Incidental Mutation 'R0391:Plg'
ID 31729
Institutional Source Beutler Lab
Gene Symbol Plg
Ensembl Gene ENSMUSG00000059481
Gene Name plasminogen
Synonyms Pg
MMRRC Submission 038597-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R0391 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 12597496-12638271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12637968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 798 (V798A)
Ref Sequence ENSEMBL: ENSMUSP00000014578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014578] [ENSMUST00000024595]
AlphaFold P20918
Predicted Effect probably damaging
Transcript: ENSMUST00000014578
AA Change: V798A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014578
Gene: ENSMUSG00000059481
AA Change: V798A

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
Predicted Effect probably benign
Transcript: ENSMUST00000024595
SMART Domains Protein: ENSMUSP00000024595
Gene: ENSMUSG00000023828

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Sugar_tr 105 526 1.2e-28 PFAM
Pfam:MFS_1 144 395 3.3e-22 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 97% (97/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T A 4: 122,594,970 (GRCm39) probably benign Het
Abcc2 G A 19: 43,810,044 (GRCm39) probably benign Het
Abcc8 C G 7: 45,771,597 (GRCm39) G838A probably damaging Het
Akr1c21 G A 13: 4,631,199 (GRCm39) A245T probably damaging Het
Anapc15-ps T C 10: 95,509,139 (GRCm39) E47G probably damaging Het
Apoa1 A G 9: 46,141,140 (GRCm39) T79A probably benign Het
Atp6v1b1 A G 6: 83,733,903 (GRCm39) H378R possibly damaging Het
C4b A G 17: 34,954,588 (GRCm39) probably benign Het
Catsperd A T 17: 56,969,821 (GRCm39) E638D probably benign Het
Cckar C T 5: 53,863,595 (GRCm39) probably null Het
Cfap100 C T 6: 90,382,321 (GRCm39) probably benign Het
Chd1 G T 17: 15,970,156 (GRCm39) G970C probably damaging Het
Col14a1 A G 15: 55,309,655 (GRCm39) probably benign Het
Col17a1 C T 19: 47,652,263 (GRCm39) V698M probably damaging Het
Cpeb1 T C 7: 81,011,473 (GRCm39) D156G possibly damaging Het
Cryl1 A G 14: 57,541,232 (GRCm39) Y151H possibly damaging Het
Csmd3 C A 15: 47,520,969 (GRCm39) V1881L probably damaging Het
Ctnnal1 C T 4: 56,847,921 (GRCm39) A73T probably damaging Het
Cyp2c37 T C 19: 39,982,950 (GRCm39) S180P probably damaging Het
Cyp2c54 T C 19: 40,060,613 (GRCm39) T123A possibly damaging Het
Dennd6b T C 15: 89,071,417 (GRCm39) D304G probably damaging Het
Dnmt3l T C 10: 77,887,750 (GRCm39) probably benign Het
Eci1 G A 17: 24,652,234 (GRCm39) probably null Het
Efhc1 A G 1: 21,030,412 (GRCm39) Y115C probably damaging Het
Ern1 T A 11: 106,298,004 (GRCm39) K706* probably null Het
Ghrl T C 6: 113,696,299 (GRCm39) E31G probably damaging Het
Gpr108 A C 17: 57,550,101 (GRCm39) V179G probably benign Het
Henmt1 A G 3: 108,865,851 (GRCm39) probably benign Het
Ift172 A G 5: 31,444,011 (GRCm39) V69A probably damaging Het
Il17ra T C 6: 120,453,940 (GRCm39) probably benign Het
Il17rb T C 14: 29,726,304 (GRCm39) N95D probably benign Het
Il17rb G T 14: 29,728,112 (GRCm39) probably null Het
Iqub G A 6: 24,446,154 (GRCm39) L757F probably benign Het
Itpr1 T C 6: 108,355,128 (GRCm39) V473A probably benign Het
Itpr2 T G 6: 146,131,271 (GRCm39) N1978H probably damaging Het
Klk1b26 T A 7: 43,662,151 (GRCm39) F3Y probably damaging Het
Lars1 A G 18: 42,384,428 (GRCm39) V50A probably benign Het
Lax1 G T 1: 133,607,804 (GRCm39) H312Q probably benign Het
Lctl T C 9: 64,029,596 (GRCm39) probably benign Het
Lrp2 T A 2: 69,287,202 (GRCm39) D3745V probably damaging Het
Lrp2 G A 2: 69,290,681 (GRCm39) probably benign Het
Lvrn A T 18: 46,983,533 (GRCm39) H92L probably benign Het
Marchf1 A G 8: 66,871,625 (GRCm39) T385A probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mbd5 T C 2: 49,162,428 (GRCm39) V970A possibly damaging Het
Mccc1 A G 3: 36,017,719 (GRCm39) probably benign Het
Mpp4 A T 1: 59,182,988 (GRCm39) probably benign Het
Mrnip G A 11: 50,090,747 (GRCm39) A304T probably damaging Het
Muc5b T C 7: 141,418,819 (GRCm39) S3922P possibly damaging Het
Myh3 T A 11: 66,987,333 (GRCm39) probably benign Het
Nbea A T 3: 55,944,698 (GRCm39) H555Q probably damaging Het
Niban3 T A 8: 72,055,143 (GRCm39) probably benign Het
Nlrp9c A T 7: 26,070,901 (GRCm39) probably benign Het
Nmur1 A T 1: 86,315,400 (GRCm39) V178E probably damaging Het
Nod2 T G 8: 89,390,406 (GRCm39) S238A probably benign Het
Ogfod1 A T 8: 94,789,651 (GRCm39) T451S probably damaging Het
Or1e17 T C 11: 73,831,935 (GRCm39) F288L probably damaging Het
Or2d36 T A 7: 106,747,394 (GRCm39) Y290* probably null Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or8b8 G A 9: 37,809,138 (GRCm39) G146D probably benign Het
Pcdh20 T C 14: 88,706,104 (GRCm39) I399V probably benign Het
Pdlim1 G T 19: 40,232,017 (GRCm39) H120Q probably damaging Het
Polr2c A G 8: 95,584,403 (GRCm39) I39V possibly damaging Het
Ppfia2 C A 10: 106,666,575 (GRCm39) probably benign Het
Ppp1r3a A T 6: 14,719,696 (GRCm39) I406N probably benign Het
Psg28 A T 7: 18,160,098 (GRCm39) M366K probably benign Het
Rad54b T C 4: 11,601,702 (GRCm39) I419T probably damaging Het
Rnf43 A G 11: 87,622,108 (GRCm39) Q403R possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Slc28a3 A G 13: 58,717,229 (GRCm39) probably benign Het
Smad2 A T 18: 76,422,108 (GRCm39) probably null Het
Smad4 G A 18: 73,791,720 (GRCm39) P274S probably benign Het
Smchd1 A T 17: 71,710,149 (GRCm39) V906D probably damaging Het
Soat2 C A 15: 102,067,188 (GRCm39) R320S possibly damaging Het
Spata33 C T 8: 123,948,626 (GRCm39) A57V probably damaging Het
Stab1 A G 14: 30,865,375 (GRCm39) L1814P probably benign Het
Stab2 T C 10: 86,783,008 (GRCm39) K680R probably benign Het
Stil A G 4: 114,898,369 (GRCm39) probably null Het
Sympk T A 7: 18,780,774 (GRCm39) L759H probably benign Het
Tet1 A T 10: 62,650,325 (GRCm39) probably null Het
Tfpi2 A T 6: 3,965,460 (GRCm39) N117K probably benign Het
Tle3 A G 9: 61,323,943 (GRCm39) Y766C probably damaging Het
Trpt1 C A 19: 6,975,298 (GRCm39) probably null Het
Tshz1 A G 18: 84,034,174 (GRCm39) F78S possibly damaging Het
Ttc1 T C 11: 43,629,635 (GRCm39) D177G probably damaging Het
Ttc13 T A 8: 125,401,140 (GRCm39) Y741F probably damaging Het
Ulk3 C T 9: 57,502,115 (GRCm39) S462L probably benign Het
Utrn C T 10: 12,401,077 (GRCm39) probably benign Het
V1rd19 A C 7: 23,703,010 (GRCm39) T159P probably damaging Het
Vars1 T C 17: 35,230,462 (GRCm39) V515A possibly damaging Het
Vmn1r85 A G 7: 12,818,515 (GRCm39) Y210H probably benign Het
Vmn2r89 A G 14: 51,693,435 (GRCm39) T262A probably damaging Het
Vps53 G A 11: 76,012,405 (GRCm39) T209I probably benign Het
Wdfy2 T C 14: 63,162,582 (GRCm39) F95L possibly damaging Het
Wwp1 G T 4: 19,627,911 (GRCm39) S694Y probably damaging Het
Zbtb8b T A 4: 129,326,463 (GRCm39) D201V probably damaging Het
Zmym5 A C 14: 57,041,908 (GRCm39) N123K possibly 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
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
Predicted Primers PCR Primer
(F):5'- GGATTTGACAACTCATGGCCTGCG -3'
(R):5'- GCTGGCCCTTGGGAAAACAAAC -3'

Sequencing Primer
(F):5'- TGCGGAGGAATCCCACAG -3'
(R):5'- TTTCAACAAAGGTCACAGCAGTG -3'
Posted On 2013-04-24