Mutagenetix > Incidental Mutation

Incidental Mutation 'R0122:Serpinf2'

21108

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

038407-MU

Accession Numbers

Essential gene?

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

Stock #

R0122 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

75322562-75330327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75327372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 185 (L185P)

Ref Sequence

ENSEMBL: ENSMUSP00000114450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043696] [ENSMUST00000108437] [ENSMUST00000128330] [ENSMUST00000142094] [ENSMUST00000173320]

AlphaFold

Q61247

Predicted Effect

probably damaging
Transcript: ENSMUST00000043696
AA Change: L185P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048704
Gene: ENSMUSG00000038224
AA Change: L185P

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: ENSMUST00000108437
AA Change: L185P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104076
Gene: ENSMUSG00000038224
AA Change: L185P

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: ENSMUST00000117392

SMART Domains

Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374

Domain	Start	End	E-Value	Type
Beach	347	589	2.52e-98	SMART
low complexity region	673	704	N/A	INTRINSIC
low complexity region	848	874	N/A	INTRINSIC
low complexity region	1141	1165	N/A	INTRINSIC
low complexity region	1196	1210	N/A	INTRINSIC
low complexity region	1566	1587	N/A	INTRINSIC
WD40	1630	1669	3.19e-7	SMART
WD40	1679	1716	1.18e2	SMART
WD40	1719	1761	7.36e1	SMART
WD40	1764	1807	3.3e1	SMART
WD40	1810	1848	3.58e-1	SMART
WD40	1893	1934	4.26e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000128330
AA Change: L185P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114450
Gene: ENSMUSG00000038224
AA Change: L185P

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: ENSMUST00000132442

SMART Domains

Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374

Domain	Start	End	E-Value	Type
low complexity region	1	7	N/A	INTRINSIC
low complexity region	23	47	N/A	INTRINSIC
low complexity region	78	92	N/A	INTRINSIC
low complexity region	448	469	N/A	INTRINSIC
WD40	512	551	3.19e-7	SMART
WD40	561	598	1.18e2	SMART
WD40	601	670	3.55e1	SMART
Blast:WD40	673	710	3e-14	BLAST
WD40	715	756	4.26e1	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

Predicted Effect

probably benign
Transcript: ENSMUST00000173320

SMART Domains

Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374

Domain	Start	End	E-Value	Type
Beach	347	589	2.52e-98	SMART
low complexity region	673	704	N/A	INTRINSIC
low complexity region	848	874	N/A	INTRINSIC
low complexity region	1141	1165	N/A	INTRINSIC
low complexity region	1196	1210	N/A	INTRINSIC
low complexity region	1566	1587	N/A	INTRINSIC
WD40	1630	1669	3.19e-7	SMART
WD40	1679	1716	1.18e2	SMART
WD40	1719	1761	7.36e1	SMART
WD40	1764	1807	3.3e1	SMART
WD40	1810	1848	3.58e-1	SMART
WD40	1893	1934	4.26e1	SMART

