Incidental Mutation 'R2168:F2'
| ID |
235592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F2
|
| Ensembl Gene |
ENSMUSG00000027249 |
| Gene Name |
coagulation factor II |
| Synonyms |
Cf-2, FII, prothrombin, Cf2, thrombin |
| MMRRC Submission |
040171-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91455665-91466759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91458693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 539
(R539Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028681]
[ENSMUST00000111335]
|
| AlphaFold |
P19221 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028681
AA Change: R540Q
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028681
Gene: ENSMUSG00000027249
AA Change: R540Q
| 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 damaging
Transcript: ENSMUST00000111335
AA Change: R539Q
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106967
Gene: ENSMUSG00000027249
AA Change: R539Q
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (62/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
A |
2: 127,720,701 (GRCm39) |
I188N |
probably damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,131,106 (GRCm39) |
V266A |
probably damaging |
Het |
| Als2cl |
C |
A |
9: 110,717,810 (GRCm39) |
P301H |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Catspere2 |
C |
T |
1: 177,843,477 (GRCm39) |
|
probably benign |
Het |
| Cpsf1 |
A |
T |
15: 76,487,937 (GRCm39) |
N53K |
possibly damaging |
Het |
| Ctsll3 |
C |
T |
13: 60,948,749 (GRCm39) |
G69R |
possibly damaging |
Het |
| Fam78b |
G |
A |
1: 166,906,219 (GRCm39) |
G126D |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,568,120 (GRCm39) |
I1332V |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,109,244 (GRCm39) |
S424L |
probably damaging |
Het |
| Fpr1 |
T |
C |
17: 18,097,471 (GRCm39) |
T173A |
possibly damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,249,960 (GRCm39) |
V386A |
probably benign |
Het |
| Gdap2 |
A |
C |
3: 100,095,199 (GRCm39) |
E269A |
probably benign |
Het |
| Igf2bp2 |
T |
A |
16: 21,898,358 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
T |
C |
13: 107,016,118 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
G |
T |
6: 146,013,176 (GRCm39) |
P2667Q |
probably benign |
Het |
| Itsn2 |
G |
T |
12: 4,683,044 (GRCm39) |
|
probably benign |
Het |
| Jakmip2 |
A |
G |
18: 43,698,995 (GRCm39) |
L488P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,265,858 (GRCm39) |
C248S |
probably damaging |
Het |
| Lrrc17 |
A |
T |
5: 21,780,046 (GRCm39) |
D340V |
probably damaging |
Het |
| Megf9 |
T |
C |
4: 70,351,679 (GRCm39) |
T481A |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,249,015 (GRCm39) |
S184P |
possibly damaging |
Het |
| Msh4 |
A |
T |
3: 153,573,472 (GRCm39) |
Y533* |
probably null |
Het |
| Mug1 |
A |
G |
6: 121,847,458 (GRCm39) |
N612S |
probably benign |
Het |
| Nectin2 |
G |
T |
7: 19,464,539 (GRCm39) |
S288R |
probably damaging |
Het |
| Neurog2 |
A |
T |
3: 127,427,754 (GRCm39) |
H126L |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,423,585 (GRCm39) |
E310V |
probably damaging |
Het |
| Or1f12 |
T |
G |
13: 21,721,422 (GRCm39) |
K251T |
probably damaging |
Het |
| Or4c29 |
A |
G |
2: 88,740,522 (GRCm39) |
S72P |
probably damaging |
Het |
| Or51h7 |
A |
T |
7: 102,591,678 (GRCm39) |
F35L |
probably benign |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Pcdhb7 |
T |
A |
18: 37,476,335 (GRCm39) |
F490L |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,260,653 (GRCm39) |
|
probably benign |
Het |
| Plekhn1 |
T |
A |
4: 156,306,339 (GRCm39) |
D577V |
probably damaging |
Het |
| Prrc2c |
C |
A |
1: 162,537,903 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Pzp |
G |
A |
6: 128,465,010 (GRCm39) |
T1288M |
probably damaging |
Het |
| Radil |
A |
C |
5: 142,492,718 (GRCm39) |
H63Q |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,078,422 (GRCm39) |
S829P |
probably benign |
Het |
| Rd3 |
A |
G |
1: 191,715,488 (GRCm39) |
I88V |
probably damaging |
Het |
| Rfesd |
T |
C |
13: 76,156,244 (GRCm39) |
D54G |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,305,896 (GRCm39) |
K568T |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,650,923 (GRCm39) |
K913N |
probably damaging |
Het |
| Serpina3c |
T |
C |
12: 104,115,628 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
A |
T |
13: 33,850,357 (GRCm39) |
K61N |
probably benign |
Het |
| Skint4 |
A |
T |
4: 111,944,183 (GRCm39) |
|
probably null |
Het |
| Sod1 |
T |
C |
16: 90,017,801 (GRCm39) |
I19T |
possibly damaging |
Het |
| Stfa3 |
C |
A |
16: 36,271,042 (GRCm39) |
G81* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,137,960 (GRCm39) |
T1106A |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,256,917 (GRCm39) |
N1106Y |
probably damaging |
Het |
| Vmn1r217 |
G |
A |
13: 23,298,714 (GRCm39) |
Q63* |
probably null |
Het |
| Vmn2r129 |
A |
T |
4: 156,690,673 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13b |
C |
A |
15: 35,792,334 (GRCm39) |
P2201T |
probably damaging |
Het |
| Vps13b |
C |
A |
15: 35,792,335 (GRCm39) |
P2201Q |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,813,893 (GRCm39) |
|
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,994,887 (GRCm39) |
C503R |
probably damaging |
Het |
| Zfp369 |
T |
C |
13: 65,444,762 (GRCm39) |
V635A |
probably benign |
Het |
| Zfp608 |
A |
T |
18: 55,031,125 (GRCm39) |
Y938* |
probably null |
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 |
|
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'- TCAGATCTCAACACCATGAAAACTT -3'
(R):5'- TCTAGAAGGCTGTCAGGGACA -3'
Sequencing Primer
(F):5'- TCAACACCATGAAAACTTTTATGTTC -3'
(R):5'- GTCAGGGACAATTCTCATCAGGTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation