Incidental Mutation 'R2423:F11r'
| ID |
249422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F11r
|
| Ensembl Gene |
ENSMUSG00000038235 |
| Gene Name |
F11 receptor |
| Synonyms |
JAM-A, Jcam1, Ly106, BV11 antigen, ESTM33, JAM-1 |
| MMRRC Submission |
040385-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R2423 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
171265129-171292161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 171289191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 218
(Y218N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043839]
|
| AlphaFold |
O88792 |
| PDB Structure |
SOLUBLE PART OF THE JUNCTION ADHESION MOLECULE FROM MOUSE [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043839
AA Change: Y218N
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041907
Gene: ENSMUSG00000038235
AA Change: Y218N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IGv
|
44 |
110 |
9.93e-8 |
SMART |
|
IGc2
|
143 |
219 |
1.82e-6 |
SMART |
|
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155913
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased dendritic cell migratory ability and contact hypersensitivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer2 |
T |
C |
14: 60,616,656 (GRCm39) |
S284P |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,462,532 (GRCm39) |
V614A |
probably benign |
Het |
| Arhgap9 |
A |
T |
10: 127,162,993 (GRCm39) |
|
probably null |
Het |
| Brf1 |
G |
A |
12: 112,963,819 (GRCm39) |
A53V |
probably benign |
Het |
| Cyp1a2 |
C |
T |
9: 57,587,232 (GRCm39) |
R353Q |
probably damaging |
Het |
| Deup1 |
G |
T |
9: 15,503,754 (GRCm39) |
S269* |
probably null |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,855,071 (GRCm39) |
E1430V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,795,274 (GRCm39) |
K2986R |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,780,584 (GRCm39) |
V494L |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,992,727 (GRCm39) |
T293I |
probably damaging |
Het |
| Neto2 |
C |
T |
8: 86,396,396 (GRCm39) |
R83Q |
probably damaging |
Het |
| Ocm |
A |
T |
5: 143,961,388 (GRCm39) |
|
probably null |
Het |
| Or52z14 |
C |
T |
7: 103,253,241 (GRCm39) |
R127C |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,140,477 (GRCm39) |
I702T |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rbbp8nl |
A |
T |
2: 179,922,764 (GRCm39) |
S210T |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,813,774 (GRCm39) |
I340F |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,388,724 (GRCm39) |
L216P |
possibly damaging |
Het |
| Slc26a10 |
T |
A |
10: 127,015,606 (GRCm39) |
|
probably null |
Het |
| Slc34a1 |
G |
A |
13: 55,556,865 (GRCm39) |
A235T |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,010,772 (GRCm39) |
T2089A |
probably benign |
Het |
| Srek1 |
G |
C |
13: 103,889,536 (GRCm39) |
S260* |
probably null |
Het |
| Sspo |
T |
C |
6: 48,430,989 (GRCm39) |
V624A |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,349,795 (GRCm39) |
I251V |
probably benign |
Het |
| Tmem248 |
T |
C |
5: 130,258,403 (GRCm39) |
I32T |
probably damaging |
Het |
| Tnk1 |
T |
G |
11: 69,746,587 (GRCm39) |
T209P |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,250 (GRCm39) |
R142* |
probably null |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vldlr |
C |
T |
19: 27,213,688 (GRCm39) |
T125I |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,378,087 (GRCm39) |
T1033A |
probably benign |
Het |
| Wiz |
A |
C |
17: 32,580,859 (GRCm39) |
H197Q |
probably damaging |
Het |
|
| Other mutations in F11r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:F11r
|
APN |
1 |
171,290,510 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01431:F11r
|
APN |
1 |
171,290,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:F11r
|
UTSW |
1 |
171,288,847 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0486:F11r
|
UTSW |
1 |
171,288,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:F11r
|
UTSW |
1 |
171,289,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1984:F11r
|
UTSW |
1 |
171,289,438 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3545:F11r
|
UTSW |
1 |
171,288,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3840:F11r
|
UTSW |
1 |
171,288,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3841:F11r
|
UTSW |
1 |
171,288,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:F11r
|
UTSW |
1 |
171,288,916 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4744:F11r
|
UTSW |
1 |
171,288,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4775:F11r
|
UTSW |
1 |
171,289,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6384:F11r
|
UTSW |
1 |
171,288,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8052:F11r
|
UTSW |
1 |
171,289,191 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8215:F11r
|
UTSW |
1 |
171,290,656 (GRCm39) |
makesense |
probably null |
|
|
R8217:F11r
|
UTSW |
1 |
171,290,656 (GRCm39) |
makesense |
probably null |
|
|
R8377:F11r
|
UTSW |
1 |
171,265,111 (GRCm39) |
start gained |
probably benign |
|
|
R8963:F11r
|
UTSW |
1 |
171,288,505 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9154:F11r
|
UTSW |
1 |
171,289,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF063:F11r
|
UTSW |
1 |
171,288,758 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAGACCCCTGAGAGTGGG -3'
(R):5'- TCAGTGTTACCAGGACAGCTG -3'
Sequencing Primer
(F):5'- GAAGAAACATCAGGGCTCTCTTAAG -3'
(R):5'- TTACCAGGACAGCTGCCACG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation