Incidental Mutation 'R4924:Plat'
ID 378867
Institutional Source Beutler Lab
Gene Symbol Plat
Ensembl Gene ENSMUSG00000031538
Gene Name plasminogen activator, tissue
Synonyms D8Ertd2e, tPA, t-PA
MMRRC Submission 042526-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4924 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 23247743-23272860 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23268269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 345 (I345N)
Ref Sequence ENSEMBL: ENSMUSP00000033941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033941]
AlphaFold P11214
Predicted Effect probably damaging
Transcript: ENSMUST00000033941
AA Change: I345N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033941
Gene: ENSMUSG00000031538
AA Change: I345N

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G A 11: 119,902,351 (GRCm39) H625Y probably damaging Het
Adamts4 C T 1: 171,086,643 (GRCm39) R812W probably damaging Het
Ajuba A C 14: 54,809,056 (GRCm39) probably null Het
Aox1 T A 1: 58,344,503 (GRCm39) V532D probably damaging Het
Arpc1b G A 5: 145,063,625 (GRCm39) S295N probably benign Het
Baiap2 A G 11: 119,887,850 (GRCm39) S335G probably damaging Het
Brap T G 5: 121,803,318 (GRCm39) N155K probably damaging Het
Btn1a1 A G 13: 23,648,396 (GRCm39) probably benign Het
Ccl12 G A 11: 81,993,475 (GRCm39) V38I probably benign Het
Cemip T C 7: 83,602,146 (GRCm39) Y881C probably damaging Het
Cep128 T C 12: 90,989,174 (GRCm39) silent Het
Chd5 A C 4: 152,450,886 (GRCm39) D670A possibly damaging Het
Cmip T C 8: 117,983,994 (GRCm39) Y52H probably benign Het
Dmtn A G 14: 70,855,399 (GRCm39) I30T probably benign Het
Dscaml1 T A 9: 45,656,487 (GRCm39) M1609K probably damaging Het
Edar C A 10: 58,465,197 (GRCm39) E55D probably damaging Het
Ehmt1 A T 2: 24,729,734 (GRCm39) I601N probably damaging Het
Fam120a A T 13: 49,055,572 (GRCm39) N705K probably benign Het
Gm21718 G T 14: 51,550,292 (GRCm39) noncoding transcript Het
Gnaz A G 10: 74,827,545 (GRCm39) D99G probably benign Het
Helz G A 11: 107,493,165 (GRCm39) G196D probably damaging Het
Hif1a T C 12: 73,986,331 (GRCm39) S341P probably damaging Het
Hivep1 G T 13: 42,311,792 (GRCm39) S1344I probably benign Het
Hspa1l T A 17: 35,196,832 (GRCm39) Y290* probably null Het
Ift81 A G 5: 122,732,679 (GRCm39) L285S possibly damaging Het
Inpp4b T A 8: 82,849,253 (GRCm39) N891K probably damaging Het
Irx6 C T 8: 93,404,981 (GRCm39) T283M probably benign Het
Kdm5b A G 1: 134,559,089 (GRCm39) K1538E probably benign Het
Kif13a A G 13: 47,083,075 (GRCm39) V8A probably damaging Het
Krtap15-1 T A 16: 88,626,036 (GRCm39) N34K probably damaging Het
Lama2 T G 10: 27,245,137 (GRCm39) I215L probably damaging Het
Ldlrad3 C T 2: 101,900,328 (GRCm39) R58H possibly damaging Het
Lvrn C T 18: 47,027,792 (GRCm39) P869L probably damaging Het
Myo1d A G 11: 80,565,504 (GRCm39) F411S probably damaging Het
Myo5b T A 18: 74,828,455 (GRCm39) H702Q probably benign Het
Nat8f4 G T 6: 85,878,401 (GRCm39) Q41K probably benign Het
Nckap5 C A 1: 125,954,765 (GRCm39) E596* probably null Het
Nek10 T A 14: 14,846,594 (GRCm38) probably null Het
Notch3 T C 17: 32,363,705 (GRCm39) Y1145C probably damaging Het
Nr4a2 A T 2: 57,002,035 (GRCm39) H76Q probably benign Het
Nup98 T C 7: 101,784,185 (GRCm39) Q1049R probably damaging Het
Or4k48 A T 2: 111,476,121 (GRCm39) S74T possibly damaging Het
Or5k1b T A 16: 58,580,982 (GRCm39) R186* probably null Het
Or8k33 A T 2: 86,383,853 (GRCm39) F205Y probably damaging Het
Pepd T C 7: 34,720,409 (GRCm39) Y231H probably benign Het
Plagl1 G T 10: 13,003,301 (GRCm39) A190S possibly damaging Het
Pnmt A G 11: 98,278,286 (GRCm39) E120G probably damaging Het
Prkrip1 C A 5: 136,227,797 (GRCm39) probably null Het
Pygm G A 19: 6,443,754 (GRCm39) A572T probably damaging Het
Rbm4b T C 19: 4,807,400 (GRCm39) F39L probably damaging Het
Rpe65 A G 3: 159,328,268 (GRCm39) H388R probably benign Het
Scn4a G T 11: 106,210,914 (GRCm39) A1701E possibly damaging Het
Sdk2 C A 11: 113,748,584 (GRCm39) W616L probably damaging Het
Serpina3m T A 12: 104,357,729 (GRCm39) S218T probably benign Het
Siglece C T 7: 43,309,297 (GRCm39) R87H probably damaging Het
Sim1 C A 10: 50,785,998 (GRCm39) L284M probably damaging Het
Smok3c G T 5: 138,063,844 (GRCm39) E444* probably null Het
Snx4 T C 16: 33,115,100 (GRCm39) V427A probably benign Het
Srp68 A T 11: 116,151,684 (GRCm39) V304E probably damaging Het
Stag1 A T 9: 100,678,808 (GRCm39) H243L possibly damaging Het
Stx6 T C 1: 155,049,737 (GRCm39) V14A probably damaging Het
Sv2b T A 7: 74,786,169 (GRCm39) Y417F probably benign Het
Tas2r103 A G 6: 133,013,161 (GRCm39) Y302H probably benign Het
Thop1 T C 10: 80,916,028 (GRCm39) S404P probably benign Het
Trp53bp1 G T 2: 121,051,701 (GRCm39) C988* probably null Het
Tsbp1 C T 17: 34,678,951 (GRCm39) P221L probably damaging Het
Ube3c A G 5: 29,836,269 (GRCm39) E630G possibly damaging Het
Usf3 T C 16: 44,037,718 (GRCm39) S733P probably benign Het
Vmn1r195 A G 13: 22,463,189 (GRCm39) T220A probably benign Het
Vmn1r201 A T 13: 22,658,882 (GRCm39) H32L probably benign Het
Wnt2 A G 6: 18,023,239 (GRCm39) C137R probably damaging Het
Ythdc2 T C 18: 44,980,871 (GRCm39) S489P probably damaging Het
Zfp248 A G 6: 118,406,033 (GRCm39) C418R probably damaging Het
Zfp946 T G 17: 22,674,502 (GRCm39) F419V probably damaging Het
Zfp994 C T 17: 22,419,738 (GRCm39) E404K probably damaging Het
Zfpm1 T C 8: 123,061,347 (GRCm39) V304A possibly 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
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
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'- TGCCCTTGATTCCACACTGG -3'
(R):5'- CCCAAGACCACTTTAAGATGATTGG -3'

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