Incidental Mutation 'R9140:Plat'
ID 694291
Institutional Source Beutler Lab
Gene Symbol Plat
Ensembl Gene ENSMUSG00000031538
Gene Name plasminogen activator, tissue
Synonyms D8Ertd2e, tPA, t-PA
MMRRC Submission 068972-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9140 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 23247743-23272860 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23270562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 493 (D493G)
Ref Sequence ENSEMBL: ENSMUSP00000033941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033941]
AlphaFold P11214
Predicted Effect probably damaging
Transcript: ENSMUST00000033941
AA Change: D493G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033941
Gene: ENSMUSG00000031538
AA Change: D493G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
FN1 38 80 5.69e-15 SMART
EGF 82 117 4.92e-5 SMART
KR 122 207 3.77e-33 SMART
KR 211 296 4.39e-34 SMART
Tryp_SPc 308 553 6.59e-84 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (69/69)
MGI Phenotype FUNCTION: This gene encodes a key enzyme of the fibrinolytic pathway. The encoded protein undergoes proteolytic processing by plasmin to generate a heterodimeric serine protease that cleaves the proenzyme plasminogen to produce plasmin, a protease that is required to break down fibrin clots. Additionally, the encoded protein is involved in other biological processes such as synaptic plasticity, cell migration and tissue remodeling. Mice lacking the encoded protein display a reduction in long-term potentiation in hippocampus and conversely, transgenic mice overexpressing the encoded protein have increased and prolonged long-term potentiation. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal behavior, CNS synpatic transmission, and response to injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A T 17: 33,652,170 (GRCm39) I77F possibly damaging Het
Adgb G A 10: 10,216,263 (GRCm39) R1509* probably null Het
Ago1 C A 4: 126,336,977 (GRCm39) V547L probably benign Het
Arhgap21 T A 2: 20,886,025 (GRCm39) Y394F probably damaging Het
C1qa A C 4: 136,623,553 (GRCm39) I217S probably damaging Het
Cacna1b T A 2: 24,525,224 (GRCm39) I1651F probably damaging Het
Car8 T C 4: 8,183,270 (GRCm39) T242A probably benign Het
Ccdc121rt3 A T 5: 112,502,723 (GRCm39) L327Q probably damaging Het
Ccn4 G A 15: 66,791,157 (GRCm39) V320M probably damaging Het
Chrnb4 G A 9: 54,941,955 (GRCm39) H440Y Het
Cic T C 7: 24,985,165 (GRCm39) V1137A probably damaging Het
Ctdp1 C T 18: 80,484,043 (GRCm39) probably null Het
Cyp3a16 G C 5: 145,406,434 (GRCm39) A6G unknown Het
Ddhd1 A C 14: 45,894,918 (GRCm39) L184R probably benign Het
Dnttip1 A G 2: 164,596,082 (GRCm39) D109G possibly damaging Het
Dsc3 T A 18: 20,122,616 (GRCm39) M103L probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Elapor2 T C 5: 9,449,226 (GRCm39) V118A probably benign Het
Eya2 T C 2: 165,608,977 (GRCm39) L439S probably damaging Het
Eya3 A G 4: 132,428,411 (GRCm39) N311S possibly damaging Het
Fam151a C T 4: 106,605,344 (GRCm39) R569* probably null Het
Fer1l5 A G 1: 36,460,047 (GRCm39) probably benign Het
Fnbp4 A G 2: 90,576,077 (GRCm39) T93A unknown Het
Fosl2 T C 5: 32,310,042 (GRCm39) S164P probably damaging Het
Galc T C 12: 98,173,673 (GRCm39) T630A probably null Het
Gm5916 G T 9: 36,031,982 (GRCm39) Q101K unknown Het
Gm7138 A T 10: 77,612,682 (GRCm39) probably benign Het
Habp2 A G 19: 56,307,934 (GRCm39) K474R probably benign Het
Ibtk A G 9: 85,617,114 (GRCm39) F153L probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Kirrel3 C T 9: 34,924,596 (GRCm39) A268V probably benign Het
Kprp G T 3: 92,732,458 (GRCm39) Y197* probably null Het
Kri1 C T 9: 21,187,434 (GRCm39) R471H Het
Krt17 C A 11: 100,148,476 (GRCm39) A322S possibly damaging Het
Leng9 A T 7: 4,152,657 (GRCm39) D6E probably benign Het
Macf1 A T 4: 123,367,855 (GRCm39) I2302K possibly damaging Het
Manba G A 3: 135,191,490 (GRCm39) V17M probably benign Het
Mical2 A G 7: 112,006,826 (GRCm39) K582E probably damaging Het
Mknk2 A G 10: 80,507,427 (GRCm39) V102A probably benign Het
Myh1 G A 11: 67,100,089 (GRCm39) G636D probably benign Het
Or51q1c A G 7: 103,653,322 (GRCm39) N280S probably damaging Het
P2rx7 G A 5: 122,790,789 (GRCm39) probably null Het
Pcmt1 A G 10: 7,514,678 (GRCm39) *177R probably null Het
Pla2r1 T C 2: 60,271,455 (GRCm39) K959R probably benign Het
Prr30 A G 14: 101,436,430 (GRCm39) L44P probably benign Het
Ptx4 T C 17: 25,344,180 (GRCm39) C477R probably damaging Het
Pus10 A G 11: 23,622,625 (GRCm39) S82G probably benign Het
Pygo1 A G 9: 72,852,988 (GRCm39) T392A probably benign Het
