Incidental Mutation 'R5814:Pla2g4c'
| ID |
447680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4c
|
| Ensembl Gene |
ENSMUSG00000033847 |
| Gene Name |
phospholipase A2, group IVC (cytosolic, calcium-independent) |
| Synonyms |
CPLA2-gamma |
| MMRRC Submission |
043396-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R5814 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
13058580-13094597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13074543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 250
(W250R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043612]
[ENSMUST00000108528]
[ENSMUST00000167232]
|
| AlphaFold |
Q64GA5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043612
AA Change: W240R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043672
Gene: ENSMUSG00000033847
AA Change: W240R
| Domain | Start | End | E-Value | Type |
|---|
|
PLAc
|
1 |
534 |
1.97e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108528
AA Change: W250R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104168
Gene: ENSMUSG00000033847
AA Change: W250R
| Domain | Start | End | E-Value | Type |
|---|
|
PLAc
|
1 |
544 |
1.23e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157290
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167232
AA Change: W250R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127060
Gene: ENSMUSG00000033847
AA Change: W250R
| Domain | Start | End | E-Value | Type |
|---|
|
PLAc
|
1 |
544 |
1.23e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.8558 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
91% (52/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,811 (GRCm39) |
D135G |
probably benign |
Het |
| Arrdc3 |
G |
T |
13: 81,038,698 (GRCm39) |
R220L |
possibly damaging |
Het |
| Bace1 |
A |
G |
9: 45,771,562 (GRCm39) |
D458G |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,034,880 (GRCm39) |
Y1360C |
probably benign |
Het |
| Ccnb1-ps |
T |
C |
7: 41,756,522 (GRCm39) |
|
noncoding transcript |
Het |
| Cd209b |
T |
C |
8: 3,973,348 (GRCm39) |
E112G |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,117,478 (GRCm39) |
L1176Q |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
| Clvs2 |
G |
T |
10: 33,404,503 (GRCm39) |
Q238K |
probably benign |
Het |
| Creb3l3 |
C |
T |
10: 80,921,496 (GRCm39) |
V350M |
probably benign |
Het |
| Crot |
A |
C |
5: 9,023,996 (GRCm39) |
D373E |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,289,694 (GRCm39) |
I187N |
probably damaging |
Het |
| Degs1l |
G |
A |
1: 180,882,663 (GRCm39) |
V142I |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,369,102 (GRCm39) |
A4291D |
possibly damaging |
Het |
| Dnmt3b |
A |
T |
2: 153,514,417 (GRCm39) |
E403D |
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,075,757 (GRCm39) |
I43K |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,626,940 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
C |
A |
5: 110,843,444 (GRCm39) |
|
probably null |
Het |
| Erp27 |
A |
T |
6: 136,888,564 (GRCm39) |
V138E |
possibly damaging |
Het |
| Gbp4 |
G |
A |
5: 105,267,785 (GRCm39) |
A487V |
probably benign |
Het |
| Gm10142 |
C |
A |
10: 77,551,957 (GRCm39) |
T106N |
probably damaging |
Het |
| Gxylt2 |
C |
A |
6: 100,710,196 (GRCm39) |
H112Q |
probably damaging |
Het |
| Hexim2 |
G |
A |
11: 103,029,209 (GRCm39) |
R87Q |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,807,305 (GRCm39) |
N399S |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,199,516 (GRCm39) |
I302F |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,216,622 (GRCm39) |
|
probably null |
Het |
| Krtap19-9a |
T |
C |
16: 88,721,002 (GRCm39) |
|
noncoding transcript |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Mmp10 |
G |
A |
9: 7,503,621 (GRCm39) |
A164T |
possibly damaging |
Het |
| Myrip |
G |
A |
9: 120,253,734 (GRCm39) |
G269D |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Paxbp1 |
G |
T |
16: 90,827,384 (GRCm39) |
R420S |
probably damaging |
Het |
| Pcbp2 |
T |
A |
15: 102,391,597 (GRCm39) |
S38R |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,306,922 (GRCm39) |
V1082A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,269,629 (GRCm39) |
E3305G |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 16,993,725 (GRCm39) |
|
probably null |
Het |
| Rpsa |
A |
G |
9: 119,957,551 (GRCm39) |
|
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,275,680 (GRCm39) |
I262V |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,396,826 (GRCm39) |
L1663* |
probably null |
Het |
| Sh3d19 |
G |
A |
3: 86,033,911 (GRCm39) |
V755I |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,973,654 (GRCm39) |
V14E |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,428,818 (GRCm39) |
Q411L |
probably damaging |
Het |
| Sycp1 |
A |
C |
3: 102,803,213 (GRCm39) |
S532R |
probably benign |
Het |
| Taf6l |
C |
A |
19: 8,752,210 (GRCm39) |
A493S |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,570,603 (GRCm39) |
D574G |
probably benign |
Het |
| Ttll10 |
T |
A |
4: 156,132,084 (GRCm39) |
K117N |
possibly damaging |
Het |
| Uqcc5 |
A |
G |
14: 30,846,477 (GRCm39) |
|
probably null |
Het |
| Utp4 |
T |
A |
8: 107,638,907 (GRCm39) |
I405K |
probably damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,474,475 (GRCm39) |
Y851F |
probably benign |
Het |
| Vps33a |
T |
C |
5: 123,703,119 (GRCm39) |
D168G |
probably damaging |
Het |
|
| Other mutations in Pla2g4c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Pla2g4c
|
APN |
7 |
13,077,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00972:Pla2g4c
|
APN |
7 |
13,074,583 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01759:Pla2g4c
|
APN |
7 |
13,082,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02567:Pla2g4c
|
APN |
7 |
13,079,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02629:Pla2g4c
|
APN |
7 |
13,069,302 (GRCm39) |
nonsense |
probably null |
|
|
IGL02719:Pla2g4c
|
APN |
7 |
13,064,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Pla2g4c
|
APN |
7 |
13,082,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Pla2g4c
|
UTSW |
7 |
13,077,316 (GRCm39) |
missense |
probably benign |
|
|
R0184:Pla2g4c
|
UTSW |
7 |
13,090,145 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1052:Pla2g4c
|
UTSW |
7 |
13,077,334 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1747:Pla2g4c
|
UTSW |
7 |
13,071,655 (GRCm39) |
splice site |
probably benign |
|
|
R4381:Pla2g4c
|
UTSW |
7 |
13,079,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4486:Pla2g4c
|
UTSW |
7 |
13,071,676 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4674:Pla2g4c
|
UTSW |
7 |
13,077,439 (GRCm39) |
missense |
probably null |
0.24 |
|
R4811:Pla2g4c
|
UTSW |
7 |
13,071,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Pla2g4c
|
UTSW |
7 |
13,063,889 (GRCm39) |
splice site |
probably null |
|
|
R5791:Pla2g4c
|
UTSW |
7 |
13,073,617 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6381:Pla2g4c
|
UTSW |
7 |
13,077,933 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6395:Pla2g4c
|
UTSW |
7 |
13,077,933 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6974:Pla2g4c
|
UTSW |
7 |
13,078,459 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7257:Pla2g4c
|
UTSW |
7 |
13,059,669 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7823:Pla2g4c
|
UTSW |
7 |
13,063,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8385:Pla2g4c
|
UTSW |
7 |
13,063,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8737:Pla2g4c
|
UTSW |
7 |
13,069,154 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8933:Pla2g4c
|
UTSW |
7 |
13,073,627 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9086:Pla2g4c
|
UTSW |
7 |
13,071,692 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9121:Pla2g4c
|
UTSW |
7 |
13,091,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9226:Pla2g4c
|
UTSW |
7 |
13,059,671 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9456:Pla2g4c
|
UTSW |
7 |
13,077,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Pla2g4c
|
UTSW |
7 |
13,063,678 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1177:Pla2g4c
|
UTSW |
7 |
13,082,252 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTACCCTTGTGTTGAGAC -3'
(R):5'- CATCAGTGCTCACAGGATAGTG -3'
Sequencing Primer
(F):5'- GTGTTGAGACTAGAACTGCTAACCC -3'
(R):5'- CCTGGAATTCCCTATGCAGATTAGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation