Incidental Mutation 'R1218:Flrt2'
| ID |
99848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flrt2
|
| Ensembl Gene |
ENSMUSG00000047414 |
| Gene Name |
fibronectin leucine rich transmembrane protein 2 |
| Synonyms |
|
| MMRRC Submission |
039287-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1218 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
95659000-95751989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95745727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 22
(I22V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057324]
[ENSMUST00000110117]
|
| AlphaFold |
Q8BLU0 |
| PDB Structure |
mouse FLRT2 LRR domain in complex with rat Unc5D Ig1 domain [X-RAY DIFFRACTION]
FLRT2 LRR domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057324
AA Change: I22V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000062171
Gene: ENSMUSG00000047414
AA Change: I22V
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
35 |
67 |
1.51e-4 |
SMART |
|
LRR
|
107 |
131 |
1.29e1 |
SMART |
|
LRR
|
132 |
157 |
4.32e0 |
SMART |
|
LRR
|
159 |
181 |
6.78e1 |
SMART |
|
LRR
|
182 |
202 |
6.97e1 |
SMART |
|
LRR
|
203 |
228 |
7.16e0 |
SMART |
|
LRR
|
252 |
274 |
5.26e0 |
SMART |
|
LRR_TYP
|
275 |
298 |
2.43e-4 |
SMART |
|
LRRCT
|
310 |
361 |
1.17e-7 |
SMART |
|
low complexity region
|
368 |
400 |
N/A |
INTRINSIC |
|
FN3
|
420 |
502 |
5.07e0 |
SMART |
|
transmembrane domain
|
542 |
564 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110117
AA Change: I22V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105744
Gene: ENSMUSG00000047414
AA Change: I22V
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
35 |
67 |
1.51e-4 |
SMART |
|
LRR
|
107 |
131 |
1.29e1 |
SMART |
|
LRR
|
132 |
157 |
4.32e0 |
SMART |
|
LRR
|
159 |
181 |
6.78e1 |
SMART |
|
LRR
|
182 |
202 |
6.97e1 |
SMART |
|
LRR
|
203 |
228 |
7.16e0 |
SMART |
|
LRR
|
252 |
274 |
5.26e0 |
SMART |
|
LRR_TYP
|
275 |
298 |
2.43e-4 |
SMART |
|
LRRCT
|
310 |
361 |
1.17e-7 |
SMART |
|
low complexity region
|
368 |
400 |
N/A |
INTRINSIC |
|
FN3
|
420 |
502 |
5.07e0 |
SMART |
|
transmembrane domain
|
542 |
564 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 97.9%
- 10x: 93.3%
- 20x: 80.5%
|
| Validation Efficiency |
|
| 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 fibronectin leucine rich transmembrane (FLRT) family of cell adhesion molecules, which regulate early embryonic vascular and neural development. The encoded type I transmembrane protein has an extracellular region consisting of an N-terminal leucine-rich repeat domain and a type 3 fibronectin domain, followed by a transmembrane domain and a short C-terminal cytoplasmic tail domain. It functions as both a homophilic cell adhesion molecule and a heterophilic chemorepellent through its interaction with members of the uncoordinated-5 receptor family. Proteolytic removal of the extracellular region controls the migration of neurons in the developing cortex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic, fetal, and postnatel lethality with few mice surviving to weaning due to defects in epicardium, myocardium, and endocardium development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
T |
15: 81,948,353 (GRCm39) |
T750I |
probably benign |
Het |
| 5330417H12Rik |
T |
C |
7: 107,224,024 (GRCm39) |
|
probably benign |
Het |
| 9230109A22Rik |
C |
T |
15: 25,139,024 (GRCm39) |
|
noncoding transcript |
Het |
| Ahnak |
A |
G |
19: 8,992,983 (GRCm39) |
K4756E |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,220,169 (GRCm39) |
|
probably null |
Het |
| Bmp6 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
13: 38,530,226 (GRCm39) |
|
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cbfa2t2 |
A |
T |
2: 154,365,839 (GRCm39) |
M350L |
probably benign |
Het |
| Ceacam20 |
A |
T |
7: 19,710,022 (GRCm39) |
M349L |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,118,495 (GRCm39) |
V768A |
probably benign |
Het |
| Chd1 |
G |
T |
17: 15,945,574 (GRCm39) |
G33C |
probably damaging |
Het |
| Dhx40 |
A |
G |
11: 86,690,310 (GRCm39) |
V237A |
probably benign |
Het |
| Dlst |
G |
T |
12: 85,170,638 (GRCm39) |
D256Y |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,026,678 (GRCm39) |
S1929T |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,654,858 (GRCm39) |
I551N |
probably damaging |
Het |
| Faap100 |
T |
C |
11: 120,269,166 (GRCm39) |
D91G |
probably benign |
Het |
| Fbn1 |
T |
G |
2: 125,254,669 (GRCm39) |
Q198P |
possibly damaging |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| H2bc3 |
A |
G |
13: 23,931,142 (GRCm39) |
Y122C |
probably benign |
Het |
| Inava |
A |
T |
1: 136,142,140 (GRCm39) |
V653E |
probably damaging |
Het |
| Kcnn1 |
T |
C |
8: 71,305,332 (GRCm39) |
I293V |
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Mcpt9 |
G |
T |
14: 56,266,125 (GRCm39) |
Y34* |
probably null |
Het |
| Mepe |
A |
T |
5: 104,474,939 (GRCm39) |
M7L |
probably benign |
Het |
| Mprip |
A |
G |
11: 59,634,640 (GRCm39) |
Y383C |
probably damaging |
Het |
| Mtrex |
G |
A |
13: 113,054,156 (GRCm39) |
A159V |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,083,351 (GRCm39) |
D1438V |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,542,345 (GRCm39) |
Y205C |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,854,693 (GRCm39) |
D510G |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,351 (GRCm39) |
D162G |
probably damaging |
Het |
| Oscp1 |
T |
C |
4: 125,952,532 (GRCm39) |
V20A |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,214 (GRCm39) |
