Incidental Mutation 'R3122:Pla2g4d'
| ID |
264091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4d
|
| Ensembl Gene |
ENSMUSG00000070719 |
| Gene Name |
phospholipase A2, group IVD |
| Synonyms |
Pla2delta, 2610311B01Rik |
| MMRRC Submission |
040595-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R3122 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120265595-120289197 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120278903 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 222
(R222G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094665]
|
| AlphaFold |
Q50L43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094665
AA Change: R222G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719
AA Change: R222G
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
32 |
132 |
1.12e-18 |
SMART |
|
PLAc
|
263 |
766 |
3.36e-11 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (48/48) |
| 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 |
|---|
| Adam18 |
T |
C |
8: 24,628,232 (GRCm38) |
N8S |
possibly damaging |
Het |
| Ago3 |
A |
G |
4: 126,417,372 (GRCm38) |
I16T |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,667,963 (GRCm38) |
|
probably benign |
Het |
| Brdt |
A |
G |
5: 107,377,145 (GRCm38) |
T851A |
probably damaging |
Het |
| Capn7 |
A |
T |
14: 31,359,210 (GRCm38) |
I395F |
probably damaging |
Het |
| Ccbe1 |
A |
G |
18: 66,066,829 (GRCm38) |
M274T |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,294,593 (GRCm38) |
R864G |
possibly damaging |
Het |
| Ccdc17 |
G |
T |
4: 116,599,552 (GRCm38) |
|
probably benign |
Het |
| Ccdc85a |
C |
A |
11: 28,583,499 (GRCm38) |
C15F |
unknown |
Het |
| Cpt1c |
A |
G |
7: 44,959,921 (GRCm38) |
Y715H |
probably damaging |
Het |
| Dmwd |
T |
A |
7: 19,080,695 (GRCm38) |
F423L |
probably damaging |
Het |
| Dock3 |
C |
G |
9: 106,911,343 (GRCm38) |
A1598P |
probably damaging |
Het |
| Ext2 |
A |
G |
2: 93,813,825 (GRCm38) |
L37P |
probably damaging |
Het |
| Fam120a |
T |
C |
13: 48,892,086 (GRCm38) |
D758G |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,258,715 (GRCm38) |
T236A |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,358,686 (GRCm38) |
|
probably benign |
Het |
| Grik1 |
A |
T |
16: 88,006,473 (GRCm38) |
M277K |
probably damaging |
Het |
| H2-T23 |
T |
A |
17: 36,030,963 (GRCm38) |
M248L |
probably benign |
Het |
| Hephl1 |
A |
G |
9: 15,088,969 (GRCm38) |
F329S |
possibly damaging |
Het |
| Kif13a |
G |
A |
13: 46,764,596 (GRCm38) |
|
probably benign |
Het |
| Knl1 |
T |
A |
2: 119,068,944 (GRCm38) |
H375Q |
probably benign |
Het |
| Lox |
A |
G |
18: 52,525,105 (GRCm38) |
F332S |
probably damaging |
Het |
| Ltf |
G |
A |
9: 111,022,900 (GRCm38) |
C135Y |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,176,209 (GRCm38) |
Y347H |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,238,048 (GRCm38) |
Y387H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,348,431 (GRCm38) |
|
probably null |
Het |
| Naip1 |
T |
C |
13: 100,408,995 (GRCm38) |
T1342A |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,316,523 (GRCm38) |
D10G |
probably benign |
Het |
| Nudt8 |
A |
G |
19: 4,002,015 (GRCm38) |
R209G |
possibly damaging |
Het |
| Or4c31 |
G |
T |
2: 88,461,509 (GRCm38) |
M75I |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 105,086,178 (GRCm38) |
V154A |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,594,610 (GRCm38) |
Y73N |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,937,489 (GRCm38) |
P31S |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,059,573 (GRCm38) |
S131T |
possibly damaging |
Het |
| Phactr3 |
A |
G |
2: 178,331,618 (GRCm38) |
I475V |
probably damaging |
Het |
| Pip |
T |
A |
6: 41,851,885 (GRCm38) |
N121K |
probably damaging |
Het |
| Rbm42 |
A |
G |
7: 30,649,727 (GRCm38) |
|
probably benign |
Het |
| Sowahb |
T |
C |
5: 93,043,402 (GRCm38) |
D486G |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,087,845 (GRCm38) |
V1745I |
possibly damaging |
Het |
| Tnfsf15 |
T |
A |
4: 63,734,285 (GRCm38) |
E96D |
probably benign |
Het |
| Vmn1r217 |
A |
G |
13: 23,114,079 (GRCm38) |
S218P |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,334,397 (GRCm38) |
|
noncoding transcript |
Het |
