Incidental Mutation 'R0969:F2rl2'
| ID |
83995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F2rl2
|
| Ensembl Gene |
ENSMUSG00000021675 |
| Gene Name |
coagulation factor II thrombin receptor like 2 |
| Synonyms |
PAR3, PAR-3 |
| MMRRC Submission |
039098-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0969 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
95833428-95839276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95837461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 169
(T169S)
|
| 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 damaging
Transcript: ENSMUST00000022182
AA Change: T169S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022182
Gene: ENSMUSG00000021675
AA Change: T169S
| 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 |
|
| Meta Mutation Damage Score |
0.5437 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,277 (GRCm39) |
|
probably null |
Het |
| Afg1l |
T |
C |
10: 42,194,617 (GRCm39) |
T392A |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,219,319 (GRCm39) |
S146P |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,638 (GRCm39) |
|
probably benign |
Het |
| Cd2 |
T |
A |
3: 101,183,371 (GRCm39) |
I313F |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,816,572 (GRCm39) |
D374E |
possibly damaging |
Het |
| Cep85l |
T |
C |
10: 53,157,592 (GRCm39) |
K602E |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,630,526 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
T |
16: 63,386,999 (GRCm39) |
L878Q |
probably damaging |
Het |
| Gpx3 |
T |
C |
11: 54,799,852 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
A |
14: 121,181,937 (GRCm39) |
V1010D |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,321,712 (GRCm39) |
L2647Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5d18 |
T |
C |
2: 87,864,592 (GRCm39) |
D297G |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,263,785 (GRCm39) |
E393G |
probably damaging |
Het |
| Pibf1 |
C |
A |
14: 99,433,822 (GRCm39) |
Q590K |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,886,898 (GRCm39) |
D367G |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,940,965 (GRCm39) |
Y1106H |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
C |
T |
1: 13,060,116 (GRCm39) |
A202T |
probably damaging |
Het |
| Slco6c1 |
A |
C |
1: 97,047,685 (GRCm39) |
I206R |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srek1 |
G |
A |
13: 103,889,011 (GRCm39) |
|
probably benign |
Het |
| St8sia6 |
T |
A |
2: 13,701,680 (GRCm39) |
R112S |
probably benign |
Het |
| Suclg1 |
T |
A |
6: 73,248,099 (GRCm39) |
H273Q |
probably benign |
Het |
| Taf2 |
T |
A |
15: 54,894,553 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,379,840 (GRCm39) |
V566A |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,977,331 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
C |
T |
11: 73,169,764 (GRCm39) |
Q112* |
probably null |
Het |
| Ttll8 |
T |
C |
15: 88,818,138 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Upk1b |
A |
G |
16: 38,607,661 (GRCm39) |
|
probably benign |
Het |
| Zfp961 |
T |
G |
8: 72,722,139 (GRCm39) |
H217Q |
probably damaging |
Het |
|
| Other mutations in F2rl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01385:F2rl2
|
APN |
13 |
95,837,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACATCGTGACCCTGTGGAAACTC -3'
(R):5'- AGCCCAGCCATATCCGATCCTTTG -3'
Sequencing Primer
(F):5'- GTCATCTTTCACACCAACCTGG -3'
(R):5'- TCCTGCTTCAGGATGACAAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation