Incidental Mutation 'R8685:Plau'
ID 673243
Institutional Source Beutler Lab
Gene Symbol Plau
Ensembl Gene ENSMUSG00000021822
Gene Name plasminogen activator, urokinase
Synonyms u-PA, uPA, urokinase-type plasminogen activator
MMRRC Submission 068540-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8685 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 20886728-20893453 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 20889627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022368] [ENSMUST00000224141]
AlphaFold P06869
Predicted Effect probably benign
Transcript: ENSMUST00000022368
SMART Domains Protein: ENSMUSP00000022368
Gene: ENSMUSG00000021822

DomainStartEndE-ValueType
EGF 10 64 3.23e0 SMART
KR 69 154 3.2e-36 SMART
Tryp_SPc 179 421 3.53e-84 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224141
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes show occasional fibrin deposits in non-healing ulcerations and reduced neointima formation after arterial injury. They are susceptible to thrombosis after traumatic or inflammatory challenge and appear to be immunologically hyporesponsive displaying characteristics of functional anergy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,862,140 (GRCm39) Y50C probably damaging Het
Adgrl3 G T 5: 81,874,708 (GRCm39) D1002Y possibly damaging Het
Aoc3 G A 11: 101,223,042 (GRCm39) R426H probably benign Het
Atf6b A G 17: 34,869,320 (GRCm39) H179R probably benign Het
Bbs4 T C 9: 59,247,138 (GRCm39) T121A probably benign Het
Brca1 T C 11: 101,380,672 (GRCm39) Y1787C probably benign Het
Cbx2 T A 11: 118,918,746 (GRCm39) S104T possibly damaging Het
Cdh10 T A 15: 18,899,851 (GRCm39) N59K possibly damaging Het
Clstn3 C T 6: 124,433,867 (GRCm39) R431H probably damaging Het
Cylc2 C T 4: 51,229,651 (GRCm39) T331M unknown Het
Dcpp3 T C 17: 24,138,096 (GRCm39) S85P probably benign Het
Dip2c A G 13: 9,687,161 (GRCm39) T1262A probably benign Het
Dlgap2 A G 8: 14,881,628 (GRCm39) E900G possibly damaging Het
Dtx4 C T 19: 12,446,995 (GRCm39) D566N probably benign Het
Elmo1 T A 13: 20,474,594 (GRCm39) N339K possibly damaging Het
Gm11596 C A 11: 99,683,816 (GRCm39) R101S unknown Het
Hk1 T C 10: 62,132,453 (GRCm39) probably benign Het
Hrnr T A 3: 93,230,205 (GRCm39) S148T unknown Het
Hyls1 A G 9: 35,472,724 (GRCm39) Y231H probably damaging Het
Il17rb T A 14: 29,726,297 (GRCm39) Y97F probably benign Het
Lamc1 G T 1: 153,109,288 (GRCm39) T1168K probably benign Het
Larp6 A T 9: 60,631,495 (GRCm39) D89V probably damaging Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Myo18a A G 11: 77,745,520 (GRCm39) T1953A probably benign Het
Myo5c A G 9: 75,192,229 (GRCm39) D1127G possibly damaging Het
Myo7a T C 7: 97,746,334 (GRCm39) D266G probably benign Het
Naa35 T A 13: 59,734,036 (GRCm39) M22K probably benign Het
Niban2 T G 2: 32,809,101 (GRCm39) L229R probably benign Het
Or1f19 A T 16: 3,410,904 (GRCm39) I215F probably damaging Het
Pcdha8 T A 18: 37,127,003 (GRCm39) V495E probably damaging Het
Per2 T G 1: 91,378,402 (GRCm39) D49A possibly damaging Het
Plekhg6 T A 6: 125,352,755 (GRCm39) I131L possibly damaging Het
Pnma8b T A 7: 16,679,965 (GRCm39) D316E unknown Het
Ppp4r3b T C 11: 29,159,436 (GRCm39) Y597H possibly damaging Het
Psmd2 T C 16: 20,474,161 (GRCm39) V288A probably benign Het
Slc6a15 T C 10: 103,245,556 (GRCm39) V513A possibly damaging Het
Smarcd3 G A 5: 24,800,988 (GRCm39) R140W probably damaging Het
Srrm4 T C 5: 116,585,380 (GRCm39) R440G unknown Het
Tpsg1 A T 17: 25,592,241 (GRCm39) Y105F possibly damaging Het
Trbv26 C A 6: 41,204,693 (GRCm39) A38E probably damaging Het
Ush2a T A 1: 188,198,401 (GRCm39) N1488K probably damaging Het
Vill A T 9: 118,895,795 (GRCm39) R502S probably benign Het
Zbed6 A T 1: 133,584,754 (GRCm39) L861* probably null Het
Other mutations in Plau
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Plau APN 14 20,888,635 (GRCm39) missense probably benign 0.05
IGL01831:Plau APN 14 20,887,838 (GRCm39) splice site probably benign
IGL02902:Plau APN 14 20,889,965 (GRCm39) missense possibly damaging 0.63
R0426:Plau UTSW 14 20,892,382 (GRCm39) missense probably benign 0.23
R2006:Plau UTSW 14 20,888,760 (GRCm39) splice site probably null
R2357:Plau UTSW 14 20,888,683 (GRCm39) missense probably damaging 1.00
R4089:Plau UTSW 14 20,891,134 (GRCm39) missense probably damaging 1.00
R4866:Plau UTSW 14 20,887,872 (GRCm39) missense probably benign 0.05
R6737:Plau UTSW 14 20,887,884 (GRCm39) missense probably damaging 0.98
R7167:Plau UTSW 14 20,889,518 (GRCm39) missense possibly damaging 0.90
R7615:Plau UTSW 14 20,889,534 (GRCm39) nonsense probably null
R7687:Plau UTSW 14 20,889,866 (GRCm39) missense probably damaging 1.00
R7775:Plau UTSW 14 20,892,393 (GRCm39) missense probably benign 0.16
R7824:Plau UTSW 14 20,892,393 (GRCm39) missense probably benign 0.16
R8200:Plau UTSW 14 20,889,181 (GRCm39) missense possibly damaging 0.53
R9007:Plau UTSW 14 20,889,613 (GRCm39) missense probably damaging 1.00
R9077:Plau UTSW 14 20,889,949 (GRCm39) missense probably benign 0.09
Z1176:Plau UTSW 14 20,889,549 (GRCm39) missense probably damaging 1.00
Z1177:Plau UTSW 14 20,891,082 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTTCGTCTGTAGACCAACAAGG -3'
(R):5'- TCACAAAGTCCGGTCACTCTC -3'

Sequencing Primer
(F):5'- TAGACCAACAAGGCTTCCAGTGTG -3'
(R):5'- AAAGTCCGGTCACTCTCTCCAC -3'
Posted On 2021-06-16