Mutagenetix > Incidental Mutation

Incidental Mutation 'R5117:Serpinf2'

392693

Institutional Source

Beutler Lab

Gene Symbol

Serpinf2

Ensembl Gene

ENSMUSG00000038224

Gene Name

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

Synonyms

Pli, alpha 2 antiplasmin

MMRRC Submission

042705-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5117 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75322562-75330327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75323326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 460 (D460G)

Ref Sequence

ENSEMBL: ENSMUSP00000104076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043696] [ENSMUST00000108437] [ENSMUST00000128330] [ENSMUST00000142094]

AlphaFold

Q61247

Predicted Effect

probably benign
Transcript: ENSMUST00000043696
AA Change: D460G

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048704
Gene: ENSMUSG00000038224
AA Change: D460G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	91	436	1.5e-137	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108437
AA Change: D460G

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104076
Gene: ENSMUSG00000038224
AA Change: D460G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	91	436	1.5e-137	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119634

Predicted Effect

probably benign
Transcript: ENSMUST00000128330

SMART Domains

Protein: ENSMUSP00000114450
Gene: ENSMUSG00000038224

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	91	280	1.07e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142094

SMART Domains

Protein: ENSMUSP00000120812
Gene: ENSMUSG00000038224

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

100% (67/67)

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 serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene have an essentially normal phenotype. Spontaneous lysis of blood clots occurs more readily but bleeding times are unaffected. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	G	A	9: 124,055,715 (GRCm39)	T403I	probably benign	Het
4921509C19Rik	T	C	2: 151,314,460 (GRCm39)	E406G	probably benign	Het
Abca8b	T	C	11: 109,857,629 (GRCm39)	E641G	probably damaging	Het
Agrn	T	C	4: 156,270,010 (GRCm39)	N49S	probably benign	Het
Cacna1b	A	G	2: 24,622,340 (GRCm39)	S215P	probably damaging	Het
Cacna1g	T	A	11: 94,323,329 (GRCm39)	I1292F	probably damaging	Het
Card14	T	A	11: 119,229,076 (GRCm39)	I662N	probably damaging	Het
Cep135	A	G	5: 76,779,276 (GRCm39)	K762R	probably benign	Het
Ces1b	A	G	8: 93,799,837 (GRCm39)		probably null	Het
Erich6	T	G	3: 58,530,626 (GRCm39)	I448L	probably benign	Het
Fads3	T	G	19: 10,019,322 (GRCm39)		probably null	Het
Fam234a	A	G	17: 26,432,512 (GRCm39)	F546L	probably benign	Het
Fbxl9	T	A	8: 106,039,492 (GRCm39)	R595*	probably null	Het
Gm10717	T	C	9: 3,025,625 (GRCm39)	L70S	probably benign	Het
Gm11787	G	T	4: 3,509,524 (GRCm39)		noncoding transcript	Het
Gm5519	A	G	19: 33,802,471 (GRCm39)	*171W	probably null	Het
Grid2	T	C	6: 63,233,917 (GRCm39)	I26T	probably benign	Het
Hmcn2	T	G	2: 31,348,061 (GRCm39)	C4902W	possibly damaging	Het
Hsp90aa1	T	C	12: 110,661,698 (GRCm39)	N106S	possibly damaging	Het
Il18	A	T	9: 50,492,809 (GRCm39)	N125I	possibly damaging	Het
Ints9	G	T	14: 65,230,540 (GRCm39)	E156*	probably null	Het
Kalrn	T	C	16: 33,853,971 (GRCm39)		probably null	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Lipo3	A	T	19: 33,536,952 (GRCm39)	M256K	probably benign	Het
Mapk6	C	A	9: 75,305,017 (GRCm39)	M133I	possibly damaging	Het
Med21	T	A	6: 146,548,781 (GRCm39)		probably benign	Het
Myrf	T	A	19: 10,189,857 (GRCm39)	E984V	probably damaging	Het
Naga	A	C	15: 82,221,657 (GRCm39)	M28R	probably damaging	Het
Nphp4	T	G	4: 152,608,689 (GRCm39)		probably null	Het
Nr1h4	T	C	10: 89,314,284 (GRCm39)	N295D	probably damaging	Het
Or10j27	T	C	1: 172,958,484 (GRCm39)	Q100R	possibly damaging	Het
Or13n4	A	T	7: 106,422,869 (GRCm39)	I288N	probably damaging	Het
Or55b3	T	C	7: 102,126,709 (GRCm39)	M123V	probably damaging	Het
Parp9	C	A	16: 35,792,202 (GRCm39)		probably null	Het
Pax4	T	C	6: 28,446,278 (GRCm39)	I72V	probably benign	Het
Pcdh7	A	G	5: 57,879,090 (GRCm39)	I542V	probably benign	Het
Pcdhgb7	C	T	18: 37,885,939 (GRCm39)	R370W	probably damaging	Het
Pik3r1	G	A	13: 101,828,744 (GRCm39)	T18I	probably benign	Het
Ppara	A	G	15: 85,661,962 (GRCm39)	I68V	probably benign	Het
Ptch2	T	A	4: 116,963,146 (GRCm39)	I211N	probably damaging	Het
Senp6	G	A	9: 80,038,028 (GRCm39)	V715M	probably damaging	Het
Serf2	C	T	2: 121,281,184 (GRCm39)	P41L	possibly damaging	Het
Serpina12	T	C	12: 104,004,009 (GRCm39)	I208V	possibly damaging	Het
Sh3d21	T	C	4: 126,045,665 (GRCm39)	E338G	probably damaging	Het
Slc7a11	T	C	3: 50,333,599 (GRCm39)	D384G	probably damaging	Het
Snx15	A	G	19: 6,174,181 (GRCm39)		probably null	Het
Supt16	A	G	14: 52,420,549 (GRCm39)	F84L	probably damaging	Het
Tamalin	A	G	15: 101,128,418 (GRCm39)	D152G	probably damaging	Het
Thoc2l	A	G	5: 104,668,121 (GRCm39)	Y881C	probably damaging	Het
Tm9sf2	C	A	14: 122,380,913 (GRCm39)	Q169K	probably benign	Het
Trim56	A	T	5: 137,142,832 (GRCm39)	V228E	probably benign	Het
Triqk	T	A	4: 12,980,390 (GRCm39)		probably null	Het
Ttc21a	T	A	9: 119,795,631 (GRCm39)	I1155N	possibly damaging	Het
Ube3b	T	G	5: 114,557,692 (GRCm39)	Y1059D	probably damaging	Het
Vmn2r14	T	C	5: 109,363,961 (GRCm39)	T652A	probably benign	Het
Wdr4	A	G	17: 31,718,798 (GRCm39)	V304A	probably benign	Het
Wwp2	T	C	8: 108,280,694 (GRCm39)	S646P	possibly damaging	Het
Zfand5	T	A	19: 21,257,009 (GRCm39)	S130T	probably benign	Het
Zfp599	A	T	9: 22,161,396 (GRCm39)	Y256*	probably null	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfyve16	T	A	13: 92,642,197 (GRCm39)	I1209L	possibly damaging	Het

