Incidental Mutation 'R7168:Plg'
ID 558085
Institutional Source Beutler Lab
Gene Symbol Plg
Ensembl Gene ENSMUSG00000059481
Gene Name plasminogen
Synonyms Pg
MMRRC Submission 045263-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R7168 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 12597496-12638271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12607446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 121 (G121D)
Ref Sequence ENSEMBL: ENSMUSP00000014578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014578]
AlphaFold P20918
Predicted Effect probably damaging
Transcript: ENSMUST00000014578
AA Change: G121D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000014578
Gene: ENSMUSG00000059481
AA Change: G121D

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (66/66)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,262,831 (GRCm39) D1388V probably damaging Het
2900026A02Rik C A 5: 113,285,659 (GRCm39) R65L probably damaging Het
Abcb10 A T 8: 124,693,350 (GRCm39) L318Q Het
Abhd18 T A 3: 40,889,371 (GRCm39) V417D probably damaging Het
Actl7a A G 4: 56,743,769 (GRCm39) K99E probably benign Het
Adam2 A T 14: 66,296,241 (GRCm39) I206N possibly damaging Het
Adgrv1 G T 13: 81,545,328 (GRCm39) S5652R possibly damaging Het
Aebp2 C T 6: 140,579,426 (GRCm39) T221M probably damaging Het
Ahi1 T A 10: 20,893,831 (GRCm39) M854K probably benign Het
Alpi T A 1: 87,027,155 (GRCm39) T375S possibly damaging Het
Apip T A 2: 102,922,813 (GRCm39) C210* probably null Het
Arid3b A T 9: 57,712,818 (GRCm39) D232E probably benign Het
Asic5 G A 3: 81,919,282 (GRCm39) C342Y probably damaging Het
BC035947 T C 1: 78,476,230 (GRCm39) M101V probably benign Het
Brd3 G A 2: 27,344,411 (GRCm39) R440C possibly damaging Het
Deaf1 C T 7: 140,904,509 (GRCm39) probably benign Het
Eif2ak3 A G 6: 70,858,610 (GRCm39) T300A probably benign Het
Eml6 T A 11: 29,788,529 (GRCm39) I519F probably benign Het
Fat4 T C 3: 39,034,808 (GRCm39) F2820S probably damaging Het
Fcho2 A G 13: 98,925,971 (GRCm39) I132T probably benign Het
Garnl3 A G 2: 32,885,090 (GRCm39) V810A probably damaging Het
Gm14403 A C 2: 177,201,318 (GRCm39) Q179P probably damaging Het
Gm3127 A G 14: 15,432,250 (GRCm39) M251V probably benign Het
Hook3 A G 8: 26,561,114 (GRCm39) S298P probably benign Het
Impact T A 18: 13,119,370 (GRCm39) probably null Het
Itgal T C 7: 126,929,385 (GRCm39) F1101L probably benign Het
Itih1 C T 14: 30,656,064 (GRCm39) R579Q probably null Het
Kansl2 T C 15: 98,427,425 (GRCm39) probably null Het
Kng1 A G 16: 22,898,391 (GRCm39) D597G probably benign Het
Kpna1 A G 16: 35,836,332 (GRCm39) probably benign Het
Lama2 C T 10: 27,242,148 (GRCm39) probably null Het
Ltbp1 G T 17: 75,598,361 (GRCm39) C614F probably damaging Het
Luc7l3 T C 11: 94,190,810 (GRCm39) E168G unknown Het
Lvrn A C 18: 47,014,389 (GRCm39) K525T probably benign Het
Mdn1 G A 4: 32,719,184 (GRCm39) R2249H probably damaging Het
Mmp16 G T 4: 18,110,550 (GRCm39) G449C probably damaging Het
Mst1r T C 9: 107,785,392 (GRCm39) V350A probably benign Het
Muc5b A G 7: 141,417,754 (GRCm39) M3567V probably benign Het
Mybl1 A T 1: 9,748,513 (GRCm39) L361Q probably damaging Het
Myom1 T A 17: 71,396,942 (GRCm39) S1063R probably benign Het
Notch4 A C 17: 34,791,667 (GRCm39) H582P probably benign Het
Nwd2 T A 5: 63,964,837 (GRCm39) C1474S probably benign Het
Or10ak14 A T 4: 118,611,048 (GRCm39) I231N probably damaging Het
Or4g17 A T 2: 111,210,224 (GRCm39) D293V probably damaging Het
Or5d36 A C 2: 87,900,921 (GRCm39) N268K probably benign Het
Or8b40 G T 9: 38,027,959 (GRCm39) S294I probably damaging Het
Pcmt1 A T 10: 7,513,946 (GRCm39) V241D probably damaging Het
Plcl1 T A 1: 55,736,622 (GRCm39) N654K probably damaging Het
Ptch1 A G 13: 63,659,874 (GRCm39) S1260P probably benign Het
Pwp1 G T 10: 85,720,401 (GRCm39) R346I probably damaging Het
R3hdm1 C T 1: 128,144,232 (GRCm39) T800I probably benign Het
Rab3gap2 A G 1: 184,936,494 (GRCm39) D19G possibly damaging Het
Resf1 T G 6: 149,229,341 (GRCm39) F796V probably benign Het
Slc1a3 G T 15: 8,675,386 (GRCm39) N206K possibly damaging Het
Slc6a3 T C 13: 73,719,591 (GRCm39) V540A probably benign Het
Sntb1 G A 15: 55,654,661 (GRCm39) P265S probably benign Het
Timm29 T C 9: 21,504,749 (GRCm39) V139A probably damaging Het
Tktl2 A G 8: 66,965,753 (GRCm39) E437G probably damaging Het
Tm2d3 T A 7: 65,343,674 (GRCm39) V56E probably benign Het
Trhr2 T A 8: 123,087,276 (GRCm39) T55S probably damaging Het
Trim17 T G 11: 58,859,404 (GRCm39) V206G probably benign Het
Trpm1 A G 7: 63,918,445 (GRCm39) N1479S probably benign Het
Trpv2 T A 11: 62,473,914 (GRCm39) C190S probably benign Het
Umod A T 7: 119,077,549 (GRCm39) probably benign Het
Usp34 T A 11: 23,414,585 (GRCm39) Y2862N Het
Vmn1r158 A G 7: 22,490,101 (GRCm39) V36A possibly damaging Het
Zfp420 A G 7: 29,574,791 (GRCm39) Y337C 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
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
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'- AGACCTTGGTTAGAGGTCTTTC -3'
(R):5'- GACGGGCCTCCTTCTATGTTTTAG -3'

Sequencing Primer
(F):5'- CCTGTGTTGGGACTGTGCC -3'
(R):5'- CTGTGTTGTAAATATTCAGCTGCTC -3'
Posted On 2019-06-26