Incidental Mutation 'R2428:F2rl2'
| ID |
250317 |
| 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 |
040390-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
95833428-95839276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95833585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 5
(I5N)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000022182
AA Change: I5N
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022182
Gene: ENSMUSG00000021675
AA Change: I5N
| 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 |
0.1366 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (31/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
A |
3: 36,145,072 (GRCm39) |
A624T |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,439,916 (GRCm39) |
A828V |
possibly damaging |
Het |
| Bag6 |
A |
C |
17: 35,366,151 (GRCm39) |
D1117A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,509,533 (GRCm39) |
C3042S |
probably benign |
Het |
| Ctc1 |
G |
A |
11: 68,918,527 (GRCm39) |
V265I |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,480,961 (GRCm39) |
Y298C |
probably damaging |
Het |
| Dmtn |
G |
A |
14: 70,850,843 (GRCm39) |
R183W |
probably damaging |
Het |
| Gpr137c |
A |
G |
14: 45,516,420 (GRCm39) |
Y336C |
probably damaging |
Het |
| Gstm6 |
T |
A |
3: 107,850,922 (GRCm39) |
I10F |
possibly damaging |
Het |
| Hivep3 |
T |
A |
4: 119,955,705 (GRCm39) |
C1340* |
probably null |
Het |
| Igf1 |
A |
G |
10: 87,700,683 (GRCm39) |
T36A |
probably damaging |
Het |
| Lrch1 |
T |
A |
14: 75,044,985 (GRCm39) |
|
probably benign |
Het |
| Mrpl40 |
A |
T |
16: 18,691,125 (GRCm39) |
I195N |
probably damaging |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Ndufc1 |
A |
C |
3: 51,315,564 (GRCm39) |
|
probably null |
Het |
| Nfasc |
T |
C |
1: 132,523,392 (GRCm39) |
N973S |
possibly damaging |
Het |
| Or4f62 |
G |
A |
2: 111,986,787 (GRCm39) |
V164I |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,675 (GRCm39) |
R188* |
probably null |
Het |
| Or6c212 |
T |
C |
10: 129,558,652 (GRCm39) |
I254V |
probably benign |
Het |
| Or9g19 |
A |
T |
2: 85,600,322 (GRCm39) |
Y59F |
probably damaging |
Het |
| Pkdrej |
C |
A |
15: 85,701,773 (GRCm39) |
E1388* |
probably null |
Het |
| Prrc2b |
T |
A |
2: 32,106,067 (GRCm39) |
D1482E |
probably benign |
Het |
| Relch |
C |
T |
1: 105,673,851 (GRCm39) |
S1080L |
possibly damaging |
Het |
| Sppl2a |
A |
T |
2: 126,754,615 (GRCm39) |
S403R |
possibly damaging |
Het |
| Tespa1 |
A |
G |
10: 130,197,944 (GRCm39) |
D322G |
probably damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,288,569 (GRCm39) |
V373M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,644,517 (GRCm39) |
N13079S |
possibly damaging |
Het |
| Wdr53 |
A |
G |
16: 32,071,008 (GRCm39) |
I118V |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,344,774 (GRCm39) |
M1051T |
probably benign |
Het |
| Zfp784 |
G |
C |
7: 5,041,357 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- TCAGCCTGAGTCATGCACAC -3'
(R):5'- AACCAGATCAAATTGTGTCTTTGGG -3'
Sequencing Primer
(F):5'- TGAGTCATGCACACAGACAG -3'
(R):5'- GGTTCACAGTTTCTAGGAGTTAAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation