Incidental Mutation 'R7972:Pla2g4d'
| ID |
650643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4d
|
| Ensembl Gene |
ENSMUSG00000070719 |
| Gene Name |
phospholipase A2, group IVD |
| Synonyms |
Pla2delta, 2610311B01Rik |
| MMRRC Submission |
046015-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R7972 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120096347-120119678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 120109413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 212
(T212I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094665]
|
| AlphaFold |
Q50L43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094665
AA Change: T212I
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719
AA Change: T212I
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
32 |
132 |
1.12e-18 |
SMART |
|
PLAc
|
263 |
766 |
3.36e-11 |
SMART |
|
| Meta Mutation Damage Score |
0.1026 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (48/49) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,320,287 (GRCm39) |
V384E |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,364,918 (GRCm39) |
R1533* |
probably null |
Het |
| Alox12 |
T |
A |
11: 70,133,513 (GRCm39) |
M604L |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Brdt |
A |
T |
5: 107,496,415 (GRCm39) |
I176F |
possibly damaging |
Het |
| Cdk5 |
G |
T |
5: 24,624,656 (GRCm39) |
T245K |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,732,395 (GRCm39) |
R1304S |
unknown |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,185,871 (GRCm39) |
E438V |
probably damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,803,949 (GRCm39) |
V92A |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fam184a |
A |
T |
10: 53,514,355 (GRCm39) |
L1022Q |
probably damaging |
Het |
| Foxd4 |
T |
C |
19: 24,877,594 (GRCm39) |
H202R |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,233,861 (GRCm39) |
V16A |
probably benign |
Het |
| Gstcd |
A |
T |
3: 132,777,894 (GRCm39) |
F306I |
probably benign |
Het |
| H2bc13 |
A |
G |
13: 21,899,977 (GRCm39) |
S113P |
possibly damaging |
Het |
| Hivep3 |
T |
C |
4: 119,954,711 (GRCm39) |
V1009A |
possibly damaging |
Het |
| Hoxd12 |
G |
T |
2: 74,506,269 (GRCm39) |
R227L |
probably damaging |
Het |
| Ifi208 |
T |
A |
1: 173,506,556 (GRCm39) |
M113K |
possibly damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,810,802 (GRCm39) |
M427K |
probably damaging |
Het |
| Kcnh4 |
T |
G |
11: 100,643,278 (GRCm39) |
T330P |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lin28a |
G |
A |
4: 133,733,574 (GRCm39) |
P158S |
probably damaging |
Het |
| Muc16 |
C |
A |
9: 18,557,060 (GRCm39) |
E3078* |
probably null |
Het |
| Naaladl1 |
A |
G |
19: 6,156,274 (GRCm39) |
N120S |
probably damaging |
Het |
| Nol10 |
G |
A |
12: 17,402,648 (GRCm39) |
R40H |
probably benign |
Het |
| Ntng1 |
G |
A |
3: 110,042,802 (GRCm39) |
S8L |
probably benign |
Het |
| Or4a71 |
T |
G |
2: 89,357,948 (GRCm39) |
I269L |
probably benign |
Het |
| Or4c107 |
T |
A |
2: 88,789,177 (GRCm39) |
Y122* |
probably null |
Het |
| Pacsin1 |
T |
A |
17: 27,927,613 (GRCm39) |
F319I |
unknown |
Het |
| Ppp4r1 |
T |
A |
17: 66,140,093 (GRCm39) |
C664S |
possibly damaging |
Het |
| Prodh2 |
T |
C |
7: 30,210,580 (GRCm39) |
I377T |
probably damaging |
Het |
| Prss57 |
A |
T |
10: 79,619,230 (GRCm39) |
L243H |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Ros1 |
G |
A |
10: 52,030,926 (GRCm39) |
R581* |
probably null |
Het |
| Rps6kc1 |
C |
T |
1: 190,531,321 (GRCm39) |
G894S |
probably benign |
Het |
| Sirt7 |
A |
G |
11: 120,510,016 (GRCm39) |
S183P |
unknown |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Styxl2 |
T |
A |
1: 165,926,708 (GRCm39) |
E968V |
probably damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,431,250 (GRCm39) |
F374S |
probably damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,837,134 (GRCm39) |
D489E |
probably damaging |
Het |
| Tiprl |
T |
A |
1: 165,064,543 (GRCm39) |
|
probably benign |
Het |
| Tpt1 |
T |
C |
14: 76,085,539 (GRCm39) |
*173Q |
probably null |
Het |
| Trim17 |
A |
G |
11: 58,859,394 (GRCm39) |
I203V |
probably benign |
Het |
| Trim43b |
T |
A |
9: 88,973,361 (GRCm39) |
H124L |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,852,186 (GRCm39) |
I780T |
probably damaging |
Het |
| Tyrobp |
G |
A |
7: 30,114,063 (GRCm39) |
G101R |
|
Het |
| Vmn1r181 |
A |
T |
7: 23,683,871 (GRCm39) |
H112L |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,381,193 (GRCm39) |
N406D |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,013,728 (GRCm39) |
K379E |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,799,323 (GRCm39) |
I230T |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,477,533 (GRCm39) |
T3383A |
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 |
|
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 |
|
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 |
|
|
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'- GATTGACACTGTGTGATCGTC -3'
(R):5'- AGGCTCTCTTTAGAACCCTGC -3'
Sequencing Primer
(F):5'- ACACTGTGTGATCGTCCCCAG -3'
(R):5'- TAGAACCCTGCTCACTGTGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation