Incidental Mutation 'R3082:Serpinf2'
ID 265493
Institutional Source Beutler Lab
Gene Symbol Serpinf2
Ensembl Gene ENSMUSG00000038224
Gene Name serine (or cysteine) peptidase inhibitor, clade F, member 2
Synonyms Pli, alpha 2 antiplasmin
MMRRC Submission 040572-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R3082 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 75322562-75330327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75328354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 65 (R65G)
Ref Sequence ENSEMBL: ENSMUSP00000114450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043696] [ENSMUST00000108437] [ENSMUST00000128330] [ENSMUST00000142094] [ENSMUST00000173320]
AlphaFold Q61247
Predicted Effect probably benign
Transcript: ENSMUST00000043696
AA Change: R65G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000048704
Gene: ENSMUSG00000038224
AA Change: R65G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 91 436 1.5e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108437
AA Change: R65G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104076
Gene: ENSMUSG00000038224
AA Change: R65G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 91 436 1.5e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117392
SMART Domains Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374

DomainStartEndE-ValueType
Beach 347 589 2.52e-98 SMART
low complexity region 673 704 N/A INTRINSIC
low complexity region 848 874 N/A INTRINSIC
low complexity region 1141 1165 N/A INTRINSIC
low complexity region 1196 1210 N/A INTRINSIC
low complexity region 1566 1587 N/A INTRINSIC
WD40 1630 1669 3.19e-7 SMART
WD40 1679 1716 1.18e2 SMART
WD40 1719 1761 7.36e1 SMART
WD40 1764 1807 3.3e1 SMART
WD40 1810 1848 3.58e-1 SMART
WD40 1893 1934 4.26e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128330
AA Change: R65G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114450
Gene: ENSMUSG00000038224
AA Change: R65G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 91 280 1.07e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132442
SMART Domains Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374

DomainStartEndE-ValueType
low complexity region 1 7 N/A INTRINSIC
low complexity region 23 47 N/A INTRINSIC
low complexity region 78 92 N/A INTRINSIC
low complexity region 448 469 N/A INTRINSIC
WD40 512 551 3.19e-7 SMART
WD40 561 598 1.18e2 SMART
WD40 601 670 3.55e1 SMART
Blast:WD40 673 710 3e-14 BLAST
WD40 715 756 4.26e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142094
SMART Domains Protein: ENSMUSP00000120812
Gene: ENSMUSG00000038224

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173320
SMART Domains Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374

