Incidental Mutation 'R2442:Plg'
ID 249839
Institutional Source Beutler Lab
Gene Symbol Plg
Ensembl Gene ENSMUSG00000059481
Gene Name plasminogen
Synonyms Pg
MMRRC Submission 040400-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R2442 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 12597496-12638271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12629847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 627 (E627G)
Ref Sequence ENSEMBL: ENSMUSP00000014578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014578]
AlphaFold P20918
Predicted Effect probably benign
Transcript: ENSMUST00000014578
AA Change: E627G

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000014578
Gene: ENSMUSG00000059481
AA Change: E627G

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,547,606 (GRCm39) V256A probably benign Het
Acap1 T C 11: 69,780,317 (GRCm39) N42S possibly damaging Het
Apoo-ps C A 13: 107,551,140 (GRCm39) noncoding transcript Het
Bri3 C T 5: 144,181,411 (GRCm39) T39I probably benign Het
Bsn A G 9: 107,984,119 (GRCm39) S3312P unknown Het
Camkmt C A 17: 85,398,203 (GRCm39) A17E possibly damaging Het
Cc2d2a G T 5: 43,828,647 (GRCm39) probably null Het
Ccdc122 G T 14: 77,329,398 (GRCm39) M150I possibly damaging Het
Celf4 A G 18: 25,886,516 (GRCm39) F57L probably damaging Het
Cep192 T A 18: 67,957,759 (GRCm39) F564Y possibly damaging Het
Ces1c T C 8: 93,849,840 (GRCm39) D38G probably damaging Het
Cts7 C A 13: 61,503,431 (GRCm39) G178* probably null Het
Dcc A T 18: 71,589,954 (GRCm39) Y681N probably damaging Het
Dhx29 A G 13: 113,083,508 (GRCm39) E521G possibly damaging Het
Dnase2a T C 8: 85,635,622 (GRCm39) V35A probably damaging Het
Eif3l A G 15: 78,969,807 (GRCm39) M268V probably damaging Het
Foxc1 A G 13: 31,992,781 (GRCm39) M531V unknown Het
Grin2c A G 11: 115,141,960 (GRCm39) Y820H probably damaging Het
Ifit1bl1 G A 19: 34,572,289 (GRCm39) A56V probably benign Het
Iqsec1 T C 6: 90,666,865 (GRCm39) E524G possibly damaging Het
Kcnt2 A G 1: 140,304,091 (GRCm39) I154V possibly damaging Het
Kdm1b T A 13: 47,216,451 (GRCm39) Y274N probably benign Het
Kntc1 T A 5: 123,948,922 (GRCm39) L1889Q probably damaging Het
Lama1 A G 17: 68,075,312 (GRCm39) T1010A probably benign Het
Mmp11 T C 10: 75,763,079 (GRCm39) N171S probably benign Het
Myom1 A G 17: 71,417,730 (GRCm39) E1409G probably damaging Het
N4bp1 A G 8: 87,588,668 (GRCm39) I90T probably damaging Het
Or4c52 T C 2: 89,845,685 (GRCm39) V137A probably benign Het
Plcb4 T C 2: 135,792,302 (GRCm39) S342P probably damaging Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc7a14 A G 3: 31,284,469 (GRCm39) I289T probably damaging Het
Srpra G A 9: 35,123,297 (GRCm39) G43S possibly damaging Het
Tbc1d9 T C 8: 83,892,705 (GRCm39) M1T probably null Het
Tcte2 A T 17: 13,934,339 (GRCm39) I90N possibly damaging Het
Trim30c G A 7: 104,031,481 (GRCm39) P445S probably damaging Het
Trrap A G 5: 144,754,776 (GRCm39) Q1984R probably damaging Het
Ubn2 T C 6: 38,467,940 (GRCm39) S885P probably benign Het
Unc45a A G 7: 79,989,417 (GRCm39) F17S probably damaging Het
Uts2b C T 16: 27,179,782 (GRCm39) V75I probably benign Het
Vmn2r103 A G 17: 19,993,793 (GRCm39) K57E probably benign Het
Vmn2r82 A G 10: 79,221,210 (GRCm39) S524G probably damaging Het
Other mutations in Plg
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6688:Plg UTSW 17 12,610,732 (GRCm39) missense probably damaging 1.00
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'- ACAGGTGGCATCCAAGACTC -3'
(R):5'- TGTCACTACCATGGAAGGCAG -3'

Sequencing Primer
(F):5'- CCCAGATATCTTAAGATTGGTCTGG -3'
(R):5'- CACTACCATGGAAGGCAGACAGAG -3'
Posted On 2014-11-12