
13: 12,323,837 (GRCm39) |
M133L |
probably benign |
Het |
Arhgap32 |
A |
T |
9: 32,063,306 (GRCm39) |
K105M |
probably damaging |
Het |
BC034090 |
A |
G |
1: 155,101,349 (GRCm39) |
V305A |
probably benign |
Het |
Brd1 |
G |
A |
15: 88,613,767 (GRCm39) |
T376M |
probably damaging |
Het |
Cbl |
C |
T |
9: 44,070,318 (GRCm39) |
A505T |
probably benign |
Het |
Cga |
G |
T |
4: 34,904,048 (GRCm39) |
M14I |
probably benign |
Het |
Ciao3 |
A |
G |
17: 25,995,894 (GRCm39) |
|
probably benign |
Het |
Cluh |
T |
C |
11: 74,555,935 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,225,832 (GRCm39) |
D165V |
unknown |
Het |
Cp |
T |
C |
3: 20,033,089 (GRCm39) |
W639R |
probably damaging |
Het |
Cyp7b1 |
T |
A |
3: 18,151,385 (GRCm39) |
D276V |
possibly damaging |
Het |
Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
T |
4: 58,850,934 (GRCm39) |
M413K |
probably benign |
Het |
Erc1 |
T |
A |
6: 119,738,233 (GRCm39) |
M509L |
probably benign |
Het |
Evi5l |
A |
G |
8: 4,228,653 (GRCm39) |
|
probably benign |
Het |
Exoc6 |
T |
C |
19: 37,587,127 (GRCm39) |
|
probably null |
Het |
Gm38706 |
C |
T |
6: 130,460,744 (GRCm39) |
|
noncoding transcript |
Het |
Gpr183 |
T |
C |
14: 122,192,333 (GRCm39) |
T63A |
possibly damaging |
Het |
Gpr63 |
T |
A |
4: 25,007,952 (GRCm39) |
D225E |
probably benign |
Het |
Grb14 |
T |
A |
2: 64,745,078 (GRCm39) |
K93N |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kif28 |
C |
T |
1: 179,527,847 (GRCm39) |
G768D |
probably damaging |
Het |
Krt79 |
A |
T |
15: 101,839,875 (GRCm39) |
D373E |
probably benign |
Het |
Mro |
G |
A |
18: 74,009,893 (GRCm39) |
S187N |
probably benign |
Het |
Ms4a14 |
G |
T |
19: 11,280,421 (GRCm39) |
D712E |
possibly damaging |
Het |
Ndufaf1 |
T |
C |
2: 119,490,893 (GRCm39) |
T56A |
possibly damaging |
Het |
Nell2 |
A |
T |
15: 95,127,091 (GRCm39) |
D761E |
probably damaging |
Het |
Numb |
A |
G |
12: 83,854,979 (GRCm39) |
F116L |
probably damaging |
Het |
Or3a1 |
T |
A |
11: 74,225,806 (GRCm39) |
M84L |
probably benign |
Het |
Or4c114 |
A |
G |
2: 88,905,079 (GRCm39) |
Y119H |
probably damaging |
Het |
Or5an11 |
A |
T |
19: 12,245,773 (GRCm39) |
M60L |
possibly damaging |
Het |
Or6c66 |
T |
A |
10: 129,461,876 (GRCm39) |
D18V |
probably damaging |
Het |
Or8k27 |
A |
G |
2: 86,275,660 (GRCm39) |
L222P |
probably damaging |
Het |
Or9g20 |
T |
C |
2: 85,630,492 (GRCm39) |
N41D |
probably damaging |
Het |
Otog |
A |
C |
7: 45,898,428 (GRCm39) |
N182T |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Padi6 |
A |
T |
4: 140,458,521 (GRCm39) |
V457E |
probably damaging |
Het |
Pex16 |
G |
A |
2: 92,207,875 (GRCm39) |
R109H |
possibly damaging |
Het |
Phactr1 |
T |
C |
13: 43,288,695 (GRCm39) |
|
probably benign |
Het |
Phf20 |
G |
A |
2: 156,109,417 (GRCm39) |
E255K |
probably damaging |
Het |
Pim1 |
A |
G |
17: 29,710,457 (GRCm39) |
|
probably benign |
Het |
Prr23a2 |
T |
A |
9: 98,739,229 (GRCm39) |
Y196N |
probably damaging |
Het |
Prune2 |
A |
T |
19: 16,981,023 (GRCm39) |
N60I |
probably damaging |
Het |
Ptprb |
T |
A |
10: 116,189,776 (GRCm39) |
Y1812N |
probably damaging |
Het |
Rab11fip4 |
A |
G |
11: 79,581,541 (GRCm39) |
Y512C |
possibly damaging |
Het |
Resf1 |
G |
T |
6: 149,227,958 (GRCm39) |
E335* |
probably null |
Het |
Rft1 |
T |
C |
14: 30,388,739 (GRCm39) |
V221A |
probably benign |
Het |
Tacr2 |
T |
C |
10: 62,097,276 (GRCm39) |
M252T |
probably damaging |
Het |
Tgfbrap1 |
A |
G |
1: 43,115,025 (GRCm39) |
I25T |
probably benign |
Het |
Th |
A |
G |
7: 142,449,177 (GRCm39) |
F191S |
probably damaging |
Het |
Trim3 |
C |
A |
7: 105,267,554 (GRCm39) |
R275L |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,862,705 (GRCm39) |
|
probably null |
