Incidental Mutation 'R8491:Serpini2'
ID 657979
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 067933-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R8491 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 75149677-75177385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 75159822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 315 (C315G)
Ref Sequence ENSEMBL: ENSMUSP00000046943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039047]
AlphaFold Q9JK88
Predicted Effect probably damaging
Transcript: ENSMUST00000039047
AA Change: C315G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139
AA Change: C315G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 31 392 8.75e-130 SMART
Meta Mutation Damage Score 0.1702 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aard A T 15: 51,903,708 (GRCm39) I44F unknown Het
Agap1 A G 1: 89,537,294 (GRCm39) E100G probably damaging Het
Aoc3 G T 11: 101,223,042 (GRCm39) R426L probably benign Het
Aspm T G 1: 139,385,433 (GRCm39) L359R probably damaging Het
Atp8b2 A G 3: 89,865,676 (GRCm39) S75P probably damaging Het
Bcl9l A G 9: 44,412,065 (GRCm39) E17G probably benign Het
Casc3 G T 11: 98,713,977 (GRCm39) R403L probably benign Het
Cdh16 T C 8: 105,343,681 (GRCm39) D605G probably damaging Het
Cdh2 A G 18: 16,757,775 (GRCm39) probably null Het
Cers5 T A 15: 99,638,831 (GRCm39) K161N probably damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cntnap3 A T 13: 64,933,157 (GRCm39) D454E probably damaging Het
Cxcl15 T A 5: 90,943,089 (GRCm39) C30* probably null Het
Cyp4a12a C A 4: 115,158,650 (GRCm39) probably null Het
Dlc1 A T 8: 37,052,000 (GRCm39) I577N probably benign Het
Dusp6 C A 10: 99,102,081 (GRCm39) R210S possibly damaging Het
Faxc T A 4: 21,993,319 (GRCm39) M321K probably damaging Het
Fez2 C A 17: 78,692,200 (GRCm39) V340L probably benign Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gdnf A G 15: 7,864,272 (GRCm39) I228V possibly damaging Het
Gm12258 A G 11: 58,745,122 (GRCm39) T18A Het
Gm5460 T C 14: 33,761,740 (GRCm39) L194P probably damaging Het
Gm6040 T G 8: 21,407,135 (GRCm39) R28S possibly damaging Het
Gmps A G 3: 63,921,779 (GRCm39) E594G probably benign Het
Hspg2 T C 4: 137,281,030 (GRCm39) V3334A probably benign Het
Idh3a T C 9: 54,506,963 (GRCm39) probably null Het
Ins1 A G 19: 52,252,808 (GRCm39) probably benign Het
Mug1 A T 6: 121,859,688 (GRCm39) D1229V probably damaging Het
Ndufs1 T C 1: 63,196,384 (GRCm39) D347G probably damaging Het
Or52d3 G A 7: 104,229,242 (GRCm39) V130I probably damaging Het
Or8k25 A G 2: 86,244,099 (GRCm39) I99T probably benign Het
Pclo C A 5: 14,565,244 (GRCm39) N3K unknown Het
Pigl A G 11: 62,364,293 (GRCm39) R112G probably null Het
Prkcq T C 2: 11,284,335 (GRCm39) Y502H probably damaging Het
Psg16 T C 7: 16,824,437 (GRCm39) Y74H probably damaging Het
Psme4 G A 11: 30,722,161 (GRCm39) G60D possibly damaging Het
Rpp14 A T 14: 8,083,925 (GRCm38) Q27L possibly damaging Het
Slitrk3 A G 3: 72,958,592 (GRCm39) I60T possibly damaging Het
Svil T C 18: 5,106,678 (GRCm39) Y1436H probably damaging Het
Tmem245 T C 4: 56,906,261 (GRCm39) Q548R probably benign Het
Tob1 A G 11: 94,105,115 (GRCm39) D217G probably benign Het
Trim21 A C 7: 102,208,689 (GRCm39) D343E probably benign Het
Triobp C T 15: 78,878,326 (GRCm39) H1750Y possibly damaging Het
Trmt13 T C 3: 116,376,228 (GRCm39) R388G probably benign Het
Ubqlnl A G 7: 103,798,582 (GRCm39) V305A probably benign Het
Ushbp1 A G 8: 71,845,041 (GRCm39) V244A probably benign Het
Vdac2 T A 14: 21,887,838 (GRCm39) N60K possibly damaging Het
Vwa5a A G 9: 38,652,476 (GRCm39) E753G probably damaging Het
Washc4 A G 10: 83,411,987 (GRCm39) D706G probably benign Het
Zbtb5 T C 4: 44,995,090 (GRCm39) D98G probably damaging Het
Zfp53 A G 17: 21,729,621 (GRCm39) I551M probably benign Het
Zfp958 G T 8: 4,676,215 (GRCm39) R61I probably damaging 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
R2886:Serpini2 UTSW 3 75,166,921 (GRCm39) missense probably damaging 1.00
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
R9586:Serpini2 UTSW 3 75,166,891 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGAAAACTAGTTGTCCATCTGGG -3'
(R):5'- GCTGGTGAAAGCCAAATATTCAC -3'

Sequencing Primer
(F):5'- GTTTCTTATCTGGCAGATACAATGC -3'
(R):5'- CACAGTATAAGCTTTTCCAAGTCATC -3'
Posted On 2021-01-18