Mutagenetix > Incidental Mutation

Incidental Mutation 'R2055:F2'

226566

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000027249

Gene Name

coagulation factor II

Synonyms

Cf-2, FII, prothrombin, Cf2, thrombin

MMRRC Submission

040060-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91455665-91466759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91458787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 508 (T508A)

Ref Sequence

ENSEMBL: ENSMUSP00000106967 (fasta)

Gene Model

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

AlphaFold

P19221

Predicted Effect

probably benign
Transcript: ENSMUST00000028681
AA Change: T509A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000028681
Gene: ENSMUSG00000027249
AA Change: T509A

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: T508A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000106967
Gene: ENSMUSG00000027249
AA Change: T508A

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

0.0629

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,107 (GRCm39)	E185G	probably damaging	Het
3425401B19Rik	A	G	14: 32,384,508 (GRCm39)	S486P	probably benign	Het
A630023A22Rik	T	C	14: 33,774,707 (GRCm39)		probably benign	Het
Abca1	T	C	4: 53,069,881 (GRCm39)	N1271S	probably benign	Het
AI597479	C	T	1: 43,150,280 (GRCm39)	A130V	probably benign	Het
Angptl4	A	G	17: 33,999,498 (GRCm39)		probably null	Het
Arhgef25	T	A	10: 127,021,004 (GRCm39)	N294I	probably damaging	Het
Atp2b1	T	C	10: 98,850,421 (GRCm39)	V848A	probably damaging	Het
Bard1	T	C	1: 71,114,031 (GRCm39)	T317A	probably benign	Het
C1rl	T	C	6: 124,470,781 (GRCm39)	W30R	probably benign	Het
Cchcr1	A	G	17: 35,837,317 (GRCm39)	E379G	probably damaging	Het
Cfap36	G	T	11: 29,197,122 (GRCm39)	A3E	probably damaging	Het
Cilp	G	A	9: 65,186,997 (GRCm39)	G1031S	probably damaging	Het
Clca4a	A	G	3: 144,676,489 (GRCm39)	Y64H	probably damaging	Het
Cops5	A	G	1: 10,102,562 (GRCm39)		probably null	Het
Cracr2a	G	T	6: 127,585,564 (GRCm39)	E121*	probably null	Het
Cstf1	A	G	2: 172,222,403 (GRCm39)	E387G	probably benign	Het
D630044L22Rik	A	C	17: 26,180,951 (GRCm39)	D733E	probably damaging	Het
Dlc1	A	T	8: 37,060,535 (GRCm39)	C514S	probably damaging	Het
Dmwd	G	T	7: 18,810,610 (GRCm39)	R139L	probably benign	Het
Dnah17	A	T	11: 117,958,357 (GRCm39)	S2709T	probably benign	Het
Dnmt3a	T	C	12: 3,922,859 (GRCm39)	I154T	probably benign	Het
Dpp7	T	C	2: 25,244,490 (GRCm39)	N297S	possibly damaging	Het
Ern2	A	T	7: 121,783,168 (GRCm39)	V34D	possibly damaging	Het
Erp27	A	G	6: 136,885,227 (GRCm39)		probably benign	Het
Fam181b	A	G	7: 92,729,634 (GRCm39)	T136A	probably benign	Het
Fam227b	C	A	2: 125,942,874 (GRCm39)	V308L	probably benign	Het
Fbxw20	A	T	9: 109,050,442 (GRCm39)	H394Q	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Glt8d1	T	G	14: 30,731,693 (GRCm39)	S111A	probably benign	Het
Gm11146	A	T	16: 77,391,969 (GRCm39)		probably benign	Het
Grip1	C	T	10: 119,885,416 (GRCm39)		probably benign	Het
