Incidental Mutation 'R5064:Plppr1'
| ID |
388251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plppr1
|
| Ensembl Gene |
ENSMUSG00000063446 |
| Gene Name |
phospholipid phosphatase related 1 |
| Synonyms |
E130309F12Rik, PRG-3, Lppr1 |
| MMRRC Submission |
042654-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.359)
|
| Stock # |
R5064 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
49059273-49340259 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49319974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 200
(H200L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076670]
|
| AlphaFold |
Q8BFZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076670
AA Change: H200L
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000075966
Gene: ENSMUSG00000063446
AA Change: H200L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
acidPPc
|
128 |
272 |
4.47e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.2619 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.1%
|
| Validation Efficiency |
100% (44/44) |
| 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 plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,340,119 (GRCm39) |
V1082A |
probably damaging |
Het |
| Adamts7 |
T |
A |
9: 90,077,883 (GRCm39) |
Y1496N |
probably damaging |
Het |
| Ascl2 |
T |
C |
7: 142,521,996 (GRCm39) |
N151D |
possibly damaging |
Het |
| Asxl3 |
G |
T |
18: 22,649,076 (GRCm39) |
S355I |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,448,278 (GRCm39) |
Q127R |
probably damaging |
Het |
| Efhc1 |
T |
A |
1: 21,045,187 (GRCm39) |
I401N |
possibly damaging |
Het |
| Eml6 |
C |
T |
11: 29,699,300 (GRCm39) |
V1818I |
probably benign |
Het |
| Grin1 |
G |
T |
2: 25,193,843 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,140,100 (GRCm39) |
R244H |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mllt6 |
C |
A |
11: 97,564,775 (GRCm39) |
A527E |
probably damaging |
Het |
| Msh5 |
G |
T |
17: 35,262,759 (GRCm39) |
|
probably benign |
Het |
| Mypn |
T |
A |
10: 62,959,150 (GRCm39) |
D1057V |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,469,167 (GRCm39) |
|
probably null |
Het |
| Nat8l |
T |
C |
5: 34,154,213 (GRCm39) |
V9A |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,565,410 (GRCm39) |
I247V |
probably benign |
Het |
| Nr1h2 |
G |
A |
7: 44,201,073 (GRCm39) |
A219V |
possibly damaging |
Het |
| Nup155 |
C |
A |
15: 8,165,354 (GRCm39) |
H663Q |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,292,566 (GRCm39) |
Y1339C |
probably damaging |
Het |
| Por |
T |
C |
5: 135,762,649 (GRCm39) |
V421A |
probably benign |
Het |
| Pxylp1 |
T |
G |
9: 96,736,853 (GRCm39) |
|
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,448 (GRCm39) |
V74I |
probably benign |
Het |
| Sfxn1 |
T |
C |
13: 54,239,588 (GRCm39) |
I37T |
probably benign |
Het |
| Thsd7a |
G |
T |
6: 12,330,951 (GRCm39) |
T1397N |
possibly damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,785,946 (GRCm39) |
|
probably null |
Het |
| Vmn1r55 |
A |
T |
7: 5,149,928 (GRCm39) |
M165K |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,486,534 (GRCm39) |
M787K |
probably damaging |
Het |
| Vta1 |
G |
T |
10: 14,581,222 (GRCm39) |
|
probably benign |
Het |
| Wdr87-ps |
A |
G |
7: 29,235,080 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp236 |
A |
G |
18: 82,709,701 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Plppr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01980:Plppr1
|
APN |
4 |
49,319,992 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
PIT4403001:Plppr1
|
UTSW |
4 |
49,337,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0605:Plppr1
|
UTSW |
4 |
49,323,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1381:Plppr1
|
UTSW |
4 |
49,337,674 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1452:Plppr1
|
UTSW |
4 |
49,301,067 (GRCm39) |
splice site |
probably benign |
|
|
R1682:Plppr1
|
UTSW |
4 |
49,325,617 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1980:Plppr1
|
UTSW |
4 |
49,337,655 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4261:Plppr1
|
UTSW |
4 |
49,300,993 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4674:Plppr1
|
UTSW |
4 |
49,323,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5144:Plppr1
|
UTSW |
4 |
49,319,800 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7545:Plppr1
|
UTSW |
4 |
49,320,002 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7823:Plppr1
|
UTSW |
4 |
49,325,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8049:Plppr1
|
UTSW |
4 |
49,300,942 (GRCm39) |
missense |
probably benign |
|
|
R8902:Plppr1
|
UTSW |
4 |
49,319,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Plppr1
|
UTSW |
4 |
49,325,627 (GRCm39) |
nonsense |
probably null |
|
|
R9775:Plppr1
|
UTSW |
4 |
49,323,435 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z1177:Plppr1
|
UTSW |
4 |
49,319,995 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Plppr1
|
UTSW |
4 |
49,319,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTAAACGCGGGGCAAG -3'
(R):5'- GGCTTATCAACAGTGTGATATGATG -3'
Sequencing Primer
(F):5'- AGTCGTCACTGGTCACCTAAC -3'
(R):5'- CCTCTGATACATATGCAGCTGGAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation