Incidental Mutation 'R5192:Plppr2'
| ID |
405093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plppr2
|
| Ensembl Gene |
ENSMUSG00000040563 |
| Gene Name |
phospholipid phosphatase related 2 |
| Synonyms |
BC018242, Lppr2, PRG-4 |
| MMRRC Submission |
042768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R5192 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21848329-21860203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21852428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 104
(F104S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046371]
[ENSMUST00000188468]
[ENSMUST00000190387]
|
| AlphaFold |
Q8VCY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046371
AA Change: F129S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038616
Gene: ENSMUSG00000040563
AA Change: F129S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
acidPPc
|
130 |
281 |
2.31e-9 |
SMART |
|
low complexity region
|
363 |
422 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188468
AA Change: F104S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140166
Gene: ENSMUSG00000040563
AA Change: F104S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
acidPPc
|
105 |
256 |
1.1e-11 |
SMART |
|
low complexity region
|
338 |
397 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190387
AA Change: F129S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139727
Gene: ENSMUSG00000040563
AA Change: F129S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
acidPPc
|
130 |
281 |
2.31e-9 |
SMART |
|
low complexity region
|
322 |
336 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9118 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef25 |
A |
G |
10: 127,020,978 (GRCm39) |
S303P |
probably damaging |
Het |
| Babam1 |
T |
C |
8: 71,856,897 (GRCm39) |
V286A |
probably damaging |
Het |
| Becn2 |
A |
G |
1: 175,748,408 (GRCm39) |
D158G |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,968,075 (GRCm39) |
I853T |
probably benign |
Het |
| Cfap43 |
A |
T |
19: 47,814,364 (GRCm39) |
W157R |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,925,185 (GRCm39) |
T3883A |
possibly damaging |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxw19 |
T |
C |
9: 109,313,496 (GRCm39) |
Y234C |
probably benign |
Het |
| Gask1a |
T |
G |
9: 121,794,727 (GRCm39) |
S294A |
probably benign |
Het |
| Gm9988 |
T |
C |
8: 88,865,001 (GRCm39) |
|
probably benign |
Het |
| Gstm1 |
A |
G |
3: 107,922,259 (GRCm39) |
|
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,675,894 (GRCm39) |
K214N |
probably benign |
Het |
| Kat6a |
G |
A |
8: 23,401,729 (GRCm39) |
R366H |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,127 (GRCm39) |
T33A |
probably benign |
Het |
| Klrh1 |
T |
C |
6: 129,748,721 (GRCm39) |
T99A |
probably benign |
Het |
| Marchf10 |
T |
C |
11: 105,262,752 (GRCm39) |
H735R |
possibly damaging |
Het |
| Myo1g |
T |
C |
11: 6,464,816 (GRCm39) |
D486G |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or5d46 |
A |
G |
2: 88,170,092 (GRCm39) |
Y61C |
possibly damaging |
Het |
| Or8b1 |
T |
C |
9: 38,400,101 (GRCm39) |
Y259H |
possibly damaging |
Het |
| Pif1 |
G |
T |
9: 65,495,374 (GRCm39) |
A95S |
probably benign |
Het |
| Prep |
T |
C |
10: 45,029,207 (GRCm39) |
Y536H |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Tmtc2 |
G |
A |
10: 105,026,038 (GRCm39) |
P810L |
probably damaging |
Het |
| Tollip |
C |
T |
7: 141,445,854 (GRCm39) |
R9H |
probably damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,077,363 (GRCm39) |
S268T |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,120,497 (GRCm39) |
V472A |
possibly damaging |
Het |
| Zfp608 |
C |
A |
18: 55,031,569 (GRCm39) |
K790N |
probably damaging |
Het |
| Zfp661 |
A |
G |
2: 127,418,982 (GRCm39) |
V386A |
possibly damaging |
Het |
|
| Other mutations in Plppr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01832:Plppr2
|
APN |
9 |
21,854,742 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0630:Plppr2
|
UTSW |
9 |
21,859,197 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1418:Plppr2
|
UTSW |
9 |
21,859,085 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1682:Plppr2
|
UTSW |
9 |
21,855,717 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1813:Plppr2
|
UTSW |
9 |
21,859,220 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1830:Plppr2
|
UTSW |
9 |
21,859,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Plppr2
|
UTSW |
9 |
21,852,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4807:Plppr2
|
UTSW |
9 |
21,855,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Plppr2
|
UTSW |
9 |
21,852,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5205:Plppr2
|
UTSW |
9 |
21,852,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5568:Plppr2
|
UTSW |
9 |
21,852,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5657:Plppr2
|
UTSW |
9 |
21,858,911 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6273:Plppr2
|
UTSW |
9 |
21,855,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Plppr2
|
UTSW |
9 |
21,855,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7993:Plppr2
|
UTSW |
9 |
21,858,258 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8151:Plppr2
|
UTSW |
9 |
21,852,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8807:Plppr2
|
UTSW |
9 |
21,855,727 (GRCm39) |
small deletion |
probably benign |
|
|
R8808:Plppr2
|
UTSW |
9 |
21,855,727 (GRCm39) |
small deletion |
probably benign |
|
|
R8809:Plppr2
|
UTSW |
9 |
21,855,727 (GRCm39) |
small deletion |
probably benign |
|
|
R9648:Plppr2
|
UTSW |
9 |
21,852,379 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9776:Plppr2
|
UTSW |
9 |
21,859,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGTAGAACCTCCCAGAATG -3'
(R):5'- ATCCAACTCATGCCAGGCAG -3'
Sequencing Primer
(F):5'- TGGAGCCCTGGACTTGAAG -3'
(R):5'- GCAGGCTTGGTGGCAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation