Mutagenetix > Incidental Mutation

Incidental Mutation 'R4844:Serpine2'

372026

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

042457-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4844 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79772038-79836382 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 79777241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 192 (L192*)

Ref Sequence

ENSEMBL: ENSMUSP00000140065 (fasta)

Gene Model

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

AlphaFold

Q07235

Predicted Effect

probably null
Transcript: ENSMUST00000027467
AA Change: L339*

SMART Domains

Protein: ENSMUSP00000027467
Gene: ENSMUSG00000026249
AA Change: L339*

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

Predicted Effect

probably null
Transcript: ENSMUST00000189793
AA Change: L192*

SMART Domains

Protein: ENSMUSP00000140065
Gene: ENSMUSG00000026249
AA Change: L192*

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (68/70)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,634,824 (GRCm39)	T147A	probably benign	Het
Acvrl1	T	C	15: 101,033,409 (GRCm39)	S99P	probably damaging	Het
Adamts3	T	A	5: 89,825,675 (GRCm39)	S1055C	probably damaging	Het
Aftph	T	C	11: 20,658,667 (GRCm39)		probably benign	Het
Aldh1a1	A	G	19: 20,611,764 (GRCm39)	K363E	probably benign	Het
Astn2	A	G	4: 65,562,967 (GRCm39)	V886A	possibly damaging	Het
Atad5	G	A	11: 80,005,137 (GRCm39)		probably null	Het
C9orf72	A	G	4: 35,213,565 (GRCm39)	V31A	possibly damaging	Het
Ccnf	G	T	17: 24,449,331 (GRCm39)	Y482*	probably null	Het
Cfap97	A	G	8: 46,622,712 (GRCm39)	D34G	possibly damaging	Het
Chst11	G	T	10: 83,026,923 (GRCm39)	E117*	probably null	Het
Cobl	A	T	11: 12,204,740 (GRCm39)	L572Q	probably benign	Het
Coch	G	A	12: 51,649,477 (GRCm39)	G263S	probably damaging	Het
Coq4	T	C	2: 29,686,026 (GRCm39)	I205T	possibly damaging	Het
Cyp3a13	A	T	5: 137,915,813 (GRCm39)	I62K	probably benign	Het
Cyp7a1	A	G	4: 6,273,655 (GRCm39)	S84P	probably damaging	Het
Dennd10	GTCT	GT	19: 60,823,435 (GRCm39)		probably null	Het
G6pc3	G	A	11: 102,084,057 (GRCm39)		probably null	Het
Gm10576	T	C	4: 100,911,707 (GRCm39)		noncoding transcript	Het
Gm17511	G	A	7: 126,885,454 (GRCm39)		noncoding transcript	Het
Gnat2	T	C	3: 108,002,831 (GRCm39)	S80P	probably damaging	Het
Gpaa1	C	T	15: 76,216,508 (GRCm39)		probably benign	Het
Gpr107	T	A	2: 31,078,686 (GRCm39)		probably null	Het
Hormad1	T	C	3: 95,478,242 (GRCm39)	Y103H	probably damaging	Het
Ighv14-1	T	G	12: 113,895,622 (GRCm39)	Q101P	probably damaging	Het
Igsf9	A	G	1: 172,324,737 (GRCm39)	D885G	probably benign	Het
Il15ra	G	A	2: 11,723,082 (GRCm39)		probably benign	Het
Islr2	C	T	9: 58,115,517 (GRCm39)		probably benign	Het
Jak3	A	T	8: 72,134,299 (GRCm39)	N467I	possibly damaging	Het
Jarid2	T	C	13: 45,067,248 (GRCm39)	V1023A	probably damaging	Het
Kcnn2	A	T	18: 45,816,187 (GRCm39)	T333S	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2c	T	C	5: 25,520,111 (GRCm39)	T2000A	probably benign	Het
Lpxn	A	G	19: 12,810,536 (GRCm39)	T327A	probably damaging	Het
Mxra8	A	G	4: 155,927,151 (GRCm39)	T362A	probably benign	Het
Myh6	A	G	14: 55,184,651 (GRCm39)	I1560T	possibly damaging	Het
Ndufv1	A	G	19: 4,062,574 (GRCm39)	S17P	probably benign	Het
Nwd1	A	T	8: 73,393,742 (GRCm39)	H335L	probably damaging	Het
Or1a1	A	G	11: 74,086,902 (GRCm39)	D191G	probably damaging	Het
Or2f1b	T	A	6: 42,739,394 (GRCm39)	M136K	probably damaging	Het
Otop2	G	A	11: 115,214,201 (GRCm39)		probably null	Het
Pwwp2b	C	A	7: 138,835,502 (GRCm39)	S314R	probably benign	Het
Rfx7	C	T	9: 72,500,524 (GRCm39)	Q95*	probably null	Het
Smpdl3b	T	C	4: 132,465,369 (GRCm39)	I322M	probably damaging	Het
Spata31d1b	C	T	13: 59,866,169 (GRCm39)	R1106C	possibly damaging	Het
Sprr2k	T	G	3: 92,336,732 (GRCm39)		probably null	Het
St8sia1	T	A	6: 142,774,996 (GRCm39)	R194S	possibly damaging	Het
Sv2a	T	A	3: 96,095,695 (GRCm39)	V337D	probably damaging	Het
Tars1	G	A	15: 11,385,281 (GRCm39)	R637W	possibly damaging	Het
Tcp11l2	G	T	10: 84,449,555 (GRCm39)	V507L	probably benign	Het
Tpr	T	C	1: 150,321,630 (GRCm39)	Y2262H	possibly damaging	Het
Vars1	A	G	17: 35,230,588 (GRCm39)	E529G	probably damaging	Het
Vash2	C	T	1: 190,710,691 (GRCm39)		probably benign	Het
Vmn1r194	T	C	13: 22,429,223 (GRCm39)	V280A	probably benign	Het
Vti1a	A	G	19: 55,380,297 (GRCm39)	T142A	probably damaging	Het
Zfp111	C	T	7: 23,898,801 (GRCm39)	C270Y	probably damaging	Het
Zfp518a	T	A	19: 40,903,340 (GRCm39)	Y1090N	probably damaging	Het
Zfp616	A	T	11: 73,975,225 (GRCm39)	Y498F	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
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
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'- TCTCCCAAGGGTCAGCTTTC -3'
(R):5'- ATTTAGGGTCTGGGAATCCATC -3'

Sequencing Primer
(F):5'- AGGGTCAGCTTTCAAGACTC -3'
(R):5'- TTGAAATCTACTGCAAGTGACAGCC -3'

Posted On

2016-03-01