Incidental Mutation 'R1065:Plat'
| ID |
85966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plat
|
| Ensembl Gene |
ENSMUSG00000031538 |
| Gene Name |
plasminogen activator, tissue |
| Synonyms |
D8Ertd2e, tPA, t-PA |
| MMRRC Submission |
039151-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1065 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
23247743-23272860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23266879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 290
(D290E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033941]
|
| AlphaFold |
P11214 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033941
AA Change: D290E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033941
Gene: ENSMUSG00000031538
AA Change: D290E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
FN1
|
38 |
80 |
5.69e-15 |
SMART |
|
EGF
|
82 |
117 |
4.92e-5 |
SMART |
|
KR
|
122 |
207 |
3.77e-33 |
SMART |
|
KR
|
211 |
296 |
4.39e-34 |
SMART |
|
Tryp_SPc
|
308 |
553 |
6.59e-84 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210960
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: This gene encodes a key enzyme of the fibrinolytic pathway. The encoded protein undergoes proteolytic processing by plasmin to generate a heterodimeric serine protease that cleaves the proenzyme plasminogen to produce plasmin, a protease that is required to break down fibrin clots. Additionally, the encoded protein is involved in other biological processes such as synaptic plasticity, cell migration and tissue remodeling. Mice lacking the encoded protein display a reduction in long-term potentiation in hippocampus and conversely, transgenic mice overexpressing the encoded protein have increased and prolonged long-term potentiation. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal behavior, CNS synpatic transmission, and response to injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd300ld2 |
T |
C |
11: 114,904,586 (GRCm39) |
T94A |
probably damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,372,856 (GRCm39) |
S1515N |
probably damaging |
Het |
| Ckb |
T |
C |
12: 111,637,681 (GRCm39) |
E150G |
probably benign |
Het |
| Clec2m |
A |
G |
6: 129,300,013 (GRCm39) |
I155T |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,327 (GRCm39) |
M785L |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,758,982 (GRCm39) |
N2075D |
probably damaging |
Het |
| Commd7 |
G |
C |
2: 153,461,447 (GRCm39) |
|
probably benign |
Het |
| Corin |
G |
A |
5: 72,458,993 (GRCm39) |
R927* |
probably null |
Het |
| Dync2i1 |
C |
T |
12: 116,219,696 (GRCm39) |
R82H |
probably damaging |
Het |
| Ift122 |
A |
T |
6: 115,852,286 (GRCm39) |
|
probably null |
Het |
| Il1b |
G |
A |
2: 129,209,927 (GRCm39) |
T83I |
probably benign |
Het |
| Ints4 |
T |
C |
7: 97,157,099 (GRCm39) |
|
probably null |
Het |
| Msh6 |
T |
G |
17: 88,295,891 (GRCm39) |
|
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,442,859 (GRCm39) |
K392E |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,888 (GRCm39) |
H264R |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,422,458 (GRCm39) |
|
probably benign |
Het |
| Pde6h |
A |
C |
6: 136,936,368 (GRCm39) |
K37T |
probably damaging |
Het |
| Polk |
A |
C |
13: 96,644,760 (GRCm39) |
L122R |
probably damaging |
Het |
| Ppp1r3g |
T |
A |
13: 36,153,418 (GRCm39) |
D279E |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,535,651 (GRCm39) |
E370G |
possibly damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,292,478 (GRCm39) |
Y187C |
probably benign |
Het |
| Rps6ka2 |
C |
T |
17: 7,549,157 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,012,462 (GRCm39) |
S41P |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 81,431,343 (GRCm39) |
L958Q |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,952,636 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,830,050 (GRCm39) |
N72I |
probably damaging |
Het |
| Strc |
C |
A |
2: 121,197,132 (GRCm39) |
D1532Y |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
G |
18: 5,063,777 (GRCm39) |
|
probably benign |
Het |
| Traf3ip1 |
T |
A |
1: 91,428,506 (GRCm39) |
D122E |
unknown |
Het |
| Vmn2r7 |
A |
T |
3: 64,614,559 (GRCm39) |
D509E |
possibly damaging |
Het |
| Vps52 |
C |
A |
17: 34,180,213 (GRCm39) |
Q306K |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp418 |
C |
A |
7: 7,184,561 (GRCm39) |
Q175K |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
probably damaging |
Het |
|
| Other mutations in Plat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01457:Plat
|
APN |
8 |
23,266,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01918:Plat
|
APN |
8 |
23,270,453 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01998:Plat
|
APN |
8 |
23,257,163 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02978:Plat
|
APN |
8 |
23,266,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0829:Plat
|
UTSW |
8 |
23,262,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2316:Plat
|
UTSW |
8 |
23,266,881 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4485:Plat
|
UTSW |
8 |
23,262,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4873:Plat
|
UTSW |
8 |
23,258,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4875:Plat
|
UTSW |
8 |
23,258,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4924:Plat
|
UTSW |
8 |
23,268,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5051:Plat
|
UTSW |
8 |
23,263,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5062:Plat
|
UTSW |
8 |
23,262,327 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5402:Plat
|
UTSW |
8 |
23,262,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5672:Plat
|
UTSW |
8 |
23,263,664 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6306:Plat
|
UTSW |
8 |
23,262,282 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7035:Plat
|
UTSW |
8 |
23,262,327 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7154:Plat
|
UTSW |
8 |
23,268,521 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7297:Plat
|
UTSW |
8 |
23,265,713 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7432:Plat
|
UTSW |
8 |
23,263,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7514:Plat
|
UTSW |
8 |
23,265,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7680:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7742:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7885:Plat
|
UTSW |
8 |
23,261,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7918:Plat
|
UTSW |
8 |
23,263,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8039:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8040:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8243:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8347:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Plat
|
UTSW |
8 |
23,261,758 (GRCm39) |
nonsense |
probably null |
|
|
R8422:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8423:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8424:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8426:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8510:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8714:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8717:Plat
|
UTSW |
8 |
23,262,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9140:Plat
|
UTSW |
8 |
23,270,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Plat
|
UTSW |
8 |
23,268,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9289:Plat
|
UTSW |
8 |
23,272,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9328:Plat
|
UTSW |
8 |
23,268,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Plat
|
UTSW |
8 |
23,265,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9557:Plat
|
UTSW |
8 |
23,262,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGCTTTCAGTTCTTCCCAACGC -3'
(R):5'- CCCTAGCTGTGGTCAAGAAAACCTC -3'
Sequencing Primer
(F):5'- AGTTCTTCCCAACGCTCATAG -3'
(R):5'- TGTGGTCAAGAAAACCTCTCTACC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation