Incidental Mutation 'R4420:Pla2g4d'
| ID |
327034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4d
|
| Ensembl Gene |
ENSMUSG00000070719 |
| Gene Name |
phospholipase A2, group IVD |
| Synonyms |
Pla2delta, 2610311B01Rik |
| MMRRC Submission |
041141-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4420 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120096347-120119678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120114644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 29
(V29A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094665]
|
| AlphaFold |
Q50L43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094665
AA Change: V29A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719
AA Change: V29A
| 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: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (53/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef17 |
G |
A |
7: 100,531,515 (GRCm39) |
|
probably benign |
Het |
| Atp1b1 |
T |
C |
1: 164,281,127 (GRCm39) |
T53A |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,731,045 (GRCm39) |
Q104R |
probably damaging |
Het |
| Casz1 |
T |
G |
4: 149,033,375 (GRCm39) |
N1382K |
possibly damaging |
Het |
| Chfr |
T |
A |
5: 110,318,746 (GRCm39) |
C585* |
probably null |
Het |
| Chp2 |
T |
C |
7: 121,821,161 (GRCm39) |
F174S |
probably damaging |
Het |
| Dclre1c |
A |
T |
2: 3,434,782 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
G |
6: 73,168,462 (GRCm39) |
V487A |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,009,575 (GRCm39) |
R771G |
probably benign |
Het |
| Duox1 |
G |
A |
2: 122,157,607 (GRCm39) |
A578T |
probably benign |
Het |
| Elp3 |
G |
A |
14: 65,818,240 (GRCm39) |
A140V |
probably damaging |
Het |
| Fbrsl1 |
T |
C |
5: 110,526,852 (GRCm39) |
H387R |
possibly damaging |
Het |
| Gnat3 |
T |
C |
5: 18,204,799 (GRCm39) |
S151P |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,634,640 (GRCm39) |
L228H |
probably damaging |
Het |
| Gzmn |
A |
T |
14: 56,403,463 (GRCm39) |
H215Q |
probably benign |
Het |
| Heg1 |
A |
T |
16: 33,547,805 (GRCm39) |
E864V |
probably benign |
Het |
| Hoxb9 |
T |
C |
11: 96,162,807 (GRCm39) |
V147A |
probably benign |
Het |
| Hsf5 |
T |
G |
11: 87,548,130 (GRCm39) |
H604Q |
probably benign |
Het |
| Hus1 |
T |
C |
11: 8,950,133 (GRCm39) |
E196G |
probably damaging |
Het |
| Il12rb2 |
G |
T |
6: 67,293,394 (GRCm39) |
|
probably null |
Het |
| Irs1 |
T |
C |
1: 82,266,171 (GRCm39) |
S682G |
possibly damaging |
Het |
| Jcad |
T |
C |
18: 4,676,032 (GRCm39) |
S1265P |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,098,291 (GRCm39) |
S361G |
possibly damaging |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Nceh1 |
A |
G |
3: 27,295,798 (GRCm39) |
D353G |
probably damaging |
Het |
| Nqo1 |
C |
T |
8: 108,118,749 (GRCm39) |
|
probably null |
Het |
| Or5t7 |
A |
G |
2: 86,507,263 (GRCm39) |
V138A |
possibly damaging |
Het |
| Pcdh7 |
T |
C |
5: 58,286,512 (GRCm39) |
I1196T |
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,927,736 (GRCm39) |
Y794* |
probably null |
Het |
| Prdx5 |
C |
A |
19: 6,885,332 (GRCm39) |
|
probably null |
Het |
| Psme4 |
C |
T |
11: 30,762,028 (GRCm39) |
T456I |
possibly damaging |
Het |
| Ptprd |
A |
T |
4: 75,957,614 (GRCm39) |
S923R |
possibly damaging |
Het |
| Samd12 |
G |
A |
15: 53,723,655 (GRCm39) |
R13W |
probably damaging |
Het |
| Slc35f4 |
A |
T |
14: 49,551,034 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,997,031 (GRCm39) |
Y530H |
probably damaging |
Het |
| Spata2l |
T |
C |
8: 123,960,768 (GRCm39) |
T174A |
possibly damaging |
Het |
| Sugct |
C |
T |
13: 17,627,130 (GRCm39) |
C241Y |
probably damaging |
Het |
| Tarbp1 |
G |
T |
8: 127,173,819 (GRCm39) |
A965D |
possibly damaging |
Het |
| Tas1r3 |
A |
G |
4: 155,946,789 (GRCm39) |
V272A |
probably damaging |
Het |
| Tas2r117 |
T |
A |
6: 132,780,312 (GRCm39) |
L150* |
probably null |
Het |
| Trip10 |
C |
T |
17: 57,562,448 (GRCm39) |
P322L |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,058,850 (GRCm39) |
H1487Q |
probably damaging |
Het |
| Wdr95 |
G |
A |
5: 149,456,131 (GRCm39) |
V8M |
probably damaging |
Het |
| Zc3h15 |
C |
A |
2: 83,488,356 (GRCm39) |
A98E |
probably damaging |
Het |
| Zfp763 |
T |
G |
17: 33,237,455 (GRCm39) |
K563N |
probably benign |
Het |
| Zmym2 |
G |
A |
14: 57,194,335 (GRCm39) |
D1198N |
probably damaging |
Het |
| Zp1 |
C |
T |
19: 10,892,124 (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 |
|
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 |
|
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'- GTCCAGGTTCCTTTGACAACC -3'
(R):5'- AATCACTACCCCAGTTGACCTG -3'
Sequencing Primer
(F):5'- AGGTTCCTTTGACAACCCCAGTATC -3'
(R):5'- ATCCCATGGCTGCCAAAGG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation