Incidental Mutation 'R6777:Pla2g2c'
ID |
531331 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g2c
|
Ensembl Gene |
ENSMUSG00000028750 |
Gene Name |
phospholipase A2, group IIC |
Synonyms |
|
MMRRC Submission |
044893-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6777 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
138452636-138471886 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 138470976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 119
(V119A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101434
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030530]
[ENSMUST00000105808]
[ENSMUST00000124660]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030530
AA Change: V119A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000030530 Gene: ENSMUSG00000028750 AA Change: V119A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
PA2c
|
21 |
143 |
1.83e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105808
AA Change: V119A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000101434 Gene: ENSMUSG00000028750 AA Change: V119A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
PA2c
|
21 |
143 |
1.83e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124660
AA Change: V119A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000124341 Gene: ENSMUSG00000028750 AA Change: V119A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
PA2c
|
21 |
128 |
1.4e-37 |
SMART |
|
Meta Mutation Damage Score |
0.1282 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
A |
T |
7: 12,246,756 (GRCm39) |
L45F |
probably benign |
Het |
Adam7 |
T |
C |
14: 68,762,784 (GRCm39) |
Y147C |
probably damaging |
Het |
Adss2 |
A |
T |
1: 177,603,902 (GRCm39) |
|
probably null |
Het |
Atp2c1 |
T |
A |
9: 105,295,799 (GRCm39) |
I812L |
possibly damaging |
Het |
Capn2 |
A |
G |
1: 182,297,742 (GRCm39) |
|
probably null |
Het |
Crybg3 |
A |
G |
16: 59,378,678 (GRCm39) |
|
probably benign |
Het |
Cux1 |
C |
G |
5: 136,594,422 (GRCm39) |
|
probably benign |
Het |
Dkk2 |
T |
A |
3: 131,879,572 (GRCm39) |
C84S |
probably damaging |
Het |
Eml3 |
T |
C |
19: 8,914,086 (GRCm39) |
V128A |
probably benign |
Het |
Fzr1 |
A |
G |
10: 81,206,327 (GRCm39) |
Y148H |
probably damaging |
Het |
Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
Ganc |
A |
G |
2: 120,274,630 (GRCm39) |
T584A |
probably damaging |
Het |
Gldc |
T |
C |
19: 30,110,912 (GRCm39) |
T564A |
probably damaging |
Het |
Gm49359 |
A |
T |
13: 62,603,006 (GRCm39) |
C65S |
probably benign |
Het |
Hspa12a |
A |
G |
19: 58,810,519 (GRCm39) |
Y175H |
probably benign |
Het |
Ly6g |
A |
G |
15: 75,030,431 (GRCm39) |
D60G |
probably benign |
Het |
Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
Pex1 |
T |
A |
5: 3,672,358 (GRCm39) |
C694S |
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,353,446 (GRCm39) |
F676L |
probably benign |
Het |
Ralgps2 |
A |
G |
1: 156,715,515 (GRCm39) |
|
probably null |
Het |
Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
Serpina3c |
T |
C |
12: 104,118,069 (GRCm39) |
K90E |
probably benign |
Het |
Slc24a3 |
A |
G |
2: 145,482,202 (GRCm39) |
Y620C |
probably damaging |
Het |
Smg1 |
C |
A |
7: 117,788,340 (GRCm39) |
|
probably benign |
Het |
Srp68 |
A |
T |
11: 116,153,730 (GRCm39) |
V198E |
probably damaging |
Het |
Ssx2ip |
C |
T |
3: 146,144,476 (GRCm39) |
T580M |
possibly damaging |
Het |
Terf2 |
A |
G |
8: 107,797,169 (GRCm39) |
V434A |
possibly damaging |
Het |
Tmem242 |
G |
A |
17: 5,483,830 (GRCm39) |
P71S |
probably damaging |
Het |
Tmprss13 |
C |
T |
9: 45,247,399 (GRCm39) |
R254* |
probably null |
Het |
Trgv3 |
A |
G |
13: 19,427,450 (GRCm39) |
Y111C |
probably damaging |
Het |
|
Other mutations in Pla2g2c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01384:Pla2g2c
|
APN |
4 |
138,471,012 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02219:Pla2g2c
|
APN |
4 |
138,463,319 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03087:Pla2g2c
|
APN |
4 |
138,458,923 (GRCm39) |
missense |
probably benign |
0.03 |
R0047:Pla2g2c
|
UTSW |
4 |
138,470,901 (GRCm39) |
splice site |
probably benign |
|
R0047:Pla2g2c
|
UTSW |
4 |
138,470,901 (GRCm39) |
splice site |
probably benign |
|
R4491:Pla2g2c
|
UTSW |
4 |
138,461,719 (GRCm39) |
critical splice donor site |
probably null |
|
R4817:Pla2g2c
|
UTSW |
4 |
138,461,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R5257:Pla2g2c
|
UTSW |
4 |
138,458,856 (GRCm39) |
start gained |
probably benign |
|
R5360:Pla2g2c
|
UTSW |
4 |
138,461,656 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7346:Pla2g2c
|
UTSW |
4 |
138,461,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Pla2g2c
|
UTSW |
4 |
138,458,927 (GRCm39) |
missense |
probably benign |
0.39 |
R9083:Pla2g2c
|
UTSW |
4 |
138,463,378 (GRCm39) |
missense |
probably benign |
0.04 |
R9500:Pla2g2c
|
UTSW |
4 |
138,461,689 (GRCm39) |
nonsense |
probably null |
|
R9744:Pla2g2c
|
UTSW |
4 |
138,470,972 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Pla2g2c
|
UTSW |
4 |
138,461,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCAGCTCATTGCAGCAAGG -3'
(R):5'- TTCCAGGGCAGGAATTCTCC -3'
Sequencing Primer
(F):5'- CTCATTGCAGCAAGGAAGGATG -3'
(R):5'- AGGGCAGGAATTCTCCACCTC -3'
|
Posted On |
2018-08-29 |