Mutagenetix > Incidental Mutation

Incidental Mutation 'R7395:Serpine2'

573701

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7395 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79794197-79861180 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79801555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 296 (F296L)

Ref Sequence

ENSEMBL: ENSMUSP00000027467 (fasta)

Gene Model

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

AlphaFold

Q07235

Predicted Effect

probably damaging
Transcript: ENSMUST00000027467
AA Change: F296L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027467
Gene: ENSMUSG00000026249
AA Change: F296L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000189793
AA Change: F149L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140065
Gene: ENSMUSG00000026249
AA Change: F149L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (92/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 56,138,780		probably null	Het
4930433I11Rik	A	T	7: 40,989,678	T13S	probably damaging	Het
Abca13	A	G	11: 9,291,658	I1174V	probably benign	Het
Acoxl	G	A	2: 127,884,416	V237M	probably damaging	Het
Adam33	A	C	2: 131,061,169	W52G	probably benign	Het
Adgrv1	T	C	13: 81,559,348	H1313R	probably damaging	Het
Ap3d1	T	C	10: 80,730,882	T89A	probably benign	Het
Armc8	T	C	9: 99,533,132	E165G	probably damaging	Het
Atp6v1c1	T	C	15: 38,691,705	*383Q	probably null	Het
Atp8b4	A	T	2: 126,375,694	L634Q	possibly damaging	Het
B3glct	A	G	5: 149,725,604		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Bicd2	A	G	13: 49,378,230	D316G	possibly damaging	Het
Bop1	A	T	15: 76,453,841	S610T	probably damaging	Het
Car11	T	A	7: 45,701,321	Y80*	probably null	Het
Ccdc96	T	C	5: 36,485,265	I205T	probably benign	Het
Ces2a	A	G	8: 104,739,641	E390G	probably benign	Het
Cfap54	C	A	10: 92,884,703	V2630L	unknown	Het
Chek2	G	T	5: 110,872,108		probably null	Het
Cntn3	C	T	6: 102,337,394		probably null	Het
Cpne3	A	T	4: 19,528,239	D339E	probably damaging	Het
Crocc2	C	T	1: 93,216,107	Q1403*	probably null	Het
Csnka2ip	G	A	16: 64,479,440	T187I		Het
Ctu1	A	G	7: 43,676,595	H226R	possibly damaging	Het
Cubn	G	T	2: 13,287,064	Q3317K	probably damaging	Het
Cyp17a1	A	G	19: 46,670,695	L169P	probably benign	Het
Dcc	T	A	18: 71,374,569	K911*	probably null	Het
Dcun1d2	G	A	8: 13,278,675	R75*	probably null	Het
Defb19	A	T	2: 152,580,023		probably null	Het
Dffb	A	T	4: 153,969,113	S257R	probably damaging	Het
Dip2c	A	C	13: 9,614,377	N942T	probably damaging	Het
Dnah3	T	A	7: 119,966,251	I169F		Het
Dnah3	T	C	7: 120,060,960	M830V	probably benign	Het
Dnajc5g	G	A	5: 31,111,665	S130N	possibly damaging	Het
Dscaml1	C	A	9: 45,702,405	Q939K	possibly damaging	Het
Evpl	G	C	11: 116,227,079	N761K	possibly damaging	Het
Fbxw8	A	T	5: 118,068,215	I556N	probably damaging	Het
Fry	G	T	5: 150,380,883	M579I	possibly damaging	Het
Ggt7	A	T	2: 155,495,880	M488K	probably benign	Het
Gm6588	A	T	5: 112,450,169	E194V	possibly damaging	Het
Gnpnat1	T	A	14: 45,381,581	H107L	probably benign	Het
Golga2	C	A	2: 32,305,587	P798Q	possibly damaging	Het
Gpr35	G	A	1: 92,983,207	A214T	probably damaging	Het
Greb1	A	T	12: 16,709,430		probably null	Het
