Mutagenetix > Incidental Mutation

Incidental Mutation 'R9487:Serpinf2'

716685

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

Accession Numbers

Essential gene?

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

Stock #

R9487 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75322562-75330327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75323494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 404 (M404K)

Ref Sequence

ENSEMBL: ENSMUSP00000048704 (fasta)

Gene Model

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

AlphaFold

Q61247

PDB Structure

Structure of antiplasmin [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043696
AA Change: M404K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048704
Gene: ENSMUSG00000038224
AA Change: M404K

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: M404K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104076
Gene: ENSMUSG00000038224
AA Change: M404K

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	C	T	1: 53,221,665 (GRCm39)	D55N	possibly damaging	Het
Abcc2	G	A	19: 43,806,471 (GRCm39)	G762S	probably damaging	Het
Acta2	C	A	19: 34,225,865 (GRCm39)	A110S	probably damaging	Het
Adam26a	T	C	8: 44,022,456 (GRCm39)	T345A	possibly damaging	Het
Anapc11	T	C	11: 120,496,250 (GRCm39)	*85R	probably null	Het
Ang2	A	C	14: 51,433,071 (GRCm39)	C104G	probably damaging	Het
Ankzf1	G	A	1: 75,174,596 (GRCm39)	V529I	probably benign	Het
Aox4	G	T	1: 58,288,097 (GRCm39)	V737F	probably benign	Het
Aqr	T	C	2: 113,934,528 (GRCm39)	N1371S	probably benign	Het
Bach1	T	A	16: 87,526,733 (GRCm39)	S732T	probably benign	Het
Bcr	T	A	10: 74,967,431 (GRCm39)	I555N	probably damaging	Het
Bicra	T	C	7: 15,705,717 (GRCm39)	T1575A	probably damaging	Het
Bop1	A	G	15: 76,338,076 (GRCm39)	L598P	probably damaging	Het
Cacna1d	A	T	14: 29,845,419 (GRCm39)	F605L	possibly damaging	Het
Capn15	C	T	17: 26,184,353 (GRCm39)	V109I	possibly damaging	Het
Cdkn1b	T	C	6: 134,897,815 (GRCm39)		probably benign	Het
Dnah2	T	C	11: 69,406,617 (GRCm39)	T542A	possibly damaging	Het
Dsc2	A	T	18: 20,180,276 (GRCm39)	I159N	probably damaging	Het
Ecel1	A	T	1: 87,075,716 (GRCm39)	V774E	probably damaging	Het
Eif5b	T	G	1: 38,084,560 (GRCm39)	C849W	probably damaging	Het
Eif5b	T	A	1: 38,058,451 (GRCm39)	L251*	probably null	Het
Ext2	T	C	2: 93,592,956 (GRCm39)	D416G	probably damaging	Het
Fancm	G	A	12: 65,153,388 (GRCm39)	W1281*	probably null	Het
Flvcr1	A	T	1: 190,743,829 (GRCm39)	I409K	possibly damaging	Het
Foxk1	T	C	5: 142,437,389 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,560,905 (GRCm39)	I1201F	possibly damaging	Het
Gabra5	A	G	7: 57,157,873 (GRCm39)		probably benign	Het
Gmpr2	G	A	14: 55,915,778 (GRCm39)	V319I	probably damaging	Het
Gna12	A	T	5: 140,746,338 (GRCm39)	L369Q	probably damaging	Het
Gpr160	A	G	3: 30,950,914 (GRCm39)	R329G	probably benign	Het
H2-M10.3	T	C	17: 36,677,423 (GRCm39)	H285R	probably benign	Het
H2-M2	A	T	17: 37,793,424 (GRCm39)	V194E	probably benign	Het
Hephl1	G	A	9: 14,995,830 (GRCm39)	R431W	possibly damaging	Het
Hr	A	G	14: 70,793,877 (GRCm39)	T46A	probably benign	Het
Hr	A	G	14: 70,794,205 (GRCm39)	H126R	possibly damaging	Het
Hsf1	T	G	15: 76,382,398 (GRCm39)	D256E	probably benign	Het
Ifi208	C	T	1: 173,510,961 (GRCm39)	T372I	probably damaging	Het
Ifi47	T	G	11: 48,986,620 (GRCm39)	F129C	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Irag2	A	G	6: 145,120,257 (GRCm39)	I491V	probably benign	Het
Itga11	A	T	9: 62,670,171 (GRCm39)	N765I	probably benign	Het
Klhl22	T	A	16: 17,589,663 (GRCm39)	I108K	probably benign	Het
Lancl1	T	G	1: 67,073,381 (GRCm39)	H34P	probably benign	Het
Lcor	C	A	19: 41,573,685 (GRCm39)	N813K	probably damaging	Het
Mbd3l1	G	A	9: 18,396,274 (GRCm39)	G133D	probably benign	Het
Med12l	T	C	3: 59,155,353 (GRCm39)	F1178L	probably benign	Het
Mrm1	A	T	11: 84,705,531 (GRCm39)	N289K	probably damaging	Het
Myf6	A	G	10: 107,330,073 (GRCm39)	Y165H	probably benign	Het
Myo1g	C	A	11: 6,456,913 (GRCm39)	C971F	probably benign	Het
Myo3a	T	C	2: 22,245,862 (GRCm39)	M3T	probably benign	Het
Nsrp1	G	A	11: 76,937,114 (GRCm39)	R361*	probably null	Het
Or10d4	A	C	9: 39,580,611 (GRCm39)	Q86P	possibly damaging	Het
Or10h1b	C	A	17: 33,395,548 (GRCm39)	H57Q	possibly damaging	Het
Or4a69	T	C	2: 89,312,756 (GRCm39)	H241R	probably damaging	Het
Or4a77	T	C	2: 89,487,731 (GRCm39)	D18G	probably damaging	Het
Or5p6	A	T	7: 107,631,163 (GRCm39)	I129N	possibly damaging	Het
Or8b41	G	A	9: 38,054,866 (GRCm39)	C140Y	probably benign	Het
Or8k53	T	A	2: 86,177,846 (GRCm39)	D88V	probably benign	Het
Oscar	T	G	7: 3,614,663 (GRCm39)	Y103S	probably damaging	Het
Pdpr	A	G	8: 111,852,925 (GRCm39)	N610S	probably benign	Het
Ppp4r3b	T	C	11: 29,124,697 (GRCm39)	I56T	probably damaging	Het
Pxdn	T	A	12: 30,044,552 (GRCm39)	V510D	possibly damaging	Het
Rab11fip5	T	C	6: 85,324,913 (GRCm39)	S465G	possibly damaging	Het
Rasgrf2	T	C	13: 92,267,759 (GRCm39)	T82A	probably benign	Het
Scmh1	G	A	4: 120,320,284 (GRCm39)	W30*	probably null	Het
Sema4g	T	C	19: 44,981,071 (GRCm39)	Y40H	probably benign	Het
Sgk3	T	C	1: 9,950,616 (GRCm39)		probably null	Het
Slc16a5	A	T	11: 115,360,738 (GRCm39)	Y307F	possibly damaging	Het
Slc39a5	G	A	10: 128,233,628 (GRCm39)	L290F	probably damaging	Het
Snx32	A	C	19: 5,547,736 (GRCm39)	D191E	probably damaging	Het
Sp4	T	C	12: 118,262,859 (GRCm39)	I396V	probably benign	Het
Srrd	A	G	5: 112,490,765 (GRCm39)	V42A	unknown	Het
Stim1	A	G	7: 102,080,257 (GRCm39)	H547R	unknown	Het
Svep1	G	A	4: 58,070,517 (GRCm39)	A2423V	probably benign	Het
Tep1	A	G	14: 51,066,687 (GRCm39)	S2304P	possibly damaging	Het
Tkt	C	G	14: 30,281,795 (GRCm39)	S104R	probably benign	Het
Tkt	T	C	14: 30,281,796 (GRCm39)	S105P	probably damaging	Het
Tln1	A	T	4: 43,542,893 (GRCm39)	N1365K	probably damaging	Het
Topaz1	G	T	9: 122,604,707 (GRCm39)	A1104S	probably benign	Het
Trmt2a	A	G	16: 18,068,814 (GRCm39)	H270R	probably damaging	Het
Ttll10	G	T	4: 156,127,616 (GRCm39)	T389K	probably benign	Het
Tubal3	A	G	13: 3,980,674 (GRCm39)	I129V	probably benign	Het
Ucp3	A	G	7: 100,131,123 (GRCm39)	E192G	probably damaging	Het
Usp47	A	G	7: 111,677,063 (GRCm39)	D448G	probably damaging	Het
Vmn2r98	T	A	17: 19,301,496 (GRCm39)	L833M	possibly damaging	Het
Vps13d	A	G	4: 144,807,869 (GRCm39)		probably null	Het
Wdr7	A	G	18: 63,910,939 (GRCm39)	D777G	possibly damaging	Het
Zcchc8	A	G	5: 123,847,300 (GRCm39)	I213T	probably damaging	Het
Zfp281	T	C	1: 136,555,143 (GRCm39)	I707T	probably damaging	Het
Zfp335	T	C	2: 164,735,395 (GRCm39)	H1158R	probably damaging	Het
Zfp692	C	T	11: 58,199,765 (GRCm39)	T118M	probably damaging	Het
Zfr2	T	A	10: 81,075,969 (GRCm39)	L192Q	probably benign	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
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
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'- TGCAAGTTTCAAGTCAGGACC -3'
(R):5'- AGCACTGACCAGTCATCTGC -3'

Sequencing Primer
(F):5'- TTGCCTCCATGGAAGTCAG -3'
(R):5'- GACCAGTCATCTGCTGTTCTGG -3'

Posted On

2022-07-18