Incidental Mutation 'R0076:Acp3'
| ID |
212559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acp3
|
| Ensembl Gene |
ENSMUSG00000032561 |
| Gene Name |
acid phosphatase 3 |
| Synonyms |
A030005E02Rik, Acpp, PAP |
| MMRRC Submission |
038363-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R0076 (G1)
|
| Quality Score |
23 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
104165439-104214921 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 104201417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062723]
[ENSMUST00000112590]
[ENSMUST00000215852]
|
| AlphaFold |
Q8CE08 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062723
|
| SMART Domains |
Protein: ENSMUSP00000059889
Gene: ENSMUSG00000032561
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:His_Phos_2
|
33 |
331 |
3.8e-35 |
PFAM |
|
transmembrane domain
|
382 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112590
|
| SMART Domains |
Protein: ENSMUSP00000108209
Gene: ENSMUSG00000032561
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:His_Phos_2
|
33 |
331 |
1.8e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125800
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128635
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215852
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is synthesized under androgen regulation and is secreted by the epithelial cells of the prostate gland. An alternatively spliced transcript variant encoding a longer isoform has been found for this gene. This isoform contains a transmembrane domain and is localized in the plasma membrane-endosomal-lysosomal pathway. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased thermal nociceptive threshold and mechanical allodynia in chronic inflammatory and nerve injury pain models. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
T |
A |
5: 90,392,265 (GRCm39) |
K1693* |
probably null |
Het |
| Car10 |
G |
A |
11: 93,381,423 (GRCm39) |
E129K |
possibly damaging |
Het |
| Ccnd1 |
A |
C |
7: 144,493,402 (GRCm39) |
V10G |
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,010,034 (GRCm39) |
D406G |
probably damaging |
Het |
| Cfap91 |
G |
A |
16: 38,123,046 (GRCm39) |
Q661* |
probably null |
Het |
| Col4a1 |
G |
A |
8: 11,268,713 (GRCm39) |
P1009L |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,276,578 (GRCm39) |
|
probably null |
Het |
| Crlf3 |
A |
T |
11: 79,947,427 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
C |
9: 106,788,685 (GRCm39) |
|
probably benign |
Het |
| Dus1l |
A |
T |
11: 120,683,634 (GRCm39) |
|
probably benign |
Het |
| Dvl2 |
G |
A |
11: 69,898,926 (GRCm39) |
E438K |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,809,049 (GRCm39) |
F85S |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,204,224 (GRCm39) |
M456V |
probably benign |
Het |
| Fbxo47 |
G |
A |
11: 97,748,481 (GRCm39) |
|
probably benign |
Het |
| Galntl5 |
A |
G |
5: 25,391,070 (GRCm39) |
|
probably null |
Het |
| Gm11437 |
T |
C |
11: 84,039,462 (GRCm39) |
T288A |
possibly damaging |
Het |
| Gm5546 |
T |
A |
3: 104,260,448 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfb |
C |
A |
14: 47,054,912 (GRCm39) |
A11S |
probably benign |
Het |
| Hnrnpa3 |
G |
T |
2: 75,492,040 (GRCm39) |
R52L |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,952,170 (GRCm39) |
M48T |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,741,356 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,053,383 (GRCm39) |
|
probably null |
Het |
| Pex3 |
A |
G |
10: 13,411,338 (GRCm39) |
V180A |
probably benign |
Het |
| Pou6f1 |
G |
A |
15: 100,485,717 (GRCm39) |
Q106* |
probably null |
Het |
| Ror2 |
T |
C |
13: 53,267,110 (GRCm39) |
M442V |
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,328,315 (GRCm39) |
V244A |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,115,212 (GRCm39) |
|
probably benign |
Het |
| Sgcz |
A |
G |
8: 38,012,596 (GRCm39) |
|
probably benign |
Het |
| Slc16a7 |
A |
T |
10: 125,063,939 (GRCm39) |
V466D |
probably benign |
Het |
| Tbl1xr1 |
T |
A |
3: 22,243,949 (GRCm39) |
D74E |
probably benign |
Het |
| Ube3b |
G |
T |
5: 114,546,278 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,080 (GRCm39) |
S184P |
probably benign |
Het |
|
| Other mutations in Acp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02580:Acp3
|
APN |
9 |
104,204,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02994:Acp3
|
APN |
9 |
104,186,602 (GRCm39) |
splice site |
probably benign |
|
|
IGL03069:Acp3
|
APN |
9 |
104,197,204 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0076:Acp3
|
UTSW |
9 |
104,201,417 (GRCm39) |
splice site |
probably benign |
|
|
R0084:Acp3
|
UTSW |
9 |
104,191,564 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0098:Acp3
|
UTSW |
9 |
104,197,144 (GRCm39) |
splice site |
probably null |
|
|
R0119:Acp3
|
UTSW |
9 |
104,197,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0299:Acp3
|
UTSW |
9 |
104,197,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Acp3
|
UTSW |
9 |
104,191,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Acp3
|
UTSW |
9 |
104,197,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Acp3
|
UTSW |
9 |
104,197,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0964:Acp3
|
UTSW |
9 |
104,204,174 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1506:Acp3
|
UTSW |
9 |
104,201,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Acp3
|
UTSW |
9 |
104,197,200 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2019:Acp3
|
UTSW |
9 |
104,201,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3821:Acp3
|
UTSW |
9 |
104,201,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3822:Acp3
|
UTSW |
9 |
104,201,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4896:Acp3
|
UTSW |
9 |
104,184,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Acp3
|
UTSW |
9 |
104,204,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5257:Acp3
|
UTSW |
9 |
104,186,674 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5258:Acp3
|
UTSW |
9 |
104,186,674 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5519:Acp3
|
UTSW |
9 |
104,168,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5795:Acp3
|
UTSW |
9 |
104,186,688 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6909:Acp3
|
UTSW |
9 |
104,178,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7315:Acp3
|
UTSW |
9 |
104,193,423 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7349:Acp3
|
UTSW |
9 |
104,168,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7792:Acp3
|
UTSW |
9 |
104,204,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Acp3
|
UTSW |
9 |
104,204,174 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8455:Acp3
|
UTSW |
9 |
104,204,174 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9556:Acp3
|
UTSW |
9 |
104,197,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Acp3
|
UTSW |
9 |
104,191,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATCTGTAAGTCCCCAGGAGCC -3'
(R):5'- TGGAACAGCACTACGAACTTGGAAG -3'
Sequencing Primer
(F):5'- CCTGGATTACCCAGGATACTG -3'
(R):5'- CAACTGTTGGACTACAGATTGCC -3'
|
| Posted On |
2014-07-09 |
Incidental Mutation