Incidental Mutation 'R1519:Serpine2'
ID 167239
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, B230326M24Rik, nexin, PN-1, PI7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1519 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 79794197-79861180 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79795031 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 390 (F390L)
Ref Sequence ENSEMBL: ENSMUSP00000027467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027467] [ENSMUST00000189793]
AlphaFold Q07235
Predicted Effect probably damaging
Transcript: ENSMUST00000027467
AA Change: F390L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027467
Gene: ENSMUSG00000026249
AA Change: F390L

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

SERPIN 1 231 2.3e-39 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C G 10: 100,603,528 (GRCm38) P187R probably damaging Het
9230019H11Rik A G 10: 3,125,230 (GRCm38) noncoding transcript Het
9530077C05Rik T G 9: 22,430,375 (GRCm38) L114R probably benign Het
Abhd5 T C 9: 122,379,014 (GRCm38) probably null Het
Acadvl A G 11: 70,014,791 (GRCm38) probably null Het
Actn1 T C 12: 80,205,078 (GRCm38) E75G probably damaging Het
Adam4 A T 12: 81,420,877 (GRCm38) N323K possibly damaging Het
Anks6 G A 4: 47,027,152 (GRCm38) R689W probably damaging Het
Anxa2 T C 9: 69,485,241 (GRCm38) I124T probably damaging Het
Aph1c T C 9: 66,833,265 (GRCm38) T10A probably benign Het
Arhgap40 T A 2: 158,546,801 (GRCm38) W552R probably benign Het
Baz2b C T 2: 59,948,254 (GRCm38) R754H possibly damaging Het
Blmh A G 11: 76,966,781 (GRCm38) Y147C probably damaging Het
C1galt1 C T 6: 7,866,402 (GRCm38) L83F probably damaging Het
Cd163l1 G A 7: 140,228,156 (GRCm38) V747I probably benign Het
Cdh23 A T 10: 60,379,343 (GRCm38) Y1403N possibly damaging Het
Cic A T 7: 25,293,810 (GRCm38) probably null Het
Coro1b T A 19: 4,150,584 (GRCm38) V200D possibly damaging Het
Csl T A 10: 99,757,955 (GRCm38) E416V probably damaging Het
Cyp3a25 A G 5: 146,001,447 (GRCm38) probably null Het
Dennd2d T A 3: 106,492,559 (GRCm38) F266Y probably damaging Het
Dnah10 A G 5: 124,760,952 (GRCm38) E1072G probably damaging Het
Dnah6 T A 6: 73,049,048 (GRCm38) K3435N probably damaging Het
Dnah9 G A 11: 65,881,761 (GRCm38) A3715V probably damaging Het
Fam186a G A 15: 99,947,655 (GRCm38) S236L unknown Het
Fam198b A G 3: 79,941,464 (GRCm38) N506D possibly damaging Het
Frs3 A G 17: 47,702,978 (GRCm38) T199A probably benign Het
Fsd1 A G 17: 55,993,870 (GRCm38) N243S probably benign Het
Gabra5 A C 7: 57,408,893 (GRCm38) L369R probably benign Het
Gins4 A G 8: 23,234,776 (GRCm38) V54A probably benign Het
Gli1 T C 10: 127,334,269 (GRCm38) E339G possibly damaging Het
Gm12185 A G 11: 48,907,767 (GRCm38) V633A probably damaging Het
Gm8251 A G 1: 44,056,970 (GRCm38) V1656A probably benign Het
Gm8765 G A 13: 50,700,407 (GRCm38) probably null Het
Gpr83 T A 9: 14,868,197 (GRCm38) C182S probably null Het
Gspt1 A G 16: 11,220,855 (GRCm38) V627A probably damaging Het
Heatr1 T C 13: 12,412,159 (GRCm38) C722R probably benign Het
Jak1 C T 4: 101,162,922 (GRCm38) R680Q probably damaging Het
Kif2c A G 4: 117,169,940 (GRCm38) V287A probably damaging Het
Kmo A G 1: 175,656,802 (GRCm38) E366G probably damaging Het
Kmo C T 1: 175,651,618 (GRCm38) P240L possibly damaging Het
Lepr A T 4: 101,789,344 (GRCm38) N824I probably damaging Het
Lyrm7 T A 11: 54,848,599 (GRCm38) H75L possibly damaging Het
Map4k1 A T 7: 28,991,036 (GRCm38) Q351L probably benign Het
Mgam T C 6: 40,661,683 (GRCm38) I450T probably benign Het
Nbeal2 A G 9: 110,636,305 (GRCm38) L955P probably damaging Het
Nlrp9c T C 7: 26,378,101 (GRCm38) K752R possibly damaging Het
Nsmaf A T 4: 6,438,062 (GRCm38) I70K probably benign Het
Olfr201 C T 16: 59,268,944 (GRCm38) C241Y probably damaging Het
Olfr298 A G 7: 86,489,125 (GRCm38) M142T probably damaging Het
Otud7a A G 7: 63,758,643 (GRCm38) Y898C probably damaging Het
Pcdhb18 A C 18: 37,490,892 (GRCm38) D425A probably damaging Het
Prdm1 A T 10: 44,439,986 (GRCm38) L733* probably null Het
Prdm2 A T 4: 143,135,583 (GRCm38) I379N probably damaging Het
Ptprg A T 14: 12,220,596 (GRCm38) Y436F probably damaging Het
Riok3 A G 18: 12,137,306 (GRCm38) D167G probably damaging Het
Rnf215 G T 11: 4,135,451 (GRCm38) R60L probably damaging Het
Sdk1 A T 5: 141,999,950 (GRCm38) H779L probably benign Het
Sh3d21 T A 4: 126,151,726 (GRCm38) K387* probably null Het
Slc13a2 T C 11: 78,397,746 (GRCm38) Y568C possibly damaging Het
Slc27a5 T C 7: 12,988,459 (GRCm38) probably null Het
Slc32a1 T C 2: 158,614,577 (GRCm38) L384P probably damaging Het
Sorcs1 T C 19: 50,252,587 (GRCm38) N454D probably benign Het
Spag8 T C 4: 43,652,777 (GRCm38) Y228C possibly damaging Het
Spc25 T C 2: 69,200,087 (GRCm38) I71V probably damaging Het
Tcte1 T A 17: 45,535,252 (GRCm38) F261I probably damaging Het
Thsd7a T A 6: 12,471,175 (GRCm38) K481N probably benign Het
Tll2 G T 19: 41,086,400 (GRCm38) N908K probably benign Het
Tmem236 T C 2: 14,192,280 (GRCm38) V93A probably benign Het
Top2b G A 14: 16,408,953 (GRCm38) probably null Het
Topaz1 G A 9: 122,767,011 (GRCm38) S949N probably benign Het
Triobp A G 15: 78,973,738 (GRCm38) T1180A probably benign Het
Trip11 A C 12: 101,886,160 (GRCm38) D548E probably benign Het
Trpv2 T A 11: 62,589,826 (GRCm38) probably null Het
Vmn1r12 T A 6: 57,159,555 (GRCm38) H212Q probably damaging Het
Vmn2r112 A G 17: 22,618,903 (GRCm38) T782A possibly damaging Het
Vmn2r7 A G 3: 64,716,455 (GRCm38) V239A possibly damaging Het
Vmn2r80 T A 10: 79,194,219 (GRCm38) N626K probably damaging Het
Vmn2r99 A G 17: 19,380,060 (GRCm38) S449G probably benign Het
Wfikkn2 T C 11: 94,238,107 (GRCm38) T403A probably benign Het
Xirp2 A G 2: 67,515,679 (GRCm38) I2755V probably benign Het
Yjefn3 A G 8: 69,889,079 (GRCm38) V153A probably benign Het
Zfp677 C A 17: 21,397,237 (GRCm38) H185Q possibly damaging Het
Zfp947 C T 17: 22,146,292 (GRCm38) V134I probably benign Het
Other mutations in Serpine2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Serpine2 APN 1 79,810,694 (GRCm38) missense probably damaging 0.98
IGL01386:Serpine2 APN 1 79,801,551 (GRCm38) missense probably damaging 0.97
IGL02069:Serpine2 APN 1 79,821,412 (GRCm38) missense possibly damaging 0.94
IGL02516:Serpine2 APN 1 79,794,997 (GRCm38) unclassified probably benign
IGL02743:Serpine2 APN 1 79,801,555 (GRCm38) missense probably damaging 1.00
R0372:Serpine2 UTSW 1 79,821,430 (GRCm38) missense probably damaging 0.98
R1768:Serpine2 UTSW 1 79,816,815 (GRCm38) missense probably damaging 1.00
R1993:Serpine2 UTSW 1 79,821,442 (GRCm38) missense probably damaging 1.00
R1995:Serpine2 UTSW 1 79,821,442 (GRCm38) missense probably damaging 1.00
R2034:Serpine2 UTSW 1 79,796,852 (GRCm38) missense probably damaging 1.00
R2094:Serpine2 UTSW 1 79,810,694 (GRCm38) missense probably damaging 0.98
R2311:Serpine2 UTSW 1 79,810,548 (GRCm38) splice site probably benign
R2312:Serpine2 UTSW 1 79,802,853 (GRCm38) missense probably damaging 1.00
R2519:Serpine2 UTSW 1 79,799,539 (GRCm38) missense possibly damaging 0.55
R4844:Serpine2 UTSW 1 79,799,524 (GRCm38) nonsense probably null
R5141:Serpine2 UTSW 1 79,802,863 (GRCm38) missense possibly damaging 0.92
R5386:Serpine2 UTSW 1 79,821,287 (GRCm38) nonsense probably null
R5422:Serpine2 UTSW 1 79,821,489 (GRCm38) missense probably benign 0.10
R5422:Serpine2 UTSW 1 79,816,875 (GRCm38) missense probably benign 0.03
R5786:Serpine2 UTSW 1 79,816,920 (GRCm38) missense probably benign 0.02
R5794:Serpine2 UTSW 1 79,821,439 (GRCm38) missense probably benign
R6109:Serpine2 UTSW 1 79,810,671 (GRCm38) missense probably damaging 1.00
R6514:Serpine2 UTSW 1 79,821,570 (GRCm38) splice site probably null
R6544:Serpine2 UTSW 1 79,803,130 (GRCm38) splice site probably null
R7001:Serpine2 UTSW 1 79,795,031 (GRCm38) missense probably damaging 1.00
R7395:Serpine2 UTSW 1 79,801,555 (GRCm38) missense probably damaging 1.00
R7660:Serpine2 UTSW 1 79,802,905 (GRCm38) missense probably benign 0.07
R7844:Serpine2 UTSW 1 79,816,799 (GRCm38) missense probably benign
R8873:Serpine2 UTSW 1 79,821,550 (GRCm38) start gained probably benign
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- ctgtcctcaactcagctcc -3'
Posted On 2014-04-13