Mutagenetix > Incidental Mutation

Incidental Mutation 'R7001:Serpine2'

544517

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

045106-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79772038-79836382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79772748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 390 (F390L)

Ref Sequence

ENSEMBL: ENSMUSP00000027467 (fasta)

Gene Model

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

AlphaFold

Q07235

Predicted Effect

probably damaging
Transcript: ENSMUST00000027467
AA Change: F390L

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

SMART Domains

Protein: ENSMUSP00000027467
Gene: ENSMUSG00000026249
AA Change: F390L

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,771,272 (GRCm39)	Q154K	probably benign	Het
Aldh6a1	T	G	12: 84,488,662 (GRCm39)	T75P	probably damaging	Het
Ank2	T	A	3: 126,871,230 (GRCm39)	H98L	probably damaging	Het
Ankib1	A	G	5: 3,744,781 (GRCm39)	F800S	probably benign	Het
Arhgap10	A	T	8: 78,091,717 (GRCm39)	M434K	possibly damaging	Het
Cap1	A	T	4: 122,758,408 (GRCm39)	F257L	probably benign	Het
Cdt1	T	A	8: 123,299,249 (GRCm39)	H510Q	probably damaging	Het
Clca3b	A	C	3: 144,533,733 (GRCm39)	D547E	possibly damaging	Het
Col24a1	T	C	3: 145,004,627 (GRCm39)	V35A	probably benign	Het
Cyp2j13	A	T	4: 95,945,112 (GRCm39)	N305K	probably damaging	Het
D3Ertd751e	T	A	3: 41,712,844 (GRCm39)		probably null	Het
D6Ertd527e	G	A	6: 87,088,194 (GRCm39)	G119D	unknown	Het
Ddc	T	C	11: 11,774,870 (GRCm39)		probably null	Het
Dnah12	A	T	14: 26,601,681 (GRCm39)	Y3713F	probably damaging	Het
Dock8	T	A	19: 25,077,041 (GRCm39)	S504T	probably benign	Het
Farp2	T	C	1: 93,547,906 (GRCm39)	F941L	possibly damaging	Het
Farp2	A	G	1: 93,547,952 (GRCm39)	N956S	possibly damaging	Het
Fbxo3	T	A	2: 103,881,569 (GRCm39)	H300Q	probably damaging	Het
Fcgrt	T	C	7: 44,751,466 (GRCm39)	T131A	probably benign	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Frem1	T	C	4: 82,904,798 (GRCm39)	E890G	probably benign	Het
Fsip2	C	A	2: 82,817,269 (GRCm39)	P4334H	probably damaging	Het
Gcdh	C	A	8: 85,617,540 (GRCm39)	V227L	probably benign	Het
Gm8267	A	C	14: 44,960,385 (GRCm39)	M120R	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Lasp1	T	G	11: 97,697,659 (GRCm39)	H26Q	probably damaging	Het
Lrrcc1	T	A	3: 14,605,155 (GRCm39)	I297N	probably damaging	Het
Map1b	A	T	13: 99,567,101 (GRCm39)	N1873K	unknown	Het
Map2	A	G	1: 66,454,646 (GRCm39)	I1179V	probably benign	Het
Mtss1	A	C	15: 58,820,183 (GRCm39)		probably benign	Het
Mtus2	A	G	5: 148,214,438 (GRCm39)	E28G	probably damaging	Het
Muc6	G	A	7: 141,217,320 (GRCm39)	T2386I	probably damaging	Het
Myo3a	G	T	2: 22,337,188 (GRCm39)	V362L	probably benign	Het
N6amt1	G	A	16: 87,151,180 (GRCm39)	V14M	probably benign	Het
Nav1	A	T	1: 135,382,349 (GRCm39)		probably null	Het
Nol6	A	G	4: 41,121,279 (GRCm39)	S326P	probably benign	Het
Olr1	T	A	6: 129,465,074 (GRCm39)	E100V	probably damaging	Het
Or52ab4	A	G	7: 102,987,428 (GRCm39)	S56G	possibly damaging	Het
Or8k37	A	T	2: 86,469,495 (GRCm39)	S186T	probably benign	Het
Otop3	T	C	11: 115,230,479 (GRCm39)	Y119H	probably damaging	Het
Prb1b	C	T	6: 132,289,527 (GRCm39)	G99E	unknown	Het
Ryr2	A	T	13: 11,809,491 (GRCm39)	M778K	probably damaging	Het
Serpina3n	G	T	12: 104,375,184 (GRCm39)	M85I	probably benign	Het
Sf3b1	A	G	1: 55,040,205 (GRCm39)	V591A	probably damaging	Het
Sf3b1	A	G	1: 55,053,640 (GRCm39)		probably null	Het
Slc26a5	C	T	5: 22,016,334 (GRCm39)	V646I	probably damaging	Het
Slitrk3	T	A	3: 72,957,942 (GRCm39)	K277*	probably null	Het
Sv2c	A	G	13: 96,118,461 (GRCm39)	S463P	probably benign	Het
Tbc1d4	G	A	14: 101,696,185 (GRCm39)	T858M	probably benign	Het
Tbx18	T	A	9: 87,609,457 (GRCm39)	I193F	probably damaging	Het
Tm6sf2	A	C	8: 70,530,982 (GRCm39)	D245A	probably damaging	Het
Unc119	T	C	11: 78,239,380 (GRCm39)	Y234H	probably damaging	Het
Wrn	A	T	8: 33,842,157 (GRCm39)	S46T	probably benign	Het
Zfp729a	A	T	13: 67,768,468 (GRCm39)	I587K	probably benign	Het
Zfp872	C	A	9: 22,111,912 (GRCm39)	H464N	probably damaging	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
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
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'- GCGTCACTTAACTGCTGCTATG -3'
(R):5'- TTCACATCCATGCACTGTGG -3'

Sequencing Primer
(F):5'- GTCACTTAACTGCTGCTATGAACCAG -3'
(R):5'- AATGACAGCGTCTTAGACTGTCC -3'

Posted On

2019-05-13