Incidental Mutation 'R4935:Plaur'
ID 380301
Institutional Source Beutler Lab
Gene Symbol Plaur
Ensembl Gene ENSMUSG00000046223
Gene Name plasminogen activator, urokinase receptor
Synonyms Cd87, urokinase-type plasminogen activator receptor, uPAR, u-PAR
MMRRC Submission 042535-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4935 (G1)
Quality Score 219
Status Not validated
Chromosome 7
Chromosomal Location 24161909-24175393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24166141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 71 (S71C)
Ref Sequence ENSEMBL: ENSMUSP00000145632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002284] [ENSMUST00000206514] [ENSMUST00000206935]
AlphaFold P35456
Predicted Effect probably benign
Transcript: ENSMUST00000002284
AA Change: S71C

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000002284
Gene: ENSMUSG00000046223
AA Change: S71C

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 114 1.9e-29 SMART
LU 117 206 2.36e-25 SMART
LU 213 308 1.17e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205877
Predicted Effect possibly damaging
Transcript: ENSMUST00000206514
AA Change: S71C

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206693
Predicted Effect probably benign
Transcript: ENSMUST00000206935
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 86.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele exhibit chronic inflammation, macrophage dysfunction, and reduced angiogenesis. Homozygotes for another null allele show neutrophil dysfunction, increased anxiety, loss of GABAergic neurons, myoclonus, and susceptibility to bacterial infection and PTZ -induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A G 11: 6,150,442 (GRCm39) *138W probably null Het
Abcb1a T A 5: 8,787,773 (GRCm39) probably null Het
Acp6 T C 3: 97,079,060 (GRCm39) probably null Het
Adcyap1 A T 17: 93,511,541 (GRCm39) I172L probably benign Het
Adgrf1 A C 17: 43,606,130 (GRCm39) I85L probably benign Het
Afdn A T 17: 14,111,228 (GRCm39) T1604S probably benign Het
Angpt2 T C 8: 18,742,131 (GRCm39) Y475C probably damaging Het
Ank2 A G 3: 126,749,713 (GRCm39) S439P probably damaging Het
Ank3 T A 10: 69,812,033 (GRCm39) N366K probably damaging Het
Ankrd11 A G 8: 123,626,922 (GRCm39) S87P probably benign Het
Ano7 T A 1: 93,323,036 (GRCm39) S459T possibly damaging Het
Asxl3 G A 18: 22,656,369 (GRCm39) V1460M probably benign Het
Atg16l1 A C 1: 87,694,764 (GRCm39) N147T possibly damaging Het
Atp10a T C 7: 58,463,512 (GRCm39) V1015A probably damaging Het
Atxn7 T A 14: 14,100,401 (GRCm38) S696T probably benign Het
Babam1 C T 8: 71,852,446 (GRCm39) T184I probably benign Het
Blk A G 14: 63,618,711 (GRCm39) S175P possibly damaging Het
Col5a1 T A 2: 27,914,754 (GRCm39) F123L probably damaging Het
Csmd3 T C 15: 48,024,480 (GRCm39) Y496C probably damaging Het
Dnah3 A T 7: 119,615,700 (GRCm39) Y1676* probably null Het
Fdxacb1 T A 9: 50,683,243 (GRCm39) M402K probably benign Het
Frmd5 A G 2: 121,393,405 (GRCm39) V141A possibly damaging Het
Gapvd1 G A 2: 34,594,504 (GRCm39) R685* probably null Het
Grik2 A G 10: 49,116,826 (GRCm39) L645P probably damaging Het
H2aj T A 6: 136,785,681 (GRCm39) V115E possibly damaging Het
Hrh3 T C 2: 179,743,061 (GRCm39) Y189C probably damaging Het
Kcnc2 A G 10: 112,108,133 (GRCm39) T175A probably benign Het
Kcnv2 A G 19: 27,300,332 (GRCm39) Y61C probably damaging Het
Kif24 T C 4: 41,394,939 (GRCm39) R645G probably damaging Het
Knl1 A G 2: 118,899,438 (GRCm39) I380V possibly damaging Het
Lamb2 A G 9: 108,364,700 (GRCm39) I1151M possibly damaging Het
Leo1 A G 9: 75,353,159 (GRCm39) D234G probably benign Het
Lrp1b T G 2: 41,388,405 (GRCm39) N407H probably benign Het
Matn2 T C 15: 34,428,831 (GRCm39) S732P probably damaging Het
Mrps30 A T 13: 118,523,431 (GRCm39) F114I possibly damaging Het
Or1l8 T C 2: 36,817,713 (GRCm39) N138D probably benign Het
Or4f17-ps1 G A 2: 111,357,793 (GRCm39) V45I probably damaging Het
Or5b123 T C 19: 13,597,066 (GRCm39) I180T probably benign Het
Oxr1 T C 15: 41,676,980 (GRCm39) V179A probably benign Het
Plbd2 T C 5: 120,624,786 (GRCm39) N461D possibly damaging Het
Plcb2 T A 2: 118,549,396 (GRCm39) Y322F probably damaging Het
Prkab2 T C 3: 97,569,671 (GRCm39) V79A probably damaging Het
Ptpn3 A T 4: 57,197,568 (GRCm39) C774S probably damaging Het
Ring1 A C 17: 34,242,016 (GRCm39) L131R probably benign Het
Rxfp2 G A 5: 149,975,097 (GRCm39) probably null Het
Selenbp1 A T 3: 94,845,269 (GRCm39) I122F probably benign Het
Septin7 A G 9: 25,217,468 (GRCm39) H394R probably benign Het
Slc1a7 G A 4: 107,864,758 (GRCm39) V266I probably damaging Het
Slc2a10 A G 2: 165,359,578 (GRCm39) T481A probably benign Het
Spmap2l T C 5: 77,185,200 (GRCm39) probably null Het
Tapbp A G 17: 34,144,596 (GRCm39) M231V probably benign Het
Tbxas1 A T 6: 38,999,981 (GRCm39) N256I probably benign Het
Uimc1 A G 13: 55,240,998 (GRCm39) I30T probably damaging Het
Usp48 C A 4: 137,377,669 (GRCm39) N231K probably benign Het
Zfhx3 T G 8: 109,674,482 (GRCm39) V1844G possibly damaging Het
Znrf3 A T 11: 5,233,422 (GRCm39) C212S probably damaging Het
Other mutations in Plaur
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1513:Plaur UTSW 7 24,172,016 (GRCm39) missense probably benign 0.00
R4229:Plaur UTSW 7 24,166,208 (GRCm39) missense probably damaging 0.99
R6199:Plaur UTSW 7 24,164,628 (GRCm39) missense possibly damaging 0.91
R6254:Plaur UTSW 7 24,166,225 (GRCm39) missense possibly damaging 0.95
R7699:Plaur UTSW 7 24,173,692 (GRCm39) missense possibly damaging 0.56
R8984:Plaur UTSW 7 24,164,577 (GRCm39) missense probably benign 0.07
X0020:Plaur UTSW 7 24,172,134 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCCTGAAAATCCACGTGACG -3'
(R):5'- ACTGGGGTAATGCAGGTCTG -3'

Sequencing Primer
(F):5'- TTCTAGAAGATAACAGAGTGGGCTC -3'
(R):5'- TAATGCAGGTCTGGGGATAGAATTG -3'
Posted On 2016-04-15