Rad54b C A 4: 11,610,386 (GRCm39) L668I probably damaging Het
Rdh19 A C 10: 127,692,830 (GRCm39) M166L Het
Retnlg C A 16: 48,693,288 (GRCm39) Q22K possibly damaging Het
Rfc3 G T 5: 151,568,141 (GRCm39) T249K probably benign Het
Rgs16 T A 1: 153,619,381 (GRCm39) V129E probably damaging Het
Rptn T A 3: 93,303,445 (GRCm39) Y259* probably null Het
Sema6a T C 18: 47,415,009 (GRCm39) N427S probably benign Het
Slc7a13 T C 4: 19,819,487 (GRCm39) I229T possibly damaging Het
Slitrk3 A T 3: 72,957,792 (GRCm39) Y327N probably benign Het
Smtnl2 A G 11: 72,290,793 (GRCm39) L384P probably damaging Het
Stil G T 4: 114,864,449 (GRCm39) V117F probably damaging Het
Tada1 T C 1: 166,216,177 (GRCm39) V126A probably benign Het
Tasor2 G A 13: 3,638,441 (GRCm39) T430I probably benign Het
Tmem30c T C 16: 57,090,482 (GRCm39) I242V probably damaging Het
Tnnt2 T A 1: 135,768,635 (GRCm39) V8E Het
Ttn A G 2: 76,774,240 (GRCm39) V2268A unknown Het
Uspl1 G T 5: 149,150,290 (GRCm39) A497S possibly damaging Het
Vmn2r1 A T 3: 63,997,465 (GRCm39) N374Y probably benign Het
Vmn2r27 A G 6: 124,169,207 (GRCm39) F641S probably damaging Het
Vmn2r52 T A 7: 9,892,643 (GRCm39) Y832F probably damaging Het
Zfp748 C T 13: 67,689,073 (GRCm39) C729Y probably damaging Het
Other mutations in Plat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Plat APN 8 23,266,844 (GRCm39) missense probably benign 0.00
IGL01918:Plat APN 8 23,270,453 (GRCm39) missense possibly damaging 0.82
IGL01998:Plat APN 8 23,257,163 (GRCm39) missense probably benign 0.31
IGL02978:Plat APN 8 23,266,835 (GRCm39) missense probably damaging 1.00
R0829:Plat UTSW 8 23,262,273 (GRCm39) missense probably damaging 1.00
R1065:Plat UTSW 8 23,266,879 (GRCm39) missense probably damaging 0.99
R2316:Plat UTSW 8 23,266,881 (GRCm39) missense probably benign 0.04
R4485:Plat UTSW 8 23,262,228 (GRCm39) missense probably benign 0.01
R4873:Plat UTSW 8 23,258,466 (GRCm39) missense probably benign 0.03
R4875:Plat UTSW 8 23,258,466 (GRCm39) missense probably benign 0.03
R4924:Plat UTSW 8 23,268,269 (GRCm39) missense probably damaging 1.00
R5051:Plat UTSW 8 23,263,688 (GRCm39) missense probably benign 0.01
R5062:Plat UTSW 8 23,262,327 (GRCm39) missense probably benign 0.19
R5402:Plat UTSW 8 23,262,738 (GRCm39) missense probably damaging 1.00
R5672:Plat UTSW 8 23,263,664 (GRCm39) missense probably benign 0.40
R6306:Plat UTSW 8 23,262,282 (GRCm39) missense possibly damaging 0.83
R7035:Plat UTSW 8 23,262,327 (GRCm39) missense probably benign 0.32
R7154:Plat UTSW 8 23,268,521 (GRCm39) missense possibly damaging 0.76
R7297:Plat UTSW 8 23,265,713 (GRCm39) missense probably benign 0.12
R7432:Plat UTSW 8 23,263,667 (GRCm39) missense probably damaging 0.99
R7514:Plat UTSW 8 23,265,658 (GRCm39) missense probably damaging 1.00
R7679:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R7680:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R7742:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R7834:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R7885:Plat UTSW 8 23,261,736 (GRCm39) missense probably benign 0.00
R7918:Plat UTSW 8 23,263,655 (GRCm39) missense probably damaging 1.00
R8039:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8040:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8243:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8347:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8355:Plat UTSW 8 23,261,758 (GRCm39) nonsense probably null
R8422:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8423:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8424:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8426:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8427:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8485:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8507:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8510:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8714:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8716:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R8717:Plat UTSW 8 23,262,248 (GRCm39) missense probably damaging 1.00
R9148:Plat UTSW 8 23,268,466 (GRCm39) missense probably damaging 0.99
R9289:Plat UTSW 8 23,272,100 (GRCm39) missense probably damaging 1.00
R9328:Plat UTSW 8 23,268,133 (GRCm39) missense probably damaging 1.00
R9378:Plat UTSW 8 23,265,599 (GRCm39) missense probably damaging 1.00
R9557:Plat UTSW 8 23,262,669 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTTAGCTTTGACCAGGAAGC -3'
(R):5'- GAAAACTTCCTGCCATTCAGATTTC -3'

Sequencing Primer
(F):5'- CTTTGACCAGGAAGCTTGGC -3'
(R):5'- GCCATTCAGATTTCTTAGATTTGAGG -3'
Posted On 2022-01-20