Incidental Mutation 'R3794:F2rl1'
| ID |
272696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F2rl1
|
| Ensembl Gene |
ENSMUSG00000021678 |
| Gene Name |
F2R like trypsin receptor 1 |
| Synonyms |
Protease-activated receptor-2, coagulation factor II (thrombin) receptor-like 1, Par2, Gpcr11, proteinase-activated receptor-2, PAR-2 |
| MMRRC Submission |
040756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3794 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
95648240-95661735 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95649719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 388
(Y388H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022185]
|
| AlphaFold |
P55086 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022185
AA Change: Y388H
|
| SMART Domains |
Protein: ENSMUSP00000022185
Gene: ENSMUSG00000021678
AA Change: Y388H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srv
|
75 |
363 |
3.8e-12 |
PFAM |
|
Pfam:7TM_GPCR_Srw
|
82 |
364 |
1.2e-10 |
PFAM |
|
Pfam:7tm_1
|
94 |
346 |
1.5e-42 |
PFAM |
|
low complexity region
|
375 |
398 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0824 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (37/38) |
| 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 G-protein coupled receptor 1 family of proteins. The encoded cell surface receptor is activated through proteolytic cleavage of its extracellular amino terminus, resulting in a new amino terminus that acts as a tethered ligand that binds to an extracellular loop domain. Activation of the receptor has been shown to stimulate vascular smooth muscle relaxation, dilate blood vessels, increase blood flow, and lower blood pressure. This protein is also important in the inflammatory response, as well as innate and adaptive immunity. [provided by RefSeq, Jun 2016]
PHENOTYPE: Nullizygous mice may exhibit impaired leukocyte rolling and dendritic cell maturation, altered inflammatory response in various models of acute and chronic inflammatory disease, altered susceptibility to injury and to autoimmune disorders, and abnormal hemodynamic responses and pain thresholds. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
C |
T |
15: 98,496,824 (GRCm39) |
V482I |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,431,486 (GRCm39) |
M1L |
probably damaging |
Het |
| Ceacam13 |
A |
G |
7: 17,747,340 (GRCm39) |
*264W |
probably null |
Het |
| Dennd5b |
A |
T |
6: 149,002,715 (GRCm39) |
D31E |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,654,597 (GRCm39) |
V706A |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,707,630 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
G |
6: 33,452,932 (GRCm39) |
V474G |
probably benign |
Het |
| Fasl |
T |
C |
1: 161,609,306 (GRCm39) |
R17G |
probably benign |
Het |
| Htr1a |
G |
A |
13: 105,580,852 (GRCm39) |
V31M |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Itih3 |
T |
C |
14: 30,640,351 (GRCm39) |
Y319C |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,735,240 (GRCm39) |
|
probably benign |
Het |
| Mobp |
A |
T |
9: 119,997,033 (GRCm39) |
K55* |
probably null |
Het |
| Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,765,739 (GRCm39) |
I1057V |
probably benign |
Het |
| Or10al7 |
A |
G |
17: 38,365,786 (GRCm39) |
Y224H |
probably damaging |
Het |
| Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,214,864 (GRCm39) |
R1257Q |
probably damaging |
Het |
| Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
| Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,221,578 (GRCm39) |
Y351H |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,240,524 (GRCm39) |
E632G |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,837,985 (GRCm39) |
|
probably null |
Het |
| Tex16 |
T |
G |
X: 111,150,375 (GRCm39) |
M1R |
probably null |
Het |
| Tln1 |
G |
T |
4: 43,536,295 (GRCm39) |
A1999D |
probably damaging |
Het |
| Trgv5 |
A |
T |
13: 19,376,694 (GRCm39) |
H47L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,781 (GRCm39) |
V2405I |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,812,007 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
A |
G |
7: 24,269,985 (GRCm39) |
T469A |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,605,070 (GRCm39) |
H612Q |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
Het |
|
| Other mutations in F2rl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01745:F2rl1
|
APN |
13 |
95,650,261 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01996:F2rl1
|
APN |
13 |
95,650,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02987:F2rl1
|
APN |
13 |
95,650,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03053:F2rl1
|
APN |
13 |
95,650,126 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03290:F2rl1
|
APN |
13 |
95,650,097 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
PIT4382001:F2rl1
|
UTSW |
13 |
95,650,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2005:F2rl1
|
UTSW |
13 |
95,649,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4236:F2rl1
|
UTSW |
13 |
95,649,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:F2rl1
|
UTSW |
13 |
95,649,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4741:F2rl1
|
UTSW |
13 |
95,650,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:F2rl1
|
UTSW |
13 |
95,650,477 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4870:F2rl1
|
UTSW |
13 |
95,650,492 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5992:F2rl1
|
UTSW |
13 |
95,650,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6276:F2rl1
|
UTSW |
13 |
95,650,446 (GRCm39) |
nonsense |
probably null |
|
|
R7568:F2rl1
|
UTSW |
13 |
95,650,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:F2rl1
|
UTSW |
13 |
95,650,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8087:F2rl1
|
UTSW |
13 |
95,650,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8281:F2rl1
|
UTSW |
13 |
95,650,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGGAAATGACAGCCCCATGC -3'
(R):5'- GCAACCTTCTGCTCGTAGTG -3'
Sequencing Primer
(F):5'- ATGACAGCCCCATGCATGTTG -3'
(R):5'- TTATTTCCTAATCAAAACCCAGAGGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation