Incidental Mutation 'R5255:Acp6'
| ID |
399457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acp6
|
| Ensembl Gene |
ENSMUSG00000028093 |
| Gene Name |
acid phosphatase 6, lysophosphatidic |
| Synonyms |
5730559A09Rik, ACPL1, mPACPL1 |
| MMRRC Submission |
042826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R5255 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
97066070-97083892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97075312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 182
(V182A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090759]
|
| AlphaFold |
Q8BP40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090759
AA Change: V182A
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000088263
Gene: ENSMUSG00000028093
AA Change: V182A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
42 |
228 |
4.6e-20 |
PFAM |
|
Pfam:His_Phos_2
|
245 |
371 |
8e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149900
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the histidine acid phosphatase protein family. The encoded protein hydrolyzes lysophosphatidic acid, which is involved in G protein-coupled receptor signaling, lipid raft modulation, and in balancing lipid composition within the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2016]
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
T |
17: 36,270,629 (GRCm39) |
|
probably null |
Het |
| Abr |
T |
A |
11: 76,346,509 (GRCm39) |
E434V |
probably damaging |
Het |
| Acaca |
T |
A |
11: 84,202,133 (GRCm39) |
L197Q |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,018 (GRCm39) |
I241T |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,739,812 (GRCm39) |
T1420I |
possibly damaging |
Het |
| Akr1c6 |
A |
T |
13: 4,497,018 (GRCm39) |
K153N |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,721,030 (GRCm39) |
L600P |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,624,447 (GRCm39) |
A824T |
probably damaging |
Het |
| B230307C23Rik |
T |
A |
16: 97,809,891 (GRCm39) |
N22K |
possibly damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,648,324 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,404,824 (GRCm39) |
T352I |
possibly damaging |
Het |
| Ces4a |
C |
A |
8: 105,869,121 (GRCm39) |
F185L |
probably benign |
Het |
| Clybl |
A |
C |
14: 122,621,691 (GRCm39) |
E293A |
probably benign |
Het |
| Cobl |
A |
G |
11: 12,325,825 (GRCm39) |
W217R |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,086,945 (GRCm39) |
N677S |
probably benign |
Het |
| Ddx51 |
C |
A |
5: 110,803,908 (GRCm39) |
T390N |
possibly damaging |
Het |
| Drd5 |
T |
G |
5: 38,477,310 (GRCm39) |
V101G |
probably damaging |
Het |
| Elmo3 |
C |
T |
8: 106,033,985 (GRCm39) |
P244L |
probably benign |
Het |
| Esrrg |
G |
A |
1: 187,878,555 (GRCm39) |
R189H |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,534,667 (GRCm39) |
T183A |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,613 (GRCm39) |
H155R |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,007,011 (GRCm39) |
|
probably null |
Het |
| Ints10 |
T |
C |
8: 69,246,624 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,667,209 (GRCm39) |
T413A |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,847,735 (GRCm39) |
V568A |
probably damaging |
Het |
| Mobp |
A |
G |
9: 119,997,419 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
G |
15: 78,294,708 (GRCm39) |
S147G |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,795,741 (GRCm39) |
Y559F |
possibly damaging |
Het |
| Nceh1 |
T |
C |
3: 27,237,288 (GRCm39) |
I21T |
probably damaging |
Het |
| Or4f7 |
T |
C |
2: 111,644,523 (GRCm39) |
K183E |
probably benign |
Het |
| Phf8-ps |
A |
T |
17: 33,285,739 (GRCm39) |
C354* |
probably null |
Het |
| Ralgps1 |
A |
T |
2: 33,166,171 (GRCm39) |
V126E |
probably damaging |
Het |
| Rnls |
A |
G |
19: 33,359,823 (GRCm39) |
V115A |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,108,013 (GRCm39) |
V1554D |
probably damaging |
Het |
| Slc16a11 |
T |
A |
11: 70,106,258 (GRCm39) |
D165E |
probably damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,353,501 (GRCm39) |
T23A |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc3a1 |
A |
T |
17: 85,335,881 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
A |
T |
14: 110,987,185 (GRCm39) |
*841K |
probably null |
Het |
| Syngr1 |
A |
G |
15: 79,975,647 (GRCm39) |
Y18C |
possibly damaging |
Het |
| Tarbp1 |
T |
G |
8: 127,155,709 (GRCm39) |
D1343A |
probably benign |
Het |
| Vac14 |
T |
A |
8: 111,360,961 (GRCm39) |
I177N |
probably damaging |
Het |
| Vmn1r218 |
A |
T |
13: 23,320,881 (GRCm39) |
D76V |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,838,277 (GRCm39) |
I62N |
probably damaging |
Het |
| Zfp12 |
A |
T |
5: 143,226,134 (GRCm39) |
I68L |
probably null |
Het |
| Zswim8 |
T |
A |
14: 20,771,719 (GRCm39) |
Y1551N |
probably damaging |
Het |
|
| Other mutations in Acp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Acp6
|
APN |
3 |
97,083,737 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01610:Acp6
|
APN |
3 |
97,083,036 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01655:Acp6
|
APN |
3 |
97,073,288 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01788:Acp6
|
APN |
3 |
97,073,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01845:Acp6
|
APN |
3 |
97,081,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02978:Acp6
|
APN |
3 |
97,073,875 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03180:Acp6
|
APN |
3 |
97,082,951 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0144:Acp6
|
UTSW |
3 |
97,073,145 (GRCm39) |
splice site |
probably benign |
|
|
R0471:Acp6
|
UTSW |
3 |
97,075,891 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1458:Acp6
|
UTSW |
3 |
97,081,104 (GRCm39) |
splice site |
probably benign |
|
|
R1889:Acp6
|
UTSW |
3 |
97,073,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1990:Acp6
|
UTSW |
3 |
97,083,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Acp6
|
UTSW |
3 |
97,075,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3786:Acp6
|
UTSW |
3 |
97,066,605 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3933:Acp6
|
UTSW |
3 |
97,073,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4271:Acp6
|
UTSW |
3 |
97,073,934 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4604:Acp6
|
UTSW |
3 |
97,083,075 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4864:Acp6
|
UTSW |
3 |
97,066,683 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4935:Acp6
|
UTSW |
3 |
97,079,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5076:Acp6
|
UTSW |
3 |
97,075,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5896:Acp6
|
UTSW |
3 |
97,075,810 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5959:Acp6
|
UTSW |
3 |
97,073,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Acp6
|
UTSW |
3 |
97,082,997 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6938:Acp6
|
UTSW |
3 |
97,082,949 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7593:Acp6
|
UTSW |
3 |
97,073,266 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8485:Acp6
|
UTSW |
3 |
97,066,302 (GRCm39) |
start gained |
probably benign |
|
|
R8796:Acp6
|
UTSW |
3 |
97,066,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8971:Acp6
|
UTSW |
3 |
97,078,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Acp6
|
UTSW |
3 |
97,073,273 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGCAAAGCAAAGCTGTTC -3'
(R):5'- ACGGAACCAATGCATAGCTC -3'
Sequencing Primer
(F):5'- GTGCAAAGCAAAGCTGTTCCTTTC -3'
(R):5'- ATGCATAGCTCAGACCTGTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation