Mutagenetix > Incidental Mutation

Incidental Mutation 'R1519:Serpine2'

167239

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79794197-79861180 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79795031 bp (GRCm38)

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: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528 (GRCm38)	P187R	probably damaging	Het
9230019H11Rik	A	G	10: 3,125,230 (GRCm38)		noncoding transcript	Het
9530077C05Rik	T	G	9: 22,430,375 (GRCm38)	L114R	probably benign	Het
Abhd5	T	C	9: 122,379,014 (GRCm38)		probably null	Het
Acadvl	A	G	11: 70,014,791 (GRCm38)		probably null	Het
Actn1	T	C	12: 80,205,078 (GRCm38)	E75G	probably damaging	Het
Adam4	A	T	12: 81,420,877 (GRCm38)	N323K	possibly damaging	Het
Anks6	G	A	4: 47,027,152 (GRCm38)	R689W	probably damaging	Het
Anxa2	T	C	9: 69,485,241 (GRCm38)	I124T	probably damaging	Het
Aph1c	T	C	9: 66,833,265 (GRCm38)	T10A	probably benign	Het
Arhgap40	T	A	2: 158,546,801 (GRCm38)	W552R	probably benign	Het
Baz2b	C	T	2: 59,948,254 (GRCm38)	R754H	possibly damaging	Het
Blmh	A	G	11: 76,966,781 (GRCm38)	Y147C	probably damaging	Het
C1galt1	C	T	6: 7,866,402 (GRCm38)	L83F	probably damaging	Het
Cd163l1	G	A	7: 140,228,156 (GRCm38)	V747I	probably benign	Het
Cdh23	A	T	10: 60,379,343 (GRCm38)	Y1403N	possibly damaging	Het
Cic	A	T	7: 25,293,810 (GRCm38)		probably null	Het
Coro1b	T	A	19: 4,150,584 (GRCm38)	V200D	possibly damaging	Het
Csl	T	A	10: 99,757,955 (GRCm38)	E416V	probably damaging	Het
Cyp3a25	A	G	5: 146,001,447 (GRCm38)		probably null	Het
Dennd2d	T	A	3: 106,492,559 (GRCm38)	F266Y	probably damaging	Het
Dnah10	A	G	5: 124,760,952 (GRCm38)	E1072G	probably damaging	Het
Dnah6	T	A	6: 73,049,048 (GRCm38)	K3435N	probably damaging	Het
Dnah9	G	A	11: 65,881,761 (GRCm38)	A3715V	probably damaging	Het
Fam186a	G	A	15: 99,947,655 (GRCm38)	S236L	unknown	Het
Fam198b	A	G	3: 79,941,464 (GRCm38)	N506D	possibly damaging	Het
Frs3	A	G	17: 47,702,978 (GRCm38)	T199A	probably benign	Het
Fsd1	A	G	17: 55,993,870 (GRCm38)	N243S	probably benign	Het
Gabra5	A	C	7: 57,408,893 (GRCm38)	L369R	probably benign	Het
Gins4	A	G	8: 23,234,776 (GRCm38)	V54A	probably benign	Het
Gli1	T	C	10: 127,334,269 (GRCm38)	E339G	possibly damaging	Het
Gm12185	A	G	11: 48,907,767 (GRCm38)	V633A	probably damaging	Het
Gm8251	A	G	1: 44,056,970 (GRCm38)	V1656A	probably benign	Het
Gm8765	G	A	13: 50,700,407 (GRCm38)		probably null	Het
Gpr83	T	A	9: 14,868,197 (GRCm38)	C182S	probably null	Het
Gspt1	A	G	16: 11,220,855 (GRCm38)	V627A	probably damaging	Het
Heatr1	T	C	13: 12,412,159 (GRCm38)	C722R	probably benign	Het
Jak1	C	T	4: 101,162,922 (GRCm38)	R680Q	probably damaging	Het
Kif2c	A	G	4: 117,169,940 (GRCm38)	V287A	probably damaging	Het
Kmo	A	G	1: 175,656,802 (GRCm38)	E366G	probably damaging	Het
Kmo	C	T	1: 175,651,618 (GRCm38)	P240L	possibly damaging	Het
Lepr	A	T	4: 101,789,344 (GRCm38)	N824I	probably damaging	Het
Lyrm7	T	A	11: 54,848,599 (GRCm38)	H75L	possibly damaging	Het
Map4k1	A	T	7: 28,991,036 (GRCm38)	Q351L	probably benign	Het
Mgam	T	C	6: 40,661,683 (GRCm38)	I450T	probably benign	Het
Nbeal2	A	G	9: 110,636,305 (GRCm38)	L955P	probably damaging	Het
Nlrp9c	T	C	7: 26,378,101 (GRCm38)	K752R	possibly damaging	Het
Nsmaf	A	T	4: 6,438,062 (GRCm38)	I70K	probably benign	Het
Olfr201	C	T	16: 59,268,944 (GRCm38)	C241Y	probably damaging	Het
Olfr298	A	G	7: 86,489,125 (GRCm38)	M142T	probably damaging	Het
Otud7a	A	G	7: 63,758,643 (GRCm38)	Y898C	probably damaging	Het
Pcdhb18	A	C	18: 37,490,892 (GRCm38)	D425A	probably damaging	Het
Prdm1	A	T	10: 44,439,986 (GRCm38)	L733*	probably null	Het
Prdm2	A	T	4: 143,135,583 (GRCm38)	I379N	probably damaging	Het
Ptprg	A	T	14: 12,220,596 (GRCm38)	Y436F	probably damaging	Het
Riok3	A	G	18: 12,137,306 (GRCm38)	D167G	probably damaging	Het
Rnf215	G	T	11: 4,135,451 (GRCm38)	R60L	probably damaging	Het
Sdk1	A	T	5: 141,999,950 (GRCm38)	H779L	probably benign	Het
Sh3d21	T	A	4: 126,151,726 (GRCm38)	K387*	probably null	Het
Slc13a2	T	C	11: 78,397,746 (GRCm38)	Y568C	possibly damaging	Het
Slc27a5	T	C	7: 12,988,459 (GRCm38)		probably null	Het
Slc32a1	T	C	2: 158,614,577 (GRCm38)	L384P	probably damaging	Het
Sorcs1	T	C	19: 50,252,587 (GRCm38)	N454D	probably benign	Het
Spag8	T	C	4: 43,652,777 (GRCm38)	Y228C	possibly damaging	Het
Spc25	T	C	2: 69,200,087 (GRCm38)	I71V	probably damaging	Het
Tcte1	T	A	17: 45,535,252 (GRCm38)	F261I	probably damaging	Het
Thsd7a	T	A	6: 12,471,175 (GRCm38)	K481N	probably benign	Het
Tll2	G	T	19: 41,086,400 (GRCm38)	N908K	probably benign	Het
Tmem236	T	C	2: 14,192,280 (GRCm38)	V93A	probably benign	Het
Top2b	G	A	14: 16,408,953 (GRCm38)		probably null	Het
Topaz1	G	A	9: 122,767,011 (GRCm38)	S949N	probably benign	Het
Triobp	A	G	15: 78,973,738 (GRCm38)	T1180A	probably benign	Het
Trip11	A	C	12: 101,886,160 (GRCm38)	D548E	probably benign	Het
Trpv2	T	A	11: 62,589,826 (GRCm38)		probably null	Het
Vmn1r12	T	A	6: 57,159,555 (GRCm38)	H212Q	probably damaging	Het
Vmn2r112	A	G	17: 22,618,903 (GRCm38)	T782A	possibly damaging	Het
Vmn2r7	A	G	3: 64,716,455 (GRCm38)	V239A	possibly damaging	Het
Vmn2r80	T	A	10: 79,194,219 (GRCm38)	N626K	probably damaging	Het
Vmn2r99	A	G	17: 19,380,060 (GRCm38)	S449G	probably benign	Het
Wfikkn2	T	C	11: 94,238,107 (GRCm38)	T403A	probably benign	Het
Xirp2	A	G	2: 67,515,679 (GRCm38)	I2755V	probably benign	Het
Yjefn3	A	G	8: 69,889,079 (GRCm38)	V153A	probably benign	Het
Zfp677	C	A	17: 21,397,237 (GRCm38)	H185Q	possibly damaging	Het
Zfp947	C	T	17: 22,146,292 (GRCm38)	V134I	probably benign	Het

Other mutations in Serpine2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Serpine2	APN	1	79,810,694 (GRCm38)	missense	probably damaging	0.98
IGL01386:Serpine2	APN	1	79,801,551 (GRCm38)	missense	probably damaging	0.97
IGL02069:Serpine2	APN	1	79,821,412 (GRCm38)	missense	possibly damaging	0.94
IGL02516:Serpine2	APN	1	79,794,997 (GRCm38)	unclassified	probably benign
IGL02743:Serpine2	APN	1	79,801,555 (GRCm38)	missense	probably damaging	1.00
R0372:Serpine2	UTSW	1	79,821,430 (GRCm38)	missense	probably damaging	0.98
R1768:Serpine2	UTSW	1	79,816,815 (GRCm38)	missense	probably damaging	1.00
R1993:Serpine2	UTSW	1	79,821,442 (GRCm38)	missense	probably damaging	1.00
R1995:Serpine2	UTSW	1	79,821,442 (GRCm38)	missense	probably damaging	1.00
R2034:Serpine2	UTSW	1	79,796,852 (GRCm38)	missense	probably damaging	1.00
R2094:Serpine2	UTSW	1	79,810,694 (GRCm38)	missense	probably damaging	0.98
R2311:Serpine2	UTSW	1	79,810,548 (GRCm38)	splice site	probably benign
R2312:Serpine2	UTSW	1	79,802,853 (GRCm38)	missense	probably damaging	1.00
R2519:Serpine2	UTSW	1	79,799,539 (GRCm38)	missense	possibly damaging	0.55
R4844:Serpine2	UTSW	1	79,799,524 (GRCm38)	nonsense	probably null
R5141:Serpine2	UTSW	1	79,802,863 (GRCm38)	missense	possibly damaging	0.92
R5386:Serpine2	UTSW	1	79,821,287 (GRCm38)	nonsense	probably null
R5422:Serpine2	UTSW	1	79,821,489 (GRCm38)	missense	probably benign	0.10
R5422:Serpine2	UTSW	1	79,816,875 (GRCm38)	missense	probably benign	0.03
R5786:Serpine2	UTSW	1	79,816,920 (GRCm38)	missense	probably benign	0.02
R5794:Serpine2	UTSW	1	79,821,439 (GRCm38)	missense	probably benign
R6109:Serpine2	UTSW	1	79,810,671 (GRCm38)	missense	probably damaging	1.00
R6514:Serpine2	UTSW	1	79,821,570 (GRCm38)	splice site	probably null
R6544:Serpine2	UTSW	1	79,803,130 (GRCm38)	splice site	probably null
R7001:Serpine2	UTSW	1	79,795,031 (GRCm38)	missense	probably damaging	1.00
R7395:Serpine2	UTSW	1	79,801,555 (GRCm38)	missense	probably damaging	1.00
R7660:Serpine2	UTSW	1	79,802,905 (GRCm38)	missense	probably benign	0.07
R7844:Serpine2	UTSW	1	79,816,799 (GRCm38)	missense	probably benign
R8873:Serpine2	UTSW	1	79,821,550 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCATCCTTCACTACAGCATCCCAGG -3'
(R):5'- GGTTGGCTTCACATCCATGCACTG -3'

Sequencing Primer
(F):5'- GAAACACTTGCGTCACTTAACTG -3'
(R):5'- ctgtcctcaactcagctcc -3'

Posted On

2014-04-13