Incidental Mutation 'R0038:Pnpla5'
| ID |
15471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla5
|
| Ensembl Gene |
ENSMUSG00000018868 |
| Gene Name |
patatin-like phospholipase domain containing 5 |
| Synonyms |
GS2L, 4833426H19Rik |
| MMRRC Submission |
038332-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R0038 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83996557-84007376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84006714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 90
(Y90H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019012]
[ENSMUST00000230566]
|
| AlphaFold |
Q32LZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019012
AA Change: Y90H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019012
Gene: ENSMUSG00000018868
AA Change: Y90H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
12 |
180 |
2.6e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230566
AA Change: Y90H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231019
|
| Meta Mutation Damage Score |
0.4501 |
| Coding Region Coverage |
- 1x: 83.6%
- 3x: 76.1%
- 10x: 58.6%
- 20x: 40.4%
|
| Validation Efficiency |
91% (67/74) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg1 |
T |
C |
1: 82,863,823 (GRCm39) |
|
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,740,896 (GRCm39) |
T253A |
probably benign |
Het |
| Ankrd28 |
A |
T |
14: 31,429,992 (GRCm39) |
M892K |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,022,734 (GRCm39) |
|
probably benign |
Het |
| Cldn8 |
A |
G |
16: 88,359,922 (GRCm39) |
M1T |
probably null |
Het |
| Clec11a |
A |
G |
7: 43,955,906 (GRCm39) |
|
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,127 (GRCm39) |
L305P |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,026,197 (GRCm39) |
E60G |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,748,385 (GRCm39) |
H39L |
probably damaging |
Het |
| Gramd1b |
G |
A |
9: 40,228,822 (GRCm39) |
T252M |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,166,963 (GRCm39) |
S125T |
probably benign |
Het |
| Htr2a |
T |
G |
14: 74,943,687 (GRCm39) |
S422R |
probably benign |
Het |
| Kirrel3 |
T |
A |
9: 34,823,066 (GRCm39) |
|
probably null |
Het |
| Krtap9-5 |
G |
A |
11: 99,839,428 (GRCm39) |
C43Y |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,062,997 (GRCm39) |
S685P |
possibly damaging |
Het |
| Oog4 |
T |
C |
4: 143,165,514 (GRCm39) |
D211G |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,479,272 (GRCm39) |
E723V |
possibly damaging |
Het |
| Pgm3 |
A |
T |
9: 86,446,726 (GRCm39) |
|
probably benign |
Het |
| Polr1b |
C |
T |
2: 128,957,588 (GRCm39) |
R548* |
probably null |
Het |
| Rnf168 |
T |
C |
16: 32,117,813 (GRCm39) |
V458A |
probably benign |
Het |
| Rnf32 |
T |
C |
5: 29,410,652 (GRCm39) |
|
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,583,943 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,216 (GRCm39) |
F139L |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,299,298 (GRCm39) |
|
probably null |
Het |
| Stard5 |
T |
C |
7: 83,285,951 (GRCm39) |
|
probably benign |
Het |
| Suclg1 |
A |
G |
6: 73,237,486 (GRCm39) |
E77G |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,358,809 (GRCm39) |
G2112C |
probably benign |
Het |
| Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
probably benign |
Het |
|
| Other mutations in Pnpla5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4151001:Pnpla5
|
UTSW |
15 |
84,002,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Pnpla5
|
UTSW |
15 |
84,006,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0135:Pnpla5
|
UTSW |
15 |
83,998,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0321:Pnpla5
|
UTSW |
15 |
84,004,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0322:Pnpla5
|
UTSW |
15 |
84,004,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0384:Pnpla5
|
UTSW |
15 |
84,004,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Pnpla5
|
UTSW |
15 |
84,004,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0386:Pnpla5
|
UTSW |
15 |
84,004,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0801:Pnpla5
|
UTSW |
15 |
83,998,121 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6410:Pnpla5
|
UTSW |
15 |
84,004,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6425:Pnpla5
|
UTSW |
15 |
84,006,836 (GRCm39) |
splice site |
probably null |
|
|
R6523:Pnpla5
|
UTSW |
15 |
83,999,912 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8790:Pnpla5
|
UTSW |
15 |
84,002,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9030:Pnpla5
|
UTSW |
15 |
83,998,087 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Z1088:Pnpla5
|
UTSW |
15 |
84,007,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-21 |
Incidental Mutation