Incidental Mutation 'R6544:Serpine2'
ID 520978
Institutional Source Beutler Lab
Gene Symbol Serpine2
Ensembl Gene ENSMUSG00000026249
Gene Name serine (or cysteine) peptidase inhibitor, clade E, member 2
Synonyms protease nexin 1, Spi4, PN-1, PI7, B230326M24Rik, nexin
MMRRC Submission 044670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6544 (G1)
Quality Score 180.009
Status Validated
Chromosome 1
Chromosomal Location 79772038-79836382 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 79780847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027467] [ENSMUST00000189793] [ENSMUST00000190724]
AlphaFold Q07235
Predicted Effect probably null
Transcript: ENSMUST00000027467
SMART Domains Protein: ENSMUSP00000027467
Gene: ENSMUSG00000026249

DomainStartEndE-ValueType
SERPIN 36 397 9.93e-152 SMART
Predicted Effect probably null
Transcript: ENSMUST00000189793
SMART Domains Protein: ENSMUSP00000140065
Gene: ENSMUSG00000026249

DomainStartEndE-ValueType
SERPIN 1 231 2.3e-39 SMART
Predicted Effect probably null
Transcript: ENSMUST00000190724
SMART Domains Protein: ENSMUSP00000140255
Gene: ENSMUSG00000026249

