Mutagenetix > Incidental Mutations

Incidental Mutation 'R0015:F2'

262078

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000027249

Gene Name

coagulation factor II

Synonyms

FII, Cf2, Cf-2, thrombin, prothrombin

MMRRC Submission

038310-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0015 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

91625320-91636414 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91630607 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 260 (E260G)

Ref Sequence

ENSEMBL: ENSMUSP00000106967 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028681
AA Change: E261G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028681
Gene: ENSMUSG00000027249
AA Change: E261G

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: E260G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106967
Gene: ENSMUSG00000027249
AA Change: E260G

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

0.2568

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

97% (71/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,186,184	R408H	probably damaging	Het
A130050O07Rik	A	G	1: 137,928,656	Y23C	unknown	Het
Adcy3	G	A	12: 4,195,260		probably null	Het
Aldh6a1	G	A	12: 84,441,780	L86F	probably damaging	Het
Arl10	G	T	13: 54,575,957		probably benign	Het
Armc3	A	G	2: 19,296,321		probably null	Het
Astn2	T	G	4: 66,266,382		probably null	Het
Cacna1d	G	A	14: 30,114,971	T804I	probably benign	Het
Ccny	A	C	18: 9,316,682		probably benign	Het
Cdh5	C	T	8: 104,140,927	T612I	probably benign	Het
Cfap58	A	G	19: 48,029,100	M800V	probably benign	Het
Clrn1	A	T	3: 58,846,427	I171K	probably damaging	Het
Cnp	T	A	11: 100,578,908		probably null	Het
Col12a1	T	C	9: 79,651,385	T1933A	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666	S660G	probably benign	Het
Dync1i2	C	A	2: 71,214,484	R13S	probably damaging	Het
Eps8l1	A	T	7: 4,477,557		probably benign	Het
Espn	T	C	4: 152,139,152	T188A	possibly damaging	Het
Fat4	T	A	3: 38,982,503	S3435T	probably damaging	Het
Fchsd1	A	G	18: 37,962,959	C533R	probably benign	Het
Fstl5	G	A	3: 76,322,191	V100M	probably damaging	Het
Gls2	T	G	10: 128,209,350	L572R	probably damaging	Het
Gm20939	A	T	17: 94,876,768	E281D	probably benign	Het
Gpr35	T	G	1: 92,983,232	L222W	probably damaging	Het
Hsf5	C	A	11: 87,657,335	H615N	probably benign	Het
Id2	C	T	12: 25,095,803	D70N	probably damaging	Het
Ints2	T	C	11: 86,249,287	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,662,773	D631A	probably damaging	Het
Klhdc8a	A	G	1: 132,303,005	T203A	probably damaging	Het
Lama4	C	T	10: 39,075,436	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,447,298	L226P	probably damaging	Het
Lifr	T	A	15: 7,188,186		probably null	Het
Lonp1	T	A	17: 56,618,406	Q462L	probably benign	Het
Lypd1	A	G	1: 125,910,438	V48A	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,326	I67T	possibly damaging	Het
Mbd3l1	A	T	9: 18,484,858	D93V	probably benign	Het
Mdh1b	T	C	1: 63,721,800		probably benign	Het
Myh7b	C	T	2: 155,622,286	P569L	probably damaging	Het
Ncapd3	C	A	9: 27,051,809	A470E	probably damaging	Het
Ndrg2	A	G	14: 51,910,445		probably benign	Het
Nprl2	A	T	9: 107,544,419	I209F	probably damaging	Het
Ntrk1	A	G	3: 87,791,750		probably benign	Het
Olfm2	T	C	9: 20,668,741	E268G	probably damaging	Het
Olfr884	T	A	9: 38,047,667	Y148*	probably null	Het
Pcf11	T	A	7: 92,658,317	H881L	probably benign	Het
Pde10a	A	G	17: 8,977,197	D640G	probably damaging	Het
Pde9a	G	A	17: 31,386,356		probably null	Het
Pianp	G	T	6: 125,001,540	G236V	probably damaging	Het
Polr2g	A	G	19: 8,793,652	I160T	probably damaging	Het
Ppp1r3a	A	G	6: 14,717,661	S1085P	possibly damaging	Het
Pter	G	A	2: 13,001,000	G328D	probably damaging	Het
Rad51	T	A	2: 119,116,327	M5K	probably benign	Het
Rbm43	T	A	2: 51,925,667	I181F	probably benign	Het
Rgs12	T	C	5: 35,022,776		probably benign	Het
Rnf213	A	C	11: 119,441,606	D2547A	possibly damaging	Het
Slc20a2	C	A	8: 22,535,345	A21E	probably damaging	Het
Stab2	A	G	10: 86,843,617	S2503P	probably benign	Het
Sv2b	A	T	7: 75,125,641	F479L	probably damaging	Het
Sybu	T	C	15: 44,673,500	R349G	probably damaging	Het
Tead3	T	C	17: 28,341,351	Y2C	probably damaging	Het
Tnrc6c	T	A	11: 117,721,458	N307K	probably damaging	Het
Ubxn11	C	G	4: 134,116,025		probably null	Het
Ust	T	C	10: 8,330,065		probably benign	Het
Vmn2r116	T	A	17: 23,401,849	N852K	probably benign	Het
Zgrf1	T	C	3: 127,555,397		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
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
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

Predicted Primers

PCR Primer
(F):5'- GCGATGGACTCGTCCACATCATAG -3'
(R):5'- CAAGGACAATCTGTCACCTCCACTG -3'

Sequencing Primer
(F):5'- cctacccctagccaggtttc -3'
(R):5'- TCACCTCCACTGGGACAG -3'

Posted On

2015-02-04