DomainStartEndE-ValueType
Beach 347 589 2.52e-98 SMART
low complexity region 673 704 N/A INTRINSIC
low complexity region 848 874 N/A INTRINSIC
low complexity region 1141 1165 N/A INTRINSIC
low complexity region 1196 1210 N/A INTRINSIC
low complexity region 1566 1587 N/A INTRINSIC
WD40 1630 1669 3.19e-7 SMART
WD40 1679 1716 1.18e2 SMART
WD40 1719 1761 7.36e1 SMART
WD40 1764 1807 3.3e1 SMART
WD40 1810 1848 3.58e-1 SMART
WD40 1893 1934 4.26e1 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (44/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,859,576 (GRCm39) V341A possibly damaging Het
Adam11 T C 11: 102,660,943 (GRCm39) probably benign Het
Aox1 G T 1: 58,322,759 (GRCm39) probably benign Het
Cdh6 T C 15: 13,044,838 (GRCm39) D428G probably damaging Het
Cep63 T C 9: 102,479,696 (GRCm39) T339A probably benign Het
Clcn1 T C 6: 42,267,112 (GRCm39) Y66H probably damaging Het
Cpsf2 C G 12: 101,955,069 (GRCm39) S280C probably damaging Het
Dcaf6 G T 1: 165,250,421 (GRCm39) probably benign Het
Ddx39a T A 8: 84,449,335 (GRCm39) N344K possibly damaging Het
Dvl1 T C 4: 155,932,316 (GRCm39) V42A possibly damaging Het
Ep400 A G 5: 110,841,096 (GRCm39) probably benign Het
Epb41l5 C T 1: 119,536,992 (GRCm39) V300I probably damaging Het
Fbln1 T G 15: 85,149,454 (GRCm39) I617S probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Grin3a G A 4: 49,665,243 (GRCm39) R1131W probably benign Het
Incenp T A 19: 9,861,143 (GRCm39) M480L unknown Het
Ints13 G T 6: 146,476,205 (GRCm39) Q99K possibly damaging Het
L2hgdh C T 12: 69,768,858 (GRCm39) D85N probably benign Het
Lct A G 1: 128,215,345 (GRCm39) Y1744H probably damaging Het
Macf1 T C 4: 123,255,236 (GRCm39) probably null Het
Mpdz A T 4: 81,203,695 (GRCm39) probably benign Het
Naa15 T C 3: 51,367,471 (GRCm39) L498P probably damaging Het
Naip6 T A 13: 100,452,925 (GRCm39) E45D probably benign Het
Nedd4l T A 18: 65,312,049 (GRCm39) N405K probably benign Het
Or4l15 A G 14: 50,198,161 (GRCm39) Y123H probably damaging Het
Or8u10 C T 2: 85,916,053 (GRCm39) V23I probably benign Het
Pitpnc1 A G 11: 107,103,350 (GRCm39) S250P possibly damaging Het
Ppp1r18 A G 17: 36,184,742 (GRCm39) D131G probably damaging Het
Prdm5 A G 6: 65,913,069 (GRCm39) D206G probably damaging Het
Pygl A G 12: 70,244,303 (GRCm39) F455S probably damaging Het
Rictor A T 15: 6,804,338 (GRCm39) Y565F probably benign Het
Ryr1 T C 7: 28,745,071 (GRCm39) N3852D probably damaging Het
S1pr5 A T 9: 21,156,286 (GRCm39) C47S probably damaging Het
Slfn14 C T 11: 83,167,519 (GRCm39) W665* probably null Het
Smu1 T C 4: 40,745,567 (GRCm39) D251G probably damaging Het
Spata18 A G 5: 73,836,423 (GRCm39) probably benign Het
Tex19.2 A G 11: 121,007,557 (GRCm39) V297A probably benign Het
Tmem131l A G 3: 83,816,457 (GRCm39) probably null Het
Trim9 T C 12: 70,301,887 (GRCm39) R584G possibly damaging Het
Trpm7 A T 2: 126,686,342 (GRCm39) N295K possibly damaging Het
Ugt2a3 A G 5: 87,473,534 (GRCm39) V461A probably benign Het
Vmn1r45 A T 6: 89,910,724 (GRCm39) M82K probably benign Het
Other mutations in Serpinf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Serpinf2 APN 11 75,327,333 (GRCm39) missense possibly damaging 0.58
IGL01367:Serpinf2 APN 11 75,328,871 (GRCm39) missense probably benign
IGL01382:Serpinf2 APN 11 75,328,863 (GRCm39) unclassified probably benign
R0122:Serpinf2 UTSW 11 75,327,372 (GRCm39) missense probably damaging 1.00
R0135:Serpinf2 UTSW 11 75,327,219 (GRCm39) missense probably damaging 1.00
R1864:Serpinf2 UTSW 11 75,328,309 (GRCm39) missense possibly damaging 0.74
R2202:Serpinf2 UTSW 11 75,327,588 (GRCm39) missense probably benign 0.07
R5117:Serpinf2 UTSW 11 75,323,326 (GRCm39) missense probably benign 0.28
R5487:Serpinf2 UTSW 11 75,324,031 (GRCm39) missense probably damaging 0.99
R5681:Serpinf2 UTSW 11 75,326,765 (GRCm39) missense probably damaging 0.99
R5764:Serpinf2 UTSW 11 75,328,230 (GRCm39) missense possibly damaging 0.94
R5868:Serpinf2 UTSW 11 75,324,065 (GRCm39) missense probably benign 0.00
R6349:Serpinf2 UTSW 11 75,323,257 (GRCm39) missense probably damaging 1.00
R6364:Serpinf2 UTSW 11 75,327,315 (GRCm39) missense probably damaging 1.00
R6488:Serpinf2 UTSW 11 75,328,329 (GRCm39) missense probably benign
R6701:Serpinf2 UTSW 11 75,323,269 (GRCm39) missense probably damaging 0.97
R7034:Serpinf2 UTSW 11 75,329,244 (GRCm39) unclassified probably benign
R7036:Serpinf2 UTSW 11 75,329,244 (GRCm39) unclassified probably benign
R9147:Serpinf2 UTSW 11 75,323,418 (GRCm39) missense probably damaging 1.00
R9148:Serpinf2 UTSW 11 75,323,418 (GRCm39) missense probably damaging 1.00
R9487:Serpinf2 UTSW 11 75,323,494 (GRCm39) missense probably damaging 0.97
R9509:Serpinf2 UTSW 11 75,328,895 (GRCm39) missense probably benign 0.01
R9578:Serpinf2 UTSW 11 75,327,615 (GRCm39) missense probably benign 0.07
YA93:Serpinf2 UTSW 11 75,323,510 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTTCTGGACAGGTGTGACC -3'
(R):5'- TGTCGCATCAGGACTGAGAG -3'

Sequencing Primer
(F):5'- TGTGACCCCAGTACCTAGTG -3'
(R):5'- GGTCCTGAGTTCAAATCCCAG -3'
Posted On 2015-02-05