Hdac10	G	A	15: 89,128,284	T32I	probably benign	Het
Hkdc1	G	A	10: 62,385,699	T860I	probably damaging	Het
Icam5	C	A	9: 21,035,442	P422Q	possibly damaging	Het
Ispd	A	T	12: 36,501,995	I283F	possibly damaging	Het
Ist1	A	C	8: 109,677,527	S238A	probably benign	Het
Lrig2	T	C	3: 104,497,520	N91D	probably benign	Het
Mapt	A	C	11: 104,328,123	D352A	probably damaging	Het
Micall2	G	A	5: 139,716,369	P373L	possibly damaging	Het
Mocs1	A	G	17: 49,454,557	S560G	possibly damaging	Het
Mpo	A	G	11: 87,801,124	D461G	probably damaging	Het
Myo1a	G	T	10: 127,710,440	V271L	probably damaging	Het
Ncoa1	G	A	12: 4,295,188	P720S	not run	Het
Ncr1	T	A	7: 4,338,151	I47N	probably damaging	Het
Ndufb6	G	A	4: 40,277,730	R66C	probably damaging	Het
Obox5	A	T	7: 15,758,743	S208C	probably damaging	Het
Olfr136	A	T	17: 38,335,864	K236*	probably null	Het
Olfr1494	T	C	19: 13,749,138	S11P	probably damaging	Het
Olfr39	T	A	9: 20,286,530	M285K	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,404	F116Y	unknown	Het
Padi4	A	C	4: 140,761,672	V152G	probably damaging	Het
Pdzd7	A	T	19: 45,037,011	D348E	probably damaging	Het
Pdzph1	T	A	17: 58,879,159	K1212N	possibly damaging	Het
Piezo2	C	T	18: 63,027,563	G2341R	probably damaging	Het
Plb1	A	G	5: 32,353,684	K1298E	probably benign	Het
Prr14l	A	G	5: 32,828,638	L1171P	probably benign	Het
Rab11fip5	T	C	6: 85,341,868	T680A	probably benign	Het
Rev1	A	T	1: 38,088,065	N371K	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Ryr2	A	G	13: 11,785,111	C917R	probably damaging	Het
Sall1	A	T	8: 89,030,921	S852T	possibly damaging	Het
Slc12a6	A	T	2: 112,352,542	N754I	probably damaging	Het
Slc39a6	A	T	18: 24,585,275	L575Q	probably damaging	Het
Smarcc2	T	A	10: 128,485,606	L890Q	probably damaging	Het
Smg5	T	A	3: 88,361,071	V1006D	probably damaging	Het
Ssh2	T	C	11: 77,393,073	V51A	probably damaging	Het
St14	T	C	9: 31,096,899	K547E	probably benign	Het
Stag1	T	G	9: 100,796,728	V234G	probably damaging	Het
Stag3	A	T	5: 138,281,945	Q24L	probably benign	Het
Stra6	T	C	9: 58,141,097	Y158H	probably damaging	Het
Tcstv1	A	T	13: 119,894,130		probably null	Het
Tmem196	G	A	12: 120,011,267	C62Y	probably damaging	Het
Tmem265	T	A	7: 127,564,867	F84L		Het
Tph1	C	T	7: 46,657,203		probably null	Het
Ttn	A	G	2: 76,946,490	I1522T	unknown	Het
Ulk4	T	A	9: 121,255,112	Q129L	probably benign	Het
Usp17la	T	A	7: 104,861,585	S466T	probably benign	Het
Vmn2r31	A	T	7: 7,384,745	V609E	probably damaging	Het
Vmn2r52	C	T	7: 10,170,817	C365Y	probably benign	Het
Zbtb4	A	T	11: 69,776,111	T81S	possibly damaging	Het
Zfp605	A	T	5: 110,112,019		probably benign	Het

Other mutations in Serpine2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Serpine2	APN	1	79810694	missense	probably damaging	0.98
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
R7660:Serpine2	UTSW	1	79802905	missense	probably benign	0.07
R7844:Serpine2	UTSW	1	79816799	missense	probably benign
R8873:Serpine2	UTSW	1	79821550	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTTAGGGCAACATACTCCCG -3'
(R):5'- TGGCCATGCTCATTGTGAGTAAG -3'

Sequencing Primer
(F):5'- AGGGCAACATACTCCCGATTTTC -3'
(R):5'- CCATGCTCATTGTGAGTAAGAAGAG -3'

Posted On

2019-09-13