Incidental Mutation 'R8455:Acp3'
| ID |
654981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acp3
|
| Ensembl Gene |
ENSMUSG00000032561 |
| Gene Name |
acid phosphatase 3 |
| Synonyms |
A030005E02Rik, Acpp, PAP |
| MMRRC Submission |
067832-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R8455 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
104165439-104214921 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104204174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 40
(V40A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062723]
[ENSMUST00000112590]
[ENSMUST00000215852]
|
| AlphaFold |
Q8CE08 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062723
AA Change: V40A
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000059889
Gene: ENSMUSG00000032561
AA Change: V40A
| 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 |
possibly damaging
Transcript: ENSMUST00000112590
AA Change: V40A
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108209
Gene: ENSMUSG00000032561
AA Change: V40A
| 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 |
possibly damaging
Transcript: ENSMUST00000215852
AA Change: V40A
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.2385 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra1 |
T |
A |
7: 139,455,567 (GRCm39) |
C398* |
probably null |
Het |
| Amy2a1 |
T |
A |
3: 113,324,045 (GRCm39) |
D165V |
probably benign |
Het |
| Atf6b |
A |
G |
17: 34,867,197 (GRCm39) |
D63G |
probably benign |
Het |
| BC024139 |
T |
C |
15: 76,004,007 (GRCm39) |
D753G |
probably benign |
Het |
| Dnah3 |
T |
G |
7: 119,551,431 (GRCm39) |
T2963P |
probably damaging |
Het |
| Fanci |
G |
T |
7: 79,085,029 (GRCm39) |
L818F |
probably damaging |
Het |
| Gm4559 |
C |
A |
7: 141,827,694 (GRCm39) |
C136F |
unknown |
Het |
| Gm45844 |
G |
A |
7: 7,281,221 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
T |
A |
5: 25,559,499 (GRCm39) |
|
probably null |
Het |
| Lpo |
G |
A |
11: 87,705,114 (GRCm39) |
L407F |
probably damaging |
Het |
| Mus81 |
T |
C |
19: 5,534,220 (GRCm39) |
Y366C |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,364,528 (GRCm39) |
D1292G |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,132,800 (GRCm39) |
I309N |
probably damaging |
Het |
| Nufip2 |
C |
T |
11: 77,583,259 (GRCm39) |
T391I |
probably damaging |
Het |
| Or5g25 |
T |
A |
2: 85,478,485 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7e177 |
A |
G |
9: 20,211,715 (GRCm39) |
Y74C |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,224,069 (GRCm39) |
V935E |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,422,846 (GRCm39) |
I994M |
probably benign |
Het |
| Sgcz |
T |
C |
8: 38,190,239 (GRCm39) |
I96V |
probably benign |
Het |
| Tmem108 |
A |
G |
9: 103,377,069 (GRCm39) |
S127P |
possibly damaging |
Het |
| Tmem178b |
G |
A |
6: 40,231,869 (GRCm39) |
V168I |
unknown |
Het |
| Tut1 |
T |
C |
19: 8,936,626 (GRCm39) |
V150A |
probably benign |
Het |
| Txnl4a |
T |
A |
18: 80,250,539 (GRCm39) |
L45Q |
probably damaging |
Het |
| V1ra8 |
C |
T |
6: 90,180,447 (GRCm39) |
R217W |
probably damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,352 (GRCm39) |
T255A |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,259,848 (GRCm39) |
|
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 |
|
|
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 |
|
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'- TCAGCGGGATAAATACATCAAAGTG -3'
(R):5'- TTCCCAGTGGTCAGTTAGCTTG -3'
Sequencing Primer
(F):5'- TCAAGGTCAGCTTCAAGGTC -3'
(R):5'- GACTGGTACCCTTGGTCATAAAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation