Incidental Mutation 'R4429:Serpina5'
ID 328343
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 041699-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4429 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 104067372-104072396 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 104069665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 292 (F292L)
Ref Sequence ENSEMBL: ENSMUSP00000021495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021495]
AlphaFold P70458
Predicted Effect probably benign
Transcript: ENSMUST00000021495
AA Change: F292L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021495
Gene: ENSMUSG00000041550
AA Change: F292L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 48 405 1.4e-160 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abca5 T C 11: 110,202,236 (GRCm39) T390A probably benign Het
Ahcyl2 T G 6: 29,894,874 (GRCm39) V452G probably damaging Het
Ano4 T A 10: 88,828,804 (GRCm39) N545I probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Catip T A 1: 74,407,891 (GRCm39) probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cnpy3 T A 17: 47,058,070 (GRCm39) Q111L probably benign Het
Dnah8 A G 17: 30,971,120 (GRCm39) N2725D probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Ephb3 G A 16: 21,033,213 (GRCm39) E66K probably damaging Het
Gm6594 T A 17: 82,846,923 (GRCm39) D79E probably benign Het
Gtf2e2 T A 8: 34,242,521 (GRCm39) Y74* probably null Het
Hacd4 A T 4: 88,353,184 (GRCm39) F103I possibly damaging Het
Hap1 T C 11: 100,245,098 (GRCm39) T38A probably benign Het
Havcr2 T A 11: 46,347,387 (GRCm39) D72E probably damaging Het
Iqcg G A 16: 32,839,860 (GRCm39) T362I probably benign Het
Lect2 C T 13: 56,693,538 (GRCm39) probably null Het
Lemd3 T C 10: 120,813,893 (GRCm39) T447A probably benign Het
Lrrc72 T C 12: 36,258,623 (GRCm39) N78S probably damaging Het
Map3k14 A G 11: 103,118,410 (GRCm39) L592P probably damaging Het
Meioc T C 11: 102,566,546 (GRCm39) Y721H probably damaging Het
Mrps10 T A 17: 47,689,124 (GRCm39) probably null Het
Myo5c A G 9: 75,201,283 (GRCm39) Y1406C probably damaging Het
Myo7a T C 7: 97,702,395 (GRCm39) Y2098C probably damaging Het
Nol9 C T 4: 152,125,631 (GRCm39) T194I probably damaging Het
Nox3 G A 17: 3,733,233 (GRCm39) T206I probably benign Het
Nsd2 T G 5: 34,000,546 (GRCm39) M21R probably damaging Het
Pcdh9 T C 14: 94,124,820 (GRCm39) N327S probably damaging Het
Pclo T G 5: 14,728,114 (GRCm39) probably benign Het
Pparg T A 6: 115,416,984 (GRCm39) M59K probably benign Het
Prag1 A G 8: 36,613,796 (GRCm39) K1116R probably damaging Het
Rhbdf1 C T 11: 32,163,369 (GRCm39) E368K probably benign Het
Rita1 A G 5: 120,747,626 (GRCm39) V224A probably damaging Het
Rsph6a T A 7: 18,807,988 (GRCm39) W384R probably damaging Het
Scn1a A T 2: 66,181,329 (GRCm39) Y65N possibly damaging Het
Sf3b3 A C 8: 111,552,750 (GRCm39) L511V probably benign Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slco6d1 T C 1: 98,424,091 (GRCm39) V581A possibly damaging Het
Sptbn2 T C 19: 4,788,383 (GRCm39) Y1121H probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Timm29 G C 9: 21,504,775 (GRCm39) A148P probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Uba6 C T 5: 86,268,406 (GRCm39) V941I probably damaging Het
Vmn1r174 T C 7: 23,453,565 (GRCm39) V77A probably benign Het
Zfp661 A G 2: 127,420,628 (GRCm39) V57A probably damaging Het
Zfp867 C T 11: 59,355,863 (GRCm39) D64N possibly damaging Het
Zp3r T C 1: 130,519,128 (GRCm39) T294A possibly damaging 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
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
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'- CGGCCTTCAGTGAGACAAAC -3'
(R):5'- TCAGCTATCCCTCAAGCTGG -3'

Sequencing Primer
(F):5'- TGCCCATGATGAACCGTG -3'
(R):5'- GGTCATGTCCTGGACTGAAGAC -3'
Posted On 2015-07-07