Incidental Mutation 'R2253:Pla2g4d'
ID |
241792 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g4d
|
Ensembl Gene |
ENSMUSG00000070719 |
Gene Name |
phospholipase A2, group IVD |
Synonyms |
Pla2delta, 2610311B01Rik |
MMRRC Submission |
040253-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R2253 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120096347-120119678 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120101622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 453
(K453E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092252
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094665]
|
AlphaFold |
Q50L43 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094665
AA Change: K453E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000092252 Gene: ENSMUSG00000070719 AA Change: K453E
Domain | Start | End | E-Value | Type |
C2
|
32 |
132 |
1.12e-18 |
SMART |
PLAc
|
263 |
766 |
3.36e-11 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
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 |
1700129C05Rik |
G |
A |
14: 59,380,061 (GRCm39) |
S79F |
probably damaging |
Het |
Acss3 |
G |
A |
10: 106,840,609 (GRCm39) |
A384V |
probably damaging |
Het |
Aff2 |
G |
A |
X: 68,878,409 (GRCm39) |
E732K |
possibly damaging |
Het |
Atp12a |
A |
G |
14: 56,613,715 (GRCm39) |
T496A |
probably benign |
Het |
B3gnt3 |
A |
T |
8: 72,145,462 (GRCm39) |
M302K |
probably damaging |
Het |
Bptf |
G |
T |
11: 107,002,148 (GRCm39) |
D321E |
probably damaging |
Het |
C1ql3 |
C |
T |
2: 13,015,130 (GRCm39) |
V177I |
possibly damaging |
Het |
C2cd5 |
A |
T |
6: 142,982,042 (GRCm39) |
Y607* |
probably null |
Het |
Casp3 |
G |
T |
8: 47,090,990 (GRCm39) |
W214L |
probably damaging |
Het |
Cd248 |
A |
G |
19: 5,118,154 (GRCm39) |
M1V |
probably null |
Het |
Cdh18 |
A |
G |
15: 23,410,891 (GRCm39) |
T405A |
probably benign |
Het |
Cldn24 |
G |
T |
8: 48,275,363 (GRCm39) |
R62S |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,489,814 (GRCm39) |
V463A |
probably benign |
Het |
Cul2 |
A |
T |
18: 3,399,876 (GRCm39) |
L3F |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,866,957 (GRCm39) |
N1062K |
unknown |
Het |
Gch1 |
T |
C |
14: 47,426,798 (GRCm39) |
|
probably benign |
Het |
Gzf1 |
T |
C |
2: 148,525,856 (GRCm39) |
M109T |
probably damaging |
Het |
Itch |
T |
A |
2: 155,054,259 (GRCm39) |
M701K |
probably benign |
Het |
Kank4 |
A |
T |
4: 98,667,463 (GRCm39) |
I328N |
probably damaging |
Het |
Krt9 |
A |
T |
11: 100,081,685 (GRCm39) |
N281K |
possibly damaging |
Het |
Lgals12 |
T |
A |
19: 7,584,130 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
T |
C |
11: 103,392,293 (GRCm39) |
Q1044R |
probably benign |
Het |
Mbtps2 |
A |
T |
X: 156,342,029 (GRCm39) |
F270L |
probably benign |
Het |
Nr3c1 |
G |
T |
18: 39,619,804 (GRCm39) |
T161K |
probably benign |
Het |
Or2w3b |
T |
C |
11: 58,623,821 (GRCm39) |
T57A |
probably benign |
Het |
Or4g16 |
A |
G |
2: 111,136,655 (GRCm39) |
Y35C |
probably damaging |
Het |
Or5ak20 |
A |
G |
2: 85,184,202 (GRCm39) |
S23P |
possibly damaging |
Het |
Or5b116 |
T |
C |
19: 13,422,549 (GRCm39) |
Y58H |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,554,246 (GRCm39) |
N69S |
probably benign |
Het |
Prl3d1 |
T |
C |
13: 27,278,981 (GRCm39) |
Y59H |
possibly damaging |
Het |
Rnf133 |
T |
C |
6: 23,649,174 (GRCm39) |
M252V |
probably benign |
Het |
Rnf181 |
G |
T |
6: 72,338,467 (GRCm39) |
H14N |
possibly damaging |
Het |
Sash1 |
A |
T |
10: 8,605,741 (GRCm39) |
M883K |
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Slc13a4 |
A |
G |
6: 35,257,418 (GRCm39) |
V240A |
probably benign |
Het |
Slc2a5 |
T |
C |
4: 150,224,447 (GRCm39) |
Y315H |
possibly damaging |
Het |
Slc7a2 |
T |
C |
8: 41,358,658 (GRCm39) |
Y334H |
probably benign |
Het |
Spib |
A |
G |
7: 44,179,392 (GRCm39) |
S23P |
probably benign |
Het |
Tbc1d1 |
A |
G |
5: 64,442,143 (GRCm39) |
N721S |
probably benign |
Het |
Tcf25 |
A |
G |
8: 124,100,772 (GRCm39) |
E54G |
probably benign |
Het |
Tesl2 |
G |
A |
X: 23,824,950 (GRCm39) |
A75V |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,853,563 (GRCm39) |
H131R |
probably benign |
Het |
Vmn2r6 |
C |
T |
3: 64,467,139 (GRCm39) |
C120Y |
probably damaging |
Het |
Zdhhc18 |
A |
T |
4: 133,360,388 (GRCm39) |
|
probably null |
Het |
Zfp970 |
T |
A |
2: 177,166,614 (GRCm39) |
|
probably null |
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 |
R1576:Pla2g4d
|
UTSW |
2 |
120,114,648 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TATCCCTGTCCACATGCACAG -3'
(R):5'- TATGGAGCTGCTCAGAGCTG -3'
Sequencing Primer
(F):5'- CCGGGCTCTGTGATACTGAATTC -3'
(R):5'- TCAGAGCTGGCTGCACAC -3'
|
Posted On |
2014-10-16 |