L430P |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,849,808 (GRCm39) |
D354G |
possibly damaging |
Het |
| Rims1 |
C |
A |
1: 22,522,256 (GRCm39) |
V481F |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,785,534 (GRCm39) |
I1719T |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,480,021 (GRCm39) |
H400R |
probably benign |
Het |
| Snx33 |
A |
G |
9: 56,833,269 (GRCm39) |
Y267H |
probably damaging |
Het |
| Sstr1 |
T |
A |
12: 58,260,406 (GRCm39) |
M343K |
possibly damaging |
Het |
| Stx6 |
T |
C |
1: 155,077,737 (GRCm39) |
V248A |
probably benign |
Het |
| Tbx5 |
C |
T |
5: 119,976,785 (GRCm39) |
L58F |
probably damaging |
Het |
| Tmem241 |
A |
G |
18: 12,197,271 (GRCm39) |
Y186H |
probably damaging |
Het |
| Tnfaip8l3 |
T |
C |
9: 53,934,760 (GRCm39) |
K72E |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,753,219 (GRCm39) |
I1848N |
probably damaging |
Het |
| Xrcc6 |
G |
A |
15: 81,907,142 (GRCm39) |
V155I |
probably benign |
Het |
| Zfp458 |
T |
C |
13: 67,404,273 (GRCm39) |
E722G |
probably damaging |
Het |
| Zfyve1 |
G |
T |
12: 83,594,825 (GRCm39) |
H722Q |
possibly damaging |
Het |
|
| Other mutations in Flrt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00806:Flrt2
|
APN |
12 |
95,747,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01083:Flrt2
|
APN |
12 |
95,747,121 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01410:Flrt2
|
APN |
12 |
95,745,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01601:Flrt2
|
APN |
12 |
95,746,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01800:Flrt2
|
APN |
12 |
95,746,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01940:Flrt2
|
APN |
12 |
95,747,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02224:Flrt2
|
APN |
12 |
95,746,802 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02272:Flrt2
|
APN |
12 |
95,746,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Flrt2
|
APN |
12 |
95,746,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0966:Flrt2
|
UTSW |
12 |
95,747,075 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1066:Flrt2
|
UTSW |
12 |
95,745,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:Flrt2
|
UTSW |
12 |
95,746,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Flrt2
|
UTSW |
12 |
95,746,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Flrt2
|
UTSW |
12 |
95,746,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1746:Flrt2
|
UTSW |
12 |
95,747,566 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1842:Flrt2
|
UTSW |
12 |
95,746,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Flrt2
|
UTSW |
12 |
95,745,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Flrt2
|
UTSW |
12 |
95,745,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Flrt2
|
UTSW |
12 |
95,747,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2310:Flrt2
|
UTSW |
12 |
95,746,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3418:Flrt2
|
UTSW |
12 |
95,747,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3419:Flrt2
|
UTSW |
12 |
95,747,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4412:Flrt2
|
UTSW |
12 |
95,747,047 (GRCm39) |
missense |
probably benign |
|
|
R4617:Flrt2
|
UTSW |
12 |
95,747,003 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4674:Flrt2
|
UTSW |
12 |
95,747,462 (GRCm39) |
nonsense |
probably null |
|
|
R5001:Flrt2
|
UTSW |
12 |
95,745,725 (GRCm39) |
missense |
probably benign |
|
|
R5009:Flrt2
|
UTSW |
12 |
95,746,547 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5150:Flrt2
|
UTSW |
12 |
95,745,977 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5179:Flrt2
|
UTSW |
12 |
95,747,121 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5269:Flrt2
|
UTSW |
12 |
95,746,712 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5535:Flrt2
|
UTSW |
12 |
95,747,200 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6172:Flrt2
|
UTSW |
12 |
95,746,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6180:Flrt2
|
UTSW |
12 |
95,746,012 (GRCm39) |
nonsense |
probably null |
|
|
R6867:Flrt2
|
UTSW |
12 |
95,746,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Flrt2
|
UTSW |
12 |
95,747,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7379:Flrt2
|
UTSW |
12 |
95,747,329 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7407:Flrt2
|
UTSW |
12 |
95,746,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Flrt2
|
UTSW |
12 |
95,747,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8065:Flrt2
|
UTSW |
12 |
95,747,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8109:Flrt2
|
UTSW |
12 |
95,747,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8306:Flrt2
|
UTSW |
12 |
95,746,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Flrt2
|
UTSW |
12 |
95,746,331 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9065:Flrt2
|
UTSW |
12 |
95,746,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9090:Flrt2
|
UTSW |
12 |
95,745,907 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9271:Flrt2
|
UTSW |
12 |
95,745,907 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9681:Flrt2
|
UTSW |
12 |
95,745,425 (GRCm39) |
start gained |
probably benign |
|
|
Z1176:Flrt2
|
UTSW |
12 |
95,746,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Flrt2
|
UTSW |
12 |
95,745,686 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACGCTTTGCTTGTGTCGAAAATC -3'
(R):5'- ACTGACTGGACATTGTGCAGCTC -3'
Sequencing Primer
(F):5'- TTTTGCACATGGAGGACCAC -3'
(R):5'- GCAGGAAAGCCAGCATTATTAATTTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation