Incidental Mutation 'IGL00091:Serpini2'
ID1784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpini2
Ensembl Gene ENSMUSG00000034139
Gene Nameserine (or cysteine) peptidase inhibitor, clade I, member 2
Synonyms1810006A24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL00091
Quality Score
Status
Chromosome3
Chromosomal Location75242370-75270078 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75249242 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 327 (Y327C)
Ref Sequence ENSEMBL: ENSMUSP00000046943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039047]
Predicted Effect probably damaging
Transcript: ENSMUST00000039047
AA Change: Y327C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139
AA Change: Y327C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 31 392 8.75e-130 SMART
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,883,428 Y400F probably benign Het
Adamts8 C A 9: 30,953,500 T429K probably damaging Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Ano7 A T 1: 93,402,166 H775L probably benign Het
Apoo-ps A T 13: 107,414,634 noncoding transcript Het
Arid2 T C 15: 96,372,302 V1432A probably benign Het
Atoh1 T C 6: 64,729,584 S88P possibly damaging Het
C130050O18Rik A G 5: 139,414,846 E218G probably damaging Het
Cacna2d1 T A 5: 16,212,944 F155L probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cyp1a2 G T 9: 57,682,069 S154* probably null Het
Cyp3a25 A T 5: 146,001,463 Y68* probably null Het
Dmbt1 C A 7: 131,079,540 probably benign Het
Dnajc22 T A 15: 99,101,178 F81L possibly damaging Het
Eml5 G A 12: 98,873,209 probably benign Het
Fpgs A T 2: 32,686,547 probably benign Het
Gab2 T C 7: 97,302,443 S537P possibly damaging Het
Gmds G A 13: 32,234,390 S37L probably damaging Het
Ipo13 T C 4: 117,903,405 E626G probably benign Het
Kcng1 T C 2: 168,268,764 H160R probably benign Het
Lama3 A G 18: 12,580,292 T1608A probably benign Het
Lama4 A C 10: 39,072,805 S855R probably damaging Het
Ltbp1 C T 17: 75,225,338 H454Y probably damaging Het
Map3k14 C A 11: 103,227,579 G594C probably damaging Het
Mcph1 A G 8: 18,632,620 N591S possibly damaging Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Mptx2 T G 1: 173,274,888 N78T probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Nup50 T A 15: 84,935,404 F293Y probably benign Het
Ogn A G 13: 49,621,038 Y219C probably damaging Het
Pdia3 T C 2: 121,414,178 L47P probably damaging Het
Piwil4 A T 9: 14,703,097 D786E probably damaging Het
Pspc1 A G 14: 56,771,711 L222P probably damaging Het
Ptchd3 T A 11: 121,831,146 Y282N probably damaging Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Spire2 A G 8: 123,354,059 D14G probably damaging Het
Stab2 A T 10: 86,869,206 probably null Het
Timeless T C 10: 128,241,708 L219P probably damaging Het
Tmem63a C T 1: 180,963,088 T437M probably damaging Het
Tslp A G 18: 32,815,395 probably benign Het
Ttbk2 C A 2: 120,748,833 G534* probably null Het
Uggt1 T C 1: 36,179,552 probably benign Het
Vmn2r118 T C 17: 55,592,708 E732G probably damaging Het
Zfhx2 G A 14: 55,066,565 P1321S possibly damaging Het
Zfp58 A G 13: 67,490,995 V459A probably benign Het
Zfp831 T C 2: 174,645,658 S709P possibly damaging Het
Other mutations in Serpini2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Serpini2 APN 3 75267809 missense possibly damaging 0.70
IGL03398:Serpini2 APN 3 75259545 missense probably benign 0.00
R0271:Serpini2 UTSW 3 75246578 missense probably damaging 1.00
R0545:Serpini2 UTSW 3 75258138 missense probably benign 0.04
R2309:Serpini2 UTSW 3 75259690 missense probably damaging 0.99
R2435:Serpini2 UTSW 3 75258168 missense probably benign 0.00
R2886:Serpini2 UTSW 3 75259614 missense probably damaging 1.00
R5054:Serpini2 UTSW 3 75259477 missense probably damaging 1.00
R5151:Serpini2 UTSW 3 75246513 missense possibly damaging 0.93
R5554:Serpini2 UTSW 3 75267988 start gained probably benign
R5614:Serpini2 UTSW 3 75257707 intron probably benign
R6413:Serpini2 UTSW 3 75259614 missense probably damaging 1.00
R6510:Serpini2 UTSW 3 75252568 missense probably damaging 0.97
R6688:Serpini2 UTSW 3 75259563 missense possibly damaging 0.88
R7178:Serpini2 UTSW 3 75258148 missense probably damaging 1.00
Posted On2011-07-12