Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Serpini2'

44741

Institutional Source

Beutler Lab

Gene Symbol

Serpini2

Ensembl Gene

ENSMUSG00000034139

Gene Name

serine (or cysteine) peptidase inhibitor, clade I, member 2

Synonyms

1810006A24Rik

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75242370-75270078 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75258138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 178 (V178A)

Ref Sequence

ENSEMBL: ENSMUSP00000046943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039047]

AlphaFold

Q9JK88

Predicted Effect

probably benign
Transcript: ENSMUST00000039047
AA Change: V178A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139
AA Change: V178A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	31	392	8.75e-130	SMART

Meta Mutation Damage Score

0.2726

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a transgene insertion/deletion encompassing this gene display pancreatic insufficiency characterized by progressive apoptosis of pancreatic acinar cells, postnatal growth retardation, immunological anomalies, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	Het

Other mutations in Serpini2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Serpini2	APN	3	75249242	missense	probably damaging	1.00
IGL00736:Serpini2	APN	3	75267809	missense	possibly damaging	0.70
IGL03398:Serpini2	APN	3	75259545	missense	probably benign	0.00
R0271:Serpini2	UTSW	3	75246578	missense	probably damaging	1.00
R2309:Serpini2	UTSW	3	75259690	missense	probably damaging	0.99
R2435:Serpini2	UTSW	3	75258168	missense	probably benign	0.00
R2886:Serpini2	UTSW	3	75259614	missense	probably damaging	1.00
R5054:Serpini2	UTSW	3	75259477	missense	probably damaging	1.00
R5151:Serpini2	UTSW	3	75246513	missense	possibly damaging	0.93
R5554:Serpini2	UTSW	3	75267988	start gained	probably benign
R5614:Serpini2	UTSW	3	75257707	intron	probably benign
R6413:Serpini2	UTSW	3	75259614	missense	probably damaging	1.00
R6510:Serpini2	UTSW	3	75252568	missense	probably damaging	0.97
R6688:Serpini2	UTSW	3	75259563	missense	possibly damaging	0.88
R7178:Serpini2	UTSW	3	75258148	missense	probably damaging	1.00
R8491:Serpini2	UTSW	3	75252515	missense	probably damaging	1.00
R9586:Serpini2	UTSW	3	75259584	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCATGCAGCTCGGAGAACCATC -3'
(R):5'- ACCAGTGAAAACAGCTCTGTGCAAG -3'

Sequencing Primer
(F):5'- GAGCAGTAACTTGGTTTTCCAC -3'
(R):5'- TGTTCTCCACCCTCTTTATAGGA -3'

Posted On

2013-06-11