Mutagenetix > Incidental Mutation

Incidental Mutation 'R5681:Serpinf2'

443057

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R5681 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75322562-75330327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75326765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 273 (Y273H)

Ref Sequence

ENSEMBL: ENSMUSP00000114450 (fasta)

Gene Model

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

AlphaFold

Q61247

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043696
AA Change: Y273H

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048704
Gene: ENSMUSG00000038224
AA Change: Y273H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108437
AA Change: Y273H

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104076
Gene: ENSMUSG00000038224
AA Change: Y273H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000128330
AA Change: Y273H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114450
Gene: ENSMUSG00000038224
AA Change: Y273H

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

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.2%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,814,559 (GRCm39)	F45S	possibly damaging	Het
Adora2b	T	A	11: 62,140,067 (GRCm39)	V47E	probably damaging	Het
Amdhd2	A	G	17: 24,375,014 (GRCm39)	I396T	probably damaging	Het
Arhgap5	G	A	12: 52,566,562 (GRCm39)	D1178N	probably benign	Het
Atp10d	T	C	5: 72,404,289 (GRCm39)		probably benign	Het
Baiap3	A	G	17: 25,468,347 (GRCm39)	S264P	probably damaging	Het
Brinp3	A	T	1: 146,777,484 (GRCm39)	I644F	probably benign	Het
Ccdc168	A	T	1: 44,100,624 (GRCm39)	V158D	possibly damaging	Het
Ccdc66	T	C	14: 27,208,698 (GRCm39)	R675G	probably benign	Het
Cnr2	T	G	4: 135,644,000 (GRCm39)	M26R	probably damaging	Het
Col6a2	A	T	10: 76,445,085 (GRCm39)		probably null	Het
Cux1	A	G	5: 136,337,038 (GRCm39)	W696R	probably damaging	Het
D6Ertd527e	A	G	6: 87,088,188 (GRCm39)	N117S	unknown	Het
Dnah12	T	C	14: 26,537,452 (GRCm39)	C2234R	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dock2	T	G	11: 34,199,836 (GRCm39)	I1405L	probably benign	Het
Dsg1c	T	C	18: 20,416,270 (GRCm39)	F724L	probably damaging	Het
Elapor2	T	A	5: 9,509,308 (GRCm39)		probably null	Het
Enoph1	T	C	5: 100,210,136 (GRCm39)		probably null	Het
Epha10	A	T	4: 124,796,359 (GRCm39)	Q356L	unknown	Het
Fbln2	G	T	6: 91,248,778 (GRCm39)	V1148L	probably damaging	Het
Firrm	T	C	1: 163,789,654 (GRCm39)	N627S	probably damaging	Het
Gp2	C	T	7: 119,051,517 (GRCm39)	V233M	possibly damaging	Het
Gtf2ird1	T	A	5: 134,392,172 (GRCm39)	S800C	probably damaging	Het
Hat1	A	G	2: 71,264,553 (GRCm39)		probably null	Het
Hpdl	A	T	4: 116,678,039 (GRCm39)	S141T	probably benign	Het
Klhl29	A	G	12: 5,140,669 (GRCm39)	S658P	possibly damaging	Het
Lifr	T	A	15: 7,220,565 (GRCm39)	I1065N	probably damaging	Het
Lrrn2	G	T	1: 132,864,899 (GRCm39)		probably benign	Het
Marchf9	T	A	10: 126,894,172 (GRCm39)	I144F	probably benign	Het
Mtnr1a	A	G	8: 45,540,974 (GRCm39)	I312V	possibly damaging	Het
Ngf	T	A	3: 102,427,669 (GRCm39)	F139L	probably damaging	Het
Nipbl	T	C	15: 8,330,866 (GRCm39)	I2318V	probably benign	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nphs1	A	G	7: 30,186,050 (GRCm39)	D1227G	probably benign	Het
Olfm3	C	A	3: 114,915,924 (GRCm39)	N285K	probably benign	Het
Or1j1	C	A	2: 36,702,693 (GRCm39)	S137I	probably benign	Het
Or4f60	T	A	2: 111,902,722 (GRCm39)	I69F	probably benign	Het
Or7g35	G	A	9: 19,496,195 (GRCm39)	D121N	probably damaging	Het
Or8b12i	A	G	9: 20,082,091 (GRCm39)	Y259H	probably damaging	Het
Or8b39	C	T	9: 37,996,927 (GRCm39)	S265F	possibly damaging	Het
Osbp2	A	G	11: 3,813,486 (GRCm39)	S128P	probably benign	Het
Otop2	A	T	11: 115,217,685 (GRCm39)	M174L	probably damaging	Het
Pard3	A	G	8: 128,115,914 (GRCm39)	T668A	possibly damaging	Het
Pkhd1	T	C	1: 20,617,685 (GRCm39)	T967A	possibly damaging	Het
Pls1	A	G	9: 95,669,065 (GRCm39)	V52A	probably damaging	Het
Ptcd3	T	C	6: 71,884,643 (GRCm39)	K64R	probably damaging	Het
Pxn	T	C	5: 115,682,593 (GRCm39)	W69R	possibly damaging	Het
Rai14	T	C	15: 10,575,206 (GRCm39)	D584G	probably damaging	Het
Safb	G	A	17: 56,906,000 (GRCm39)		probably benign	Het
Serinc2	A	C	4: 130,158,869 (GRCm39)	L10R	probably damaging	Het
Serpinb12	A	T	1: 106,874,431 (GRCm39)	H52L	probably benign	Het
Serpinb9h	G	A	13: 33,579,812 (GRCm39)	C20Y	probably damaging	Het
Slc2a10	T	A	2: 165,356,660 (GRCm39)	S107T	probably benign	Het
Slc41a3	T	C	6: 90,617,928 (GRCm39)	L318P	probably damaging	Het
Slc6a3	A	T	13: 73,686,854 (GRCm39)	I74F	probably damaging	Het
Snrnp200	G	A	2: 127,067,055 (GRCm39)	G788D	probably damaging	Het
Snx7	A	G	3: 117,640,272 (GRCm39)	I79T	probably benign	Het
Sox11	G	T	12: 27,391,823 (GRCm39)	D195E	probably benign	Het
Ssc4d	A	G	5: 135,999,074 (GRCm39)	L43P	probably damaging	Het
Tab2	A	G	10: 7,795,837 (GRCm39)	I215T	probably damaging	Het
Ttn	C	T	2: 76,660,942 (GRCm39)	V7422I	possibly damaging	Het
Unc13c	A	T	9: 73,453,357 (GRCm39)		probably null	Het
Wdr17	T	C	8: 55,115,904 (GRCm39)	D633G	probably damaging	Het
Wdsub1	A	T	2: 59,683,239 (GRCm39)	M445K	probably damaging	Het
Xpc	A	G	6: 91,481,102 (GRCm39)	F257L	probably 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
R5117:Serpinf2	UTSW	11	75,323,326 (GRCm39)	missense	probably benign	0.28
R5487:Serpinf2	UTSW	11	75,324,031 (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'- CCTCAAAGAAGCTGTGTCCTG -3'
(R):5'- AAGACCAGCTAGATGTCAACCG -3'

Sequencing Primer
(F):5'- TGTGTCCTGGATAGACACAGC -3'
(R):5'- AGCTAGATGTCAACCGGCCAG -3'

Posted On

2016-11-09