Mutagenetix > Incidental Mutations

Incidental Mutation 'R5335:F2'

423455

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000027249

Gene Name

coagulation factor II

Synonyms

FII, Cf2, Cf-2, thrombin, prothrombin

MMRRC Submission

042916-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5335 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91625320-91636414 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91634932 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 96 (K96E)

Ref Sequence

ENSEMBL: ENSMUSP00000028681 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000028681
AA Change: K96E

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028681
Gene: ENSMUSG00000027249
AA Change: K96E

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
AA Change: K96E

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106967
Gene: ENSMUSG00000027249
AA Change: K96E

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (62/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010003K11Rik	A	G	19: 4,498,264	W86R	probably damaging	Het
Als2cr11b	T	A	1: 59,004,234		noncoding transcript	Het
Ankrd6	T	C	4: 32,818,651	E225G	probably damaging	Het
Armc4	A	T	18: 7,294,566	Y16N	probably benign	Het
Atxn10	A	G	15: 85,336,584		probably null	Het
Bcas2	A	G	3: 103,175,635	I146V	probably damaging	Het
Cachd1	G	A	4: 100,968,085	V579I	possibly damaging	Het
Col11a1	A	G	3: 114,095,240	T311A	unknown	Het
Cyp2c50	A	T	19: 40,090,616	L134F	probably benign	Het
Cyp2j11	T	C	4: 96,307,352	H369R	probably damaging	Het
Dis3	A	G	14: 99,097,653	V171A	possibly damaging	Het
Dnah12	A	G	14: 26,879,738	N3718D	probably damaging	Het
Dnah17	T	C	11: 118,112,514	I541V	probably damaging	Het
Eif3i	T	C	4: 129,595,186	D86G	probably benign	Het
Epc1	C	T	18: 6,490,689		probably benign	Het
Epc2	A	G	2: 49,513,230	N110S	probably benign	Het
Epha8	A	T	4: 136,931,935	L831Q	probably damaging	Het
Esd	G	T	14: 74,742,113	R119I	probably damaging	Het
Fcgbp	T	C	7: 28,089,734	V575A	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gemin6	T	C	17: 80,225,755	V39A	probably damaging	Het
Glmp	G	T	3: 88,326,655		probably benign	Het
Gm10306	C	A	4: 94,556,807		probably benign	Het
Gm4846	A	T	1: 166,497,453	L23*	probably null	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Grik1	CGG	CGGG	16: 87,923,194		probably null	Het
Ifi203	T	C	1: 173,926,919	T749A	possibly damaging	Het
Kcnip2	C	A	19: 45,794,246	A133S	probably benign	Het
Limch1	A	T	5: 66,881,957	I76F	probably damaging	Het
Mcph1	T	A	8: 18,689,061		probably null	Het
Myh7	A	G	14: 54,986,563		probably benign	Het
Olfr11	A	C	13: 21,638,779	V248G	probably damaging	Het
Olfr1106	T	G	2: 87,049,165	K24Q	probably damaging	Het
Olfr346	A	T	2: 36,688,094	I31F	probably benign	Het
Olfr54	A	C	11: 51,027,334	N111H	probably benign	Het
Olfr583	A	C	7: 103,051,535	D79A	probably damaging	Het
Olfr601	A	C	7: 103,358,522	L224R	probably damaging	Het
Olfr700	A	C	7: 106,805,734	S243A	probably damaging	Het
Opcml	A	G	9: 28,675,325	D113G	possibly damaging	Het
Pcdhb1	G	T	18: 37,267,255	C753F	probably benign	Het
Phip	T	C	9: 82,900,756	S879G	possibly damaging	Het
Pi4k2b	A	G	5: 52,741,756	D13G	possibly damaging	Het
Ptpn18	A	T	1: 34,463,178	I68F	probably damaging	Het
Rnf168	C	T	16: 32,298,584	T321I	possibly damaging	Het
Soga3	A	T	10: 29,147,106	I150L	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Srgap1	C	T	10: 121,785,377		probably benign	Het
Sry	A	T	Y: 2,663,647	H4Q	probably benign	Het
Taf2	G	A	15: 55,045,740	A703V	probably benign	Het
Taf5l	A	G	8: 124,003,651	F65L	probably damaging	Het
Tcp10b	T	C	17: 13,063,067		probably null	Het
Timm44	A	T	8: 4,266,814	I273N	probably damaging	Het
Tspan4	A	G	7: 141,489,615	T43A	probably damaging	Het
Ube2r2	T	C	4: 41,190,846		probably benign	Het
Urgcp	T	C	11: 5,717,754	T195A	possibly damaging	Het
Vmn1r197	T	C	13: 22,328,191	I94T	probably damaging	Het
Vmn2r15	A	T	5: 109,286,807	I677K	probably damaging	Het
Zfp853	T	A	5: 143,288,563	H434L	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAACAGTCTAAGTGCCAGC -3'
(R):5'- TAGAGAATGTCCTCTCCCTCAG -3'

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

Posted On

2016-08-04