Mutagenetix > Incidental Mutation

Incidental Mutation 'R4902:F2'

377853

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000027249

Gene Name

coagulation factor II

Synonyms

Cf-2, FII, prothrombin, Cf2, thrombin

MMRRC Submission

042505-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4902 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

91455665-91466759 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 91465316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106967 (fasta)

Gene Model

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

AlphaFold

P19221

Predicted Effect

probably benign
Transcript: ENSMUST00000028681

SMART Domains

Protein: ENSMUSP00000028681
Gene: ENSMUSG00000027249

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 benign
Transcript: ENSMUST00000111335

SMART Domains

Protein: ENSMUSP00000106967
Gene: ENSMUSG00000027249

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (84/84)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,408 (GRCm39)		noncoding transcript	Het
Adamdec1	T	C	14: 68,809,215 (GRCm39)	N249S	probably damaging	Het
Asxl1	T	A	2: 153,241,751 (GRCm39)	V767E	probably benign	Het
Atp6v1f	T	C	6: 29,470,271 (GRCm39)		probably benign	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,684,501 (GRCm39)	V2A	probably damaging	Het
Chrnb2	A	G	3: 89,668,248 (GRCm39)	C356R	probably damaging	Het
Chtf8	C	T	8: 107,612,424 (GRCm39)	G172R	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dact2	T	A	17: 14,416,991 (GRCm39)	K403M	possibly damaging	Het
Dhx40	A	C	11: 86,662,036 (GRCm39)	L674V	possibly damaging	Het
Dlc1	A	G	8: 37,044,285 (GRCm39)	V1230A	probably damaging	Het
Dnah7b	T	A	1: 46,329,935 (GRCm39)	S3260T	probably benign	Het
Eef1a2	T	A	2: 180,789,881 (GRCm39)	D428V	probably benign	Het
Ehd1	T	C	19: 6,344,273 (GRCm39)	F178L	possibly damaging	Het
Eif4a3l1	T	G	6: 136,306,262 (GRCm39)	V241G	probably benign	Het
Fam186a	T	C	15: 99,844,723 (GRCm39)	D507G	unknown	Het
Fbxo11	G	A	17: 88,372,702 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,419,168 (GRCm39)	M2871L	probably benign	Het
Gabrr2	A	G	4: 33,095,512 (GRCm39)	D442G	probably damaging	Het
Gemin5	A	G	11: 58,055,103 (GRCm39)	I214T	probably benign	Het
Gfra2	A	G	14: 71,204,455 (GRCm39)	N175S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Jhy	C	T	9: 40,808,821 (GRCm39)		probably benign	Het
Krtap5-5	A	T	7: 141,783,156 (GRCm39)	C165S	unknown	Het
Lce1k	T	A	3: 92,714,134 (GRCm39)	T17S	unknown	Het
Map3k1	C	T	13: 111,909,146 (GRCm39)	R268Q	probably damaging	Het
Med13l	T	A	5: 118,883,195 (GRCm39)	H1351Q	probably damaging	Het
Met	T	C	6: 17,546,995 (GRCm39)	V876A	probably damaging	Het
Mical2	T	C	7: 111,936,107 (GRCm39)	S903P	probably benign	Het
Mkks	A	G	2: 136,718,094 (GRCm39)	V396A	probably benign	Het
Mvk	T	C	5: 114,594,060 (GRCm39)	V305A	probably benign	Het
Myo5a	A	G	9: 75,081,360 (GRCm39)	T982A	probably benign	Het
N4bp1	A	G	8: 87,588,311 (GRCm39)	V209A	probably benign	Het
Nfkbib	G	T	7: 28,461,173 (GRCm39)	S158*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Ogfr	A	G	2: 180,235,518 (GRCm39)		probably benign	Het
Or10a3	G	A	7: 108,480,624 (GRCm39)	T63I	probably benign	Het
Or2t43	G	A	11: 58,457,451 (GRCm39)	S240F	possibly damaging	Het
Or8s8	T	C	15: 98,354,796 (GRCm39)	S202P	probably damaging	Het
Pcdhga8	T	A	18: 37,948,978 (GRCm39)	D131E	probably damaging	Het
Plch1	A	G	3: 63,648,264 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ppp1r12a	T	C	10: 108,066,451 (GRCm39)	V214A	probably damaging	Het
Prr5l	A	G	2: 101,628,027 (GRCm39)		probably benign	Het
Prss35	A	G	9: 86,638,175 (GRCm39)	Q315R	probably damaging	Het
Psg29	G	T	7: 16,945,837 (GRCm39)	*469L	probably null	Het
Psmd4	A	G	3: 94,943,170 (GRCm39)	V78A	probably damaging	Het
Rad9a	C	A	19: 4,251,552 (GRCm39)		probably benign	Het
Rfx7	G	T	9: 72,524,573 (GRCm39)	V588F	probably benign	Het
Rnase13	A	C	14: 52,160,052 (GRCm39)	I29S	probably benign	Het
Steap2	T	C	5: 5,725,866 (GRCm39)	N386S	possibly damaging	Het
Ston1	A	G	17: 88,952,680 (GRCm39)	E719G	probably damaging	Het
Stx4a	A	G	7: 127,441,934 (GRCm39)		probably null	Het
Tekt2	A	G	4: 126,217,263 (GRCm39)	S212P	possibly damaging	Het
Tex19.2	A	T	11: 121,007,782 (GRCm39)	L222Q	probably damaging	Het
Tmem50a	A	G	4: 134,637,017 (GRCm39)	I38T	probably damaging	Het
Ubr2	A	G	17: 47,296,922 (GRCm39)	V286A	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,159 (GRCm39)	M255T	possibly damaging	Het
Vmn2r17	T	A	5: 109,601,220 (GRCm39)	F839L	probably benign	Het
Wdr36	T	C	18: 32,992,314 (GRCm39)	V617A	possibly damaging	Het
Wtip	A	T	7: 33,818,437 (GRCm39)		probably null	Het
Yeats2	G	A	16: 20,026,418 (GRCm39)	G765S	probably benign	Het
Zbtb3	T	C	19: 8,781,331 (GRCm39)	S315P	probably benign	Het
Zdhhc8	T	C	16: 18,045,030 (GRCm39)	M259V	probably benign	Het
Zfp120	A	G	2: 149,961,440 (GRCm39)		probably benign	Het
Zfp236	A	T	18: 82,627,543 (GRCm39)	I1552N	possibly damaging	Het

Other mutations in F2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02334:F2	APN	2	91,463,439 (GRCm39)	missense	probably benign	0.16
IGL02390:F2	APN	2	91,463,332 (GRCm39)	missense	possibly damaging	0.81
IGL02859:F2	APN	2	91,456,087 (GRCm39)	missense	probably damaging	1.00
IGL02970:F2	APN	2	91,455,896 (GRCm39)	missense	possibly damaging	0.95
IGL03278:F2	APN	2	91,465,527 (GRCm39)	missense	probably benign	0.01
Sarode	UTSW	2	91,465,539 (GRCm39)	missense	probably benign	0.35
R0007:F2	UTSW	2	91,460,952 (GRCm39)	missense	probably benign	0.00
R0015:F2	UTSW	2	91,460,952 (GRCm39)	missense	probably benign	0.00
R0137:F2	UTSW	2	91,456,075 (GRCm39)	missense	probably damaging	1.00
R0211:F2	UTSW	2	91,460,503 (GRCm39)	missense	probably damaging	1.00
R0304:F2	UTSW	2	91,463,578 (GRCm39)	missense	probably damaging	0.99
R0601:F2	UTSW	2	91,463,656 (GRCm39)	splice site	probably null
R0830:F2	UTSW	2	91,460,545 (GRCm39)	missense	probably benign	0.34
R1693:F2	UTSW	2	91,459,524 (GRCm39)	missense	probably damaging	1.00
R1720:F2	UTSW	2	91,459,175 (GRCm39)	nonsense	probably null
R1763:F2	UTSW	2	91,465,251 (GRCm39)	missense	probably damaging	1.00
R1865:F2	UTSW	2	91,465,539 (GRCm39)	missense	probably benign	0.35
R1955:F2	UTSW	2	91,463,440 (GRCm39)	missense	probably benign	0.01
R2055:F2	UTSW	2	91,458,787 (GRCm39)	missense	probably benign	0.00
R2168:F2	UTSW	2	91,458,693 (GRCm39)	missense	probably damaging	0.98
R2230:F2	UTSW	2	91,456,102 (GRCm39)	missense	probably benign	0.01
R3916:F2	UTSW	2	91,455,833 (GRCm39)	missense	probably damaging	1.00
R4004:F2	UTSW	2	91,458,741 (GRCm39)	missense	possibly damaging	0.88
R4134:F2	UTSW	2	91,459,553 (GRCm39)	missense	possibly damaging	0.93
R4298:F2	UTSW	2	91,459,665 (GRCm39)	critical splice acceptor site	probably null
R4626:F2	UTSW	2	91,461,015 (GRCm39)	missense	probably benign	0.07
R5093:F2	UTSW	2	91,465,302 (GRCm39)	splice site	probably benign
R5095:F2	UTSW	2	91,465,302 (GRCm39)	splice site	probably benign
R5140:F2	UTSW	2	91,465,302 (GRCm39)	splice site	probably benign
R5229:F2	UTSW	2	91,460,586 (GRCm39)	nonsense	probably null
R5271:F2	UTSW	2	91,465,466 (GRCm39)	intron	probably benign
R5335:F2	UTSW	2	91,465,277 (GRCm39)	missense	possibly damaging	0.68
R7650:F2	UTSW	2	91,458,741 (GRCm39)	missense	possibly damaging	0.88
R7762:F2	UTSW	2	91,459,041 (GRCm39)	missense	possibly damaging	0.61
R8178:F2	UTSW	2	91,460,618 (GRCm39)	splice site	probably null
R8976:F2	UTSW	2	91,466,738 (GRCm39)	missense	probably benign
R9458:F2	UTSW	2	91,461,113 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCACTGGAGATACCACTTGAGC -3'
(R):5'- GTGTTCTGGGCCAAGTACAC -3'

Sequencing Primer
(F):5'- CTGGAGATACCACTTGAGCCATGG -3'
(R):5'- TTCTGGGCCAAGTACACAGGTG -3'

Posted On

2016-04-15