Other mutations in Serpinf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Serpinf2	APN	11	75,327,333 (GRCm39)	missense	possibly damaging	0.58
IGL01367:Serpinf2	APN	11	75,328,871 (GRCm39)	missense	probably benign
IGL01382:Serpinf2	APN	11	75,328,863 (GRCm39)	unclassified	probably benign
R0122:Serpinf2	UTSW	11	75,327,372 (GRCm39)	missense	probably damaging	1.00
R0135:Serpinf2	UTSW	11	75,327,219 (GRCm39)	missense	probably damaging	1.00
R1864:Serpinf2	UTSW	11	75,328,309 (GRCm39)	missense	possibly damaging	0.74
R2202:Serpinf2	UTSW	11	75,327,588 (GRCm39)	missense	probably benign	0.07
R3082:Serpinf2	UTSW	11	75,328,354 (GRCm39)	missense	probably benign	0.19
R5487:Serpinf2	UTSW	11	75,324,031 (GRCm39)	missense	probably damaging	0.99
R5681:Serpinf2	UTSW	11	75,326,765 (GRCm39)	missense	probably damaging	0.99
R5764:Serpinf2	UTSW	11	75,328,230 (GRCm39)	missense	possibly damaging	0.94
R5868:Serpinf2	UTSW	11	75,324,065 (GRCm39)	missense	probably benign	0.00
R6349:Serpinf2	UTSW	11	75,323,257 (GRCm39)	missense	probably damaging	1.00
R6364:Serpinf2	UTSW	11	75,327,315 (GRCm39)	missense	probably damaging	1.00
R6488:Serpinf2	UTSW	11	75,328,329 (GRCm39)	missense	probably benign
R6701:Serpinf2	UTSW	11	75,323,269 (GRCm39)	missense	probably damaging	0.97
R7034:Serpinf2	UTSW	11	75,329,244 (GRCm39)	unclassified	probably benign
R7036:Serpinf2	UTSW	11	75,329,244 (GRCm39)	unclassified	probably benign
R9147:Serpinf2	UTSW	11	75,323,418 (GRCm39)	missense	probably damaging	1.00
R9148:Serpinf2	UTSW	11	75,323,418 (GRCm39)	missense	probably damaging	1.00
R9487:Serpinf2	UTSW	11	75,323,494 (GRCm39)	missense	probably damaging	0.97
R9509:Serpinf2	UTSW	11	75,328,895 (GRCm39)	missense	probably benign	0.01
R9578:Serpinf2	UTSW	11	75,327,615 (GRCm39)	missense	probably benign	0.07
YA93:Serpinf2	UTSW	11	75,323,510 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTACACTGGTGATGGTCCTTCC -3'
(R):5'- AGCCATGAATCGAATGTCCC -3'

Sequencing Primer
(F):5'- TCCCACAAAGCTGGTTAGAAAGAGTC -3'
(R):5'- ATGAATCGAATGTCCCTCTCC -3'

Posted On

2016-06-15