Incidental Mutation 'IGL00226:Pdcd1'
ID |
2530 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pdcd1
|
Ensembl Gene |
ENSMUSG00000026285 |
Gene Name |
programmed cell death 1 |
Synonyms |
Pdc1, PD-1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.339)
|
Stock # |
IGL00226
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
93966027-93980278 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 93967860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027507]
|
AlphaFold |
Q02242 |
PDB Structure |
CRYSTAL STRUCTURE OF THE EXTRACELLULAR DOMAIN OF MURINE PD-1 [X-RAY DIFFRACTION]
Crystal Structure of the PD-1/PD-L1 Complex [X-RAY DIFFRACTION]
Crystal structure of the mouse PD-1 and PD-L2 complex [X-RAY DIFFRACTION]
Crystal structure of the mouse PD-1 Mutant and PD-L2 complex [X-RAY DIFFRACTION]
Crystal structure of the complex between mouse PD-1 mutant and PD-L2 IgV domain [X-RAY DIFFRACTION]
Crystal structure of the complex between the extracellular domains of mouse PD-1 mutant and PD-L2 [X-RAY DIFFRACTION]
Crystal structure of the complex between the extracellular domains of mouse PD-1 mutant and human PD-L1 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000027507
|
SMART Domains |
Protein: ENSMUSP00000027507 Gene: ENSMUSG00000026285
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
IG
|
39 |
145 |
3.33e-9 |
SMART |
transmembrane domain
|
170 |
192 |
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.] This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in leukopoiesis and the immune system which vary considerably depending on the genetic background. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810062G17Rik |
C |
A |
3: 36,533,690 (GRCm39) |
|
probably benign |
Het |
Ankib1 |
G |
A |
5: 3,777,573 (GRCm39) |
S439L |
probably benign |
Het |
Cdcp3 |
T |
A |
7: 130,839,823 (GRCm39) |
|
probably null |
Het |
Cpd |
G |
T |
11: 76,688,615 (GRCm39) |
H886N |
probably benign |
Het |
Dhrs7 |
A |
G |
12: 72,706,124 (GRCm39) |
C94R |
probably damaging |
Het |
Dmxl2 |
T |
A |
9: 54,323,277 (GRCm39) |
H1369L |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,272,488 (GRCm39) |
N1068S |
probably benign |
Het |
Dop1a |
T |
A |
9: 86,433,732 (GRCm39) |
D2329E |
possibly damaging |
Het |
Eif1ad |
A |
G |
19: 5,418,212 (GRCm39) |
|
probably benign |
Het |
Fam149a |
T |
C |
8: 45,792,380 (GRCm39) |
R693G |
probably damaging |
Het |
Fbxw18 |
T |
A |
9: 109,522,411 (GRCm39) |
T153S |
probably benign |
Het |
Glg1 |
A |
T |
8: 111,886,481 (GRCm39) |
C1104S |
probably damaging |
Het |
Jak3 |
T |
C |
8: 72,134,341 (GRCm39) |
|
probably benign |
Het |
Kctd6 |
C |
T |
14: 8,222,856 (GRCm38) |
R233C |
possibly damaging |
Het |
Kpna3 |
A |
G |
14: 61,611,737 (GRCm39) |
V300A |
possibly damaging |
Het |
Msh5 |
A |
T |
17: 35,248,857 (GRCm39) |
Y725* |
probably null |
Het |
Myh2 |
T |
C |
11: 67,076,059 (GRCm39) |
S749P |
possibly damaging |
Het |
Or2ag15 |
T |
A |
7: 106,340,908 (GRCm39) |
T78S |
probably benign |
Het |
Or4c110 |
A |
G |
2: 88,831,683 (GRCm39) |
|
probably benign |
Het |
Or5ac17 |
A |
T |
16: 59,036,859 (GRCm39) |
M39K |
probably damaging |
Het |
Or8g19 |
T |
A |
9: 39,056,053 (GRCm39) |
I219N |
possibly damaging |
Het |
Pde5a |
T |
A |
3: 122,588,006 (GRCm39) |
F391I |
probably damaging |
Het |
Ptpn12 |
A |
C |
5: 21,203,666 (GRCm39) |
S371A |
probably damaging |
Het |
Sec16b |
A |
G |
1: 157,365,900 (GRCm39) |
Y254C |
probably damaging |
Het |
Slc2a10 |
G |
A |
2: 165,356,700 (GRCm39) |
C120Y |
probably damaging |
Het |
Spink5 |
G |
A |
18: 44,120,938 (GRCm39) |
|
probably benign |
Het |
Svil |
A |
G |
18: 5,099,045 (GRCm39) |
Q1250R |
probably benign |
Het |
Tph1 |
G |
T |
7: 46,306,294 (GRCm39) |
N222K |
probably benign |
Het |
Vmn2r83 |
A |
T |
10: 79,314,805 (GRCm39) |
D351V |
probably damaging |
Het |
Zfp54 |
A |
G |
17: 21,653,821 (GRCm39) |
D105G |
possibly damaging |
Het |
Zfp623 |
T |
C |
15: 75,820,052 (GRCm39) |
I336T |
probably damaging |
Het |
|
Other mutations in Pdcd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01522:Pdcd1
|
APN |
1 |
93,968,571 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02337:Pdcd1
|
APN |
1 |
93,968,582 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02750:Pdcd1
|
APN |
1 |
93,967,269 (GRCm39) |
splice site |
probably benign |
|
R6720_pdcd1_520
|
UTSW |
1 |
93,969,114 (GRCm39) |
missense |
probably benign |
0.00 |
R0092:Pdcd1
|
UTSW |
1 |
93,980,149 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0554:Pdcd1
|
UTSW |
1 |
93,967,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R0931:Pdcd1
|
UTSW |
1 |
93,967,238 (GRCm39) |
missense |
probably benign |
0.05 |
R3932:Pdcd1
|
UTSW |
1 |
93,968,989 (GRCm39) |
missense |
probably benign |
0.01 |
R5222:Pdcd1
|
UTSW |
1 |
93,980,175 (GRCm39) |
missense |
probably damaging |
0.99 |
R5914:Pdcd1
|
UTSW |
1 |
93,968,550 (GRCm39) |
missense |
probably benign |
0.15 |
R6186:Pdcd1
|
UTSW |
1 |
93,967,846 (GRCm39) |
nonsense |
probably null |
|
R6720:Pdcd1
|
UTSW |
1 |
93,969,114 (GRCm39) |
missense |
probably benign |
0.00 |
R6844:Pdcd1
|
UTSW |
1 |
93,967,106 (GRCm39) |
missense |
probably benign |
0.36 |
R7966:Pdcd1
|
UTSW |
1 |
93,969,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R8233:Pdcd1
|
UTSW |
1 |
93,967,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R8387:Pdcd1
|
UTSW |
1 |
93,969,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R8677:Pdcd1
|
UTSW |
1 |
93,968,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R8724:Pdcd1
|
UTSW |
1 |
93,968,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R8823:Pdcd1
|
UTSW |
1 |
93,969,220 (GRCm39) |
missense |
probably benign |
0.00 |
R8875:Pdcd1
|
UTSW |
1 |
93,967,092 (GRCm39) |
missense |
probably benign |
0.06 |
R8876:Pdcd1
|
UTSW |
1 |
93,980,155 (GRCm39) |
missense |
probably benign |
|
R9041:Pdcd1
|
UTSW |
1 |
93,969,091 (GRCm39) |
missense |
probably benign |
0.33 |
R9081:Pdcd1
|
UTSW |
1 |
93,968,880 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2011-12-09 |