Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01319:Serpine2'

73970

Institutional Source

Australian Phenomics Network (link to record)

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01319

Quality Score

Status

Chromosome

Chromosomal Location

79794197-79861180 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79810694 bp

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]

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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

Meta Mutation Damage Score

0.8045

Coding Region Coverage

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,933,642	V307E	probably benign	Het
Bub1b	T	C	2: 118,614,994	I265T	possibly damaging	Het
Cntnap3	G	A	13: 64,787,837	T404I	probably damaging	Het
Disc1	T	C	8: 125,087,891	S165P	probably damaging	Het
Dock1	T	C	7: 134,789,278	F756L	probably benign	Het
Dock2	A	G	11: 34,698,790	V480A	possibly damaging	Het
Drc3	A	G	11: 60,364,962	D125G	probably null	Het
Emid1	C	T	11: 5,143,859	C96Y	probably damaging	Het
F13b	A	G	1: 139,506,793	N99S	probably damaging	Het
Fam20a	A	G	11: 109,678,458		probably benign	Het
Fancd2	C	A	6: 113,584,899	T1243K	probably damaging	Het
Fbxw14	T	C	9: 109,278,791	K172E	probably damaging	Het
Gm13941	T	C	2: 111,094,805		probably null	Het
Gtpbp4	A	T	13: 8,985,260	N354K	probably benign	Het
Igkv2-116	T	C	6: 68,152,404	L50P	probably benign	Het
Klrb1-ps1	C	T	6: 129,116,585	P23L	possibly damaging	Het
Kng2	T	A	16: 23,028,834	I26F	probably damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Lrpprc	T	C	17: 84,705,412		probably benign	Het
Man2a2	C	T	7: 80,361,132	V704M	possibly damaging	Het
Mbip	A	G	12: 56,330,242	V303A	probably benign	Het
Mipep	A	T	14: 60,843,271	M571L	probably benign	Het
Ncan	A	T	8: 70,097,562	V1188D	probably damaging	Het
Pcdhb4	T	C	18: 37,308,513	V292A	probably benign	Het
Pkd1	T	C	17: 24,587,919		probably benign	Het
Ppp2r2c	T	A	5: 36,947,121	S282T	possibly damaging	Het
Rad54l2	C	T	9: 106,719,046	G231D	probably benign	Het
Rnf20	T	G	4: 49,649,326	D443E	probably damaging	Het
Rptor	A	G	11: 119,891,170	M1108V	probably benign	Het
Sesn2	C	T	4: 132,499,967		probably benign	Het
Shank1	C	A	7: 44,353,123	A1422E	possibly damaging	Het
Slc13a4	C	T	6: 35,307,353		probably null	Het
Snrnp200	T	C	2: 127,230,127		probably benign	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
Tbxas1	A	G	6: 39,017,973	I178V	probably benign	Het
Tmem2	C	T	19: 21,844,757	P1172L	possibly damaging	Het
Triml1	A	G	8: 43,141,397		probably benign	Het
Tsen2	A	T	6: 115,576,984	Q441L	probably damaging	Het
Ttc23l	A	G	15: 10,509,406		probably benign	Het
Ttc37	A	G	13: 76,129,379	H491R	probably benign	Het
Ttn	T	C	2: 76,881,304		probably benign	Het
Vsig10l	C	T	7: 43,465,254	S293L	probably damaging	Het
Zcchc13	C	A	X: 103,631,000	Q110K	possibly damaging	Het

Other mutations in Serpine2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Serpine2	APN	1	79801551	missense	probably damaging	0.97
IGL02069:Serpine2	APN	1	79821412	missense	possibly damaging	0.94
IGL02516:Serpine2	APN	1	79794997	unclassified	probably benign
IGL02743:Serpine2	APN	1	79801555	missense	probably damaging	1.00
R0372:Serpine2	UTSW	1	79821430	missense	probably damaging	0.98
R1519:Serpine2	UTSW	1	79795031	missense	probably damaging	1.00
R1768:Serpine2	UTSW	1	79816815	missense	probably damaging	1.00
R1993:Serpine2	UTSW	1	79821442	missense	probably damaging	1.00
R1995:Serpine2	UTSW	1	79821442	missense	probably damaging	1.00
R2034:Serpine2	UTSW	1	79796852	missense	probably damaging	1.00
R2094:Serpine2	UTSW	1	79810694	missense	probably damaging	0.98
R2311:Serpine2	UTSW	1	79810548	splice site	probably benign
R2312:Serpine2	UTSW	1	79802853	missense	probably damaging	1.00
R2519:Serpine2	UTSW	1	79799539	missense	possibly damaging	0.55
R4844:Serpine2	UTSW	1	79799524	nonsense	probably null
R5141:Serpine2	UTSW	1	79802863	missense	possibly damaging	0.92
R5386:Serpine2	UTSW	1	79821287	nonsense	probably null
R5422:Serpine2	UTSW	1	79816875	missense	probably benign	0.03
R5422:Serpine2	UTSW	1	79821489	missense	probably benign	0.10
R5786:Serpine2	UTSW	1	79816920	missense	probably benign	0.02
R5794:Serpine2	UTSW	1	79821439	missense	probably benign
R6109:Serpine2	UTSW	1	79810671	missense	probably damaging	1.00
R6514:Serpine2	UTSW	1	79821570	splice site	probably null
R6544:Serpine2	UTSW	1	79803130	splice site	probably null
R7001:Serpine2	UTSW	1	79795031	missense	probably damaging	1.00
R7395:Serpine2	UTSW	1	79801555	missense	probably damaging	1.00
R7660:Serpine2	UTSW	1	79802905	missense	probably benign	0.07
R7844:Serpine2	UTSW	1	79816799	missense	probably benign

Posted On

2013-10-07