Incidental Mutation 'R2435:Serpini2'
ID 249534
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 040396-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R2435 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 75149677-75177385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75165475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 168 (E168G)
Ref Sequence ENSEMBL: ENSMUSP00000046943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039047]
AlphaFold Q9JK88
Predicted Effect probably benign
Transcript: ENSMUST00000039047
AA Change: E168G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139
AA Change: E168G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 31 392 8.75e-130 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,898,294 (GRCm39) T226I probably benign Het
Acvr1 T C 2: 58,369,704 (GRCm39) N102D probably damaging Het
Cd34 T A 1: 194,621,334 (GRCm39) C21S probably damaging Het
Cdh18 C T 15: 23,367,094 (GRCm39) R267W probably damaging Het
Ckap5 T A 2: 91,411,490 (GRCm39) N966K probably benign Het
Clec4e A G 6: 123,265,855 (GRCm39) V44A probably damaging Het
Cubn T A 2: 13,323,083 (GRCm39) N2828I probably damaging Het
Dnah10 G T 5: 124,839,929 (GRCm39) probably null Het
Fshr A T 17: 89,508,024 (GRCm39) V6D unknown Het
Gcc2 A G 10: 58,130,602 (GRCm39) D1398G probably damaging Het
Gpi1 G A 7: 33,905,254 (GRCm39) A390V probably damaging Het
Gypa G T 8: 81,233,397 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Ifna13 T A 4: 88,562,366 (GRCm39) Q86L probably damaging Het
Itgae T A 11: 73,012,763 (GRCm39) C698* probably null Het
Ivns1abp T C 1: 151,239,061 (GRCm39) V625A probably benign Het
Kcnh2 A G 5: 24,531,345 (GRCm39) probably null Het
Kcnj6 G A 16: 94,563,538 (GRCm39) T320M probably damaging Het
Mblac2 T C 13: 81,898,368 (GRCm39) I248T probably damaging Het
Muc5ac A T 7: 141,371,841 (GRCm39) Y2647F possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or4k15 T C 14: 50,364,211 (GRCm39) M59T probably damaging Het
Or6c217 G T 10: 129,738,173 (GRCm39) N135K possibly damaging Het
Pard3b T A 1: 62,626,897 (GRCm39) V1059E probably damaging Het
Pkd1l3 A C 8: 110,377,334 (GRCm39) I1585L probably benign Het
Pramel31 A T 4: 144,089,473 (GRCm39) I264F possibly damaging Het
Prrc2b A T 2: 32,109,741 (GRCm39) S1791C probably damaging Het
Rbmxl2 C A 7: 106,809,538 (GRCm39) S274R probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sis A G 3: 72,819,237 (GRCm39) S1440P probably benign Het
Snrnp40 A G 4: 130,278,344 (GRCm39) H283R probably damaging Het
Tcaf2 G T 6: 42,607,298 (GRCm39) Q219K possibly damaging Het
Tenm3 C T 8: 48,740,988 (GRCm39) R803H probably damaging Het
Ugt2b5 T C 5: 87,287,465 (GRCm39) D234G probably damaging Het
Unc13d A G 11: 115,959,514 (GRCm39) F653S probably damaging Het
Unc93b1 A G 19: 3,986,373 (GRCm39) I136V possibly damaging Het
Utp20 A G 10: 88,656,753 (GRCm39) S151P possibly damaging Het
Vmn2r50 C A 7: 9,787,026 (GRCm39) W27L probably benign Het
Zan T C 5: 137,436,836 (GRCm39) S2006G unknown 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
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
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'- CCAAAACTTGACATGTCATGGATG -3'
(R):5'- TGCTCTTACAGTTGCCAAAGC -3'

Sequencing Primer
(F):5'- AGTTTCTCACATTACCATATTGTGC -3'
(R):5'- GCTCTTACAGTTGCCAAAGCTAGATG -3'
Posted On 2014-11-12