Incidental Mutation 'R1576:Pla2g4d'
ID |
171149 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g4d
|
Ensembl Gene |
ENSMUSG00000070719 |
Gene Name |
phospholipase A2, group IVD |
Synonyms |
Pla2delta, 2610311B01Rik |
MMRRC Submission |
039614-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R1576 (G1)
|
Quality Score |
161 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120096347-120119678 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120114648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 28
(S28P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092252
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094665]
|
AlphaFold |
Q50L43 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094665
AA Change: S28P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092252 Gene: ENSMUSG00000070719 AA Change: S28P
Domain | Start | End | E-Value | Type |
C2
|
32 |
132 |
1.12e-18 |
SMART |
PLAc
|
263 |
766 |
3.36e-11 |
SMART |
|
Meta Mutation Damage Score |
0.2774 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
Validation Efficiency |
100% (49/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3m2 |
G |
A |
8: 23,298,483 (GRCm39) |
|
probably benign |
Het |
Apol11a |
T |
A |
15: 77,401,131 (GRCm39) |
I206N |
probably damaging |
Het |
Arfgap3 |
A |
G |
15: 83,197,764 (GRCm39) |
S331P |
possibly damaging |
Het |
Arhgef16 |
A |
C |
4: 154,375,769 (GRCm39) |
L75R |
probably damaging |
Het |
Cfi |
T |
C |
3: 129,666,699 (GRCm39) |
V474A |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,643,145 (GRCm39) |
V739A |
probably damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,495,798 (GRCm39) |
H640L |
probably benign |
Het |
Eif4g3 |
T |
A |
4: 137,824,181 (GRCm39) |
M57K |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,562,112 (GRCm39) |
|
probably null |
Het |
Epc1 |
T |
C |
18: 6,452,366 (GRCm39) |
E281G |
possibly damaging |
Het |
Fancd2 |
G |
T |
6: 113,555,366 (GRCm39) |
S1125I |
probably damaging |
Het |
Fh1 |
G |
A |
1: 175,435,385 (GRCm39) |
P366L |
probably null |
Het |
Gata3 |
A |
T |
2: 9,868,007 (GRCm39) |
S316T |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,532,992 (GRCm39) |
S3064T |
possibly damaging |
Het |
Inpp5d |
A |
T |
1: 87,597,407 (GRCm39) |
T193S |
probably benign |
Het |
Inpp5d |
A |
T |
1: 87,609,280 (GRCm39) |
I277F |
probably damaging |
Het |
Itga5 |
T |
C |
15: 103,260,044 (GRCm39) |
D616G |
probably damaging |
Het |
Jade1 |
T |
A |
3: 41,546,242 (GRCm39) |
V89E |
probably damaging |
Het |
Lamb2 |
T |
C |
9: 108,357,506 (GRCm39) |
S81P |
probably damaging |
Het |
Lrrc19 |
G |
A |
4: 94,527,590 (GRCm39) |
P207L |
probably damaging |
Het |
Maea |
A |
G |
5: 33,520,040 (GRCm39) |
D147G |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,214,437 (GRCm39) |
E2767V |
possibly damaging |
Het |
Myom2 |
A |
G |
8: 15,134,556 (GRCm39) |
Y453C |
probably damaging |
Het |
Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
Nap1l1 |
A |
G |
10: 111,330,681 (GRCm39) |
D362G |
probably damaging |
Het |
Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
Nudt21 |
A |
C |
8: 94,755,461 (GRCm39) |
|
probably null |
Het |
Nufip1 |
A |
G |
14: 76,372,310 (GRCm39) |
N475D |
probably benign |
Het |
Pcdhb8 |
A |
G |
18: 37,489,756 (GRCm39) |
D478G |
probably damaging |
Het |
Polr2j |
C |
A |
5: 136,148,882 (GRCm39) |
N29K |
probably damaging |
Het |
Ppp2r2a |
A |
G |
14: 67,276,318 (GRCm39) |
|
probably benign |
Het |
Ptprk |
A |
G |
10: 28,427,647 (GRCm39) |
D742G |
probably damaging |
Het |
Pum2 |
A |
G |
12: 8,763,524 (GRCm39) |
D227G |
probably benign |
Het |
Rfxank |
C |
A |
8: 70,586,953 (GRCm39) |
R221L |
possibly damaging |
Het |
Shank3 |
C |
A |
15: 89,387,866 (GRCm39) |
Q317K |
probably benign |
Het |
Slc22a17 |
A |
G |
14: 55,145,447 (GRCm39) |
V460A |
probably damaging |
Het |
Slc39a11 |
G |
T |
11: 113,450,361 (GRCm39) |
D41E |
probably damaging |
Het |
Spag17 |
T |
C |
3: 99,846,679 (GRCm39) |
S68P |
possibly damaging |
Het |
Sstr5 |
C |
T |
17: 25,710,272 (GRCm39) |
C319Y |
possibly damaging |
Het |
Stk17b |
G |
T |
1: 53,796,749 (GRCm39) |
D339E |
probably damaging |
Het |
Tagln2 |
A |
G |
1: 172,332,788 (GRCm39) |
D25G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,625,194 (GRCm39) |
V13417I |
probably benign |
Het |
Vps50 |
A |
G |
6: 3,545,568 (GRCm39) |
E334G |
possibly damaging |
Het |
Zfp316 |
T |
C |
5: 143,249,849 (GRCm39) |
E138G |
unknown |
Het |
Zfp879 |
T |
A |
11: 50,724,376 (GRCm39) |
T227S |
probably benign |
Het |
|
Other mutations in Pla2g4d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01295:Pla2g4d
|
APN |
2 |
120,112,207 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01405:Pla2g4d
|
APN |
2 |
120,097,304 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01642:Pla2g4d
|
APN |
2 |
120,111,117 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01657:Pla2g4d
|
APN |
2 |
120,105,768 (GRCm39) |
missense |
possibly damaging |
0.91 |
BB001:Pla2g4d
|
UTSW |
2 |
120,119,645 (GRCm39) |
start gained |
probably benign |
|
R0962:Pla2g4d
|
UTSW |
2 |
120,111,098 (GRCm39) |
critical splice donor site |
probably null |
|
R1564:Pla2g4d
|
UTSW |
2 |
120,099,384 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1667:Pla2g4d
|
UTSW |
2 |
120,100,631 (GRCm39) |
splice site |
probably benign |
|
R1680:Pla2g4d
|
UTSW |
2 |
120,108,231 (GRCm39) |
critical splice donor site |
probably null |
|
R1712:Pla2g4d
|
UTSW |
2 |
120,107,971 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2253:Pla2g4d
|
UTSW |
2 |
120,101,622 (GRCm39) |
missense |
probably damaging |
0.99 |
R2919:Pla2g4d
|
UTSW |
2 |
120,112,108 (GRCm39) |
splice site |
probably benign |
|
R3122:Pla2g4d
|
UTSW |
2 |
120,109,384 (GRCm39) |
missense |
probably benign |
0.03 |
R4420:Pla2g4d
|
UTSW |
2 |
120,114,644 (GRCm39) |
missense |
probably benign |
|
R4737:Pla2g4d
|
UTSW |
2 |
120,097,271 (GRCm39) |
missense |
probably benign |
0.00 |
R4829:Pla2g4d
|
UTSW |
2 |
120,097,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R5032:Pla2g4d
|
UTSW |
2 |
120,112,176 (GRCm39) |
nonsense |
probably null |
|
R5530:Pla2g4d
|
UTSW |
2 |
120,100,036 (GRCm39) |
missense |
probably benign |
0.06 |
R5677:Pla2g4d
|
UTSW |
2 |
120,109,429 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6087:Pla2g4d
|
UTSW |
2 |
120,100,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R6088:Pla2g4d
|
UTSW |
2 |
120,100,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R6150:Pla2g4d
|
UTSW |
2 |
120,100,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R6930:Pla2g4d
|
UTSW |
2 |
120,101,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R7240:Pla2g4d
|
UTSW |
2 |
120,100,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R7284:Pla2g4d
|
UTSW |
2 |
120,114,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R7339:Pla2g4d
|
UTSW |
2 |
120,109,459 (GRCm39) |
missense |
probably benign |
|
R7552:Pla2g4d
|
UTSW |
2 |
120,114,620 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7607:Pla2g4d
|
UTSW |
2 |
120,119,457 (GRCm39) |
missense |
probably benign |
|
R7692:Pla2g4d
|
UTSW |
2 |
120,109,776 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7860:Pla2g4d
|
UTSW |
2 |
120,097,211 (GRCm39) |
missense |
probably benign |
0.13 |
R7924:Pla2g4d
|
UTSW |
2 |
120,119,645 (GRCm39) |
start gained |
probably benign |
|
R7972:Pla2g4d
|
UTSW |
2 |
120,109,413 (GRCm39) |
missense |
probably benign |
0.04 |
R8373:Pla2g4d
|
UTSW |
2 |
120,107,980 (GRCm39) |
missense |
probably null |
1.00 |
R8737:Pla2g4d
|
UTSW |
2 |
120,100,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R8752:Pla2g4d
|
UTSW |
2 |
120,099,248 (GRCm39) |
critical splice donor site |
probably null |
|
R8987:Pla2g4d
|
UTSW |
2 |
120,100,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R9221:Pla2g4d
|
UTSW |
2 |
120,100,453 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9251:Pla2g4d
|
UTSW |
2 |
120,099,378 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9740:Pla2g4d
|
UTSW |
2 |
120,107,952 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Pla2g4d
|
UTSW |
2 |
120,107,952 (GRCm39) |
missense |
probably damaging |
0.99 |
X0028:Pla2g4d
|
UTSW |
2 |
120,112,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGACAACCCCAGTATCCCCTGAG -3'
(R):5'- TCGAGAGTAGGCTGTGCCAACAAG -3'
Sequencing Primer
(F):5'- GTATCCCCTGAGAGCAGCTAAG -3'
(R):5'- AATTGAGATTCTGTCCCTCAATCAC -3'
|
Posted On |
2014-04-13 |