Incidental Mutation 'R7687:Plau'
ID 593172
Institutional Source Beutler Lab
Gene Symbol Plau
Ensembl Gene ENSMUSG00000021822
Gene Name plasminogen activator, urokinase
Synonyms u-PA, uPA, urokinase-type plasminogen activator
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7687 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 20886728-20893453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20889866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 237 (Y237C)
Ref Sequence ENSEMBL: ENSMUSP00000022368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022368] [ENSMUST00000224141]
AlphaFold P06869
PDB Structure Structure-based engineering of species selectivity in the uPA-uPAR interaction [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000022368
AA Change: Y237C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022368
Gene: ENSMUSG00000021822
AA Change: Y237C

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: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,341 (GRCm39) K2383R probably benign Het
Acly C T 11: 100,395,680 (GRCm39) probably null Het
Baiap3 T A 17: 25,468,311 (GRCm39) I276F possibly damaging Het
Cdc14b A T 13: 64,357,007 (GRCm39) D419E probably benign Het
Celsr2 G T 3: 108,305,085 (GRCm39) P2165T probably benign Het
Clk4 A G 11: 51,172,225 (GRCm39) D476G probably benign Het
Dera A G 6: 137,813,878 (GRCm39) T10A Het
Dip2c A T 13: 9,654,617 (GRCm39) T742S probably benign Het
Dohh C A 10: 81,223,640 (GRCm39) A231E probably benign Het
Dot1l T G 10: 80,625,202 (GRCm39) S1150A possibly damaging Het
Eea1 T A 10: 95,862,460 (GRCm39) I794N probably benign Het
En2 T C 5: 28,375,287 (GRCm39) S277P probably damaging Het
Erich1 A G 8: 14,080,691 (GRCm39) L276P probably damaging Het
Flnb A G 14: 7,924,224 (GRCm38) N1779S probably damaging Het
Frzb T A 2: 80,254,979 (GRCm39) T186S probably benign Het
Gdf7 T A 12: 8,348,257 (GRCm39) R347* probably null Het
Ighv9-4 T C 12: 114,263,883 (GRCm39) I17V not run Het
Ipo13 G A 4: 117,769,088 (GRCm39) P235S probably benign Het
Itga2 C A 13: 115,002,796 (GRCm39) G565C probably damaging Het
Kcnc4 CCCGCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGCCGCCGCCGC 3: 107,365,925 (GRCm39) probably benign Het
Kcnk10 A G 12: 98,401,355 (GRCm39) I440T probably damaging Het
Kdm3a T A 6: 71,576,476 (GRCm39) K779N possibly damaging Het
Kmt2d C T 15: 98,760,001 (GRCm39) D1086N unknown Het
Kntc1 A G 5: 123,897,152 (GRCm39) I172V probably benign Het
Maip1 A G 1: 57,451,003 (GRCm39) E215G probably damaging Het
Mms19 A T 19: 41,943,607 (GRCm39) M417K possibly damaging Het
Mslnl T C 17: 25,962,157 (GRCm39) V185A probably damaging Het
Naa11 A T 5: 97,539,648 (GRCm39) V170E probably benign Het
Ncapg C T 5: 45,857,227 (GRCm39) P980S probably benign Het
Or2aj5 T C 16: 19,424,485 (GRCm39) N310S probably benign Het
Pbxip1 A G 3: 89,355,506 (GRCm39) D675G probably damaging Het
Pdlim5 A G 3: 141,983,608 (GRCm39) S382P probably benign Het
Pkd1l1 T A 11: 8,804,390 (GRCm39) I2184F Het
Ppl T C 16: 4,915,806 (GRCm39) T586A probably benign Het
Rapgef6 T G 11: 54,551,901 (GRCm39) I923S possibly damaging Het
Rbfox2 C T 15: 77,190,694 (GRCm39) G17D unknown Het
Sema3b T C 9: 107,481,013 (GRCm39) D108G probably damaging Het
Slc6a20a A G 9: 123,485,331 (GRCm39) I297T probably damaging Het
Slit1 A G 19: 41,639,128 (GRCm39) F261L probably benign Het
Tcp10a T A 17: 7,612,507 (GRCm39) V433D probably damaging Het
Tktl2 A G 8: 66,965,753 (GRCm39) E437G probably damaging Het
Tll1 G T 8: 64,574,526 (GRCm39) Y109* probably null Het
Tmem79 A G 3: 88,239,888 (GRCm39) V274A probably damaging Het
Tnfrsf23 G A 7: 143,235,199 (GRCm39) S55L probably benign Het
Ubd T C 17: 37,504,865 (GRCm39) probably null Het
Ubl3 C A 5: 148,442,985 (GRCm39) R105L possibly damaging Het
Ubl7 A T 9: 57,821,867 (GRCm39) D72V probably damaging Het
Wdr55 T C 18: 36,895,076 (GRCm39) S81P probably damaging Het
Wtip T C 7: 33,816,044 (GRCm39) Y344C probably damaging Het
Zfp488 A G 14: 33,692,357 (GRCm39) S269P possibly damaging Het
Zkscan2 A C 7: 123,099,085 (GRCm39) S36A probably benign 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
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
R8685:Plau UTSW 14 20,889,627 (GRCm39) splice site probably benign
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'- ACACTGCTTCATGTACGTCC -3'
(R):5'- TAAATCCCGGGCTTCAAGTCC -3'

Sequencing Primer
(F):5'- AACCCCAAGACTGTCCTTCCTC -3'
(R):5'- CCCCCACATTTCCCACCACTAC -3'
Posted On 2019-11-12