Incidental Mutation 'R9337:Serpina5'
ID 707261
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9337 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 104067372-104072396 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104071542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 383 (T383I)
Ref Sequence ENSEMBL: ENSMUSP00000021495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021495]
AlphaFold P70458
Predicted Effect possibly damaging
Transcript: ENSMUST00000021495
AA Change: T383I

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021495
Gene: ENSMUSG00000041550
AA Change: T383I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 48 405 1.4e-160 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (65/65)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adad1 T C 3: 37,139,247 (GRCm39) V439A possibly damaging Het
Ahnak G A 19: 8,989,824 (GRCm39) probably benign Het
Arhgef10l G A 4: 140,338,624 (GRCm39) T46I probably damaging Het
C3ar1 A G 6: 122,827,278 (GRCm39) V313A probably benign Het
Capn13 T A 17: 73,633,467 (GRCm39) probably null Het
Ccdc30 T A 4: 119,190,920 (GRCm39) probably null Het
Ccdc7a T C 8: 129,616,319 (GRCm39) Q928R probably benign Het
Cept1 A G 3: 106,412,575 (GRCm39) L299S possibly damaging Het
Clba1 T C 12: 112,775,898 (GRCm39) L218P probably damaging Het
Cnot1 T C 8: 96,468,448 (GRCm39) I1460M probably damaging Het
Col4a2 T C 8: 11,479,346 (GRCm39) L743P probably benign Het
Cop1 T C 1: 159,072,221 (GRCm39) V179A probably benign Het
Cpvl A G 6: 53,909,479 (GRCm39) I219T probably damaging Het
Cyc1 T C 15: 76,228,506 (GRCm39) V45A probably benign Het
Dnhd1 T A 7: 105,369,806 (GRCm39) N4410K probably benign Het
Dok4 T A 8: 95,593,469 (GRCm39) T106S probably benign Het
Exosc10 T C 4: 148,665,588 (GRCm39) F842L probably damaging Het
Fam24b T A 7: 130,927,949 (GRCm39) Y80F probably benign Het
Fbn2 G A 18: 58,342,723 (GRCm39) A52V probably benign Het
Gal3st3 A T 19: 5,356,868 (GRCm39) N81I probably damaging Het
Gm13283 T A 4: 88,679,036 (GRCm39) V9E possibly damaging Het
Gm17026 A G 14: 42,080,873 (GRCm39) S58P Het
Grm8 A T 6: 27,761,214 (GRCm39) S337T probably benign Het
Hdac5 G A 11: 102,096,178 (GRCm39) P332S probably damaging Het
Hr A T 14: 70,797,324 (GRCm39) E519V probably benign Het
Hspbap1 A G 16: 35,645,395 (GRCm39) H360R probably benign Het
Iqgap3 T G 3: 88,023,425 (GRCm39) probably null Het
Krtap5-3 T A 7: 141,756,267 (GRCm39) H175Q unknown Het
Lrrn4 A T 2: 132,712,552 (GRCm39) S424T probably benign Het
Lsm10 C A 4: 125,991,660 (GRCm39) H5Q probably damaging Het
Megf10 A T 18: 57,394,252 (GRCm39) K459* probably null Het
Myo15b A C 11: 115,749,861 (GRCm39) K210N Het
Or12e7 T A 2: 87,287,527 (GRCm39) I6N probably benign Het
Or8k38 T C 2: 86,488,476 (GRCm39) T109A probably benign Het
Park7 A T 4: 150,991,553 (GRCm39) C46S probably damaging Het
Pik3cb A G 9: 98,943,844 (GRCm39) F653S probably damaging Het
Plekha1 T A 7: 130,511,348 (GRCm39) C311S possibly damaging Het
Pprc1 T A 19: 46,052,198 (GRCm39) M576K unknown Het
Prelid3b G A 2: 174,310,161 (GRCm39) T74M probably benign Het
Prg4 T C 1: 150,327,116 (GRCm39) Y311C probably damaging Het
Prom2 A C 2: 127,371,094 (GRCm39) V801G probably damaging Het
Psmd9 T A 5: 123,386,387 (GRCm39) V44D probably damaging Het
Ptpn3 C G 4: 57,218,521 (GRCm39) L647F probably damaging Het
Ptprj T C 2: 90,270,238 (GRCm39) D1286G probably damaging Het
Rcc2 T C 4: 140,445,689 (GRCm39) I449T probably damaging Het
Rev3l A T 10: 39,698,850 (GRCm39) S1116C probably benign Het
Rnf212 A T 5: 108,922,755 (GRCm39) S32T possibly damaging Het
Rnf40 T A 7: 127,188,172 (GRCm39) S2T probably benign Het
Rrp8 T C 7: 105,383,384 (GRCm39) D294G probably damaging Het
Rtf2 A T 2: 172,308,205 (GRCm39) K201N probably damaging Het
Runx3 A G 4: 134,890,574 (GRCm39) T173A probably damaging Het
Sardh T C 2: 27,086,678 (GRCm39) I827M probably benign Het
Sec22b T C 3: 97,828,494 (GRCm39) Y186H probably benign Het
Slc12a2 A G 18: 58,063,238 (GRCm39) D906G probably damaging Het
Socs1 T C 16: 10,602,578 (GRCm39) D53G possibly damaging Het
Stat1 G T 1: 52,191,429 (GRCm39) A595S probably benign Het
Stat3 A T 11: 100,798,815 (GRCm39) probably null Het
Styxl1 T C 5: 135,794,592 (GRCm39) S82G probably benign Het
Taf1b T A 12: 24,597,121 (GRCm39) D353E possibly damaging Het
Tbce T C 13: 14,194,398 (GRCm39) K87R probably benign Het
Thada T C 17: 84,749,205 (GRCm39) M589V probably benign Het
Them5 A G 3: 94,254,048 (GRCm39) M257V unknown Het
Tln1 A T 4: 43,532,927 (GRCm39) I2425N probably damaging Het
Tuba8 A G 6: 121,202,823 (GRCm39) S379G probably damaging Het
Vrk1 T C 12: 106,024,957 (GRCm39) probably null Het
Zbtb34 T C 2: 33,301,716 (GRCm39) Y275C probably damaging Het
Zcwpw1 T C 5: 137,799,274 (GRCm39) C214R probably benign Het
Zeb2 A G 2: 44,912,912 (GRCm39) V137A 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
R6226:Serpina5 UTSW 12 104,068,037 (GRCm39) missense possibly damaging 0.72
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
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'- AGTAATGCTGTTATCATGGTGCATC -3'
(R):5'- CTGTGATCAAGGAAGCAGCCATAG -3'

Sequencing Primer
(F):5'- TCACCATAACCCAGCCCTTCTG -3'
(R):5'- GCAGCCATAGGGATATTGATCTTATC -3'
Posted On 2022-04-18