Incidental Mutation 'IGL02224:Flrt2'
| ID |
285263 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Flrt2
|
| Ensembl Gene |
ENSMUSG00000047414 |
| Gene Name |
fibronectin leucine rich transmembrane protein 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02224
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
95659000-95751989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 95746802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 380
(T380K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000057324
AA Change: T380K
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000062171
Gene: ENSMUSG00000047414
AA Change: T380K
| 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 |
possibly damaging
Transcript: ENSMUST00000110117
AA Change: T380K
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105744
Gene: ENSMUSG00000047414
AA Change: T380K
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
A |
13: 4,329,289 (GRCm39) |
T23S |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,726,616 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,361,810 (GRCm39) |
|
probably benign |
Het |
| Atr |
C |
T |
9: 95,760,682 (GRCm39) |
R1051C |
probably damaging |
Het |
| B4galt2 |
T |
C |
4: 117,734,110 (GRCm39) |
D309G |
probably benign |
Het |
| C130026L21Rik |
A |
G |
5: 111,730,291 (GRCm39) |
|
noncoding transcript |
Het |
| Cadm3 |
A |
G |
1: 173,165,628 (GRCm39) |
I344T |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,924,318 (GRCm39) |
T370A |
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,741,534 (GRCm39) |
S2462T |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,937,332 (GRCm39) |
N739Y |
probably benign |
Het |
| Ensa |
T |
C |
3: 95,535,990 (GRCm39) |
S108P |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,545,281 (GRCm39) |
|
probably null |
Het |
| Fbp1 |
T |
A |
13: 63,035,821 (GRCm39) |
T13S |
probably damaging |
Het |
| Gpatch11 |
T |
C |
17: 79,148,522 (GRCm39) |
|
probably benign |
Het |
| Hagh |
A |
G |
17: 25,071,861 (GRCm39) |
D29G |
probably damaging |
Het |
| Hmmr |
T |
C |
11: 40,600,831 (GRCm39) |
Q513R |
unknown |
Het |
| Hoxb8 |
T |
C |
11: 96,173,981 (GRCm39) |
S65P |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,169,271 (GRCm39) |
|
probably benign |
Het |
| Lbp |
A |
G |
2: 158,148,669 (GRCm39) |
N27S |
probably damaging |
Het |
| Msh4 |
G |
A |
3: 153,595,822 (GRCm39) |
T76I |
possibly damaging |
Het |
| Nfat5 |
T |
C |
8: 108,071,447 (GRCm39) |
V281A |
probably benign |
Het |
| Or10ag53 |
C |
T |
2: 87,082,821 (GRCm39) |
S180F |
probably benign |
Het |
| Or13c25 |
A |
T |
4: 52,911,392 (GRCm39) |
V134D |
probably damaging |
Het |
| Or4p20 |
C |
T |
2: 88,254,052 (GRCm39) |
|
probably null |
Het |
| Or5b106 |
T |
A |
19: 13,123,120 (GRCm39) |
K301M |
probably damaging |
Het |
| Or5w16 |
T |
A |
2: 87,576,757 (GRCm39) |
C72* |
probably null |
Het |
| Phf11b |
A |
T |
14: 59,563,515 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,962,575 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,549,064 (GRCm39) |
F66L |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,538,459 (GRCm39) |
H108R |
probably damaging |
Het |
| Spta1 |
C |
A |
1: 174,045,255 (GRCm39) |
|
probably benign |
Het |
| Tmem87b |
A |
G |
2: 128,676,127 (GRCm39) |
I297V |
possibly damaging |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,068 (GRCm39) |
R229G |
probably damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,174,960 (GRCm39) |
R524* |
probably null |
Het |
| Washc2 |
T |
A |
6: 116,197,530 (GRCm39) |
D254E |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp773 |
T |
C |
7: 7,135,975 (GRCm39) |
H207R |
probably benign |
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 |
|
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 |
|
R1218:Flrt2
|
UTSW |
12 |
95,745,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation