Incidental Mutation 'R1356:Cd274'
| ID |
156341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd274
|
| Ensembl Gene |
ENSMUSG00000016496 |
| Gene Name |
CD274 antigen |
| Synonyms |
Pdcd1lg1, PD-L1, B7-H1 |
| MMRRC Submission |
039421-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1356 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
29344855-29365495 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29350970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 22
(T22K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016640]
|
| AlphaFold |
Q9EP73 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016640
AA Change: T22K
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000016640
Gene: ENSMUSG00000016496
AA Change: T22K
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
24 |
131 |
1.5e-7 |
SMART |
|
IG_like
|
138 |
226 |
4.78e1 |
SMART |
|
| Meta Mutation Damage Score |
0.5169 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is an immune inhibitory receptor ligand that is expressed by hematopoietic and non-hematopoietic cells, such as T cells and B cells and various types of tumor cells. The encoded protein is a type I transmembrane protein that has immunoglobulin V-like and C-like domains. Interaction of this ligand with its receptor inhibits T-cell activation and cytokine production. During infection or inflammation of normal tissue, this interaction is important for preventing autoimmunity by maintaining homeostasis of the immune response. In tumor microenvironments, this interaction provides an immune escape for tumor cells through cytotoxic T-cell inactivation. Mice deficient for this gene display a variety of phenotypes including decreased allogeneic fetal survival rates and severe experimental autoimmune encephalomyelitis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered susceptibility to experimental autoimmune encephalomyelitis, induced arthritis, nerve injury, autoimmune diabetes, bacterial infection, viral infection, and parasitic infection due to abnormal T cellmorphology and physiology. [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 |
|---|
| Abca12 |
A |
G |
1: 71,342,112 (GRCm39) |
|
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,158,611 (GRCm39) |
|
probably benign |
Het |
| Cfap45 |
G |
A |
1: 172,355,430 (GRCm39) |
R26Q |
possibly damaging |
Het |
| Dvl3 |
AGCGGCGGCGGCGG |
AGCGGCGGCGG |
16: 20,343,055 (GRCm39) |
|
probably benign |
Het |
| E2f8 |
A |
G |
7: 48,530,018 (GRCm39) |
|
probably benign |
Het |
| Ercc4 |
A |
G |
16: 12,943,146 (GRCm39) |
H255R |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,960,928 (GRCm39) |
D234N |
probably damaging |
Het |
| Foxp1 |
A |
T |
6: 98,993,637 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,820,089 (GRCm39) |
V5274D |
probably benign |
Het |
| Gm21718 |
A |
G |
14: 51,554,104 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr85 |
G |
A |
6: 13,836,146 (GRCm39) |
P253S |
probably benign |
Het |
| Grm7 |
A |
T |
6: 111,335,985 (GRCm39) |
I799F |
probably damaging |
Het |
| Inpp1 |
A |
G |
1: 52,836,215 (GRCm39) |
F84L |
possibly damaging |
Het |
| Kprp |
T |
A |
3: 92,732,909 (GRCm39) |
E47V |
probably damaging |
Het |
| Krt9 |
CTGC |
CTGCNNNNNNNNNNNNNNNNNNNNNTGC |
11: 100,079,640 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,633,634 (GRCm39) |
|
probably benign |
Het |
| Lurap1l |
C |
G |
4: 80,829,767 (GRCm39) |
A59G |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,410,290 (GRCm39) |
T353S |
probably benign |
Het |
| Mctp2 |
A |
G |
7: 71,814,471 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,700,334 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
T |
A |
19: 12,438,689 (GRCm39) |
V49D |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,843,629 (GRCm39) |
P859S |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Parn |
A |
T |
16: 13,468,538 (GRCm39) |
Y214* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,374,632 (GRCm39) |
E357G |
possibly damaging |
Het |
| Prex2 |
C |
T |
1: 11,150,316 (GRCm39) |
Q163* |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,189,681 (GRCm39) |
S294T |
probably benign |
Het |
| Slc46a1 |
A |
G |
11: 78,361,550 (GRCm39) |
N399D |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,720 (GRCm39) |
F213S |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,914,446 (GRCm39) |
E1967G |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,218 (GRCm39) |
*866Q |
probably null |
Het |
|
| Other mutations in Cd274 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01766:Cd274
|
APN |
19 |
29,362,810 (GRCm39) |
makesense |
probably null |
|
|
IGL02232:Cd274
|
APN |
19 |
29,359,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03304:Cd274
|
APN |
19 |
29,361,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1233:Cd274
|
UTSW |
19 |
29,351,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1464:Cd274
|
UTSW |
19 |
29,359,992 (GRCm39) |
splice site |
probably benign |
|
|
R1853:Cd274
|
UTSW |
19 |
29,357,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4280:Cd274
|
UTSW |
19 |
29,357,871 (GRCm39) |
missense |
probably benign |
|
|
R4283:Cd274
|
UTSW |
19 |
29,357,871 (GRCm39) |
missense |
probably benign |
|
|
R4553:Cd274
|
UTSW |
19 |
29,357,848 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5063:Cd274
|
UTSW |
19 |
29,361,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5122:Cd274
|
UTSW |
19 |
29,357,965 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5187:Cd274
|
UTSW |
19 |
29,359,936 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5736:Cd274
|
UTSW |
19 |
29,359,940 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6400:Cd274
|
UTSW |
19 |
29,362,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8114:Cd274
|
UTSW |
19 |
29,361,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8247:Cd274
|
UTSW |
19 |
29,362,795 (GRCm39) |
nonsense |
probably null |
|
|
R9099:Cd274
|
UTSW |
19 |
29,357,771 (GRCm39) |
nonsense |
probably null |
|
|
R9525:Cd274
|
UTSW |
19 |
29,359,879 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGAACATTCCCAGGGAGGTGG -3'
(R):5'- AAAAGCTGGTCCTTTGGCAGCG -3'
Sequencing Primer
(F):5'- GGTTCCTTTTAAACAAGACTGGG -3'
(R):5'- CCCCCTGAAGTTGCTGTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation