Incidental Mutation 'R6226:Serpina5'
ID 504362
Institutional Source Beutler Lab
Gene Symbol Serpina5
Ensembl Gene ENSMUSG00000041550
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 5
Synonyms PAI-3, Pci, antitrypsin, alpha-1 antiproteinase
MMRRC Submission 044397-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6226 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 104067372-104072396 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104068037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 33 (S33P)
Ref Sequence ENSEMBL: ENSMUSP00000021495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021495]
AlphaFold P70458
Predicted Effect possibly damaging
Transcript: ENSMUST00000021495
AA Change: S33P

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021495
Gene: ENSMUSG00000041550
AA Change: S33P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 48 405 1.4e-160 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene are phenotypically normal with the exception that males are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,293,853 (GRCm39) T62A probably benign Het
Adam33 G A 2: 130,897,530 (GRCm39) T265I probably damaging Het
Afap1l2 T C 19: 56,904,560 (GRCm39) T654A probably benign Het
Agrn A G 4: 156,258,066 (GRCm39) S992P probably damaging Het
Anapc1 A G 2: 128,492,292 (GRCm39) F939L probably damaging Het
Anks1 G A 17: 28,276,304 (GRCm39) V1016I probably benign Het
Ankzf1 A G 1: 75,173,238 (GRCm39) T401A probably benign Het
Atad1 G T 19: 32,678,987 (GRCm39) D105E probably benign Het
Carmil2 A G 8: 106,415,664 (GRCm39) T313A possibly damaging Het
Cdk15 T C 1: 59,304,792 (GRCm39) V131A probably damaging Het
Cldnd1 A T 16: 58,551,663 (GRCm39) probably null Het
Col16a1 A T 4: 129,948,882 (GRCm39) probably benign Het
Cts3 T A 13: 61,716,535 (GRCm39) I34L probably benign Het
Dnah7b A C 1: 46,165,828 (GRCm39) K498Q probably benign Het
Dnase2b A G 3: 146,290,318 (GRCm39) Y218H probably benign Het
Dsg2 T A 18: 20,712,506 (GRCm39) V170D probably damaging Het
Dst T C 1: 34,309,955 (GRCm39) V1543A probably damaging Het
Ell3 A T 2: 121,272,258 (GRCm39) I72K probably damaging Het
Fank1 A G 7: 133,463,927 (GRCm39) Y41C probably benign Het
Foxd3 T C 4: 99,545,261 (GRCm39) Y134H probably damaging Het
Frmd6 A G 12: 70,910,685 (GRCm39) probably benign Het
Gale A G 4: 135,692,916 (GRCm39) E53G possibly damaging Het
Glis3 A G 19: 28,294,702 (GRCm39) S699P probably damaging Het
Gm12830 T A 4: 114,702,246 (GRCm39) M136K unknown Het
Grik3 T C 4: 125,553,582 (GRCm39) V438A probably benign Het
Gsap A G 5: 21,422,429 (GRCm39) N133D probably damaging Het
Gsg1 T A 6: 135,217,110 (GRCm39) D239V probably damaging Het
H2-T10 A T 17: 36,431,975 (GRCm39) W23R probably damaging Het
Itgae A G 11: 73,031,583 (GRCm39) T1100A probably benign Het
Kcnh7 A T 2: 62,607,903 (GRCm39) F559L probably damaging Het
Kdm5b G T 1: 134,536,616 (GRCm39) R612L probably damaging Het
Lrrc74a T A 12: 86,795,231 (GRCm39) N253K possibly damaging Het
Mcm3ap A G 10: 76,351,540 (GRCm39) H1961R possibly damaging Het
Ncam1 C T 9: 49,476,304 (GRCm39) E262K probably benign Het
Nckap1 A G 2: 80,339,125 (GRCm39) S968P possibly damaging Het
Nkapd1 T C 9: 50,519,070 (GRCm39) T181A possibly damaging Het
Nr2f2 T G 7: 70,009,744 (GRCm39) S112R probably benign Het
Nup93 T C 8: 95,013,165 (GRCm39) W137R probably damaging Het
Or10ag53 A G 2: 87,082,736 (GRCm39) S152G probably benign Het
Or2t26 A G 11: 49,039,660 (GRCm39) D192G possibly damaging Het
Or4a78 A T 2: 89,497,333 (GRCm39) L299H probably damaging Het
Or52n1 A T 7: 104,383,243 (GRCm39) F109L probably damaging Het
Or8b12 T A 9: 37,657,433 (GRCm39) M1K probably null Het
Or8b55 T C 9: 38,727,666 (GRCm39) I289T probably damaging Het
