Incidental Mutation 'R8040:Plat'
ID 618470
Institutional Source Beutler Lab
Gene Symbol Plat
Ensembl Gene ENSMUSG00000031538
Gene Name plasminogen activator, tissue
Synonyms D8Ertd2e, tPA, t-PA
MMRRC Submission 067477-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8040 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 23247743-23272860 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 23262248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 91 (G91W)
Ref Sequence ENSEMBL: ENSMUSP00000033941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033941]
AlphaFold P11214
Predicted Effect probably damaging
Transcript: ENSMUST00000033941
AA Change: G91W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033941
Gene: ENSMUSG00000031538
AA Change: G91W

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
Meta Mutation Damage Score 0.8810 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (47/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,765,035 (GRCm39) D675V probably benign Het
Adam21 T C 12: 81,607,211 (GRCm39) R184G probably benign Het
Adcy10 A G 1: 165,379,593 (GRCm39) K952E probably damaging Het
Allc A T 12: 28,605,351 (GRCm39) I316N probably damaging Het
Ano8 T C 8: 71,934,812 (GRCm39) T432A probably benign Het
Cadps2 C A 6: 23,412,942 (GRCm39) probably benign Het
Camsap2 T C 1: 136,208,985 (GRCm39) S168G Het
Ccl19 T C 4: 42,756,297 (GRCm39) S12G probably damaging Het
Cfap91 A G 16: 38,140,733 (GRCm39) S407P possibly damaging Het
Cltc A G 11: 86,616,031 (GRCm39) S412P probably damaging Het
Cwc25 A G 11: 97,641,696 (GRCm39) probably null Het
Cxcr4 A G 1: 128,517,535 (GRCm39) F42S probably damaging Het
Cyp4a12a A G 4: 115,183,412 (GRCm39) Q177R probably benign Het
Dnal4 T C 15: 79,646,169 (GRCm39) T112A probably benign Het
Dock9 C A 14: 121,889,206 (GRCm39) G304C probably benign Het
Evpl T C 11: 116,113,758 (GRCm39) T1311A probably damaging Het
Fat4 T C 3: 39,035,815 (GRCm39) Y3156H probably damaging Het
Golgb1 A G 16: 36,733,841 (GRCm39) I1070M possibly damaging Het
Hcls1 A G 16: 36,771,511 (GRCm39) D139G probably damaging Het
Ighv1-7 A G 12: 114,502,390 (GRCm39) S26P probably benign Het
Il1r1 A T 1: 40,352,509 (GRCm39) T563S probably benign Het
Kcna1 C T 6: 126,619,703 (GRCm39) D206N probably benign Het
Kcnk4 A G 19: 6,904,995 (GRCm39) Y219H probably damaging Het
Kcnt2 G A 1: 140,377,955 (GRCm39) A403T probably damaging Het
Mdp1 T A 14: 55,897,523 (GRCm39) N44I probably benign Het
Nceh1 A G 3: 27,295,374 (GRCm39) N212D probably benign Het
Nynrin G A 14: 56,108,982 (GRCm39) G1363D probably benign Het
Or5d20-ps1 T A 2: 87,931,703 (GRCm39) R209S unknown Het
Or6n1 T C 1: 173,916,723 (GRCm39) I39T possibly damaging Het
Or6x1 A G 9: 40,098,717 (GRCm39) H102R probably damaging Het
Or8d1 T A 9: 38,766,460 (GRCm39) I34N probably damaging Het
Parp2 T A 14: 51,047,630 (GRCm39) M47K probably benign Het
Pfdn6 T C 17: 34,158,951 (GRCm39) probably benign Het
Plb1 T A 5: 32,430,413 (GRCm39) H123Q possibly damaging Het
Pml C A 9: 58,141,968 (GRCm39) R288L probably benign Het
Prodh2 A G 7: 30,205,836 (GRCm39) D238G probably damaging Het
Rad51ap2 T A 12: 11,508,792 (GRCm39) S905T probably benign Het
Sclt1 C T 3: 41,611,811 (GRCm39) R487H probably damaging Het
Serpina3b A G 12: 104,097,335 (GRCm39) I205M probably benign Het
Sowahb A G 5: 93,191,292 (GRCm39) S476P possibly damaging Het
Srgap3 C T 6: 112,716,325 (GRCm39) R625H probably benign Het
Tent4a A G 13: 69,648,600 (GRCm39) Y719H probably damaging Het
Tnxb T C 17: 34,935,532 (GRCm39) Y2611H probably damaging Het
Uggt1 T C 1: 36,250,554 (GRCm39) E237G possibly damaging Het
Vmn1r87 T A 7: 12,866,086 (GRCm39) Y67F possibly damaging Het
Vmn2r107 G A 17: 20,595,808 (GRCm39) C787Y probably damaging Het
Zscan4-ps3 T A 7: 11,346,600 (GRCm39) I212N 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
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
R9140:Plat UTSW 8 23,270,562 (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'- TTCCATGCTTCGCGGTTGAC -3'
(R):5'- GTCAAGTCTCTAAATGACCTCAGC -3'

Sequencing Primer
(F):5'- CTTCGCGGTTGACAGGGG -3'
(R):5'- AGCTCCCCTTCTGTGGG -3'
Posted On 2020-01-23