Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Serpini2'

390690

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

042644-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75149677-75177385 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75166784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 158 (T158S)

Ref Sequence

ENSEMBL: ENSMUSP00000046943 (fasta)

Gene Model

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

AlphaFold

Q9JK88

Predicted Effect

probably damaging
Transcript: ENSMUST00000039047
AA Change: T158S

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

SMART Domains

Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139
AA Change: T158S

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

Meta Mutation Damage Score

0.1240

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,837,315 (GRCm39)	Y257H	probably damaging	Het
Adam28	C	T	14: 68,855,164 (GRCm39)	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 26,991,732 (GRCm39)	E627K	probably damaging	Het
Atad5	T	A	11: 79,985,502 (GRCm39)	S196R	probably benign	Het
Bcam	T	A	7: 19,490,785 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,962,320 (GRCm39)	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,804,471 (GRCm39)	I190V	probably benign	Het
Ccdc8	T	C	7: 16,728,970 (GRCm39)	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,540,529 (GRCm39)	R68G	probably damaging	Het
Dock3	T	C	9: 106,815,105 (GRCm39)	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007 (GRCm39)	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,700,318 (GRCm39)	V271L	possibly damaging	Het
Eif1ad15	T	C	12: 88,288,071 (GRCm39)	I61V	probably benign	Het
Eif2s2	A	C	2: 154,734,590 (GRCm39)		probably null	Het
Fndc7	A	G	3: 108,788,663 (GRCm39)	S193P	probably damaging	Het
Fzr1	G	A	10: 81,207,253 (GRCm39)		probably benign	Het
Gm17472	T	C	6: 42,957,938 (GRCm39)	I69T	probably damaging	Het
Gmppa	C	A	1: 75,416,015 (GRCm39)	Y137*	probably null	Het
Gpr45	A	G	1: 43,071,809 (GRCm39)	I151V	probably benign	Het
H1f0	G	A	15: 78,912,973 (GRCm39)	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,491,063 (GRCm39)	V114I	probably benign	Het
Impa2	C	A	18: 67,439,797 (GRCm39)	P98Q	probably damaging	Het
Kazn	T	C	4: 141,835,957 (GRCm39)	N573D	unknown	Het
Kcna2	A	T	3: 107,011,656 (GRCm39)	D79V	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kif13a	A	G	13: 46,956,122 (GRCm39)	Y561H	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klra1	T	A	6: 130,352,247 (GRCm39)	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,570,869 (GRCm39)	R318S	probably damaging	Het
Mgat4d	G	A	8: 84,094,837 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,641,312 (GRCm39)		probably null	Het
Nostrin	A	T	2: 69,006,057 (GRCm39)	Q247L	possibly damaging	Het
Obi1	C	T	14: 104,745,466 (GRCm39)	G70E	probably damaging	Het
Obscn	T	C	11: 58,964,443 (GRCm39)	E3033G	probably damaging	Het
Pam	C	A	1: 97,749,642 (GRCm39)	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,795,157 (GRCm39)	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337 (GRCm39)	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ptar1	G	T	19: 23,671,729 (GRCm39)	R44L	probably damaging	Het
Rad51c	T	C	11: 87,288,580 (GRCm39)	H201R	probably benign	Het
Rims2	A	T	15: 39,381,265 (GRCm39)		probably null	Het
Rpl22l1	T	G	3: 28,860,985 (GRCm39)	S67A	possibly damaging	Het
Rps10	A	G	17: 27,849,454 (GRCm39)	S143P	probably damaging	Het
Rundc1	T	C	11: 101,315,967 (GRCm39)	V13A	probably benign	Het
Sephs2	C	A	7: 126,872,564 (GRCm39)	M176I	probably benign	Het
Serpina16	C	T	12: 103,641,189 (GRCm39)	V179I	probably benign	Het
Slc12a3	A	G	8: 95,072,979 (GRCm39)	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,650,436 (GRCm39)	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,136,672 (GRCm39)		probably benign	Het
Tbr1	A	T	2: 61,636,346 (GRCm39)	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,247,064 (GRCm39)		probably null	Het
Tlr12	T	A	4: 128,511,063 (GRCm39)	K396*	probably null	Het
Tmppe	A	G	9: 114,235,026 (GRCm39)	I442V	probably benign	Het
Tubb3	T	C	8: 124,147,607 (GRCm39)	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,416,901 (GRCm39)	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,671,708 (GRCm39)	V482L	possibly damaging	Het
Zfp184	G	T	13: 22,143,452 (GRCm39)	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,192,792 (GRCm39)	V270E	probably damaging	Het
Zfp985	A	T	4: 147,667,438 (GRCm39)	Y102F	probably 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
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
R5614:Serpini2	UTSW	3	75,165,014 (GRCm39)	intron	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'- AGCCATTCAGTTTCCTTGGG -3'
(R):5'- GAGGAATTTTCTGTGTTGAAGTCAC -3'

Sequencing Primer
(F):5'- CCATTCAGTTTCCTTGGGTTGTATAG -3'
(R):5'- TTTTCAGCCATCTCAAAGAAGAAGC -3'

Posted On

2016-06-06