Incidental Mutation 'R2094:Serpine2'
ID 231955
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 040098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2094 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 79772038-79836382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79788411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 182 (V182A)
Ref Sequence ENSEMBL: ENSMUSP00000140255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027467] [ENSMUST00000189793] [ENSMUST00000190724]
AlphaFold Q07235
Predicted Effect probably damaging
Transcript: ENSMUST00000027467
AA Change: V182A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027467
Gene: ENSMUSG00000026249
AA Change: V182A

DomainStartEndE-ValueType
SERPIN 36 397 9.93e-152 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153862
Predicted Effect probably damaging
Transcript: ENSMUST00000189793
AA Change: V35A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140065
Gene: ENSMUSG00000026249
AA Change: V35A

DomainStartEndE-ValueType
SERPIN 1 231 2.3e-39 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000190724
AA Change: V182A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140255
Gene: ENSMUSG00000026249
AA Change: V182A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 36 232 7.1e-12 SMART
Meta Mutation Damage Score 0.8045 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,154 (GRCm39) I169V probably benign Het
Arrdc5 A G 17: 56,604,856 (GRCm39) S144P probably benign Het
Astn1 A G 1: 158,495,179 (GRCm39) M92V probably benign Het
Atg5 A G 10: 44,195,544 (GRCm39) I189M probably damaging Het
Atmin A G 8: 117,684,277 (GRCm39) T646A probably damaging Het
Atp1a2 G A 1: 172,115,000 (GRCm39) R262W probably damaging Het
Atp6v1g2 A G 17: 35,455,785 (GRCm39) K16E probably damaging Het
Bex6 G A 16: 32,005,278 (GRCm39) E29K possibly damaging Het
Casd1 A G 6: 4,608,705 (GRCm39) Y101C probably damaging Het
Ccdc168 A C 1: 44,098,890 (GRCm39) I736S probably benign Het
Cdx1 T C 18: 61,168,984 (GRCm39) D70G possibly damaging Het
Cebpz T C 17: 79,242,983 (GRCm39) T224A probably benign Het
Cep170b T C 12: 112,702,164 (GRCm39) V319A possibly damaging Het
Chrna2 C T 14: 66,386,912 (GRCm39) R353W possibly damaging Het
Chst5 A T 8: 112,617,176 (GRCm39) V148E probably benign Het
Clhc1 T A 11: 29,507,771 (GRCm39) W162R probably benign Het
Csmd1 T A 8: 16,129,992 (GRCm39) Q1710L probably damaging Het
Ddb1 A C 19: 10,590,300 (GRCm39) M276L probably benign Het
Dot1l C T 10: 80,621,712 (GRCm39) R455C probably damaging Het
Dync2h1 A G 9: 7,148,735 (GRCm39) V903A probably benign Het
Eno1b T C 18: 48,180,542 (GRCm39) V240A possibly damaging Het
Erich1 T G 8: 14,140,527 (GRCm39) probably benign Het
Ermp1 A C 19: 29,617,328 (GRCm39) S227A probably benign Het
Etv1 C A 12: 38,885,115 (GRCm39) P143Q probably null Het
Gimap8 A T 6: 48,627,502 (GRCm39) I159F probably benign Het
Gpr4 G A 7: 18,956,503 (GRCm39) V142M possibly damaging Het
Gucy1a1 C T 3: 82,020,639 (GRCm39) C86Y probably benign Het
Ifngr2 T G 16: 91,358,667 (GRCm39) probably null Het
Insrr A T 3: 87,710,488 (GRCm39) N398I probably damaging Het
Iws1 A G 18: 32,217,719 (GRCm39) E441G probably damaging Het
Larp7-ps A G 4: 92,079,893 (GRCm39) S32P probably damaging Het
Megf10 A T 18: 57,414,785 (GRCm39) K732* probably null Het
Mprip T A 11: 59,640,334 (GRCm39) probably benign Het
Mrgprb8 T C 7: 48,038,953 (GRCm39) V208A probably benign Het
Msc G C 1: 14,825,908 (GRCm39) P22R probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Or4k15b A T 14: 50,272,171 (GRCm39) S230T probably damaging Het
Oxsr1 A C 9: 119,123,560 (GRCm39) H71Q probably benign Het
Pkp2 T A 16: 16,064,831 (GRCm39) W452R probably damaging Het
Prrc2b C T 2: 32,072,582 (GRCm39) T20I probably damaging Het
Rasgrp3 T C 17: 75,810,136 (GRCm39) S279P probably damaging Het
Rtl1 T A 12: 109,557,831 (GRCm39) D1336V unknown Het
Serpina3m G T 12: 104,355,529 (GRCm39) K65N probably benign Het
Slc10a1 A G 12: 81,002,822 (GRCm39) V272A possibly damaging Het
Slc25a29 A T 12: 108,793,358 (GRCm39) N73K probably damaging Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Srrm2 T C 17: 24,031,403 (GRCm39) probably benign Het
Stk11ip A G 1: 75,502,165 (GRCm39) probably benign Het
Tcerg1 A G 18: 42,697,210 (GRCm39) K767R possibly damaging Het
Tmem82 T C 4: 141,343,598 (GRCm39) K224R probably benign Het
Tmprss11g A G 5: 86,647,415 (GRCm39) L41S probably damaging Het
Trim42 T C 9: 97,248,150 (GRCm39) N182S probably benign Het
Ttn T C 2: 76,660,432 (GRCm39) T7430A probably benign Het
Wwp1 T C 4: 19,650,390 (GRCm39) T259A probably benign 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
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
R6544:Serpine2 UTSW 1 79,780,847 (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'- TGCCTTCCTGCTACTAGTACATTAG -3'
(R):5'- AGTGTGCTTTAGAAATCCAGTTGAG -3'

Sequencing Primer
(F):5'- CTAGTACATTAGAATAGACCTCACCC -3'
(R):5'- CTCAGCTACATAGAGTTTGAGGCC -3'
Posted On 2014-09-18