Mutagenetix > Incidental Mutation

Incidental Mutation 'R5095:F2'

395803

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000027249

Gene Name

coagulation factor II

Synonyms

FII, Cf2, Cf-2, thrombin, prothrombin

MMRRC Submission

042684-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5095 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

91625320-91636414 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

CAGAAAG to CAG at 91634957 bp (GRCm38)

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021A07Rik	G	C	10: 21,425,593		noncoding transcript	Het
4932415D10Rik	G	T	10: 82,283,667	A4503E	probably damaging	Het
Adgrv1	C	T	13: 81,095,487	V6265I	probably benign	Het
Agbl1	G	A	7: 76,720,133	G660D	probably damaging	Het
Arap2	A	G	5: 62,654,049	Y1140H	probably damaging	Het
Atp6v1c1	T	C	15: 38,679,413		probably null	Het
C1rb	A	T	6: 124,580,313	R470W	possibly damaging	Het
Caskin2	T	C	11: 115,800,738	T1074A	probably benign	Het
Cdh19	T	A	1: 110,954,661	T34S	probably benign	Het
Csnk1a1	T	A	18: 61,575,476	Y175N	probably damaging	Het
Flt4	T	A	11: 49,627,159	V342D	possibly damaging	Het
Frmd5	A	T	2: 121,548,921	C394S	possibly damaging	Het
Gm5414	T	G	15: 101,624,038	N550T	probably benign	Het
Hcn3	C	A	3: 89,149,923	R456L	probably damaging	Het
Htt	T	C	5: 34,824,395	V893A	possibly damaging	Het
Ift46	A	G	9: 44,786,849	D203G	probably damaging	Het
Itga10	G	T	3: 96,648,164	V145L	probably benign	Het
Kcnh6	A	G	11: 106,017,254	D232G	possibly damaging	Het
Mbtd1	T	C	11: 93,929,671	S431P	probably damaging	Het
Mmp27	T	A	9: 7,572,158	W120R	probably damaging	Het
Mmp27	A	T	9: 7,579,000	D418V	probably damaging	Het
Myo5a	A	G	9: 75,152,020	D510G	probably damaging	Het
Myo5a	A	T	9: 75,184,389	K1179*	probably null	Het
Neto1	T	C	18: 86,398,281	S38P	probably benign	Het
Nos3	A	G	5: 24,368,918		probably benign	Het
Nuggc	C	T	14: 65,635,090	R512*	probably null	Het
Oas1e	T	A	5: 120,794,264	K105*	probably null	Het
Olfr135	A	C	17: 38,208,317	E24A	possibly damaging	Het
Olfr512	T	C	7: 108,713,812	F141S	probably damaging	Het
Omd	T	A	13: 49,589,698	S75T	possibly damaging	Het
Pbrm1	A	G	14: 31,032,530	N190S	probably benign	Het
Picalm	T	C	7: 90,170,633	F85L	probably damaging	Het
Polg	A	G	7: 79,460,300	V360A	possibly damaging	Het
Prex1	T	C	2: 166,581,921	D1017G	probably damaging	Het
Prss56	G	C	1: 87,188,111	R569P	probably damaging	Het
Rab6b	G	A	9: 103,140,384	G25R	probably damaging	Het
Rdh10	A	G	1: 16,131,385	T332A	probably benign	Het
Rheb	A	T	5: 24,807,641	M115K	probably benign	Het
Rnf149	A	T	1: 39,555,656	D321E	probably benign	Het
Rps28	C	T	17: 33,823,203		probably null	Het
Slc6a20b	A	G	9: 123,595,054	V616A	probably benign	Het
Smarcc2	A	G	10: 128,469,300	K300R	probably damaging	Het
Sparcl1	C	T	5: 104,085,763	M573I	probably damaging	Het
Srp68	C	T	11: 116,248,747	V459M	probably damaging	Het
Stxbp4	C	T	11: 90,548,975	V346I	probably benign	Het
Syne2	A	G	12: 75,952,826	D2331G	probably damaging	Het
Ttn	A	T	2: 76,734,192	Y28534N	probably damaging	Het
Usp44	A	T	10: 93,846,845	I386F	possibly damaging	Het
Vmn2r15	T	C	5: 109,288,451		probably null	Het
Vmn2r72	T	A	7: 85,737,853	L834F	probably damaging	Het
Vps13b	T	A	15: 35,923,202	I3741K	probably damaging	Het
Zdbf2	A	G	1: 63,309,073	T2204A	possibly damaging	Het
Zfp607b	T	A	7: 27,693,636		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
R0304:F2	UTSW	2	91633233	missense	probably damaging	0.99
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
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'- CAACAGTCTAAGTGCCAGCC -3'
(R):5'- CGCTCCACTAGAGAATGTCCTC -3'

Sequencing Primer
(F):5'- GGCCACATGCAAAGACATCCTTG -3'
(R):5'- AGAGAATGTCCTCTCCCTCAG -3'

Posted On

2016-06-21