Incidental Mutation 'R0748:F2rl3'
| ID |
70228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F2rl3
|
| Ensembl Gene |
ENSMUSG00000050147 |
| Gene Name |
F2R like thrombin or trypsin receptor 3 |
| Synonyms |
PAR4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73488508-73490502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73489379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 202
(Q202R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004494]
[ENSMUST00000058099]
|
| AlphaFold |
O88634 |
| PDB Structure |
Crystal structure of murine thrombin in complex with the extracellular fragment of murine PAR4 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004494
|
| SMART Domains |
Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
|
Pfam:PAH
|
53 |
97 |
2.5e-19 |
PFAM |
|
Pfam:PAH
|
173 |
227 |
4.4e-20 |
PFAM |
|
Pfam:PAH
|
313 |
357 |
1.6e-8 |
PFAM |
|
HDAC_interact
|
384 |
484 |
2.75e-58 |
SMART |
|
low complexity region
|
667 |
688 |
N/A |
INTRINSIC |
|
Pfam:Sin3a_C
|
712 |
1011 |
7.2e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058099
AA Change: Q202R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000054426
Gene: ENSMUSG00000050147
AA Change: Q202R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PDB:2PV9|C
|
51 |
76 |
5e-12 |
PDB |
|
Pfam:7TM_GPCR_Srsx
|
100 |
367 |
4.1e-8 |
PFAM |
|
Pfam:7tm_1
|
106 |
352 |
7.6e-37 |
PFAM |
|
low complexity region
|
369 |
387 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213063
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the protease-activated receptor subfamily, part of the G-protein coupled receptor 1 family of proteins. The encoded receptor is proteolytically processed to reveal an extracellular N-terminal tethered ligand that binds to and activates the receptor. This receptor plays a role in blood coagulation, inflammation and response to pain. Mice lacking a functional copy of this gene exhibit impaired platelet activation and prolonged bleeding times. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mutation of this gene results in prolonged bleeding time and protection against thrombosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,874 (GRCm39) |
V718A |
probably damaging |
Het |
| Amigo1 |
A |
G |
3: 108,095,946 (GRCm39) |
S482G |
probably damaging |
Het |
| Faap100 |
A |
G |
11: 120,262,997 (GRCm39) |
V787A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,977 (GRCm39) |
Q290L |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,446,343 (GRCm39) |
E920G |
probably damaging |
Het |
| Gm9881 |
T |
C |
16: 90,967,313 (GRCm39) |
N137S |
unknown |
Het |
| Hps4 |
A |
G |
5: 112,522,780 (GRCm39) |
E546G |
probably damaging |
Het |
| Htr2b |
A |
G |
1: 86,038,528 (GRCm39) |
I26T |
probably benign |
Het |
| Insr |
A |
C |
8: 3,308,841 (GRCm39) |
M65R |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,761,241 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,813,083 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
C |
2: 162,813,084 (GRCm39) |
|
probably null |
Het |
| Lcn4 |
T |
C |
2: 26,558,359 (GRCm39) |
I175M |
probably damaging |
Het |
| Malt1 |
T |
A |
18: 65,608,331 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
T |
C |
14: 76,348,508 (GRCm39) |
S46P |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,034,571 (GRCm39) |
Y629N |
probably damaging |
Het |
| Or10a49 |
C |
A |
7: 108,468,357 (GRCm39) |
M1I |
probably null |
Het |
| Pcsk6 |
T |
C |
7: 65,688,716 (GRCm39) |
|
probably benign |
Het |
| Rdx |
G |
C |
9: 51,976,160 (GRCm39) |
V33L |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,364,306 (GRCm39) |
L4535P |
probably damaging |
Het |
| Rorb |
T |
A |
19: 18,955,164 (GRCm39) |
T66S |
probably damaging |
Het |
| S100a9 |
T |
C |
3: 90,600,198 (GRCm39) |
D66G |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,446,714 (GRCm39) |
I2920T |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,882,580 (GRCm39) |
N351S |
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,241,164 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,216,988 (GRCm39) |
S489P |
probably damaging |
Het |
| Wars2 |
A |
G |
3: 99,123,888 (GRCm39) |
K250E |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,816,424 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in F2rl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0276:F2rl3
|
UTSW |
8 |
73,489,426 (GRCm39) |
missense |
probably benign |
|
|
R1640:F2rl3
|
UTSW |
8 |
73,489,534 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3123:F2rl3
|
UTSW |
8 |
73,489,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4546:F2rl3
|
UTSW |
8 |
73,489,211 (GRCm39) |
missense |
probably benign |
|
|
R4718:F2rl3
|
UTSW |
8 |
73,489,536 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5000:F2rl3
|
UTSW |
8 |
73,489,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6150:F2rl3
|
UTSW |
8 |
73,489,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6195:F2rl3
|
UTSW |
8 |
73,489,513 (GRCm39) |
missense |
probably benign |
|
|
R6233:F2rl3
|
UTSW |
8 |
73,489,513 (GRCm39) |
missense |
probably benign |
|
|
R7963:F2rl3
|
UTSW |
8 |
73,489,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8422:F2rl3
|
UTSW |
8 |
73,489,813 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8447:F2rl3
|
UTSW |
8 |
73,489,963 (GRCm39) |
makesense |
probably null |
|
|
R9679:F2rl3
|
UTSW |
8 |
73,489,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATCCACCATTCTGCTCATGAAC -3'
(R):5'- GCAGCACATTGCTAGGTGTGAAAG -3'
Sequencing Primer
(F):5'- TGCTCATGAACCTGGCAGTG -3'
(R):5'- TACCAGGGCTGTCAGTCTGAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation