Incidental Mutation 'R6410:Pnpla5'
| ID |
514585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla5
|
| Ensembl Gene |
ENSMUSG00000018868 |
| Gene Name |
patatin-like phospholipase domain containing 5 |
| Synonyms |
GS2L, 4833426H19Rik |
| MMRRC Submission |
044383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6410 (G1)
|
| Quality Score |
149.008 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
83996557-84007376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84004880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 157
(I157T)
|
| 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: I157T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019012
Gene: ENSMUSG00000018868
AA Change: I157T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
12 |
180 |
2.6e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230566
AA Change: I157T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
C |
T |
4: 132,790,210 (GRCm39) |
R484W |
probably damaging |
Het |
| Arhgap24 |
T |
A |
5: 103,040,017 (GRCm39) |
I411N |
probably benign |
Het |
| Armt1 |
A |
G |
10: 4,403,826 (GRCm39) |
S304G |
probably benign |
Het |
| Atg9b |
T |
A |
5: 24,591,108 (GRCm39) |
N774I |
possibly damaging |
Het |
| C1s1 |
C |
T |
6: 124,508,117 (GRCm39) |
C624Y |
probably damaging |
Het |
| Camsap2 |
C |
A |
1: 136,273,182 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,564,798 (GRCm39) |
S248P |
probably benign |
Het |
| Cd28 |
A |
T |
1: 60,804,442 (GRCm39) |
H140L |
probably benign |
Het |
| Csmd3 |
G |
A |
15: 48,536,803 (GRCm39) |
T133I |
probably damaging |
Het |
| D430041D05Rik |
A |
T |
2: 103,998,548 (GRCm39) |
|
probably null |
Het |
| Defb47 |
T |
C |
14: 63,238,442 (GRCm39) |
V56A |
probably benign |
Het |
| Fxyd5 |
T |
C |
7: 30,734,831 (GRCm39) |
E132G |
probably damaging |
Het |
| H2-M2 |
A |
G |
17: 37,794,104 (GRCm39) |
V40A |
probably damaging |
Het |
| H2-Q7 |
T |
C |
17: 35,659,152 (GRCm39) |
L201P |
probably benign |
Het |
| Klra9 |
T |
G |
6: 130,155,957 (GRCm39) |
D266A |
probably damaging |
Het |
| Meioc |
A |
G |
11: 102,565,860 (GRCm39) |
N492S |
probably benign |
Het |
| Nmt2 |
A |
G |
2: 3,317,215 (GRCm39) |
E341G |
probably damaging |
Het |
| Nutm1 |
A |
C |
2: 112,079,074 (GRCm39) |
V947G |
possibly damaging |
Het |
| Oga |
T |
C |
19: 45,764,484 (GRCm39) |
|
probably null |
Het |
| Or7e177 |
T |
A |
9: 20,211,748 (GRCm39) |
I84N |
probably damaging |
Het |
| Pm20d1 |
G |
A |
1: 131,726,334 (GRCm39) |
G57D |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sv2b |
A |
T |
7: 74,789,857 (GRCm39) |
I392N |
probably benign |
Het |
| Wfdc8 |
T |
A |
2: 164,439,663 (GRCm39) |
I240F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAGCTCTCTAGGAAGGGGAG -3'
(R):5'- CTCTTTGGGAAAACACACAGAGG -3'
Sequencing Primer
(F):5'- TCTCTAGGAAGGGGAGGCTTGAC -3'
(R):5'- AACACACAGAGGTTTTTGGTGGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation