Incidental Mutation 'R5335:F2'
| ID |
423455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F2
|
| Ensembl Gene |
ENSMUSG00000027249 |
| Gene Name |
coagulation factor II |
| Synonyms |
Cf-2, FII, prothrombin, Cf2, thrombin |
| MMRRC Submission |
042916-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5335 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91455665-91466759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91465277 bp (GRCm39)
|
| 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]
|
| AlphaFold |
P19221 |
| 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: 4,548,292 (GRCm39) |
W86R |
probably damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,818,651 (GRCm39) |
E225G |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,220,785 (GRCm39) |
|
probably null |
Het |
| Bcas2 |
A |
G |
3: 103,082,951 (GRCm39) |
I146V |
probably damaging |
Het |
| C2cd6 |
T |
A |
1: 59,043,393 (GRCm39) |
|
noncoding transcript |
Het |
| Cachd1 |
G |
A |
4: 100,825,282 (GRCm39) |
V579I |
possibly damaging |
Het |
| Col11a1 |
A |
G |
3: 113,888,889 (GRCm39) |
T311A |
unknown |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,060 (GRCm39) |
L134F |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,195,589 (GRCm39) |
H369R |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,335,089 (GRCm39) |
V171A |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,601,695 (GRCm39) |
N3718D |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,003,340 (GRCm39) |
I541V |
probably damaging |
Het |
| Eif3i |
T |
C |
4: 129,488,979 (GRCm39) |
D86G |
probably benign |
Het |
| Epc1 |
C |
T |
18: 6,490,689 (GRCm39) |
|
probably benign |
Het |
| Epc2 |
A |
G |
2: 49,403,242 (GRCm39) |
N110S |
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,659,246 (GRCm39) |
L831Q |
probably damaging |
Het |
| Esd |
G |
T |
14: 74,979,553 (GRCm39) |
R119I |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,789,159 (GRCm39) |
V575A |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gemin6 |
T |
C |
17: 80,533,184 (GRCm39) |
V39A |
probably damaging |
Het |
| Glmp |
G |
T |
3: 88,233,962 (GRCm39) |
|
probably benign |
Het |
| Gm10306 |
C |
A |
4: 94,445,044 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
A |
T |
1: 166,325,022 (GRCm39) |
L23* |
probably null |
Het |
| Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
| Ifi203 |
T |
C |
1: 173,754,485 (GRCm39) |
T749A |
possibly damaging |
Het |
| Kcnip2 |
C |
A |
19: 45,782,685 (GRCm39) |
A133S |
probably benign |
Het |
| Limch1 |
A |
T |
5: 67,039,300 (GRCm39) |
I76F |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,739,077 (GRCm39) |
|
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtcl3 |
A |
T |
10: 29,023,102 (GRCm39) |
I150L |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,224,020 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,294,566 (GRCm39) |
Y16N |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,621 (GRCm39) |
D113G |
possibly damaging |
Het |
| Or1j17 |
A |
T |
2: 36,578,106 (GRCm39) |
I31F |
probably benign |
Het |
| Or1x2 |
A |
C |
11: 50,918,161 (GRCm39) |
N111H |
probably benign |
Het |
| Or2ag18 |
A |
C |
7: 106,404,941 (GRCm39) |
S243A |
probably damaging |
Het |
| Or2b6 |
A |
C |
13: 21,822,949 (GRCm39) |
V248G |
probably damaging |
Het |
| Or51f1d |
A |
C |
7: 102,700,742 (GRCm39) |
D79A |
probably damaging |
Het |
| Or52s19 |
A |
C |
7: 103,007,729 (GRCm39) |
L224R |
probably damaging |
Het |
| Or5j1 |
T |
G |
2: 86,879,509 (GRCm39) |
K24Q |
probably damaging |
Het |
| Pcdhb1 |
G |
T |
18: 37,400,308 (GRCm39) |
C753F |
probably benign |
Het |
| Phip |
T |
C |
9: 82,782,809 (GRCm39) |
S879G |
possibly damaging |
Het |
| Pi4k2b |
A |
G |
5: 52,899,098 (GRCm39) |
D13G |
possibly damaging |
Het |
| Ptpn18 |
A |
T |
1: 34,502,259 (GRCm39) |
I68F |
probably damaging |
Het |
| Rnf168 |
C |
T |
16: 32,117,402 (GRCm39) |
T321I |
possibly damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Srgap1 |
C |
T |
10: 121,621,282 (GRCm39) |
|
probably benign |
Het |
| Sry |
A |
T |
Y: 2,663,647 (GRCm39) |
H4Q |
probably benign |
Het |
| Taf2 |
G |
A |
15: 54,909,136 (GRCm39) |
A703V |
probably benign |
Het |
| Taf5l |
A |
G |
8: 124,730,390 (GRCm39) |
F65L |
probably damaging |
Het |
| Tcp10b |
T |
C |
17: 13,281,954 (GRCm39) |
|
probably null |
Het |
| Timm44 |
A |
T |
8: 4,316,814 (GRCm39) |
I273N |
probably damaging |
Het |
| Tspan4 |
A |
G |
7: 141,069,528 (GRCm39) |
T43A |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,190,846 (GRCm39) |
|
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,754 (GRCm39) |
T195A |
possibly damaging |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,361 (GRCm39) |
I94T |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,673 (GRCm39) |
I677K |
probably damaging |
Het |
| Zfp853 |
T |
A |
5: 143,274,318 (GRCm39) |
H434L |
unknown |
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 |
|
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 |
|
|
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'- CCAACAGTCTAAGTGCCAGC -3'
(R):5'- TAGAGAATGTCCTCTCCCTCAG -3'
Sequencing Primer
(F):5'- GGCCACATGCAAAGACATCCTTG -3'
(R):5'- CAGACCTTGTTGCTGTTGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation