Mutagenetix > Incidental Mutation

Incidental Mutation 'R5786:Serpine2'

447989

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79772038-79836382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79794637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 99 (I99V)

Ref Sequence

ENSEMBL: ENSMUSP00000027467 (fasta)

Gene Model

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

AlphaFold

Q07235

Predicted Effect

probably benign
Transcript: ENSMUST00000027467
AA Change: I99V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000027467
Gene: ENSMUSG00000026249
AA Change: I99V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153862

Predicted Effect

probably benign
Transcript: ENSMUST00000189793

SMART Domains

Protein: ENSMUSP00000140065
Gene: ENSMUSG00000026249

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190724
AA Change: I99V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000140255
Gene: ENSMUSG00000026249
AA Change: I99V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191529

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,945,122 (GRCm39)	D200E	probably damaging	Het
4930578I06Rik	C	A	14: 64,210,691 (GRCm39)	R179L	probably damaging	Het
Abhd5	A	G	9: 122,192,868 (GRCm39)		probably null	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Ano5	G	A	7: 51,216,066 (GRCm39)	D348N	possibly damaging	Het
Apob	C	T	12: 8,065,304 (GRCm39)	T4091I	possibly damaging	Het
Avil	G	A	10: 126,852,368 (GRCm39)		probably null	Het
Cacna1a	T	C	8: 85,142,350 (GRCm39)		probably benign	Het
Capn7	T	C	14: 31,082,102 (GRCm39)	L436P	probably damaging	Het
Ccdc33	A	G	9: 57,937,235 (GRCm39)	S655P	possibly damaging	Het
Ccr6	T	C	17: 8,475,244 (GRCm39)	S150P	probably damaging	Het
Cd1d1	T	C	3: 86,906,095 (GRCm39)	N60S	probably benign	Het
Ckap5	A	G	2: 91,446,641 (GRCm39)		probably null	Het
Col15a1	A	G	4: 47,280,865 (GRCm39)	E753G	possibly damaging	Het
Col1a2	C	T	6: 4,530,223 (GRCm39)	R699W	unknown	Het
Cracd	T	C	5: 77,014,043 (GRCm39)		probably null	Het
Csf2rb	T	C	15: 78,233,155 (GRCm39)	Y821H	probably damaging	Het
Cyp3a11	A	G	5: 145,799,284 (GRCm39)	I301T	possibly damaging	Het
Dpp3	C	T	19: 4,968,350 (GRCm39)	G241R	possibly damaging	Het
Dpyd	G	T	3: 119,220,886 (GRCm39)	M952I	probably damaging	Het
Dsg3	A	T	18: 20,654,628 (GRCm39)	I111L	possibly damaging	Het
Ect2	A	G	3: 27,201,102 (GRCm39)	F123L	probably damaging	Het
Ehmt2	G	C	17: 35,129,719 (GRCm39)	D961H	probably damaging	Het
Esp1	A	G	17: 41,041,809 (GRCm39)	I34V	probably benign	Het
Fam171b	G	A	2: 83,708,580 (GRCm39)	V361I	probably benign	Het
Flnc	T	A	6: 29,459,536 (GRCm39)	Y2545*	probably null	Het
Fmo4	C	T	1: 162,631,286 (GRCm39)	G227D	probably benign	Het
Grn	C	T	11: 102,324,869 (GRCm39)	Q153*	probably null	Het
H2-DMb1	T	G	17: 34,372,408 (GRCm39)	S12R	possibly damaging	Het
Ica1	G	T	6: 8,672,391 (GRCm39)	N203K	possibly damaging	Het
Kdm4c	C	A	4: 74,277,722 (GRCm39)	T792K	probably damaging	Het
Kif19a	T	A	11: 114,670,049 (GRCm39)	Y81*	probably null	Het
Kifc2	G	T	15: 76,548,578 (GRCm39)	C440F	probably damaging	Het
Lpin2	A	G	17: 71,537,268 (GRCm39)	T234A	probably benign	Het
Lysmd2	C	A	9: 75,542,885 (GRCm39)	P164Q	probably benign	Het
Maea	T	A	5: 33,526,027 (GRCm39)	D234E	probably benign	Het
Map4k1	T	A	7: 28,699,445 (GRCm39)	V572E	probably damaging	Het
Med6	C	T	12: 81,620,733 (GRCm39)	G166R	probably null	Het
Mtmr10	T	C	7: 63,987,458 (GRCm39)	I666T	probably damaging	Het
Myh14	T	A	7: 44,262,887 (GRCm39)	K1777M	probably benign	Het
Naip6	G	T	13: 100,436,724 (GRCm39)	Q600K	probably benign	Het
Obscn	A	G	11: 58,923,517 (GRCm39)	S6461P	probably damaging	Het
Or1j4	T	C	2: 36,740,061 (GRCm39)	M1T	probably null	Het
Osbpl7	T	A	11: 96,956,658 (GRCm39)	V567E	probably damaging	Het
Rad51ap2	A	T	12: 11,506,921 (GRCm39)	D281V	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpl24	C	A	16: 55,787,516 (GRCm39)	H59N	possibly damaging	Het
Rtl1	G	A	12: 109,559,053 (GRCm39)	L929F	possibly damaging	Het
Runx3	C	T	4: 134,890,575 (GRCm39)	T159I	probably damaging	Het
Slc12a6	C	A	2: 112,115,067 (GRCm39)	P12Q	probably benign	Het
Slc25a18	T	C	6: 120,769,035 (GRCm39)	L184P	probably damaging	Het
Smg1	T	C	7: 117,812,120 (GRCm39)	D57G	probably benign	Het
Spdye4c	T	A	2: 128,438,761 (GRCm39)	*340K	probably null	Het
Srsf5	G	A	12: 80,996,311 (GRCm39)	E162K	possibly damaging	Het
Ssc5d	T	C	7: 4,939,817 (GRCm39)	V751A	probably benign	Het
Tcf3	T	C	10: 80,255,333 (GRCm39)	N157S	probably benign	Het
Tdrd7	T	C	4: 45,989,082 (GRCm39)	V71A	probably benign	Het
Tex14	T	C	11: 87,405,121 (GRCm39)	C678R	probably damaging	Het
Tgm3	A	T	2: 129,868,704 (GRCm39)	K214*	probably null	Het
Vps53	A	G	11: 75,953,833 (GRCm39)	I659T	probably benign	Het
Zfp597	A	T	16: 3,684,023 (GRCm39)	C244*	probably null	Het
Zfp933	T	A	4: 147,912,864 (GRCm39)		probably null	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
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
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'- AGAATTTCCATGTCCCACCC -3'
(R):5'- TGTAGCCTCAGATAACCTCAAC -3'

Sequencing Primer
(F):5'- TAGGAGAACCACTCACCCCTGG -3'
(R):5'- ACCTCAACTTTAACTCATGACATTC -3'

Posted On

2016-12-15