Mutagenetix > Incidental Mutation

Incidental Mutation 'R5141:Serpine2'

396434

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

042727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79772038-79836382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79780580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 290 (Q290K)

Ref Sequence

ENSEMBL: ENSMUSP00000027467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027467] [ENSMUST00000189793] [ENSMUST00000190724]

AlphaFold

Q07235

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027467
AA Change: Q290K

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027467
Gene: ENSMUSG00000026249
AA Change: Q290K

Domain	Start	End	E-Value	Type
SERPIN	36	397	9.93e-152	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189793
AA Change: Q143K

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140065
Gene: ENSMUSG00000026249
AA Change: Q143K

Domain	Start	End	E-Value	Type
SERPIN	1	231	2.3e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190724

SMART Domains

Protein: ENSMUSP00000140255
Gene: ENSMUSG00000026249

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SERPIN	36	232	7.1e-12	SMART

Meta Mutation Damage Score

0.1169

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (76/79)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,810,577 (GRCm39)	V193A	probably benign	Het
Adamts18	T	A	8: 114,501,902 (GRCm39)	T320S	probably damaging	Het
Adamtsl1	G	T	4: 86,075,087 (GRCm39)	M151I	possibly damaging	Het
Adgrv1	A	T	13: 81,419,037 (GRCm39)	V5986E	probably damaging	Het
Aifm3	A	G	16: 17,317,586 (GRCm39)	E69G	probably damaging	Het
Akap13	C	A	7: 75,259,362 (GRCm39)	T662K	probably benign	Het
Alms1	A	G	6: 85,598,414 (GRCm39)	D1080G	probably benign	Het
Als2	T	C	1: 59,209,611 (GRCm39)	E1457G	possibly damaging	Het
Apobec4	A	G	1: 152,631,964 (GRCm39)		probably benign	Het
Apoo-ps	C	T	13: 107,550,895 (GRCm39)		noncoding transcript	Het
Aspscr1	G	A	11: 120,580,003 (GRCm39)	V181I	probably benign	Het
Atrn	T	C	2: 130,841,050 (GRCm39)		probably benign	Het
C3	T	A	17: 57,526,570 (GRCm39)	I804F	probably damaging	Het
Cbfa2t3	C	T	8: 123,361,760 (GRCm39)	G421R	probably benign	Het
Chmp4c	A	G	3: 10,432,213 (GRCm39)	E41G	probably damaging	Het
Clk4	T	A	11: 51,166,598 (GRCm39)	F96L	possibly damaging	Het
Ctsg	G	A	14: 56,339,184 (GRCm39)	R25*	probably null	Het
Cul1	A	G	6: 47,497,773 (GRCm39)	D618G	probably benign	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dip2a	G	A	10: 76,106,287 (GRCm39)	T1326I	probably damaging	Het
Etnk2	A	G	1: 133,296,600 (GRCm39)	I210V	probably benign	Het
Gm5773	T	A	3: 93,681,034 (GRCm39)	D235E	probably benign	Het
Gm7353	T	C	7: 3,161,001 (GRCm39)		noncoding transcript	Het
Gpi1	G	A	7: 33,926,521 (GRCm39)		probably benign	Het
Ing4	T	C	6: 125,016,837 (GRCm39)	M5T	probably benign	Het
Inpp4a	A	G	1: 37,419,168 (GRCm39)	I583V	probably benign	Het
Isyna1	T	C	8: 71,047,543 (GRCm39)	V64A	probably damaging	Het
Katnal2	T	A	18: 77,085,337 (GRCm39)	D310V	probably damaging	Het
Kbtbd8	A	G	6: 95,098,820 (GRCm39)	T126A	probably damaging	Het
Kif13a	T	C	13: 46,906,197 (GRCm39)	D582G	probably benign	Het
Lmf2	G	A	15: 89,235,810 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,382,693 (GRCm39)		probably null	Het
Lrp4	T	C	2: 91,309,023 (GRCm39)		probably benign	Het
Lyzl1	A	C	18: 4,169,209 (GRCm39)	D71A	possibly damaging	Het
Mak	C	T	13: 41,186,039 (GRCm39)	C543Y	possibly damaging	Het
Mapk8ip1	T	C	2: 92,217,110 (GRCm39)	D404G	probably damaging	Het
Mdga1	C	T	17: 30,071,467 (GRCm39)	E385K	probably benign	Het
Mst1r	T	A	9: 107,789,440 (GRCm39)	I573N	probably damaging	Het
Muc5ac	T	A	7: 141,368,479 (GRCm39)	N2365K	possibly damaging	Het
Ncan	T	C	8: 70,565,487 (GRCm39)	E179G	probably damaging	Het
Nlgn2	C	T	11: 69,716,216 (GRCm39)	R775H	probably damaging	Het
Or10d5	T	G	9: 39,861,170 (GRCm39)	K299T	probably benign	Het
Or4c122	A	C	2: 89,079,473 (GRCm39)	Y176*	probably null	Het
Or8g20	A	G	9: 39,395,827 (GRCm39)	F238L	probably damaging	Het
Pcolce	G	T	5: 137,604,012 (GRCm39)	Q352K	probably benign	Het
Peg3	G	T	7: 6,712,381 (GRCm39)	T947N	probably benign	Het
Pld3	C	T	7: 27,233,220 (GRCm39)	D344N	probably damaging	Het
Plec	A	C	15: 76,074,733 (GRCm39)	D411E	probably damaging	Het
Pmp2	C	T	3: 10,247,474 (GRCm39)	D72N	probably benign	Het
Ptpn9	T	C	9: 56,943,960 (GRCm39)	V278A	possibly damaging	Het
Rbm33	A	G	5: 28,557,687 (GRCm39)	H300R	probably damaging	Het
Rpgrip1l	T	C	8: 91,987,546 (GRCm39)	Q837R	probably benign	Het
Rwdd4a	T	C	8: 48,003,709 (GRCm39)		probably benign	Het
Sema6a	T	C	18: 47,381,455 (GRCm39)	T1048A	probably damaging	Het
Senp1	G	A	15: 97,974,488 (GRCm39)	A108V	probably benign	Het
Sesn1	A	G	10: 41,687,097 (GRCm39)	N27S	probably benign	Het
Shroom1	T	A	11: 53,354,809 (GRCm39)	L243*	probably null	Het
Slc17a5	A	G	9: 78,448,270 (GRCm39)	Y395H	probably damaging	Het
Slc5a8	T	C	10: 88,755,422 (GRCm39)		probably null	Het
Sptbn5	G	A	2: 119,892,212 (GRCm39)	S1083F	probably benign	Het
Stx4a	T	A	7: 127,445,787 (GRCm39)	V231E	probably damaging	Het
Swt1	A	T	1: 151,287,145 (GRCm39)	S116T	probably benign	Het
Syt9	C	T	7: 107,103,426 (GRCm39)	T408I	probably damaging	Het
Tgm7	T	C	2: 120,931,480 (GRCm39)	T228A	probably benign	Het
Tmem115	A	G	9: 107,415,141 (GRCm39)	D310G	probably benign	Het
Trcg1	G	A	9: 57,148,587 (GRCm39)	G53D	probably damaging	Het
Tsfm	T	C	10: 126,865,482 (GRCm39)	K100E	probably damaging	Het
Usp1	A	G	4: 98,822,446 (GRCm39)	T587A	probably damaging	Het
Vcpip1	G	T	1: 9,818,302 (GRCm39)	A27E	unknown	Het
Vmn2r49	T	C	7: 9,720,300 (GRCm39)	N397S	probably benign	Het
Vmn2r8	A	G	5: 108,956,572 (GRCm39)	S17P	probably damaging	Het
Vwa3b	A	G	1: 37,226,102 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,998,114 (GRCm39)	S1094T	probably benign	Het
Zbtb22	C	G	17: 34,137,610 (GRCm39)	S585C	possibly damaging	Het
Zhx2	A	G	15: 57,685,182 (GRCm39)	T184A	probably benign	Het

Other mutations in Serpine2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGCAGGGTCTCAGAGAAAGC -3'
(R):5'- CCACAGAAGTCATTAGGCATAAACTAG -3'

Sequencing Primer
(F):5'- GCATTCAGAAAAGACAGCCTGGTTC -3'
(R):5'- GGCATAAACTAGATCTGCCTCTGG -3'

Posted On

2016-06-21