Otogl A T 10: 107,607,067 (GRCm39) Y2105* probably null Het
Pibf1 A G 14: 99,338,555 (GRCm39) S24G probably damaging Het
Pitx2 C T 3: 129,009,491 (GRCm39) R130W probably damaging Het
Pkd1l1 T C 11: 8,851,287 (GRCm39) N715S probably benign Het
Pou6f2 A T 13: 18,303,739 (GRCm39) I123N possibly damaging Het
Prss29 T A 17: 25,539,513 (GRCm39) H35Q possibly damaging Het
Ptpn21 A G 12: 98,646,375 (GRCm39) F1028L probably benign Het
Ptpn21 A T 12: 98,681,431 (GRCm39) Y68N probably damaging Het
Ptprk A G 10: 28,440,099 (GRCm39) T856A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpl22l1 A G 3: 28,860,676 (GRCm39) T13A possibly damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sec14l5 G A 16: 4,994,429 (GRCm39) V408I probably damaging Het
Sgip1 A G 4: 102,823,392 (GRCm39) N524S probably damaging Het
Shkbp1 C A 7: 27,051,405 (GRCm39) R218M probably null Het
Sorcs1 T A 19: 50,169,852 (GRCm39) I970F probably damaging Het
Spg11 A G 2: 121,918,743 (GRCm39) V962A possibly damaging Het
Sptbn1 A G 11: 30,086,054 (GRCm39) M1205T probably damaging Het
Sufu G A 19: 46,462,093 (GRCm39) V369M probably damaging Het
Tmem98 T C 11: 80,712,220 (GRCm39) F219S probably benign Het
Trim27 T C 13: 21,365,086 (GRCm39) probably benign Het
Trim43b T C 9: 88,973,328 (GRCm39) E135G possibly damaging Het
Ube2m A G 7: 12,769,815 (GRCm39) V110A probably damaging Het
Ugt2b36 A G 5: 87,239,989 (GRCm39) V132A probably damaging Het
Usp36 A T 11: 118,168,100 (GRCm39) S86T probably damaging Het
Zfp941 A T 7: 140,392,398 (GRCm39) D320E probably benign Het
Other mutations in Serpina5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Serpina5 APN 12 104,071,479 (GRCm39) missense probably damaging 1.00
IGL01138:Serpina5 APN 12 104,070,003 (GRCm39) missense possibly damaging 0.60
IGL01526:Serpina5 APN 12 104,068,149 (GRCm39) missense probably damaging 1.00
IGL02159:Serpina5 APN 12 104,071,557 (GRCm39) missense possibly damaging 0.95
IGL02351:Serpina5 APN 12 104,068,384 (GRCm39) missense probably damaging 1.00
IGL02358:Serpina5 APN 12 104,068,384 (GRCm39) missense probably damaging 1.00
IGL02735:Serpina5 APN 12 104,070,116 (GRCm39) missense probably benign 0.21
IGL03087:Serpina5 APN 12 104,067,992 (GRCm39) missense probably benign 0.01
R0189:Serpina5 UTSW 12 104,069,589 (GRCm39) missense probably damaging 1.00
R0304:Serpina5 UTSW 12 104,069,459 (GRCm39) missense possibly damaging 0.76
R0492:Serpina5 UTSW 12 104,068,392 (GRCm39) missense probably damaging 1.00
R0511:Serpina5 UTSW 12 104,069,621 (GRCm39) missense probably benign 0.00
R0611:Serpina5 UTSW 12 104,070,046 (GRCm39) missense probably benign
R1016:Serpina5 UTSW 12 104,071,582 (GRCm39) missense probably damaging 0.97
R1649:Serpina5 UTSW 12 104,071,484 (GRCm39) missense possibly damaging 0.94
R1970:Serpina5 UTSW 12 104,070,116 (GRCm39) missense probably benign 0.02
R4429:Serpina5 UTSW 12 104,069,665 (GRCm39) missense probably benign 0.00
R4805:Serpina5 UTSW 12 104,068,460 (GRCm39) missense probably damaging 0.97
R5608:Serpina5 UTSW 12 104,070,003 (GRCm39) missense probably damaging 1.00
R7097:Serpina5 UTSW 12 104,068,554 (GRCm39) critical splice donor site probably null
R7357:Serpina5 UTSW 12 104,069,639 (GRCm39) missense possibly damaging 0.85
R8208:Serpina5 UTSW 12 104,071,532 (GRCm39) missense probably benign 0.00
R9337:Serpina5 UTSW 12 104,071,542 (GRCm39) missense possibly damaging 0.92
R9383:Serpina5 UTSW 12 104,070,131 (GRCm39) missense probably damaging 1.00
R9526:Serpina5 UTSW 12 104,069,403 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGCCTCATGGTCTAGTTTC -3'
(R):5'- CTGGGTCTTCGTCTTCAAGC -3'

Sequencing Primer
(F):5'- GCAGATGTCAGCCTACTCATTGTG -3'
(R):5'- CGTCTTCAAGCCAGCCC -3'
Posted On 2018-02-28