Incidental Mutation 'IGL01133:Pla2g12b'
ID |
52147 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pla2g12b
|
Ensembl Gene |
ENSMUSG00000009646 |
Gene Name |
phospholipase A2, group XIIB |
Synonyms |
Pla2g13, 2010002E04Rik, hlb218 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.766)
|
Stock # |
IGL01133
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
59239482-59257798 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 59252239 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 37
(A37S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009790]
[ENSMUST00000162643]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009790
AA Change: A124S
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000009790 Gene: ENSMUSG00000009646 AA Change: A124S
Domain | Start | End | E-Value | Type |
Pfam:PLA2G12
|
12 |
195 |
1.5e-89 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162643
AA Change: A37S
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000123842 Gene: ENSMUSG00000009646 AA Change: A37S
Domain | Start | End | E-Value | Type |
Pfam:PLA2G12
|
1 |
77 |
1.7e-36 |
PFAM |
low complexity region
|
90 |
101 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phospholipase A2 (PLA2) group of enzymes, which function in glycolipid hydrolysis with the release of free fatty acids and lysophospholipids. This family member has altered phospholipid-binding properties and is catalytically inactive. The protein is secreted, and together with microsomal triglyceride transfer protein, it functions to regulate HNF4alpha-induced hepatitis C virus infectivity. The expression of this gene is down-regulated in various tumors, suggesting that it may function as a negative regulator of tumor progression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015] PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit a reduction in serum total and HDL cholesterol levels, decreased serum triglyceride levels, and hepatic steatosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Adam4 |
T |
C |
12: 81,468,220 (GRCm39) |
T134A |
possibly damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Cartpt |
T |
G |
13: 100,036,548 (GRCm39) |
I67L |
probably benign |
Het |
Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
Ccer1 |
T |
C |
10: 97,530,401 (GRCm39) |
F355L |
probably benign |
Het |
Cert1 |
A |
G |
13: 96,751,310 (GRCm39) |
E320G |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cfap299 |
T |
C |
5: 98,646,240 (GRCm39) |
|
probably null |
Het |
Cfap36 |
A |
C |
11: 29,184,414 (GRCm39) |
V114G |
probably damaging |
Het |
Cyp2b9 |
G |
A |
7: 25,909,660 (GRCm39) |
G476D |
probably damaging |
Het |
Eif3l |
T |
C |
15: 78,961,120 (GRCm39) |
Y58H |
possibly damaging |
Het |
Gapvd1 |
T |
C |
2: 34,615,410 (GRCm39) |
Y411C |
probably damaging |
Het |
Gm27029 |
G |
T |
11: 101,302,786 (GRCm39) |
F236L |
possibly damaging |
Het |
Golga1 |
T |
C |
2: 38,913,484 (GRCm39) |
T501A |
probably benign |
Het |
Heg1 |
C |
T |
16: 33,547,657 (GRCm39) |
H815Y |
probably benign |
Het |
Krt1 |
A |
T |
15: 101,756,628 (GRCm39) |
D298E |
probably damaging |
Het |
Mecr |
T |
A |
4: 131,570,907 (GRCm39) |
S32T |
probably benign |
Het |
Med1 |
A |
T |
11: 98,048,812 (GRCm39) |
Y661* |
probably null |
Het |
Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
Plekha7 |
G |
T |
7: 115,744,476 (GRCm39) |
|
probably null |
Het |
Ralgapa1 |
T |
C |
12: 55,689,133 (GRCm39) |
I1989V |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,689,144 (GRCm39) |
H1938R |
probably damaging |
Het |
Sanbr |
A |
T |
11: 23,545,434 (GRCm39) |
D486E |
probably damaging |
Het |
Sec31b |
A |
G |
19: 44,515,480 (GRCm39) |
F309S |
probably damaging |
Het |
Serpina3a |
T |
C |
12: 104,087,758 (GRCm39) |
I227T |
probably benign |
Het |
Slc1a3 |
A |
G |
15: 8,675,171 (GRCm39) |
I278T |
probably damaging |
Het |
Slc1a3 |
T |
C |
15: 8,680,477 (GRCm39) |
Y127C |
probably damaging |
Het |
Spen |
T |
C |
4: 141,217,212 (GRCm39) |
K449R |
unknown |
Het |
Thoc2l |
A |
G |
5: 104,665,528 (GRCm39) |
T17A |
probably benign |
Het |
Tmem130 |
A |
G |
5: 144,689,255 (GRCm39) |
S129P |
probably damaging |
Het |
Trim68 |
A |
T |
7: 102,328,348 (GRCm39) |
|
probably null |
Het |
Vdac3-ps1 |
T |
C |
13: 18,206,034 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r75 |
A |
G |
7: 85,797,240 (GRCm39) |
|
probably benign |
Het |
Zbtb9 |
G |
T |
17: 27,193,985 (GRCm39) |
|
probably benign |
Het |
Zfp568 |
T |
A |
7: 29,687,233 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Pla2g12b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02526:Pla2g12b
|
APN |
10 |
59,252,275 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02551:Pla2g12b
|
APN |
10 |
59,239,692 (GRCm39) |
missense |
probably damaging |
1.00 |
florissant
|
UTSW |
10 |
59,257,263 (GRCm39) |
unclassified |
probably benign |
|
R0800:Pla2g12b
|
UTSW |
10 |
59,239,642 (GRCm39) |
missense |
probably benign |
0.00 |
R0918:Pla2g12b
|
UTSW |
10 |
59,257,306 (GRCm39) |
missense |
probably damaging |
0.98 |
R1412:Pla2g12b
|
UTSW |
10 |
59,239,804 (GRCm39) |
critical splice donor site |
probably null |
|
R1602:Pla2g12b
|
UTSW |
10 |
59,257,375 (GRCm39) |
splice site |
probably null |
|
R3765:Pla2g12b
|
UTSW |
10 |
59,257,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R4822:Pla2g12b
|
UTSW |
10 |
59,252,336 (GRCm39) |
critical splice donor site |
probably null |
|
R5963:Pla2g12b
|
UTSW |
10 |
59,239,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R6140:Pla2g12b
|
UTSW |
10 |
59,257,263 (GRCm39) |
unclassified |
probably benign |
|
R7889:Pla2g12b
|
UTSW |
10 |
59,257,062 (GRCm39) |
splice site |
probably null |
|
R7897:Pla2g12b
|
UTSW |
10 |
59,246,816 (GRCm39) |
nonsense |
probably null |
|
R8075:Pla2g12b
|
UTSW |
10 |
59,257,274 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2013-06-21 |