Incidental Mutation 'R4536:Tfpi2'
ID 333323
Institutional Source Beutler Lab
Gene Symbol Tfpi2
Ensembl Gene ENSMUSG00000029664
Gene Name tissue factor pathway inhibitor 2
Synonyms PP5/TFPI-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R4536 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 3962595-3988919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3968044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 32 (N32S)
Ref Sequence ENSEMBL: ENSMUSP00000031674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031674] [ENSMUST00000183682] [ENSMUST00000203257]
AlphaFold O35536
Predicted Effect possibly damaging
Transcript: ENSMUST00000031674
AA Change: N32S

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031674
Gene: ENSMUSG00000029664
AA Change: N32S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
KU 34 87 2.75e-26 SMART
KU 94 147 1.92e-2 SMART
KU 154 207 1.33e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183682
SMART Domains Protein: ENSMUSP00000139066
Gene: ENSMUSG00000029664

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
KU 30 83 2.75e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203257
SMART Domains Protein: ENSMUSP00000145193
Gene: ENSMUSG00000029664

DomainStartEndE-ValueType
Blast:KU 1 29 3e-12 BLAST
KU 36 89 6.5e-22 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
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 Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amot A G X: 144,263,138 (GRCm39) S398P probably benign Het
Arhgef17 G C 7: 100,579,061 (GRCm39) S629C probably damaging Het
Atg5lrt G A 10: 95,972,564 (GRCm39) A34T probably benign Het
Atp5if1 A C 4: 132,260,870 (GRCm39) S4A possibly damaging Het
Atp8b2 G A 3: 89,849,091 (GRCm39) A1081V probably benign Het
Atr A G 9: 95,756,471 (GRCm39) D867G probably benign Het
C1qtnf3 G A 15: 10,972,113 (GRCm39) S206N probably damaging Het
Cep152 A C 2: 125,444,867 (GRCm39) probably null Het
Cetn1 T C 18: 9,618,998 (GRCm39) E141G probably damaging Het
Dennd2b A T 7: 109,130,363 (GRCm39) S879R probably damaging Het
Erbb4 A T 1: 68,385,781 (GRCm39) N269K probably damaging Het
Exoc4 C T 6: 33,254,179 (GRCm39) R112C probably damaging Het
Frmd4b T A 6: 97,287,693 (GRCm39) Q241L possibly damaging Het
Fyco1 A G 9: 123,667,953 (GRCm39) V91A probably damaging Het
Gls2 G A 10: 128,036,806 (GRCm39) V196I probably benign Het
Hormad1 T C 3: 95,492,452 (GRCm39) V343A probably benign Het
Incenp T C 19: 9,861,303 (GRCm39) N450S unknown Het
Klhl1 A C 14: 96,374,019 (GRCm39) probably null Het
Mettl4 C A 17: 95,042,933 (GRCm39) S301I possibly damaging Het
Mlxip G A 5: 123,588,566 (GRCm39) D819N probably damaging Het
Or10d5 A T 9: 39,861,731 (GRCm39) L112Q probably damaging Het
Pam T A 1: 97,772,424 (GRCm39) K440* probably null Het
Phldb2 T C 16: 45,591,044 (GRCm39) M996V probably benign Het
Pira13 T A 7: 3,825,251 (GRCm39) M464L probably benign Het
Rad51ap2 A G 12: 11,507,850 (GRCm39) S591G possibly damaging Het
Rfx6 A G 10: 51,599,880 (GRCm39) N542S probably benign Het
Slc44a4 T A 17: 35,142,815 (GRCm39) C254S probably damaging Het
Sptbn2 C T 19: 4,782,630 (GRCm39) A522V probably damaging Het
Syt10 C T 15: 89,666,825 (GRCm39) D509N probably damaging Het
Tango2 A G 16: 18,142,219 (GRCm39) probably null Het
Trafd1 T C 5: 121,517,746 (GRCm39) probably null Het
Ttll2 A T 17: 7,619,120 (GRCm39) I269N probably benign Het
Tysnd1 G A 10: 61,531,832 (GRCm39) W161* probably null Het
Uggt2 A T 14: 119,256,970 (GRCm39) M1088K probably benign Het
Other mutations in Tfpi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00436:Tfpi2 APN 6 3,965,407 (GRCm39) missense probably benign 0.17
IGL00721:Tfpi2 APN 6 3,963,414 (GRCm39) missense probably benign 0.41
IGL01017:Tfpi2 APN 6 3,965,359 (GRCm39) missense probably benign 0.00
Runnymeade UTSW 6 3,968,281 (GRCm39) missense probably damaging 1.00
R0391:Tfpi2 UTSW 6 3,965,460 (GRCm39) missense probably benign
R1352:Tfpi2 UTSW 6 3,968,281 (GRCm39) missense probably damaging 1.00
R1620:Tfpi2 UTSW 6 3,965,507 (GRCm39) missense probably benign 0.17
R3441:Tfpi2 UTSW 6 3,965,504 (GRCm39) missense probably benign 0.01
R4183:Tfpi2 UTSW 6 3,963,926 (GRCm39) missense probably damaging 1.00
R4534:Tfpi2 UTSW 6 3,968,044 (GRCm39) missense possibly damaging 0.87
R4535:Tfpi2 UTSW 6 3,968,044 (GRCm39) missense possibly damaging 0.87
R7048:Tfpi2 UTSW 6 3,968,032 (GRCm39) missense probably damaging 1.00
R7870:Tfpi2 UTSW 6 3,968,281 (GRCm39) missense probably damaging 1.00
R8116:Tfpi2 UTSW 6 3,963,872 (GRCm39) missense probably damaging 0.99
R8379:Tfpi2 UTSW 6 3,963,849 (GRCm39) missense probably damaging 1.00
R8907:Tfpi2 UTSW 6 3,967,996 (GRCm39) missense probably damaging 1.00
Z1177:Tfpi2 UTSW 6 3,974,633 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GCCGGTTATGTTCTGTCACC -3'
(R):5'- CAAGGTATCTGCCCAGGATC -3'

Sequencing Primer
(F):5'- ACACTTACTCTCGATACTTCCGCAAG -3'
(R):5'- TGCCCAGGATCCCCCTTG -3'
Posted On 2015-08-18