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 36 232 7.1e-12 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a targeted mutation of this gene are viable and healthy but develop epileptic activity as well as reduced theta burst-induced LTP and NMDA receptor-mediated synaptic transmission in the CA1 field of the hippocampus; notably, homozygous mutant males are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005K14Rik T A 1: 83,036,678 (GRCm39) K118* probably null Het
Actr2 A G 11: 20,050,933 (GRCm39) F17L probably damaging Het
Adam26b T C 8: 43,974,818 (GRCm39) I61M probably damaging Het
Ahcyl A C 16: 45,975,147 (GRCm39) S77A probably benign Het
Ahnak2 A G 12: 112,746,829 (GRCm39) probably benign Het
Angptl3 T C 4: 98,919,675 (GRCm39) L145P probably damaging Het
Ank2 T C 3: 126,726,871 (GRCm39) T808A probably damaging Het
Ark2c T A 18: 77,650,931 (GRCm39) probably benign Het
Cadm3 A G 1: 173,194,977 (GRCm39) probably null Het
Cog7 C T 7: 121,534,966 (GRCm39) R573Q probably damaging Het
Dchs1 T A 7: 105,407,385 (GRCm39) I2110F probably damaging Het
Fbxo47 G A 11: 97,747,089 (GRCm39) R326C probably damaging Het
Frmpd1 A T 4: 45,279,024 (GRCm39) D583V probably damaging Het
Gigyf1 T A 5: 137,523,321 (GRCm39) L911Q probably damaging Het
Gprin1 G A 13: 54,888,124 (GRCm39) A50V possibly damaging Het
Grik4 A T 9: 42,459,024 (GRCm39) Y571* probably null Het
Gucy2e A G 11: 69,126,483 (GRCm39) V299A probably benign Het
Hectd2 C T 19: 36,589,728 (GRCm39) L618F probably damaging Het
Lactbl1 A T 4: 136,360,300 (GRCm39) I160F possibly damaging Het
Lats1 T A 10: 7,577,434 (GRCm39) V186D possibly damaging Het
Lmtk2 A G 5: 144,110,624 (GRCm39) H448R possibly damaging Het
Map10 T C 8: 126,398,113 (GRCm39) I502T probably benign Het
Mok A G 12: 110,777,189 (GRCm39) F239S probably damaging Het
Mprip G A 11: 59,648,552 (GRCm39) G752D probably benign Het
Naip5 C A 13: 100,359,652 (GRCm39) G528V possibly damaging Het
Neu2 T C 1: 87,524,464 (GRCm39) W150R probably damaging Het
Or1ak2 T A 2: 36,827,539 (GRCm39) M136K possibly damaging Het
Or5an1 T C 19: 12,260,519 (GRCm39) Y36H probably damaging Het
Or5as1 T A 2: 86,980,207 (GRCm39) Y266F probably damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Pip5k1c T A 10: 81,144,830 (GRCm39) Y224N probably damaging Het
Plch1 T C 3: 63,758,399 (GRCm39) E5G probably damaging Het
Pspc1 T C 14: 57,001,660 (GRCm39) *59W probably null Het
Ptprq T C 10: 107,444,102 (GRCm39) T1501A probably damaging Het
Rorb G T 19: 18,929,614 (GRCm39) P304T possibly damaging Het
Scn7a A T 2: 66,514,444 (GRCm39) L1110Q probably damaging Het
Slco1c1 A G 6: 141,477,170 (GRCm39) probably null Het
Smarca2 T A 19: 26,608,331 (GRCm39) V130D probably damaging Het
Sox17 G T 1: 4,562,655 (GRCm39) P117T possibly damaging Het
Sparcl1 A T 5: 104,240,310 (GRCm39) Y371* probably null Het
Tdpoz2 T C 3: 93,559,267 (GRCm39) D235G possibly damaging Het
Tns2 A C 15: 102,022,269 (GRCm39) K1182N possibly damaging Het
Tpte G T 8: 22,805,121 (GRCm39) probably null Het
Ttn A T 2: 76,799,503 (GRCm39) I459K possibly damaging Het
Wdr97 T C 15: 76,242,478 (GRCm39) Y823H probably benign Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp455 C A 13: 67,355,121 (GRCm39) L130I probably benign Het
Zfp777 A T 6: 48,021,419 (GRCm39) S68T probably damaging Het
Other mutations in Serpine2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Serpine2 APN 1 79,788,411 (GRCm39) missense probably damaging 0.98
IGL01386:Serpine2 APN 1 79,779,268 (GRCm39) missense probably damaging 0.97
IGL02069:Serpine2 APN 1 79,799,129 (GRCm39) missense possibly damaging 0.94
IGL02516:Serpine2 APN 1 79,772,714 (GRCm39) unclassified probably benign
IGL02743:Serpine2 APN 1 79,779,272 (GRCm39) missense probably damaging 1.00
R0372:Serpine2 UTSW 1 79,799,147 (GRCm39) missense probably damaging 0.98
R1519:Serpine2 UTSW 1 79,772,748 (GRCm39) missense probably damaging 1.00
R1768:Serpine2 UTSW 1 79,794,532 (GRCm39) missense probably damaging 1.00
R1993:Serpine2 UTSW 1 79,799,159 (GRCm39) missense probably damaging 1.00
R1995:Serpine2 UTSW 1 79,799,159 (GRCm39) missense probably damaging 1.00
R2034:Serpine2 UTSW 1 79,774,569 (GRCm39) missense probably damaging 1.00
R2094:Serpine2 UTSW 1 79,788,411 (GRCm39) missense probably damaging 0.98
R2311:Serpine2 UTSW 1 79,788,265 (GRCm39) splice site probably benign
R2312:Serpine2 UTSW 1 79,780,570 (GRCm39) missense probably damaging 1.00
R2519:Serpine2 UTSW 1 79,777,256 (GRCm39) missense possibly damaging 0.55
R4844:Serpine2 UTSW 1 79,777,241 (GRCm39) nonsense probably null
R5141:Serpine2 UTSW 1 79,780,580 (GRCm39) missense possibly damaging 0.92
R5386:Serpine2 UTSW 1 79,799,004 (GRCm39) nonsense probably null
R5422:Serpine2 UTSW 1 79,799,206 (GRCm39) missense probably benign 0.10
R5422:Serpine2 UTSW 1 79,794,592 (GRCm39) missense probably benign 0.03
R5786:Serpine2 UTSW 1 79,794,637 (GRCm39) missense probably benign 0.02
R5794:Serpine2 UTSW 1 79,799,156 (GRCm39) missense probably benign
R6109:Serpine2 UTSW 1 79,788,388 (GRCm39) missense probably damaging 1.00
R6514:Serpine2 UTSW 1 79,799,287 (GRCm39) splice site probably null
R7001:Serpine2 UTSW 1 79,772,748 (GRCm39) missense probably damaging 1.00
R7395:Serpine2 UTSW 1 79,779,272 (GRCm39) missense probably damaging 1.00
R7660:Serpine2 UTSW 1 79,780,622 (GRCm39) missense probably benign 0.07
R7844:Serpine2 UTSW 1 79,794,516 (GRCm39) missense probably benign
R8873:Serpine2 UTSW 1 79,799,267 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AGCTGCATCCTCTTGGGTAC -3'
(R):5'- TTCAACTCAGCAGAATGAAAGTGAG -3'

Sequencing Primer
(F):5'- CATGGTGTTCATCCAGCTATCAATGG -3'
(R):5'- AAGTGAGCTTAGCGGTGCC -3'
Posted On 2018-06-06