Incidental Mutation 'IGL00818:Pdcd2l'
| ID |
12949 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdcd2l
|
| Ensembl Gene |
ENSMUSG00000002635 |
| Gene Name |
programmed cell death 2-like |
| Synonyms |
6030457N17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.871)
|
| Stock # |
IGL00818
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
33883924-33896086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33884158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 348
(M348K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002710]
|
| AlphaFold |
Q8C5N5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002710
AA Change: M348K
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000002710
Gene: ENSMUSG00000002635
AA Change: M348K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDCD2_C
|
192 |
356 |
3e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121425
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148381
|
| SMART Domains |
Protein: ENSMUSP00000115874
Gene: ENSMUSG00000002635
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDCD2_C
|
181 |
270 |
4.4e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206088
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,259,475 (GRCm39) |
T700A |
probably benign |
Het |
| Brinp1 |
T |
A |
4: 68,681,084 (GRCm39) |
D482V |
probably damaging |
Het |
| Cmtr2 |
A |
T |
8: 110,949,732 (GRCm39) |
T681S |
probably benign |
Het |
| Dcc |
T |
A |
18: 72,088,083 (GRCm39) |
M52L |
probably benign |
Het |
| Echdc1 |
A |
G |
10: 29,193,616 (GRCm39) |
I38V |
probably benign |
Het |
| Gars1 |
G |
T |
6: 55,027,338 (GRCm39) |
G144V |
probably damaging |
Het |
| Gp2 |
T |
C |
7: 119,049,350 (GRCm39) |
T396A |
possibly damaging |
Het |
| Gpatch1 |
T |
C |
7: 34,976,238 (GRCm39) |
|
probably null |
Het |
| Mfap4 |
A |
T |
11: 61,378,607 (GRCm39) |
Q209L |
possibly damaging |
Het |
| Prkdc |
A |
T |
16: 15,577,618 (GRCm39) |
T2391S |
possibly damaging |
Het |
| Rxrg |
C |
T |
1: 167,454,857 (GRCm39) |
|
probably benign |
Het |
| Serpinb2 |
A |
G |
1: 107,452,466 (GRCm39) |
D348G |
probably benign |
Het |
| Tbc1d30 |
G |
A |
10: 121,102,729 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
T |
A |
10: 100,307,342 (GRCm39) |
T221S |
probably benign |
Het |
| Tro |
C |
T |
X: 149,431,357 (GRCm39) |
G1203D |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,552,092 (GRCm39) |
T31182S |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 127,960,604 (GRCm39) |
Y220C |
probably damaging |
Het |
|
| Other mutations in Pdcd2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Pdcd2l
|
APN |
7 |
33,884,246 (GRCm39) |
splice site |
probably null |
|
|
IGL01417:Pdcd2l
|
APN |
7 |
33,892,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Pdcd2l
|
UTSW |
7 |
33,892,232 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0976:Pdcd2l
|
UTSW |
7 |
33,895,771 (GRCm39) |
missense |
probably benign |
|
|
R1815:Pdcd2l
|
UTSW |
7 |
33,885,826 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5215:Pdcd2l
|
UTSW |
7 |
33,892,314 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7743:Pdcd2l
|
UTSW |
7 |
33,892,256 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8842:Pdcd2l
|
UTSW |
7 |
33,884,192 (GRCm39) |
nonsense |
probably null |
|
|
R9021:Pdcd2l
|
UTSW |
7 |
33,885,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9570:Pdcd2l
|
UTSW |
7 |
33,892,401 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9635:Pdcd2l
|
UTSW |
7 |
33,892,356 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2012-12-06 |
Incidental Mutation