Incidental Mutation 'IGL01385:F2rl2'
ID |
79009 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
F2rl2
|
Ensembl Gene |
ENSMUSG00000021675 |
Gene Name |
coagulation factor II thrombin receptor like 2 |
Synonyms |
PAR3, PAR-3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01385
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
95833428-95839276 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 95837836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 294
(I294L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022182
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022182]
[ENSMUST00000068603]
|
AlphaFold |
O08675 |
PDB Structure |
Crystal structure of murine thrombin in complex with the extracellular fragment of murine PAR3 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000022182
AA Change: I294L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000022182 Gene: ENSMUSG00000021675 AA Change: I294L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
110 |
295 |
1.7e-32 |
PFAM |
Pfam:7tm_1
|
297 |
357 |
1e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000068603
|
SMART Domains |
Protein: ENSMUSP00000067685 Gene: ENSMUSG00000021676
Domain | Start | End | E-Value | Type |
CH
|
43 |
152 |
3.32e-16 |
SMART |
coiled coil region
|
253 |
276 |
N/A |
INTRINSIC |
low complexity region
|
469 |
480 |
N/A |
INTRINSIC |
IQ
|
689 |
711 |
1.38e-4 |
SMART |
IQ
|
719 |
741 |
7.36e0 |
SMART |
IQ
|
749 |
771 |
2.43e1 |
SMART |
coiled coil region
|
799 |
828 |
N/A |
INTRINSIC |
RasGAP
|
905 |
1258 |
2.6e-120 |
SMART |
Pfam:RasGAP_C
|
1367 |
1498 |
3.2e-40 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protease-activated receptor (PAR) family which is a subfamily of the seven transmembrane G protein-coupled cell surface receptor family. The encoded protein acts as a cofactor in the thrombin-mediated cleavage and activation of the protease-activated receptor family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012] PHENOTYPE: Homozygous mutation of this gene results in prolonged bleeding times, delayed and reduced thrombin responses in platelets, and protection against thrombosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
T |
19: 57,057,346 (GRCm39) |
S292R |
probably damaging |
Het |
Adamts19 |
A |
G |
18: 59,105,851 (GRCm39) |
T749A |
probably damaging |
Het |
Agap2 |
A |
T |
10: 126,923,865 (GRCm39) |
I747F |
unknown |
Het |
Arhgap35 |
T |
A |
7: 16,298,399 (GRCm39) |
N222I |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,125,256 (GRCm39) |
E1074G |
probably damaging |
Het |
Brd3 |
T |
C |
2: 27,354,101 (GRCm39) |
T4A |
possibly damaging |
Het |
Col6a6 |
A |
G |
9: 105,660,865 (GRCm39) |
S415P |
probably damaging |
Het |
Dennd2a |
A |
G |
6: 39,500,070 (GRCm39) |
V165A |
probably damaging |
Het |
Dnm1l |
T |
A |
16: 16,159,317 (GRCm39) |
E95V |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,817,995 (GRCm39) |
Y1609H |
possibly damaging |
Het |
Esm1 |
A |
C |
13: 113,353,216 (GRCm39) |
E166A |
possibly damaging |
Het |
Gstt3 |
A |
G |
10: 75,610,822 (GRCm39) |
S187P |
probably benign |
Het |
Katna1 |
T |
C |
10: 7,628,574 (GRCm39) |
C268R |
probably damaging |
Het |
Mbd5 |
T |
A |
2: 49,140,233 (GRCm39) |
C66S |
possibly damaging |
Het |
Naa35 |