| Vmn2r71 |
T |
G |
7: 85,615,620 (GRCm38) |
Y53* |
probably null |
Het |
| Wapl |
A |
G |
14: 34,729,215 (GRCm38) |
I729M |
possibly damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,802,761 (GRCm38) |
D175G |
probably benign |
Het |
| Zscan2 |
G |
A |
7: 80,863,344 (GRCm38) |
A26T |
probably benign |
Het |
|
| Other mutations in Pla2g4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Pla2g4d
|
APN |
2 |
120,281,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01405:Pla2g4d
|
APN |
2 |
120,266,823 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01642:Pla2g4d
|
APN |
2 |
120,280,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01657:Pla2g4d
|
APN |
2 |
120,275,287 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
BB001:Pla2g4d
|
UTSW |
2 |
120,289,164 (GRCm38) |
start gained |
probably benign |
|
|
R0962:Pla2g4d
|
UTSW |
2 |
120,280,617 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1564:Pla2g4d
|
UTSW |
2 |
120,268,903 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R1576:Pla2g4d
|
UTSW |
2 |
120,284,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1667:Pla2g4d
|
UTSW |
2 |
120,270,150 (GRCm38) |
splice site |
probably benign |
|
|
R1680:Pla2g4d
|
UTSW |
2 |
120,277,750 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1712:Pla2g4d
|
UTSW |
2 |
120,277,490 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R2253:Pla2g4d
|
UTSW |
2 |
120,271,141 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2919:Pla2g4d
|
UTSW |
2 |
120,281,627 (GRCm38) |
splice site |
probably benign |
|
|
R4420:Pla2g4d
|
UTSW |
2 |
120,284,163 (GRCm38) |
missense |
probably benign |
|
|
R4737:Pla2g4d
|
UTSW |
2 |
120,266,790 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4829:Pla2g4d
|
UTSW |
2 |
120,266,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5032:Pla2g4d
|
UTSW |
2 |
120,281,695 (GRCm38) |
nonsense |
probably null |
|
|
R5530:Pla2g4d
|
UTSW |
2 |
120,269,555 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5677:Pla2g4d
|
UTSW |
2 |
120,278,948 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6087:Pla2g4d
|
UTSW |
2 |
120,270,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6088:Pla2g4d
|
UTSW |
2 |
120,270,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6150:Pla2g4d
|
UTSW |
2 |
120,269,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6930:Pla2g4d
|
UTSW |
2 |
120,270,633 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7240:Pla2g4d
|
UTSW |
2 |
120,270,349 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7284:Pla2g4d
|
UTSW |
2 |
120,284,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7339:Pla2g4d
|
UTSW |
2 |
120,278,978 (GRCm38) |
missense |
probably benign |
|
|
R7552:Pla2g4d
|
UTSW |
2 |
120,284,139 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R7607:Pla2g4d
|
UTSW |
2 |
120,288,976 (GRCm38) |
missense |
probably benign |
|
|
R7692:Pla2g4d
|
UTSW |
2 |
120,279,295 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7860:Pla2g4d
|
UTSW |
2 |
120,266,730 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7924:Pla2g4d
|
UTSW |
2 |
120,289,164 (GRCm38) |
start gained |
probably benign |
|
|
R7972:Pla2g4d
|
UTSW |
2 |
120,278,932 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8373:Pla2g4d
|
UTSW |
2 |
120,277,499 (GRCm38) |
missense |
probably null |
1.00 |
|
R8737:Pla2g4d
|
UTSW |
2 |
120,269,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8752:Pla2g4d
|
UTSW |
2 |
120,268,767 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8987:Pla2g4d
|
UTSW |
2 |
120,269,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9221:Pla2g4d
|
UTSW |
2 |
120,269,972 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R9251:Pla2g4d
|
UTSW |
2 |
120,268,897 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9740:Pla2g4d
|
UTSW |
2 |
120,277,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0026:Pla2g4d
|
UTSW |
2 |
120,277,471 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0028:Pla2g4d
|
UTSW |
2 |
120,281,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACGGAAAGATTGACACTGTG -3'
(R):5'- TGGGAAGGCTCTCTTTAGAACC -3'
Sequencing Primer
(F):5'- GAAAGATTGACACTGTGTGATCGTCC -3'
(R):5'- TAGAACCCTGCTCACTGTGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation