Incidental Mutation 'R6306:Plat'
ID 509662
Institutional Source Beutler Lab
Gene Symbol Plat
Ensembl Gene ENSMUSG00000031538
Gene Name plasminogen activator, tissue
Synonyms D8Ertd2e, tPA, t-PA
MMRRC Submission 044468-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6306 (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 23262282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 102 (D102G)
Ref Sequence ENSEMBL: ENSMUSP00000033941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033941]
AlphaFold P11214
Predicted Effect possibly damaging
Transcript: ENSMUST00000033941
AA Change: D102G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033941
Gene: ENSMUSG00000031538
AA Change: D102G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210960
Meta Mutation Damage Score 0.0894 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (88/88)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G A 9: 90,060,331 (GRCm39) probably null Het
Adora2a T A 10: 75,169,238 (GRCm39) V234E probably damaging Het
Alpk1 T C 3: 127,479,965 (GRCm39) D188G probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Ankrd17 A G 5: 90,392,013 (GRCm39) F1886L probably benign Het
Anks1 T G 17: 28,269,613 (GRCm39) L769R probably damaging Het
Apol10a A G 15: 77,373,161 (GRCm39) I266V probably benign Het
Arhgef28 T C 13: 98,121,896 (GRCm39) Y556C probably damaging Het
Brd8 T A 18: 34,744,304 (GRCm39) T175S probably damaging Het
Camsap2 C T 1: 136,208,937 (GRCm39) V852I probably benign Het
Cd55b G T 1: 130,341,803 (GRCm39) P278Q probably damaging Het
Cep290 T A 10: 100,367,028 (GRCm39) S1126R possibly damaging Het
Cfh C T 1: 140,030,155 (GRCm39) C906Y probably damaging Het
Chst13 C A 6: 90,286,260 (GRCm39) R234L probably damaging Het
Clcn7 T C 17: 25,376,502 (GRCm39) F611L probably benign Het
Cntnap1 A G 11: 101,075,441 (GRCm39) D873G probably damaging Het
Cntnap5b T C 1: 100,091,871 (GRCm39) I518T probably damaging Het
Col28a1 T C 6: 8,014,969 (GRCm39) E812G probably damaging Het
Cpa1 T C 6: 30,640,953 (GRCm39) I148T probably damaging Het
Cyp11a1 A G 9: 57,932,383 (GRCm39) N232S probably benign Het
Dhrs13 A G 11: 77,923,519 (GRCm39) D79G probably damaging Het
Disp1 T C 1: 182,868,712 (GRCm39) E1236G possibly damaging Het
Dnah1 A C 14: 31,026,544 (GRCm39) L778R probably damaging Het
Dnah14 CTGTG CTG 1: 181,412,589 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dock9 A T 14: 121,799,492 (GRCm39) I1729N probably damaging Het
Dysf T C 6: 84,114,248 (GRCm39) V1192A possibly damaging Het
Enpp2 A G 15: 54,762,742 (GRCm39) S169P probably damaging Het
Fam114a2 T G 11: 57,404,972 (GRCm39) R43S probably damaging Het
Fam13a T C 6: 58,917,239 (GRCm39) T546A probably benign Het
Fos A T 12: 85,522,460 (GRCm39) D163V probably damaging Het
Fras1 T C 5: 96,912,805 (GRCm39) Y3370H probably damaging Het
Fshr T C 17: 89,507,961 (GRCm39) N27S probably null Het
Galnt6 A G 15: 100,591,305 (GRCm39) S600P possibly damaging Het
Gars1 T A 6: 55,032,809 (GRCm39) N260K probably damaging Het
Gpr158 C G 2: 21,820,422 (GRCm39) P640A possibly damaging Het
Grep1 T C 17: 23,925,124 (GRCm39) N495S possibly damaging Het
Grik3 A G 4: 125,526,205 (GRCm39) D146G probably benign Het
Hdac4 T C 1: 91,923,896 (GRCm39) T205A probably benign Het
Kcnq3 T C 15: 65,876,643 (GRCm39) D500G probably benign Het
Kmt5c A G 7: 4,749,480 (GRCm39) K333E probably benign Het
Krt81 A G 15: 101,357,404 (GRCm39) S443P probably benign Het
M6pr T C 6: 122,292,121 (GRCm39) probably null Het
Mccc2 T A 13: 100,130,085 (GRCm39) I91L probably benign Het
Nip7 A G 8: 107,785,055 (GRCm39) D110G probably damaging Het
Nol8 T A 13: 49,829,829 (GRCm39) F1093I probably damaging Het
Nrxn1 T C 17: 90,872,874 (GRCm39) T1027A possibly damaging Het
Ofcc1 T A 13: 40,302,052 (GRCm39) M495L probably benign Het
Or13p10 A T 4: 118,523,490 (GRCm39) M259L probably benign Het
Or7e178 A G 9: 20,225,742 (GRCm39) M158T probably benign Het
Pafah1b2 A T 9: 45,886,425 (GRCm39) V81D probably damaging Het
Pcdhga4 A T 18: 37,818,966 (GRCm39) S172C probably damaging Het
Pds5a A G 5: 65,813,639 (GRCm39) V282A probably damaging Het
Plce1 C A 19: 38,757,909 (GRCm39) Q1961K probably damaging Het
Plppr3 T A 10: 79,697,566 (GRCm39) K444* probably null Het
Plscr3 A G 11: 69,738,472 (GRCm39) probably null Het
Prtg A T 9: 72,813,468 (GRCm39) T943S probably benign Het
Racgap1 A G 15: 99,521,834 (GRCm39) F519L probably benign Het
Rbms2 A T 10: 127,987,050 (GRCm39) probably null Het
Rfx7 A G 9: 72,524,237 (GRCm39) T476A possibly damaging Het
Rnf150 T A 8: 83,810,131 (GRCm39) L421Q possibly damaging Het
Sema3b A G 9: 107,478,119 (GRCm39) L422P possibly damaging Het
Shank2 G A 7: 143,963,417 (GRCm39) A921T probably benign Het
Skint3 A T 4: 112,113,072 (GRCm39) E227D probably damaging Het
Slc25a19 G A 11: 115,508,386 (GRCm39) R201C possibly damaging Het
Slc38a10 G T 11: 120,038,645 (GRCm39) A40D probably damaging Het
Slc5a4b T C 10: 75,917,185 (GRCm39) T284A probably benign Het
Smc1b A T 15: 85,011,824 (GRCm39) F154I probably benign Het
Spry2 A T 14: 106,130,418 (GRCm39) M256K possibly damaging Het
Stkld1 C T 2: 26,833,899 (GRCm39) P129S probably damaging Het
Syce2 T C 8: 85,599,371 (GRCm39) L13S possibly damaging Het
Tbc1d15 C A 10: 115,069,148 (GRCm39) V74L possibly damaging Het
Tecpr2 T A 12: 110,911,185 (GRCm39) V1074D probably damaging Het
Tex36 G A 7: 133,197,054 (GRCm39) T21I probably benign Het
Ttn T G 2: 76,554,454 (GRCm39) D30787A probably damaging Het
Ttn T A 2: 76,622,264 (GRCm39) Q13710L probably benign Het
Usp34 T C 11: 23,362,260 (GRCm39) F1569L possibly damaging Het
Vat1l C T 8: 115,098,391 (GRCm39) A387V probably damaging Het
Vil1 G A 1: 74,460,470 (GRCm39) G209D possibly damaging Het
Vmn1r113 G T 7: 20,521,792 (GRCm39) D195Y probably damaging Het
Vmn2r69 A C 7: 85,064,799 (GRCm39) I29R probably benign Het
Vti1b G A 12: 79,207,323 (GRCm39) Q76* probably null Het
Zfp423 C A 8: 88,508,662 (GRCm39) V540F possibly damaging Het
Zfp644 T C 5: 106,785,990 (GRCm39) N186D probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp787 G A 7: 6,135,360 (GRCm39) A297V probably damaging Het
Zfp827 G T 8: 79,787,324 (GRCm39) Q163H probably damaging Het
Zfp955b T A 17: 33,522,160 (GRCm39) V543E probably benign 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
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
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'- ATACTTTCCATGCTTCGCGG -3'
(R):5'- AGTCTCTAAATGACCTCAGCTCC -3'

Sequencing Primer
(F):5'- CATGCTTCGCGGTTGACAG -3'
(R):5'- AGCTCCCCTTCTGTGGG -3'
Posted On 2018-04-02