G |
A |
13: 59,748,880 (GRCm39) |
E167K |
probably damaging |
Het |
Or10ak16 |
T |
C |
4: 118,750,748 (GRCm39) |
L156S |
probably benign |
Het |
Osbpl2 |
A |
G |
2: 179,778,873 (GRCm39) |
N2S |
probably benign |
Het |
Parp6 |
T |
C |
9: 59,537,895 (GRCm39) |
|
probably benign |
Het |
Pcdhb5 |
T |
A |
18: 37,455,267 (GRCm39) |
V549E |
probably benign |
Het |
Pcnx4 |
T |
C |
12: 72,620,520 (GRCm39) |
L780P |
probably damaging |
Het |
Plcb3 |
A |
T |
19: 6,935,276 (GRCm39) |
D851E |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,749,560 (GRCm39) |
S1149G |
probably damaging |
Het |
Prkca |
A |
G |
11: 107,869,178 (GRCm39) |
V469A |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,756,410 (GRCm39) |
V3468D |
probably damaging |
Het |
Spmip3 |
G |
A |
1: 177,568,640 (GRCm39) |
G46R |
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,431,074 (GRCm39) |
V412A |
possibly damaging |
Het |
Vmn1r238 |
G |
T |
18: 3,122,770 (GRCm39) |
Q215K |
possibly damaging |
Het |
Wdr11 |
A |
G |
7: 129,209,637 (GRCm39) |
M482V |
probably benign |
Het |
Wdr72 |
T |
C |
9: 74,086,788 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,340,021 (GRCm39) |
L754P |
probably damaging |
Het |
Zmym6 |
G |
A |
4: 127,017,899 (GRCm39) |
G1135S |
probably benign |
Het |
|
Other mutations in F2rl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0014:F2rl2
|
UTSW |
13 |
95,837,417 (GRCm39) |
missense |
probably damaging |
0.99 |
R0014:F2rl2
|
UTSW |
13 |
95,837,417 (GRCm39) |
missense |
probably damaging |
0.99 |
R0969:F2rl2
|
UTSW |
13 |
95,837,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R1183:F2rl2
|
UTSW |
13 |
95,837,621 (GRCm39) |
missense |
probably damaging |
0.96 |
R1482:F2rl2
|
UTSW |
13 |
95,838,047 (GRCm39) |
missense |
probably benign |
0.02 |
R1753:F2rl2
|
UTSW |
13 |
95,837,969 (GRCm39) |
missense |
probably benign |
0.16 |
R2428:F2rl2
|
UTSW |
13 |
95,833,585 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3151:F2rl2
|
UTSW |
13 |
95,837,638 (GRCm39) |
missense |
probably benign |
0.00 |
R4678:F2rl2
|
UTSW |
13 |
95,837,140 (GRCm39) |
missense |
probably benign |
0.10 |
R5153:F2rl2
|
UTSW |
13 |
95,833,620 (GRCm39) |
missense |
probably benign |
0.00 |
R5229:F2rl2
|
UTSW |
13 |
95,837,195 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5635:F2rl2
|
UTSW |
13 |
95,837,290 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6041:F2rl2
|
UTSW |
13 |
95,837,617 (GRCm39) |
missense |
probably benign |
0.01 |
R6146:F2rl2
|
UTSW |
13 |
95,837,149 (GRCm39) |
missense |
probably benign |
0.08 |
R6974:F2rl2
|
UTSW |
13 |
95,837,038 (GRCm39) |
missense |
probably damaging |
0.97 |
R6993:F2rl2
|
UTSW |
13 |
95,837,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R7833:F2rl2
|
UTSW |
13 |
95,837,426 (GRCm39) |
missense |
probably damaging |
0.96 |
R7869:F2rl2
|
UTSW |
13 |
95,837,519 (GRCm39) |
missense |
probably damaging |
0.99 |
R8187:F2rl2
|
UTSW |
13 |
95,837,911 (GRCm39) |
missense |
probably benign |
0.00 |
R8694:F2rl2
|
UTSW |
13 |
95,837,339 (GRCm39) |
missense |
probably benign |
0.00 |
R9445:F2rl2
|
UTSW |
13 |
95,837,622 (GRCm39) |
missense |
probably benign |
0.28 |
R9694:F2rl2
|
UTSW |
13 |
95,838,050 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Posted On |
2013-11-05 |