Incidental Mutation 'R2886:Serpini2'
ID 261040
Institutional Source Beutler Lab
Gene Symbol Serpini2
Ensembl Gene ENSMUSG00000034139
Gene Name serine (or cysteine) peptidase inhibitor, clade I, member 2
Synonyms 1810006A24Rik
MMRRC Submission 040474-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R2886 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 75149677-75177385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75166921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 112 (Y112C)
Ref Sequence ENSEMBL: ENSMUSP00000046943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039047]
AlphaFold Q9JK88
Predicted Effect probably damaging
Transcript: ENSMUST00000039047
AA Change: Y112C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139
AA Change: Y112C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 31 392 8.75e-130 SMART
Meta Mutation Damage Score 0.3535 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a transgene insertion/deletion encompassing this gene display pancreatic insufficiency characterized by progressive apoptosis of pancreatic acinar cells, postnatal growth retardation, immunological anomalies, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,035,712 (GRCm39) probably benign Het
Bicdl2 G A 17: 23,885,732 (GRCm39) probably null Het
Cables1 A G 18: 12,072,789 (GRCm39) D448G possibly damaging Het
Casq2 A T 3: 102,051,534 (GRCm39) N338I probably damaging Het
Ccr1l1 T C 9: 123,777,553 (GRCm39) N298S probably damaging Het
Dnajc17 A G 2: 119,009,933 (GRCm39) V231A probably benign Het
Ell2 T C 13: 75,911,904 (GRCm39) S397P probably damaging Het
Gm9966 T C 7: 95,607,753 (GRCm39) C25R unknown Het
H2-DMa A G 17: 34,356,121 (GRCm39) N41S probably damaging Het
Helz2 A G 2: 180,882,535 (GRCm39) M86T probably benign Het
Il17rd T A 14: 26,821,510 (GRCm39) I268N probably damaging Het
Ipcef1 C T 10: 6,850,641 (GRCm39) V317M probably damaging Het
Itgae A T 11: 73,031,513 (GRCm39) E1076D probably benign Het
Kcnq5 A T 1: 21,539,771 (GRCm39) Y382* probably null Het
Kif21b G A 1: 136,075,612 (GRCm39) probably benign Het
Lilrb4a A T 10: 51,367,709 (GRCm39) N84Y probably benign Het
Mdga2 A G 12: 66,553,044 (GRCm39) probably benign Het
Naca T C 10: 127,877,547 (GRCm39) probably benign Het
Naif1 C T 2: 32,344,887 (GRCm39) P197L probably benign Het
Nrk T C X: 137,876,197 (GRCm39) L466P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pkn1 G A 8: 84,407,867 (GRCm39) A421V probably benign Het
Rusc2 A G 4: 43,415,456 (GRCm39) Q254R probably benign Het
Ryr1 G T 7: 28,774,223 (GRCm39) R2404S probably damaging Het
Selenon T C 4: 134,270,380 (GRCm39) D324G probably null Het
Serpinh1 T C 7: 98,998,228 (GRCm39) Y134C probably damaging Het
Setx T G 2: 29,038,637 (GRCm39) C1707W probably damaging Het
Sit1 C T 4: 43,483,314 (GRCm39) R50H possibly damaging Het
Slc27a5 T A 7: 12,723,487 (GRCm39) probably benign Het
Slc5a4b C T 10: 75,910,907 (GRCm39) V310M probably damaging Het
Smc6 T C 12: 11,326,294 (GRCm39) V97A probably damaging Het
Ube2frt A G 12: 36,140,574 (GRCm39) probably benign Het
Usp42 T C 5: 143,707,384 (GRCm39) probably benign Het
Utrn A T 10: 12,615,105 (GRCm39) probably null Het
Vmn2r82 A G 10: 79,232,082 (GRCm39) I694V probably benign Het
Vmn2r-ps69 T C 7: 84,956,832 (GRCm39) noncoding transcript Het
Zfpm2 A G 15: 40,965,719 (GRCm39) T603A probably benign Het
Other mutations in Serpini2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Serpini2 APN 3 75,156,549 (GRCm39) missense probably damaging 1.00
IGL00736:Serpini2 APN 3 75,175,116 (GRCm39) missense possibly damaging 0.70
IGL03398:Serpini2 APN 3 75,166,852 (GRCm39) missense probably benign 0.00
R0271:Serpini2 UTSW 3 75,153,885 (GRCm39) missense probably damaging 1.00
R0545:Serpini2 UTSW 3 75,165,445 (GRCm39) missense probably benign 0.04
R2309:Serpini2 UTSW 3 75,166,997 (GRCm39) missense probably damaging 0.99
R2435:Serpini2 UTSW 3 75,165,475 (GRCm39) missense probably benign 0.00
R5054:Serpini2 UTSW 3 75,166,784 (GRCm39) missense probably damaging 1.00
R5151:Serpini2 UTSW 3 75,153,820 (GRCm39) missense possibly damaging 0.93
R5554:Serpini2 UTSW 3 75,175,295 (GRCm39) start gained probably benign
R5614:Serpini2 UTSW 3 75,165,014 (GRCm39) intron probably benign
R6413:Serpini2 UTSW 3 75,166,921 (GRCm39) missense probably damaging 1.00
R6510:Serpini2 UTSW 3 75,159,875 (GRCm39) missense probably damaging 0.97
R6688:Serpini2 UTSW 3 75,166,870 (GRCm39) missense possibly damaging 0.88
R7178:Serpini2 UTSW 3 75,165,455 (GRCm39) missense probably damaging 1.00
R8491:Serpini2 UTSW 3 75,159,822 (GRCm39) missense probably damaging 1.00
R9586:Serpini2 UTSW 3 75,166,891 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCAATGGGAAAACATTCAGC -3'
(R):5'- CCATGATTATCTATGTCTCAGCATG -3'

Sequencing Primer
(F):5'- TGGGAAAACATTCAGCCACTCTTTAC -3'
(R):5'- GTCTCAGCATGAAAAATTGGTGAC -3'
Posted On 2015-01-23