Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:F2'

37725

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000027249

Gene Name

coagulation factor II

Synonyms

FII, Cf2, Cf-2, thrombin, prothrombin

MMRRC Submission

038515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91625320-91636414 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91633233 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 128 (I128N)

Ref Sequence

ENSEMBL: ENSMUSP00000028681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028681] [ENSMUST00000111335]

AlphaFold

P19221

PDB Structure

Structural basis of Na+ activation mimicry in murine thrombin [X-RAY DIFFRACTION]
Crystal structure of murine thrombin in complex with the extracellular fragment of murine PAR3 [X-RAY DIFFRACTION]
Crystal structure of murine thrombin in complex with the extracellular fragment of murine PAR4 [X-RAY DIFFRACTION]
Crystal structure of the W215A/E217A mutant of murine thrombin [X-RAY DIFFRACTION]
Crystal structure of murine thrombin mutant W215A/E217A (one molecule in the asymmetric unit) [X-RAY DIFFRACTION]
Crystal structure of murine thrombin mutant W215A/E217A (two molecules in the asymmetric unit) [X-RAY DIFFRACTION]
Crystal structure of murine thrombin mutant W215A/E217A in complex with the extracellular fragment of human PAR1 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028681
AA Change: I128N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028681
Gene: ENSMUSG00000027249
AA Change: I128N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
GLA	25	89	1.91e-30	SMART
KR	107	189	7.47e-37	SMART
KR	213	295	5.09e-30	SMART
Tryp_SPc	360	610	9.99e-84	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111335
AA Change: I128N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106967
Gene: ENSMUSG00000027249
AA Change: I128N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
GLA	25	89	1.91e-30	SMART
KR	107	189	8.01e-37	SMART
KR	212	294	5.09e-30	SMART
Tryp_SPc	359	609	9.99e-84	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153182

Meta Mutation Damage Score

0.2167

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

MGI Phenotype

FUNCTION: This gene encodes a vitamin K-dependent glycoprotein coagulation factor that plays an important role in the process of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that undergoes enzymatic cleavage by the coagulation factor Xa to form an active serine protease that converts soluble fibrinogen to insoluble fibrin clot. Most of the mice lacking the encoded protein die at an embryonic stage due to defects in yolk sac vasculature, while the rare nenonates succumb to hemorrhage on the first postnatal day. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in yolk sac vasculature, internal bleeding, tissue necrosis, and die in mid- to late-gestation, or rarely, a few days after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	C	T	4: 144,520,049	T55I	probably benign	Het
Acod1	T	A	14: 103,054,982	I314N	probably damaging	Het
Actl11	T	A	9: 107,929,768	V430E	probably damaging	Het
Adam19	A	C	11: 46,127,392	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,752,570		probably benign	Het
Akap7	A	T	10: 25,271,552	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,628,981	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,859,801		probably benign	Het
Atm	T	A	9: 53,516,344	I489F	probably benign	Het
AU019823	T	C	9: 50,607,922	D130G	probably damaging	Het
Carmil1	T	C	13: 24,139,341	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,317,248	V939A	probably damaging	Het
Cel	A	C	2: 28,557,771	L377R	probably benign	Het
Clock	A	G	5: 76,226,985	V779A	unknown	Het
Cluap1	G	A	16: 3,929,918		probably benign	Het
Ctif	A	T	18: 75,521,818	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,252,932		probably benign	Het
Cytip	T	C	2: 58,148,246	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 24,864,815	M434T	probably benign	Het
Ddx47	A	G	6: 135,017,220	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,159,115	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,106,793		probably benign	Het
Drc7	A	T	8: 95,059,128	D204V	probably damaging	Het
Dsc3	A	G	18: 19,981,241	Y319H	probably damaging	Het
Eml6	T	C	11: 29,777,441	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,877,806	D365E	probably benign	Het
Ercc2	T	C	7: 19,386,708	I199T	possibly damaging	Het
Exd2	G	A	12: 80,491,240		probably benign	Het
Fam219b	T	C	9: 57,538,876	L123P	probably damaging	Het
Fasn	A	G	11: 120,819,936	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,752,400	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,194,721	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,590,562	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241	T176A	probably benign	Het
Gm20530	T	G	17: 36,094,226		noncoding transcript	Het
Gm4787	A	T	12: 81,378,934	I150N	probably damaging	Het
Grip1	G	A	10: 120,075,471	S618N	probably benign	Het
Hdac9	T	C	12: 34,374,111	K454E	probably damaging	Het
Iars2	T	A	1: 185,287,156	I978F	possibly damaging	Het
Icosl	A	G	10: 78,075,322	Y299C	probably benign	Het
Idi1	T	C	13: 8,890,357	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,291	Q531P	probably damaging	Het
Itih4	T	A	14: 30,890,094		probably null	Het
Izumo4	A	T	10: 80,702,936	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,976,521		probably null	Het
Kynu	A	T	2: 43,679,881	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,592,776	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552	L273R	probably damaging	Het
Max	A	G	12: 76,938,587	L119P	probably benign	Het
Mphosph9	T	C	5: 124,298,829	N484S	probably benign	Het
Mrgprg	A	G	7: 143,765,055	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,421,338	I199F	probably benign	Het
Mtr	C	G	13: 12,222,154		probably null	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Nptx2	A	G	5: 144,553,650		probably benign	Het
Nrip1	T	C	16: 76,292,707	Q654R	possibly damaging	Het
Ocm	A	G	5: 144,024,534	F30L	probably damaging	Het
Olfr1216	G	A	2: 89,013,288	R259W	probably damaging	Het
Olfr1223	A	C	2: 89,144,764	Y86*	probably null	Het
Olfr297	C	T	7: 86,526,987	P77S	probably damaging	Het
Olfr600	G	T	7: 103,346,711	D72E	probably damaging	Het
Oosp1	T	C	19: 11,690,969	M17V	probably benign	Het
Pax1	A	T	2: 147,366,147	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,843,712	H62L	probably benign	Het
Pkd1	C	A	17: 24,585,946	Q3190K	probably damaging	Het
Pkn1	A	C	8: 83,683,607		probably benign	Het
Plin5	T	C	17: 56,115,597	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,482,345	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 65,816,006	D334E	probably benign	Het
Ptov1	A	T	7: 44,863,449		probably null	Het
Rab22a	G	A	2: 173,661,459	V22M	probably damaging	Het
Rictor	T	A	15: 6,786,371		probably null	Het
Sart1	G	T	19: 5,380,531		probably benign	Het
Scn11a	G	A	9: 119,819,862	A45V	probably benign	Het
Serpina5	A	G	12: 104,103,200	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,352,401	G212C	probably damaging	Het
Slc38a4	A	T	15: 97,008,454	M378K	probably damaging	Het
Spata22	T	A	11: 73,340,449	C176*	probably null	Het
Tmc3	G	A	7: 83,596,139	E131K	probably damaging	Het
Trappc10	A	T	10: 78,210,760		probably benign	Het
Uvrag	A	G	7: 98,887,973	F672L	probably benign	Het
Vmn1r121	A	G	7: 21,098,407	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,626	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,410,496	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 13,102,780	M56I	probably benign	Het
Wdr62	T	C	7: 30,242,874	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,430,714	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,725,336		probably benign	Het
Zfp607a	A	T	7: 27,879,212	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,701,188	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,774,434	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,880,624	D1644V	probably benign	Het

Other mutations in F2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02334:F2	APN	2	91633094	missense	probably benign	0.16
IGL02390:F2	APN	2	91632987	missense	possibly damaging	0.81
IGL02859:F2	APN	2	91625742	missense	probably damaging	1.00
IGL02970:F2	APN	2	91625551	missense	possibly damaging	0.95
IGL03278:F2	APN	2	91635182	missense	probably benign	0.01
Sarode	UTSW	2	91635194	missense	probably benign	0.35
R0007:F2	UTSW	2	91630607	missense	probably benign	0.00
R0015:F2	UTSW	2	91630607	missense	probably benign	0.00
R0137:F2	UTSW	2	91625730	missense	probably damaging	1.00
R0211:F2	UTSW	2	91630158	missense	probably damaging	1.00
R0601:F2	UTSW	2	91633311	splice site	probably null
R0830:F2	UTSW	2	91630200	missense	probably benign	0.34
R1693:F2	UTSW	2	91629179	missense	probably damaging	1.00
R1720:F2	UTSW	2	91628830	nonsense	probably null
R1763:F2	UTSW	2	91634906	missense	probably damaging	1.00
R1865:F2	UTSW	2	91635194	missense	probably benign	0.35
R1955:F2	UTSW	2	91633095	missense	probably benign	0.01
R2055:F2	UTSW	2	91628442	missense	probably benign	0.00
R2168:F2	UTSW	2	91628348	missense	probably damaging	0.98
R2230:F2	UTSW	2	91625757	missense	probably benign	0.01
R3916:F2	UTSW	2	91625488	missense	probably damaging	1.00
R4004:F2	UTSW	2	91628396	missense	possibly damaging	0.88
R4134:F2	UTSW	2	91629208	missense	possibly damaging	0.93
R4298:F2	UTSW	2	91629320	critical splice acceptor site	probably null
R4626:F2	UTSW	2	91630670	missense	probably benign	0.07
R4902:F2	UTSW	2	91634971	intron	probably benign
R5093:F2	UTSW	2	91634957	splice site	probably benign
R5095:F2	UTSW	2	91634957	splice site	probably benign
R5140:F2	UTSW	2	91634957	splice site	probably benign
R5229:F2	UTSW	2	91630241	nonsense	probably null
R5271:F2	UTSW	2	91635121	intron	probably benign
R5335:F2	UTSW	2	91634932	missense	possibly damaging	0.68
R7650:F2	UTSW	2	91628396	missense	possibly damaging	0.88
R7762:F2	UTSW	2	91628696	missense	possibly damaging	0.61
R8178:F2	UTSW	2	91630273	splice site	probably null
R8976:F2	UTSW	2	91636393	missense	probably benign
R9458:F2	UTSW	2	91630768	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGGATTGCGGCAGAAGTTCTC -3'
(R):5'- GGAAACTGTGTGCAAAGGCCCTAAG -3'

Sequencing Primer
(F):5'- GGCAGAAGTTCTCCTTCAGGTC -3'
(R):5'- gtgtgcaaaggccctaagATAAC -3'

Posted On

2013-05-23