Incidental Mutation 'IGL01831:Plau'
ID 154791
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01831
Quality Score
Status
Chromosome 14
Chromosomal Location 20886728-20893453 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 20887838 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
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,903,187 (GRCm39) D596Y probably damaging Het
Atr A G 9: 95,752,807 (GRCm39) R626G probably benign Het
Edem3 T C 1: 151,671,833 (GRCm39) F394S probably damaging Het
Galk2 C A 2: 125,817,277 (GRCm39) N344K probably benign Het
Gm20507 T C 17: 33,861,038 (GRCm39) probably benign Het
Igkv2-112 A T 6: 68,197,481 (GRCm39) Y50F possibly damaging Het
Itgb1bp1 A T 12: 21,329,469 (GRCm39) F2I unknown Het
Klhl6 C T 16: 19,772,235 (GRCm39) C370Y probably damaging Het
Or56b1 T G 7: 104,285,267 (GRCm39) Y129D probably damaging Het
Or6c70 T C 10: 129,709,900 (GRCm39) H242R probably damaging Het
Pja2 A T 17: 64,616,402 (GRCm39) H164Q probably benign Het
Snx4 C T 16: 33,104,792 (GRCm39) R247* probably null Het
Other mutations in Plau
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Plau APN 14 20,888,635 (GRCm39) missense probably benign 0.05
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
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
Posted On 2014-02-04