Incidental Mutation 'IGL00834:Plg'
ID 13053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plg
Ensembl Gene ENSMUSG00000059481
Gene Name plasminogen
Synonyms Pg
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # IGL00834
Quality Score
Status
Chromosome 17
Chromosomal Location 12597496-12638271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12630380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 639 (L639Q)
Ref Sequence ENSEMBL: ENSMUSP00000014578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014578]
AlphaFold P20918
Predicted Effect probably damaging
Transcript: ENSMUST00000014578
AA Change: L639Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000014578
Gene: ENSMUSG00000059481
AA Change: L639Q

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A G 13: 4,562,664 (GRCm39) probably null Het
Alg5 T C 3: 54,652,140 (GRCm39) probably benign Het
App A T 16: 84,762,599 (GRCm39) F675I probably damaging Het
Atad1 C A 19: 32,675,968 (GRCm39) C152F probably benign Het
Atp2a3 A C 11: 72,873,613 (GRCm39) I829L probably damaging Het
B3galt1 C T 2: 67,949,050 (GRCm39) S255L probably damaging Het
Bptf A G 11: 106,964,754 (GRCm39) V1417A possibly damaging Het
Cast T A 13: 74,885,093 (GRCm39) T219S probably damaging Het
Cep95 A T 11: 106,709,043 (GRCm39) I705F probably damaging Het
Cnot3 C T 7: 3,653,854 (GRCm39) A2V probably damaging Het
Col1a1 A G 11: 94,840,204 (GRCm39) D1084G unknown Het
Col5a3 G A 9: 20,697,685 (GRCm39) Q873* probably null Het
Cubn C T 2: 13,386,738 (GRCm39) G1509D probably damaging Het
Defb10 T A 8: 22,351,952 (GRCm39) C66S possibly damaging Het
Dennd4b T C 3: 90,186,993 (GRCm39) probably null Het
Dido1 G A 2: 180,331,319 (GRCm39) T43M possibly damaging Het
Hmcn1 C T 1: 150,506,091 (GRCm39) V3812I probably benign Het
Islr2 T C 9: 58,107,069 (GRCm39) T64A probably benign Het
Kif2b A T 11: 91,467,206 (GRCm39) I359N probably damaging Het
Kit A C 5: 75,806,619 (GRCm39) N704T probably damaging Het
Ksr1 A G 11: 78,918,343 (GRCm39) F604L probably damaging Het
Lrp5 A T 19: 3,699,404 (GRCm39) F294I probably benign Het
Lrrn1 A G 6: 107,545,269 (GRCm39) T356A probably benign Het
Mrps17 G A 5: 129,793,829 (GRCm39) V8I probably benign Het
Nop56 T A 2: 130,117,915 (GRCm39) H130Q possibly damaging Het
Ppcdc A G 9: 57,322,423 (GRCm39) F159L probably benign Het
Ppp1ca A G 19: 4,244,519 (GRCm39) T193A probably benign Het
Prpf39 A G 12: 65,090,037 (GRCm39) D117G probably damaging Het
Ranbp2 C A 10: 58,289,145 (GRCm39) T51K possibly damaging Het
Sytl2 A G 7: 90,031,844 (GRCm39) probably benign Het
Tenm2 T A 11: 35,915,085 (GRCm39) I2150F probably damaging Het
Wdr11 T G 7: 129,194,817 (GRCm39) probably null Het
Other mutations in Plg
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06