Incidental Mutation 'R5868:Serpinf2'
ID454291
Institutional Source Beutler Lab
Gene Symbol Serpinf2
Ensembl Gene ENSMUSG00000038224
Gene Nameserine (or cysteine) peptidase inhibitor, clade F, member 2
Synonymsalpha 2 antiplasmin, Pli
MMRRC Submission 044076-MU
Accession Numbers

Genbank: NM_008878; MGI: 107173

Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #R5868 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location75431732-75439591 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75433239 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 321 (T321A)
Ref Sequence ENSEMBL: ENSMUSP00000104076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043696] [ENSMUST00000108437] [ENSMUST00000128330] [ENSMUST00000142094]
Predicted Effect probably benign
Transcript: ENSMUST00000043696
AA Change: T321A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048704
Gene: ENSMUSG00000038224
AA Change: T321A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 91 436 1.5e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108437
AA Change: T321A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104076
Gene: ENSMUSG00000038224
AA Change: T321A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 91 436 1.5e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128330
SMART Domains Protein: ENSMUSP00000114450
Gene: ENSMUSG00000038224

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 91 280 1.07e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142094
SMART Domains Protein: ENSMUSP00000120812
Gene: ENSMUSG00000038224

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Meta Mutation Damage Score 0.0721 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.8%
Validation Efficiency 95% (58/61)
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 serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene have an essentially normal phenotype. Spontaneous lysis of blood clots occurs more readily but bleeding times are unaffected. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik C A 11: 69,897,575 K394N possibly damaging Het
4930451G09Rik T C 16: 4,974,068 noncoding transcript Het
Adamts18 T A 8: 113,777,748 Q80L possibly damaging Het
Apbb2 T A 5: 66,452,096 K69N probably damaging Het
Ascc3 C T 10: 50,842,183 R1991* probably null Het
BC035947 T A 1: 78,498,323 N524I probably damaging Het
Bpifa1 A G 2: 154,143,876 N37S unknown Het
Crnkl1 A T 2: 145,918,553 D648E probably benign Het
Cul5 C A 9: 53,658,673 G86V probably benign Het
Cyfip1 A C 7: 55,926,313 D1077A probably damaging Het
Dennd4a T C 9: 64,896,729 S1117P probably benign Het
Elmo2 A T 2: 165,294,272 M618K possibly damaging Het
Fam205c A T 4: 42,871,711 D221E probably damaging Het
Fggy A G 4: 95,696,988 T35A probably damaging Het
Gad2 G A 2: 22,685,067 probably null Het
Gtf3c2 A C 5: 31,168,081 F455V possibly damaging Het
Hacl1 C A 14: 31,619,916 A311S probably damaging Het
Hist4h4 C T 6: 136,804,294 G29D probably damaging Het
Kat6b G A 14: 21,634,479 D611N probably damaging Het
Kifap3 T C 1: 163,865,472 I611T probably damaging Het
Lrba A G 3: 86,319,604 Y683C probably damaging Het
Maats1 T A 16: 38,332,242 D202V probably damaging Het
Mfsd14a T C 3: 116,633,750 N413S probably benign Het
Mtmr11 T A 3: 96,171,202 D691E possibly damaging Het
Mzf1 A T 7: 13,053,189 F64I probably benign Het
Neu2 G T 1: 87,596,756 Q154H probably damaging Het
Nid1 T C 13: 13,489,157 probably null Het
Nod1 C A 6: 54,939,327 K128N probably damaging Het
Noxred1 T A 12: 87,224,202 Q215L possibly damaging Het
Npat A G 9: 53,570,124 E1044G probably damaging Het
Npr1 A G 3: 90,459,493 probably benign Het
Pdcd6 T C 13: 74,304,014 D169G probably damaging Het
Pld3 G T 7: 27,537,668 T262N probably benign Het
Plxna1 T C 6: 89,322,722 probably benign Het
Prh1 A G 6: 132,572,211 Q227R unknown Het
Prtg C A 9: 72,809,717 Y113* probably null Het
Rbm27 T A 18: 42,300,385 V242E possibly damaging Het
Ripor1 T C 8: 105,616,004 L198P probably damaging Het
Rnpc3 T C 3: 113,616,711 probably null Het
Sh3gl1 T C 17: 56,019,119 D129G probably damaging Het
Slc12a2 C A 18: 57,943,996 P1189Q probably damaging Het
Slc16a9 T C 10: 70,282,490 M213T probably benign Het
Svil G A 18: 5,056,854 probably null Het
Synpo A G 18: 60,604,046 L37P probably damaging Het
Tmprss9 A G 10: 80,882,746 H87R probably benign Het
Tmtc1 A T 6: 148,237,855 L885Q probably damaging Het
Ttc41 T C 10: 86,750,264 S811P possibly damaging Het
Vmn2r23 T C 6: 123,712,942 V259A probably benign Het
Wwox T A 8: 114,679,846 H192Q probably benign Het
Other mutations in Serpinf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Serpinf2 APN 11 75436507 missense possibly damaging 0.58
IGL01367:Serpinf2 APN 11 75438045 missense probably benign
IGL01382:Serpinf2 APN 11 75438037 unclassified probably benign
R0122:Serpinf2 UTSW 11 75436546 missense probably damaging 1.00
R0135:Serpinf2 UTSW 11 75436393 missense probably damaging 1.00
R1864:Serpinf2 UTSW 11 75437483 missense possibly damaging 0.74
R2202:Serpinf2 UTSW 11 75436762 missense probably benign 0.07
R3082:Serpinf2 UTSW 11 75437528 missense probably benign 0.19
R5117:Serpinf2 UTSW 11 75432500 missense probably benign 0.28
R5487:Serpinf2 UTSW 11 75433205 missense probably damaging 0.99
R5681:Serpinf2 UTSW 11 75435939 missense probably damaging 0.99
R5764:Serpinf2 UTSW 11 75437404 missense possibly damaging 0.94
R6349:Serpinf2 UTSW 11 75432431 missense probably damaging 1.00
R6364:Serpinf2 UTSW 11 75436489 missense probably damaging 1.00
R6488:Serpinf2 UTSW 11 75437503 missense probably benign
R6701:Serpinf2 UTSW 11 75432443 missense probably damaging 0.97
R7034:Serpinf2 UTSW 11 75438418 unclassified probably benign
R7036:Serpinf2 UTSW 11 75438418 unclassified probably benign
YA93:Serpinf2 UTSW 11 75432684 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATCAAATGCTCCCATCCAGG -3'
(R):5'- GGCTCTTGTCTCAAAAGTACAGAAG -3'

Sequencing Primer
(F):5'- TGCTCCCATCCAGGAAGCAG -3'
(R):5'- GAAGTAATTTTGGCCCAGACTCCAG -3'
Posted On2017-02-10