Incidental Mutation 'R6688:Plg'
| ID |
527875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plg
|
| Ensembl Gene |
ENSMUSG00000059481 |
| Gene Name |
plasminogen |
| Synonyms |
Pg |
| MMRRC Submission |
044806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R6688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
12597496-12638271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12610732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 215
(H215L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014578]
|
| AlphaFold |
P20918 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014578
AA Change: H215L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014578
Gene: ENSMUSG00000059481
AA Change: H215L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PAN_AP
|
20 |
97 |
8.67e-14 |
SMART |
|
KR
|
101 |
183 |
1.31e-41 |
SMART |
|
KR
|
184 |
264 |
5.4e-43 |
SMART |
|
KR
|
273 |
354 |
3.45e-50 |
SMART |
|
KR
|
375 |
456 |
3.9e-49 |
SMART |
|
KR
|
479 |
562 |
5.53e-40 |
SMART |
|
Tryp_SPc
|
581 |
805 |
4.11e-94 |
SMART |
|
| Meta Mutation Damage Score |
0.8716 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted blood zymogen that is activated by proteolysis and converted to plasmin and angiostatin. Plasmin dissolves fibrin in blood clots and is an important protease in many other cellular processes while angiostatin inhibits angiogenesis. Defects in this gene are likely a cause of thrombophilia and ligneous conjunctivitis. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous null mutants exhibit retarded growth, variable rectal prolapse, impaired fertility and lactation in females, early mortality, and widespread fibrin deposition and thrombotic lesions in liver, lung, stomach and other tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn1 |
A |
T |
13: 45,721,147 (GRCm39) |
H249Q |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,572,389 (GRCm39) |
S362A |
possibly damaging |
Het |
| Cep120 |
G |
A |
18: 53,857,608 (GRCm39) |
P286S |
probably benign |
Het |
| Ces1g |
G |
A |
8: 94,033,600 (GRCm39) |
P441S |
possibly damaging |
Het |
| Ces2h |
A |
G |
8: 105,744,472 (GRCm39) |
I316V |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,600,899 (GRCm39) |
D747E |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,015 (GRCm39) |
V572A |
probably benign |
Het |
| Cyb5rl |
C |
T |
4: 106,931,102 (GRCm39) |
A128V |
probably damaging |
Het |
| Dnttip1 |
T |
C |
2: 164,607,081 (GRCm39) |
Y241H |
probably damaging |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,343,278 (GRCm39) |
T11A |
possibly damaging |
Het |
| Ip6k2 |
C |
A |
9: 108,683,210 (GRCm39) |
T440K |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,578,749 (GRCm39) |
N126D |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,774,041 (GRCm39) |
F5551I |
possibly damaging |
Het |
| Myh11 |
A |
G |
16: 14,023,417 (GRCm39) |
L1587P |
probably damaging |
Het |
| Nherf4 |
C |
T |
9: 44,159,527 (GRCm39) |
|
probably null |
Het |
| Nop53 |
A |
G |
7: 15,679,779 (GRCm39) |
V67A |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,949,135 (GRCm39) |
T1045A |
probably benign |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rapgef2 |
T |
A |
3: 78,976,435 (GRCm39) |
Q1307L |
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,166,870 (GRCm39) |
E129G |
possibly damaging |
Het |
| Stx1b |
C |
T |
7: 127,407,068 (GRCm39) |
R209Q |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,738,736 (GRCm39) |
I905T |
possibly damaging |
Het |
| Tmem252 |
G |
A |
19: 24,651,463 (GRCm39) |
A11T |
probably benign |
Het |
| Tpst2 |
A |
G |
5: 112,455,623 (GRCm39) |
N54S |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,277,553 (GRCm39) |
S269G |
probably benign |
Het |
| Wasf1 |
T |
C |
10: 40,802,616 (GRCm39) |
|
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,544,249 (GRCm39) |
V58D |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,678,940 (GRCm39) |
T322A |
possibly damaging |
Het |
|
| Other mutations in Plg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Plg
|
APN |
17 |
12,630,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01128:Plg
|
APN |
17 |
12,615,586 (GRCm39) |
splice site |
probably benign |
|
|
IGL01522:Plg
|
APN |
17 |
12,622,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01981:Plg
|
APN |
17 |
12,621,934 (GRCm39) |
splice site |
probably benign |
|
|
IGL03338:Plg
|
APN |
17 |
12,637,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
elder
|
UTSW |
17 |
12,609,107 (GRCm39) |
nonsense |
probably null |
|
|
oldster
|
UTSW |
17 |
12,614,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Plg
|
UTSW |
17 |
12,637,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Plg
|
UTSW |
17 |
12,630,334 (GRCm39) |
splice site |
probably benign |
|
|
R0646:Plg
|
UTSW |
17 |
12,637,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0759:Plg
|
UTSW |
17 |
12,629,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1013:Plg
|
UTSW |
17 |
12,597,608 (GRCm39) |
splice site |
probably benign |
|
|
R2116:Plg
|
UTSW |
17 |
12,603,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2442:Plg
|
UTSW |
17 |
12,629,847 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2512:Plg
|
UTSW |
17 |
12,622,116 (GRCm39) |
missense |
probably benign |
|
|
R2879:Plg
|
UTSW |
17 |
12,622,987 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3107:Plg
|
UTSW |
17 |
12,603,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3405:Plg
|
UTSW |
17 |
12,622,096 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4409:Plg
|
UTSW |
17 |
12,609,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4861:Plg
|
UTSW |
17 |
12,614,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4861:Plg
|
UTSW |
17 |
12,614,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4977:Plg
|
UTSW |
17 |
12,621,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:Plg
|
UTSW |
17 |
12,630,397 (GRCm39) |
missense |
probably benign |
|
|
R5319:Plg
|
UTSW |
17 |
12,622,114 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5443:Plg
|
UTSW |
17 |
12,601,070 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5635:Plg
|
UTSW |
17 |
12,614,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5981:Plg
|
UTSW |
17 |
12,597,605 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6166:Plg
|
UTSW |
17 |
12,617,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6726:Plg
|
UTSW |
17 |
12,597,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Plg
|
UTSW |
17 |
12,637,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7028:Plg
|
UTSW |
17 |
12,610,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7168:Plg
|
UTSW |
17 |
12,607,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7356:Plg
|
UTSW |
17 |
12,629,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Plg
|
UTSW |
17 |
12,629,790 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9035:Plg
|
UTSW |
17 |
12,609,107 (GRCm39) |
nonsense |
probably null |
|
|
R9474:Plg
|
UTSW |
17 |
12,622,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Plg
|
UTSW |
17 |
12,609,213 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9611:Plg
|
UTSW |
17 |
12,609,213 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Plg
|
UTSW |
17 |
12,633,072 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Plg
|
UTSW |
17 |
12,622,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCCGGTTTATGTTCCACTG -3'
(R):5'- AGGCTTGGATGCTGCCTTTC -3'
Sequencing Primer
(F):5'- CCACTGTGTTTCAATGTCGG -3'
(R):5'- CCTCTGGACCATGTGATGAGTAAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation