Mutagenetix > Incidental Mutation

Incidental Mutation 'R2252:Serping1'

241721

Institutional Source

Beutler Lab

Gene Symbol

Serping1

Ensembl Gene

ENSMUSG00000023224

Gene Name

serine (or cysteine) peptidase inhibitor, clade G, member 1

Synonyms

C1 inhibitor, C1nh, C1INH

MMRRC Submission

040252-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R2252 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84595731-84605788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84600195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 322 (S322P)

Ref Sequence

ENSEMBL: ENSMUSP00000107268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023994] [ENSMUST00000111641]

AlphaFold

P97290

Predicted Effect

probably benign
Transcript: ENSMUST00000023994
AA Change: S322P

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023994
Gene: ENSMUSG00000023224
AA Change: S322P

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SERPIN	156	502	3.26e-97	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111641
AA Change: S322P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107268
Gene: ENSMUSG00000023224
AA Change: S322P

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SERPIN	156	347	5.39e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131456

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice exhibit an increased vascular permeability compared to controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,380,061 (GRCm39)	S79F	probably damaging	Het
Acaca	G	T	11: 84,262,358 (GRCm39)	V1987L	probably damaging	Het
B3gnt3	A	T	8: 72,145,462 (GRCm39)	M302K	probably damaging	Het
BC048507	T	C	13: 68,011,626 (GRCm39)	M1T	probably null	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Casp3	G	T	8: 47,090,990 (GRCm39)	W214L	probably damaging	Het
Cd180	A	T	13: 102,842,906 (GRCm39)	K651*	probably null	Het
Cdh15	T	A	8: 123,584,161 (GRCm39)	D87E	probably damaging	Het
Cldn24	G	T	8: 48,275,363 (GRCm39)	R62S	probably benign	Het
Cnot1	A	G	8: 96,489,814 (GRCm39)	V463A	probably benign	Het
Cspg4	C	T	9: 56,805,330 (GRCm39)	T2047I	probably damaging	Het
Cul2	A	T	18: 3,399,876 (GRCm39)	L3F	probably damaging	Het
Cwc27	A	T	13: 104,768,237 (GRCm39)	H419Q	probably damaging	Het
Dgkg	A	T	16: 22,441,010 (GRCm39)	M1K	probably null	Het
Dock5	A	T	14: 68,022,261 (GRCm39)	L1171H	probably damaging	Het
Drc1	G	T	5: 30,500,075 (GRCm39)	V103F	probably benign	Het
Ep400	A	T	5: 110,866,957 (GRCm39)	N1062K	unknown	Het
Faap20	A	C	4: 155,335,010 (GRCm39)	E37A	possibly damaging	Het
Foxa2	A	G	2: 147,886,086 (GRCm39)	F243S	probably damaging	Het
Gzf1	T	C	2: 148,525,856 (GRCm39)	M109T	probably damaging	Het
Itch	T	A	2: 155,054,259 (GRCm39)	M701K	probably benign	Het
Kpna1	T	C	16: 35,841,939 (GRCm39)	Y280H	possibly damaging	Het
L1td1	A	G	4: 98,625,874 (GRCm39)		probably null	Het
Lrrc37a	T	C	11: 103,392,293 (GRCm39)	Q1044R	probably benign	Het
Lrrc52	A	T	1: 167,293,937 (GRCm39)	I116N	probably damaging	Het
Mbd5	A	G	2: 49,147,698 (GRCm39)	E636G	probably damaging	Het
Mrpl40	T	C	16: 18,694,125 (GRCm39)	H29R	probably benign	Het
Nrip1	T	C	16: 76,088,173 (GRCm39)	Y1128C	probably damaging	Het
Or10d3	G	T	9: 39,461,273 (GRCm39)	A298D	probably damaging	Het
Or4g16	A	G	2: 111,136,655 (GRCm39)	Y35C	probably damaging	Het
Or5ak20	A	G	2: 85,184,202 (GRCm39)	S23P	possibly damaging	Het
Or8c8	A	G	9: 38,165,126 (GRCm39)	I135V	probably benign	Het
Pard3	A	T	8: 128,337,080 (GRCm39)	E1232V	probably damaging	Het
Pcif1	A	G	2: 164,732,799 (GRCm39)	E628G	probably benign	Het
Pcsk1	C	A	13: 75,274,845 (GRCm39)	A478D	probably benign	Het
Pkd1l2	T	C	8: 117,784,177 (GRCm39)	Y700C	probably damaging	Het
Pknox2	T	C	9: 36,821,816 (GRCm39)	N270D	probably benign	Het
Plcb2	T	C	2: 118,554,246 (GRCm39)	N69S	probably benign	Het
Reep1	T	A	6: 71,733,426 (GRCm39)		probably null	Het
Sash1	A	T	10: 8,605,741 (GRCm39)	M883K	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin4	A	G	11: 87,480,637 (GRCm39)	N405D	possibly damaging	Het
Serpinb3b	T	C	1: 107,083,208 (GRCm39)	I231M	possibly damaging	Het
Slc7a2	T	C	8: 41,358,658 (GRCm39)	Y334H	probably benign	Het
Spink5	G	T	18: 44,153,891 (GRCm39)	E1013*	probably null	Het
Thoc3	A	T	13: 54,615,646 (GRCm39)	N139K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tubb2b	T	A	13: 34,314,198 (GRCm39)	I7F	possibly damaging	Het
Upf2	A	G	2: 5,966,271 (GRCm39)	D297G	unknown	Het
Vmn2r18	T	C	5: 151,508,441 (GRCm39)	I228V	possibly damaging	Het
Vmn2r98	A	C	17: 19,300,698 (GRCm39)	S567R	probably benign	Het
Vwa5a	T	C	9: 38,639,376 (GRCm39)	I369T	probably damaging	Het
Yjefn3	A	C	8: 70,342,095 (GRCm39)	F42V	probably damaging	Het
Zfp472	A	T	17: 33,195,257 (GRCm39)	R69*	probably null	Het
Zfp536	T	C	7: 37,178,814 (GRCm39)	S200G	probably benign	Het
Zfp970	T	A	2: 177,166,614 (GRCm39)		probably null	Het

Other mutations in Serping1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:Serping1	APN	2	84,600,529 (GRCm39)	missense	probably damaging	1.00
IGL01791:Serping1	APN	2	84,603,721 (GRCm39)	missense	possibly damaging	0.68
IGL01903:Serping1	APN	2	84,600,116 (GRCm39)	critical splice donor site	probably null
IGL03182:Serping1	APN	2	84,596,162 (GRCm39)	missense	probably damaging	1.00
R0094:Serping1	UTSW	2	84,603,620 (GRCm39)	missense	probably benign	0.00
R0548:Serping1	UTSW	2	84,600,425 (GRCm39)	splice site	probably benign
R0782:Serping1	UTSW	2	84,597,790 (GRCm39)	missense	probably damaging	1.00
R1585:Serping1	UTSW	2	84,601,848 (GRCm39)	missense	probably benign	0.33
R1900:Serping1	UTSW	2	84,601,793 (GRCm39)	missense	probably damaging	0.99
R1965:Serping1	UTSW	2	84,596,072 (GRCm39)	missense	probably damaging	1.00
R1966:Serping1	UTSW	2	84,596,072 (GRCm39)	missense	probably damaging	1.00
R2426:Serping1	UTSW	2	84,600,563 (GRCm39)	missense	probably damaging	0.99
R4997:Serping1	UTSW	2	84,600,629 (GRCm39)	missense	possibly damaging	0.74
R5665:Serping1	UTSW	2	84,601,889 (GRCm39)	missense	probably damaging	0.99
R6192:Serping1	UTSW	2	84,600,612 (GRCm39)	missense	possibly damaging	0.93
R6866:Serping1	UTSW	2	84,600,577 (GRCm39)	missense	probably benign	0.42
R7084:Serping1	UTSW	2	84,603,835 (GRCm39)	missense	probably benign
R7526:Serping1	UTSW	2	84,597,637 (GRCm39)	missense	probably benign
R7707:Serping1	UTSW	2	84,604,043 (GRCm39)	splice site	probably null
R7732:Serping1	UTSW	2	84,600,448 (GRCm39)	missense	probably damaging	1.00
R9480:Serping1	UTSW	2	84,600,487 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GAATTTGCAAGCAGGCATCC -3'
(R):5'- CTTGAGTGGTAAGGGAAACACC -3'

Sequencing Primer
(F):5'- TTTGCAAGCAGGCATCCCATAATG -3'
(R):5'- TAGTGTGCCCTGCCCAATG -3'

Posted On

2014-10-16