Incidental Mutation 'IGL03398:Serpini2'
ID 421321
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpini2
Ensembl Gene ENSMUSG00000034139
Gene Name serine (or cysteine) peptidase inhibitor, clade I, member 2
Synonyms 1810006A24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL03398
Quality Score
Chromosome 3
Chromosomal Location 75149677-75177385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75166852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 135 (T135I)
Ref Sequence ENSEMBL: ENSMUSP00000046943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039047]
AlphaFold Q9JK88
Predicted Effect probably benign
Transcript: ENSMUST00000039047
AA Change: T135I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139
AA Change: T135I

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 77,039,566 (GRCm39) I248L probably benign Het
Ackr2 C T 9: 121,737,654 (GRCm39) L10F probably damaging Het
Ankhd1 A G 18: 36,789,890 (GRCm39) probably benign Het
Arhgap5 A G 12: 52,564,094 (GRCm39) E355G probably damaging Het
Arhgef12 A G 9: 42,889,522 (GRCm39) V1031A probably damaging Het
Ash1l T A 3: 88,914,527 (GRCm39) V1719E probably benign Het
Chd5 A G 4: 152,461,539 (GRCm39) N1284D probably damaging Het
Dennd4a A G 9: 64,779,164 (GRCm39) D549G probably benign Het
Dhx32 A G 7: 133,361,254 (GRCm39) Y60H probably damaging Het
Elapor1 A T 3: 108,368,537 (GRCm39) V818D possibly damaging Het
Fcamr A G 1: 130,730,985 (GRCm39) I79M probably damaging Het
Filip1 A G 9: 79,726,225 (GRCm39) V798A probably benign Het
Ifi208 A C 1: 173,510,817 (GRCm39) N324T probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nsl1 T C 1: 190,814,361 (GRCm39) probably benign Het
Parp6 T C 9: 59,548,336 (GRCm39) I483T probably damaging Het
Ppp2r5e A C 12: 75,509,179 (GRCm39) W367G possibly damaging Het
Pramel31 A G 4: 144,090,061 (GRCm39) D367G probably damaging Het
Sgsm1 T A 5: 113,403,182 (GRCm39) N955I possibly damaging Het
Tenm2 A G 11: 35,915,370 (GRCm39) Y2055H probably damaging Het
Tex2 T C 11: 106,459,098 (GRCm39) N111D probably damaging Het
Ttc5 T C 14: 51,018,964 (GRCm39) E51G possibly damaging Het
Usp47 A T 7: 111,673,710 (GRCm39) E334V probably damaging Het
Wdfy4 T C 14: 32,769,247 (GRCm39) K2227E probably benign Het
Xkr4 T C 1: 3,286,798 (GRCm39) E464G 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
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
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
Posted On 2016-08-02