Het |
Wars1 |
A |
T |
12: 108,848,706 (GRCm39) |
D80E |
probably benign |
Het |
Wdr90 |
T |
A |
17: 26,064,572 (GRCm39) |
Y1806F |
probably damaging |
Het |
Zfp644 |
A |
T |
5: 106,782,735 (GRCm39) |
I1182N |
possibly damaging |
Het |
|
Other mutations in Acp7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00423:Acp7
|
APN |
7 |
28,314,122 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL00808:Acp7
|
APN |
7 |
28,314,377 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01085:Acp7
|
APN |
7 |
28,310,478 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02123:Acp7
|
APN |
7 |
28,328,914 (GRCm39) |
missense |
probably benign |
|
IGL02250:Acp7
|
APN |
7 |
28,329,135 (GRCm39) |
splice site |
probably benign |
|
IGL02255:Acp7
|
APN |
7 |
28,314,148 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02904:Acp7
|
APN |
7 |
28,307,428 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03110:Acp7
|
APN |
7 |
28,310,464 (GRCm39) |
missense |
probably benign |
0.25 |
R0172:Acp7
|
UTSW |
7 |
28,314,549 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0360:Acp7
|
UTSW |
7 |
28,310,553 (GRCm39) |
splice site |
probably benign |
|
R0364:Acp7
|
UTSW |
7 |
28,310,553 (GRCm39) |
splice site |
probably benign |
|
R1616:Acp7
|
UTSW |
7 |
28,310,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R1973:Acp7
|
UTSW |
7 |
28,307,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R2077:Acp7
|
UTSW |
7 |
28,328,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Acp7
|
UTSW |
7 |
28,328,974 (GRCm39) |
missense |
probably damaging |
0.99 |
R2256:Acp7
|
UTSW |
7 |
28,313,838 (GRCm39) |
missense |
probably damaging |
0.98 |
R2257:Acp7
|
UTSW |
7 |
28,313,838 (GRCm39) |
missense |
probably damaging |
0.98 |
R2696:Acp7
|
UTSW |
7 |
28,314,001 (GRCm39) |
missense |
probably benign |
0.00 |
R3103:Acp7
|
UTSW |
7 |
28,310,409 (GRCm39) |
critical splice donor site |
probably null |
|
R3753:Acp7
|
UTSW |
7 |
28,316,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R3833:Acp7
|
UTSW |
7 |
28,314,519 (GRCm39) |
missense |
probably benign |
0.00 |
R4622:Acp7
|
UTSW |
7 |
28,313,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R4849:Acp7
|
UTSW |
7 |
28,314,877 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5364:Acp7
|
UTSW |
7 |
28,310,448 (GRCm39) |
missense |
probably benign |
0.25 |
R5665:Acp7
|
UTSW |
7 |
28,315,968 (GRCm39) |
missense |
probably benign |
0.31 |
R5688:Acp7
|
UTSW |
7 |
28,315,920 (GRCm39) |
missense |
probably benign |
0.20 |
R7278:Acp7
|
UTSW |
7 |
28,330,307 (GRCm39) |
missense |
unknown |
|
R7295:Acp7
|
UTSW |
7 |
28,328,955 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7384:Acp7
|
UTSW |
7 |
28,314,513 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7875:Acp7
|
UTSW |
7 |
28,314,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R8227:Acp7
|
UTSW |
7 |
28,316,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R8772:Acp7
|
UTSW |
7 |
28,315,909 (GRCm39) |
missense |
probably damaging |
0.99 |
R8969:Acp7
|
UTSW |
7 |
28,307,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R9053:Acp7
|
UTSW |
7 |
28,316,616 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9199:Acp7
|
UTSW |
7 |
28,316,591 (GRCm39) |
missense |
probably benign |
0.45 |
R9668:Acp7
|
UTSW |
7 |
28,314,562 (GRCm39) |
critical splice acceptor site |
probably null |
|
RF006:Acp7
|
UTSW |
7 |
28,314,204 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0018:Acp7
|
UTSW |
7 |
28,307,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCTCAACTTTCAGGCTACAG -3'
(R):5'- AGGCTTGTCCTATGAGAGGGTC -3'
Sequencing Primer
(F):5'- CTACAGCCGGCTCCCAG -3'
(R):5'- TCTGAGGTAGGGATCAGGACCC -3'
|
Posted On |
2016-08-04 |