H2-Q2	A	T	17: 35,564,247 (GRCm39)	T334S	probably benign	Het
Hcrtr1	A	G	4: 130,024,680 (GRCm39)	V402A	probably benign	Het
Hmcn2	C	A	2: 31,268,294 (GRCm39)	A1130D	probably benign	Het
Hsd17b2	T	C	8: 118,428,913 (GRCm39)	L60P	possibly damaging	Het
Htr1f	A	T	16: 64,746,398 (GRCm39)	I298N	probably damaging	Het
Ighmbp2	G	T	19: 3,315,095 (GRCm39)	A775D	probably benign	Het
Kcnn3	A	G	3: 89,428,682 (GRCm39)	T303A	probably damaging	Het
Kiz	C	A	2: 146,733,203 (GRCm39)	Q460K	probably benign	Het
Krt75	C	T	15: 101,481,196 (GRCm39)	V193I	probably benign	Het
Lsp1	G	A	7: 142,043,144 (GRCm39)		probably null	Het
Mfsd12	A	G	10: 81,196,063 (GRCm39)	H146R	probably damaging	Het
Mmp23	T	C	4: 155,736,444 (GRCm39)	K199R	possibly damaging	Het
Naip2	A	G	13: 100,315,880 (GRCm39)	V300A	probably benign	Het
Nbeal1	C	T	1: 60,350,216 (GRCm39)	L2422F	probably damaging	Het
Nbeal2	G	T	9: 110,464,375 (GRCm39)	D1094E	possibly damaging	Het
Nckap5	T	C	1: 125,954,635 (GRCm39)	E639G	probably damaging	Het
Nr4a3	A	G	4: 48,067,771 (GRCm39)	I456V	possibly damaging	Het
Or2t43	A	G	11: 58,457,673 (GRCm39)	F166S	probably damaging	Het
Parp9	G	T	16: 35,773,984 (GRCm39)	V86L	probably damaging	Het
Phactr1	A	G	13: 43,231,416 (GRCm39)	N386S	probably damaging	Het
Pold2	A	T	11: 5,823,516 (GRCm39)	Y304*	probably null	Het
Pou5f2	A	G	13: 78,173,940 (GRCm39)	Y294C	probably benign	Het
Rars1	A	G	11: 35,717,410 (GRCm39)		probably benign	Het
Rbm12b1	A	G	4: 12,145,606 (GRCm39)	E526G	probably benign	Het
Sacs	T	C	14: 61,451,498 (GRCm39)	Y4515H	probably damaging	Het
Sdk2	C	A	11: 113,741,780 (GRCm39)	R813L	probably damaging	Het
Six5	T	C	7: 18,829,154 (GRCm39)	V198A	possibly damaging	Het
Slco1a7	A	T	6: 141,671,181 (GRCm39)	H430Q	probably benign	Het
Spata31e2	A	T	1: 26,724,813 (GRCm39)	N122K	possibly damaging	Het
Spn	A	G	7: 126,736,388 (GRCm39)	S40P	probably damaging	Het
Ssr1	A	G	13: 38,171,761 (GRCm39)		probably benign	Het
Tlr6	C	A	5: 65,111,269 (GRCm39)	C546F	probably damaging	Het
Top1	T	A	2: 160,544,748 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,532 (GRCm39)	S151P	probably damaging	Het
Tubb2b	T	G	13: 34,311,708 (GRCm39)	K362Q	probably benign	Het
Unc13c	T	C	9: 73,643,832 (GRCm39)	T1211A	probably damaging	Het
Vmn1r15	T	C	6: 57,235,729 (GRCm39)	V199A	possibly damaging	Het
Vnn1	A	G	10: 23,776,475 (GRCm39)		probably benign	Het
Vps41	T	A	13: 19,038,786 (GRCm39)	N737K	possibly damaging	Het
Vps50	T	A	6: 3,522,265 (GRCm39)	N144K	probably benign	Het
Zc3h7a	A	T	16: 10,955,340 (GRCm39)	N911K	probably benign	Het
Zkscan7	T	A	9: 122,718,002 (GRCm39)	S132R	probably 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
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
R4902:F2	UTSW	2	91,465,316 (GRCm39)	intron	probably benign
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'- ACTTACCTGGGGTCTTCTGAC -3'
(R):5'- CTTGGGGCCTGACAATCATTTG -3'

Sequencing Primer
(F):5'- CTGACTTGTAAGTGCCCGG -3'
(R):5'- CCTGACAATCATTTGCAGGG -3'

Posted On

2014-09-17