Incidental Mutation 'R8550:Serpine1'
ID 659818
Institutional Source Beutler Lab
Gene Symbol Serpine1
Ensembl Gene ENSMUSG00000037411
Gene Name serine (or cysteine) peptidase inhibitor, clade E, member 1
Synonyms PAI1, Planh1, PAI-1
MMRRC Submission 068515-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8550 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 137090358-137101122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137092352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 385 (V385A)
Ref Sequence ENSEMBL: ENSMUSP00000076728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041388] [ENSMUST00000077523]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000041388
AA Change: V385A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039586
Gene: ENSMUSG00000037411
AA Change: V385A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 40 402 9.47e-158 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077523
AA Change: V385A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076728
Gene: ENSMUSG00000037411
AA Change: V385A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 40 402 9.47e-158 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Although mice homozygous for disruptions in this gene display an essentially normal phenotype, a mild blood clotting defect does exist. Mice homozygous for an allele with amino acid substitutions exhibit decreased sensitivity to LPS-induced lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,265,786 (GRCm39) K295* probably null Het
AB124611 A T 9: 21,451,882 (GRCm39) D146V probably damaging Het
Adgrl3 A T 5: 81,942,599 (GRCm39) T1469S possibly damaging Het
Anxa7 G A 14: 20,506,593 (GRCm39) T449M probably damaging Het
Birc6 T G 17: 74,864,949 (GRCm39) S236R probably benign Het
C1qc C T 4: 136,617,587 (GRCm39) V170I possibly damaging Het
Ccl25 A G 8: 4,377,890 (GRCm39) E50G possibly damaging Het
Clk1 A T 1: 58,451,835 (GRCm39) Y427N probably damaging Het
Cul9 C A 17: 46,830,772 (GRCm39) C1707F probably damaging Het
Cyp4f17 G A 17: 32,746,936 (GRCm39) V413I probably benign Het
Ddc A G 11: 11,785,743 (GRCm39) W315R probably damaging Het
Degs1l A T 1: 180,887,324 (GRCm39) D303V probably damaging Het
Eif1ad15 T C 12: 88,290,652 (GRCm39) probably benign Het
Eogt A C 6: 97,089,033 (GRCm39) H524Q probably benign Het
Eya4 G A 10: 22,982,157 (GRCm39) H601Y probably damaging Het
Hexa G A 9: 59,468,182 (GRCm39) A270T probably benign Het
Hmcn2 T C 2: 31,240,654 (GRCm39) probably null Het
Ighv5-17 A T 12: 113,822,904 (GRCm39) S72R possibly damaging Het
Itgad A G 7: 127,803,064 (GRCm39) T7A probably damaging Het
Mapk8 A T 14: 33,124,615 (GRCm39) I139N probably damaging Het
Metap1 G A 3: 138,172,077 (GRCm39) A280V possibly damaging Het
Mrpl35 T C 6: 71,793,259 (GRCm39) K131E probably damaging Het
Neb A G 2: 52,188,924 (GRCm39) V802A probably benign Het
Nlrp3 T G 11: 59,440,097 (GRCm39) V558G probably damaging Het
Nr3c1 A T 18: 39,619,842 (GRCm39) N148K possibly damaging Het
Or3a1c A C 11: 74,046,015 (GRCm39) I12L probably benign Het
Padi6 T C 4: 140,460,014 (GRCm39) K359R probably benign Het
Rexo5 A G 7: 119,400,568 (GRCm39) T118A probably benign Het
Slc25a25 A G 2: 32,306,205 (GRCm39) I485T probably damaging Het
Slc26a3 A T 12: 31,511,739 (GRCm39) L441F probably damaging Het
Spta1 A T 1: 174,014,774 (GRCm39) D418V probably damaging Het
Supt20 T C 3: 54,623,063 (GRCm39) V511A possibly damaging Het
Tfap2a T C 13: 40,882,225 (GRCm39) T21A probably damaging Het
Tia1 A G 6: 86,402,684 (GRCm39) M232V probably benign Het
Tmem132a T C 19: 10,837,745 (GRCm39) T522A probably benign Het
Top2a A T 11: 98,886,744 (GRCm39) D1336E probably benign Het
Trav3-1 A C 14: 52,818,390 (GRCm39) R21S probably benign Het
Utrn C A 10: 12,689,329 (GRCm39) probably benign Het
Vmn1r119 A T 7: 20,745,980 (GRCm39) V134D probably benign Het
Zfta T C 19: 7,400,320 (GRCm39) M262T probably benign Het
Other mutations in Serpine1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Serpine1 APN 5 137,092,376 (GRCm39) missense probably benign 0.01
IGL01337:Serpine1 APN 5 137,098,185 (GRCm39) missense probably damaging 0.99
IGL01484:Serpine1 APN 5 137,092,326 (GRCm39) splice site probably benign
IGL02134:Serpine1 APN 5 137,095,889 (GRCm39) splice site probably benign
R0508:Serpine1 UTSW 5 137,093,770 (GRCm39) missense probably benign 0.00
R1969:Serpine1 UTSW 5 137,096,601 (GRCm39) nonsense probably null
R4515:Serpine1 UTSW 5 137,098,322 (GRCm39) missense probably damaging 0.99
R4951:Serpine1 UTSW 5 137,098,205 (GRCm39) missense probably benign 0.04
R5540:Serpine1 UTSW 5 137,092,063 (GRCm39) missense probably benign 0.03
R7122:Serpine1 UTSW 5 137,095,796 (GRCm39) missense probably benign 0.28
R7144:Serpine1 UTSW 5 137,099,918 (GRCm39) missense probably damaging 1.00
R7146:Serpine1 UTSW 5 137,099,918 (GRCm39) missense probably damaging 1.00
R7844:Serpine1 UTSW 5 137,100,043 (GRCm39) nonsense probably null
R8042:Serpine1 UTSW 5 137,095,855 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAGCTACCAGGAGTCACAG -3'
(R):5'- ATCATTCCCCAGTGCTGATATC -3'

Sequencing Primer
(F):5'- CTGCCCAGGGACTAAGTTAG -3'
(R):5'- CCCAGTGCTGATATCAGATAGACTG -3'
Posted On 2021-01-18