Meta Mutation Damage Score

0.8056

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (78/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
Adam12	T	A	7: 133,614,077 (GRCm39)	I60F	probably benign	Het
Adamts10	A	G	17: 33,747,454 (GRCm39)		probably benign	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Adamts7	A	G	9: 90,061,474 (GRCm39)	E360G	probably damaging	Het
Atn1	A	T	6: 124,720,197 (GRCm39)		probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Baz2b	G	T	2: 59,743,963 (GRCm39)		probably null	Het
Bloc1s6	G	C	2: 122,587,963 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C1qa	T	A	4: 136,625,142 (GRCm39)	T3S	probably benign	Het
Cacna1e	A	T	1: 154,319,647 (GRCm39)	F1351Y	probably damaging	Het
Car9	C	T	4: 43,512,206 (GRCm39)	A356V	probably benign	Het
Ccdc116	T	A	16: 16,960,598 (GRCm39)	D73V	probably damaging	Het
Ces2g	T	C	8: 105,694,932 (GRCm39)	Y518H	probably damaging	Het
Ciz1	A	G	2: 32,261,431 (GRCm39)		probably benign	Het
Cmc1	A	T	9: 117,894,388 (GRCm39)	C29S	probably damaging	Het
Coil	T	A	11: 88,875,833 (GRCm39)		probably benign	Het
Col3a1	C	T	1: 45,380,057 (GRCm39)		probably benign	Het
Cox15	A	G	19: 43,737,229 (GRCm39)	I135T	possibly damaging	Het
Cyld	T	C	8: 89,468,920 (GRCm39)	S564P	probably damaging	Het
Dnah5	T	A	15: 28,378,509 (GRCm39)	N2948K	probably damaging	Het
Dnah7a	G	A	1: 53,436,301 (GRCm39)	R4014W	probably damaging	Het
Dnmt3b	T	C	2: 153,518,618 (GRCm39)	Y594H	probably damaging	Het
Dntt	A	G	19: 41,041,477 (GRCm39)	K387R	possibly damaging	Het
Efcab7	G	A	4: 99,749,560 (GRCm39)		probably benign	Het
Flvcr1	G	T	1: 190,753,423 (GRCm39)	P250T	possibly damaging	Het
Gga2	C	A	7: 121,590,797 (GRCm39)	V504L	probably damaging	Het
Gm12239	T	A	11: 55,906,738 (GRCm39)		noncoding transcript	Het
Gm6327	T	C	16: 12,578,890 (GRCm39)		noncoding transcript	Het
Krt26	G	T	11: 99,224,545 (GRCm39)	Y324*	probably null	Het
Lamb2	A	T	9: 108,363,713 (GRCm39)	H939L	probably benign	Het
Lipo3	C	T	19: 33,600,086 (GRCm39)		probably benign	Het
Mmp1b	G	A	9: 7,386,689 (GRCm39)	T145M	probably damaging	Het
Mrps27	G	T	13: 99,501,736 (GRCm39)	V76L	probably benign	Het
Mup6	T	A	4: 60,003,995 (GRCm39)	Y29*	probably null	Het
Nlrc3	T	C	16: 3,776,822 (GRCm39)	K756E	probably damaging	Het
Nnt	T	C	13: 119,505,133 (GRCm39)	H527R	probably damaging	Het
Nudt8	T	C	19: 4,051,306 (GRCm39)	V59A	probably benign	Het
Ofcc1	A	T	13: 40,434,032 (GRCm39)		probably null	Het
Or10d1	A	T	9: 39,484,020 (GRCm39)	D178E	probably damaging	Het
Or2a25	T	C	6: 42,888,889 (GRCm39)	V144A	probably benign	Het
Or51q1c	T	C	7: 103,652,565 (GRCm39)	W28R	probably damaging	Het
Pdgfd	T	C	9: 6,293,851 (GRCm39)	S142P	probably damaging	Het
Pias4	G	T	10: 80,992,921 (GRCm39)	Q22K	probably damaging	Het
Pin1	T	C	9: 20,573,600 (GRCm39)	I95T	probably benign	Het
Pramel23	A	T	4: 143,424,974 (GRCm39)	D156E	probably benign	Het
Prickle2	G	A	6: 92,388,326 (GRCm39)	Q359*	probably null	Het
Qrich2	G	T	11: 116,337,639 (GRCm39)	Q1950K	possibly damaging	Het
Rab10	C	A	12: 3,359,357 (GRCm39)	G21V	probably damaging	Het
Rbm27	T	A	18: 42,447,033 (GRCm39)		probably benign	Het
Samd4	C	A	14: 47,254,017 (GRCm39)	S160R	probably benign	Het
Scube3	A	C	17: 28,385,502 (GRCm39)		probably benign	Het
Slc16a12	A	G	19: 34,652,264 (GRCm39)	I294T	probably benign	Het
Slc45a3	T	A	1: 131,905,478 (GRCm39)	M167K	probably damaging	Het
Sspo	T	A	6: 48,450,910 (GRCm39)	L2673Q	possibly damaging	Het
Supt3	A	G	17: 45,314,028 (GRCm39)	D139G	probably damaging	Het
Tas1r3	T	C	4: 155,945,290 (GRCm39)	M644V	probably benign	Het
Tgfbi	A	G	13: 56,775,781 (GRCm39)	T276A	probably damaging	Het
Tmem177	T	C	1: 119,838,308 (GRCm39)	I124V	probably benign	Het
Tmprss11f	G	T	5: 86,681,484 (GRCm39)		probably benign	Het
Tmprss3	G	A	17: 31,412,876 (GRCm39)		probably benign	Het
Twf1	A	G	15: 94,484,430 (GRCm39)		probably benign	Het
Uba52	T	A	8: 70,961,951 (GRCm39)	Q166L	probably damaging	Het
Ubr3	G	T	2: 69,809,756 (GRCm39)	G1242V	probably damaging	Het
Unc13d	C	T	11: 115,956,308 (GRCm39)	S835N	probably benign	Het
Ush2a	A	G	1: 188,680,652 (GRCm39)	K4877E	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,662 (GRCm39)	I387V	probably benign	Het
Vps11	A	T	9: 44,265,809 (GRCm39)	I490N	probably damaging	Het
Vstm4	T	A	14: 32,585,768 (GRCm39)		probably null	Het
Zfp110	C	A	7: 12,582,524 (GRCm39)	H391N	possibly damaging	Het
Zfp212	C	T	6: 47,907,957 (GRCm39)	P312L	possibly damaging	Het
Zfp329	A	T	7: 12,544,914 (GRCm39)	H203Q	probably damaging	Het
Zscan12	G	A	13: 21,553,139 (GRCm39)	G321E	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
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
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'- TGGCCTAGCAACCTCAGAGCAAAG -3'
(R):5'- ACAGAAAGAGCCCTGCCTCTAGTG -3'

Sequencing Primer
(F):5'- CTCAGAGCAAAGCTTGCAATG -3'
(R):5'- TGCACAAGGGTGAGGGAG -3'

Posted On

2013-04-11