Mutagenetix > Incidental Mutation

Incidental Mutation 'R5614:Serpini2'

438127

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

043275-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75149677-75177385 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 75165014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046943 (fasta)

Gene Model

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

AlphaFold

Q9JK88

Predicted Effect

probably benign
Transcript: ENSMUST00000039047

SMART Domains

Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039047

SMART Domains

Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039047

SMART Domains

Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (62/62)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,132 (GRCm39)	V1712A	probably damaging	Het
Ankmy2	T	C	12: 36,243,783 (GRCm39)	S333P	probably damaging	Het
Arfrp1	A	G	2: 181,001,236 (GRCm39)		probably benign	Het
Atp13a2	A	G	4: 140,719,493 (GRCm39)	T21A	probably benign	Het
Bud23	C	A	5: 135,087,966 (GRCm39)	A152S	probably benign	Het
Cant1	T	C	11: 118,299,569 (GRCm39)	D260G	probably benign	Het
Ces1b	T	C	8: 93,794,836 (GRCm39)	I254M	probably benign	Het
Ces1d	T	C	8: 93,902,832 (GRCm39)	T375A	probably benign	Het
Cfap54	A	G	10: 92,880,911 (GRCm39)	L384P	probably damaging	Het
Chrne	C	T	11: 70,505,879 (GRCm39)	V469I	possibly damaging	Het
Clspn	A	G	4: 126,474,755 (GRCm39)	E968G	probably damaging	Het
Col5a3	A	G	9: 20,694,772 (GRCm39)		probably benign	Het
Dtx4	T	C	19: 12,459,547 (GRCm39)	Y419C	probably damaging	Het
Fam171b	T	A	2: 83,643,217 (GRCm39)	I42N	probably damaging	Het
Fam43a	T	C	16: 30,420,490 (GRCm39)	I358T	possibly damaging	Het
Fasn	T	C	11: 120,704,154 (GRCm39)	S1422G	probably benign	Het
Fig4	A	T	10: 41,148,981 (GRCm39)	V157E	probably damaging	Het
Fus	T	C	7: 127,573,543 (GRCm39)		probably benign	Het
Hmcn2	G	T	2: 31,318,315 (GRCm39)	V3887F	probably damaging	Het
Hmgcll1	A	G	9: 75,988,675 (GRCm39)	Y182C	probably damaging	Het
Hook2	T	A	8: 85,729,137 (GRCm39)	I585N	probably damaging	Het
Iars2	T	C	1: 185,021,705 (GRCm39)	T866A	probably benign	Het
Iqca1l	G	A	5: 24,755,140 (GRCm39)	A330V	probably benign	Het
Lrit1	T	A	14: 36,783,911 (GRCm39)	M413K	probably benign	Het
Myl9	G	A	2: 156,623,083 (GRCm39)		probably benign	Het
Nelfa	A	T	5: 34,077,844 (GRCm39)	L179Q	probably damaging	Het
Nod2	A	T	8: 89,390,824 (GRCm39)	D355V	probably damaging	Het
Npbwr1	A	T	1: 5,987,030 (GRCm39)	S161R	probably damaging	Het
Nxpe2	A	T	9: 48,234,401 (GRCm39)	F289I	probably benign	Het
Odf2	A	G	2: 29,810,879 (GRCm39)	I538M	probably damaging	Het
Osbpl6	T	A	2: 76,398,453 (GRCm39)	V379E	probably damaging	Het
Pkhd1	A	G	1: 20,143,750 (GRCm39)	C3859R	possibly damaging	Het
Rgs1	G	T	1: 144,121,995 (GRCm39)	T99N	probably benign	Het
Rnf6	T	C	5: 146,154,910 (GRCm39)		probably null	Het
Rtp1	C	A	16: 23,249,940 (GRCm39)	Q102K	possibly damaging	Het
Sec24c	T	A	14: 20,732,806 (GRCm39)	V123E	possibly damaging	Het
Stxbp5	A	T	10: 9,636,638 (GRCm39)		probably benign	Het
Tecta	A	G	9: 42,250,351 (GRCm39)	S1809P	probably damaging	Het
Tgfb2	T	A	1: 186,357,710 (GRCm39)	I394F	probably benign	Het
Thg1l	T	C	11: 45,841,054 (GRCm39)	Y175C	possibly damaging	Het
Tmem67	C	A	4: 12,061,755 (GRCm39)	K572N	possibly damaging	Het
Tollip	T	C	7: 141,445,825 (GRCm39)	T19A	probably damaging	Het
Ttn	A	G	2: 76,542,451 (GRCm39)	Y25185H	probably damaging	Het
Vgll2	A	T	10: 51,901,318 (GRCm39)	R83*	probably null	Het
Wfdc8	G	T	2: 164,445,123 (GRCm39)	A164E	probably damaging	Het
Ylpm1	T	C	12: 85,111,718 (GRCm39)		probably benign	Het
Zfp326	T	A	5: 106,036,361 (GRCm39)	S91T	probably damaging	Het
Zfp638	T	C	6: 83,906,623 (GRCm39)	F263L	probably damaging	Het
Zfp800	G	A	6: 28,243,135 (GRCm39)	T610I	probably damaging	Het
Zmym4	A	G	4: 126,804,729 (GRCm39)	F475L	possibly damaging	Het

Other mutations in Serpini2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Serpini2	APN	3	75,156,549 (GRCm39)	missense	probably damaging	1.00
IGL00736:Serpini2	APN	3	75,175,116 (GRCm39)	missense	possibly damaging	0.70
IGL03398:Serpini2	APN	3	75,166,852 (GRCm39)	missense	probably benign	0.00
R0271:Serpini2	UTSW	3	75,153,885 (GRCm39)	missense	probably damaging	1.00
R0545:Serpini2	UTSW	3	75,165,445 (GRCm39)	missense	probably benign	0.04
R2309:Serpini2	UTSW	3	75,166,997 (GRCm39)	missense	probably damaging	0.99
R2435:Serpini2	UTSW	3	75,165,475 (GRCm39)	missense	probably benign	0.00
R2886:Serpini2	UTSW	3	75,166,921 (GRCm39)	missense	probably damaging	1.00
R5054:Serpini2	UTSW	3	75,166,784 (GRCm39)	missense	probably damaging	1.00
R5151:Serpini2	UTSW	3	75,153,820 (GRCm39)	missense	possibly damaging	0.93
R5554:Serpini2	UTSW	3	75,175,295 (GRCm39)	start gained	probably benign
R6413:Serpini2	UTSW	3	75,166,921 (GRCm39)	missense	probably damaging	1.00
R6510:Serpini2	UTSW	3	75,159,875 (GRCm39)	missense	probably damaging	0.97
R6688:Serpini2	UTSW	3	75,166,870 (GRCm39)	missense	possibly damaging	0.88
R7178:Serpini2	UTSW	3	75,165,455 (GRCm39)	missense	probably damaging	1.00
R8491:Serpini2	UTSW	3	75,159,822 (GRCm39)	missense	probably damaging	1.00
R9586:Serpini2	UTSW	3	75,166,891 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCCAGGTTAGAATATAAACAGTGC -3'
(R):5'- GCGAGCACAATATGGTAATGTG -3'

Sequencing Primer
(F):5'- AAACAGTGCTATTTTGGTACCCC -3'
(R):5'- GACATGTCAAGTTTTGGAATTGCC -3'

Posted On

2016-10-26