Incidental Mutation 'R7687:Plau'
ID593172
Institutional Source Beutler Lab
Gene Symbol Plau
Ensembl Gene ENSMUSG00000021822
Gene Nameplasminogen activator, urokinase
Synonymsurokinase-type plasminogen activator, uPA, u-PA
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7687 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location20836660-20843385 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20839798 bp
ZygosityHeterozygous
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]
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: 71,258,182 K2383R probably benign Het
Acly C T 11: 100,504,854 probably null Het
Baiap3 T A 17: 25,249,337 I276F possibly damaging Het
Cdc14b A T 13: 64,209,193 D419E probably benign Het
Celsr2 G T 3: 108,397,769 P2165T probably benign Het
Clk4 A G 11: 51,281,398 D476G probably benign Het
Dera A G 6: 137,836,880 T10A Het
Dip2c A T 13: 9,604,581 T742S probably benign Het
Dohh C A 10: 81,387,806 A231E probably benign Het
Dot1l T G 10: 80,789,368 S1150A possibly damaging Het
Eea1 T A 10: 96,026,598 I794N probably benign Het
En2 T C 5: 28,170,289 S277P probably damaging Het
Erich1 A G 8: 14,030,691 L276P probably damaging Het
Flnb A G 14: 7,924,224 N1779S probably damaging Het
Frzb T A 2: 80,424,635 T186S probably benign Het
Gdf7 T A 12: 8,298,257 R347* probably null Het
Ighv9-4 T C 12: 114,300,263 I17V not run Het
Ipo13 G A 4: 117,911,891 P235S probably benign Het
Itga2 C A 13: 114,866,260 G565C probably damaging Het
Kcnc4 CCCGCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGCCGCCGCCGC 3: 107,458,609 probably benign Het
Kcnk10 A G 12: 98,435,096 I440T probably damaging Het
Kdm3a T A 6: 71,599,492 K779N possibly damaging Het
Kmt2d C T 15: 98,862,120 D1086N unknown Het
Kntc1 A G 5: 123,759,089 I172V probably benign Het
Maip1 A G 1: 57,411,844 E215G probably damaging Het
Mms19 A T 19: 41,955,168 M417K possibly damaging Het
Mslnl T C 17: 25,743,183 V185A probably damaging Het
Naa11 A T 5: 97,391,789 V170E probably benign Het
Ncapg C T 5: 45,699,885 P980S probably benign Het
Olfr170 T C 16: 19,605,735 N310S probably benign Het
Pbxip1 A G 3: 89,448,199 D675G probably damaging Het
Pdlim5 A G 3: 142,277,847 S382P probably benign Het
Pkd1l1 T A 11: 8,854,390 I2184F Het
Ppl T C 16: 5,097,942 T586A probably benign Het
Rapgef6 T G 11: 54,661,075 I923S possibly damaging Het
Rbfox2 C T 15: 77,306,494 G17D unknown Het
Sema3b T C 9: 107,603,814 D108G probably damaging Het
Slc6a20a A G 9: 123,656,266 I297T probably damaging Het
Slit1 A G 19: 41,650,689 F261L probably benign Het
Tcp10a T A 17: 7,345,108 V433D probably damaging Het
Tktl2 A G 8: 66,513,101 E437G probably damaging Het
Tll1 G T 8: 64,121,492 Y109* probably null Het
Tmem79 A G 3: 88,332,581 V274A probably damaging Het
Tnfrsf23 G A 7: 143,681,462 S55L probably benign Het
Ubd T C 17: 37,193,974 probably null Het
Ubl3 C A 5: 148,506,175 R105L possibly damaging Het
Ubl7 A T 9: 57,914,584 D72V probably damaging Het
Wdr55 T C 18: 36,762,023 S81P probably damaging Het
Wtip T C 7: 34,116,619 Y344C probably damaging Het
Zfp488 A G 14: 33,970,400 S269P possibly damaging Het
Zkscan2 A C 7: 123,499,862 S36A probably benign Het
Other mutations in Plau
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Plau APN 14 20838567 missense probably benign 0.05
IGL01831:Plau APN 14 20837770 splice site probably benign
IGL02902:Plau APN 14 20839897 missense possibly damaging 0.63
R0426:Plau UTSW 14 20842314 missense probably benign 0.23
R2006:Plau UTSW 14 20838692 splice site probably null
R2357:Plau UTSW 14 20838615 missense probably damaging 1.00
R4089:Plau UTSW 14 20841066 missense probably damaging 1.00
R4866:Plau UTSW 14 20837804 missense probably benign 0.05
R6737:Plau UTSW 14 20837816 missense probably damaging 0.98
R7167:Plau UTSW 14 20839450 missense possibly damaging 0.90
R7615:Plau UTSW 14 20839466 nonsense probably null
R7775:Plau UTSW 14 20842325 missense probably benign 0.16
R7824:Plau UTSW 14 20842325 missense probably benign 0.16
R8200:Plau UTSW 14 20839113 missense possibly damaging 0.53
Z1176:Plau UTSW 14 20839481 missense probably damaging 1.00
Z1177:Plau UTSW 14 20841014 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 On2019-11-12