Incidental Mutation 'IGL01940:Flrt2'
ID |
180850 |
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 # |
IGL01940
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
95659000-95751989 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95747012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 450
(Y450C)
|
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 damaging
Transcript: ENSMUST00000057324
AA Change: Y450C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000062171 Gene: ENSMUSG00000047414 AA Change: Y450C
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 damaging
Transcript: ENSMUST00000110117
AA Change: Y450C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105744 Gene: ENSMUSG00000047414 AA Change: Y450C
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 |
Abca13 |
T |
C |
11: 9,517,661 (GRCm39) |
|
probably benign |
Het |
Ahnak |
A |
T |
19: 8,983,921 (GRCm39) |
D1735V |
probably benign |
Het |
Alkbh3 |
G |
A |
2: 93,811,940 (GRCm39) |
T231I |
probably damaging |
Het |
Ap4e1 |
T |
C |
2: 126,885,431 (GRCm39) |
V344A |
probably damaging |
Het |
Brip1 |
T |
A |
11: 85,955,792 (GRCm39) |
D907V |
probably benign |
Het |
Clca3a1 |
A |
T |
3: 144,452,737 (GRCm39) |
M582K |
probably benign |
Het |
Csf2 |
G |
T |
11: 54,140,351 (GRCm39) |
P29H |
probably damaging |
Het |
Cyp2d26 |
C |
T |
15: 82,676,758 (GRCm39) |
R196H |
probably benign |
Het |
Dagla |
A |
G |
19: 10,229,535 (GRCm39) |
V575A |
probably benign |
Het |
Dimt1 |
T |
A |
13: 107,085,206 (GRCm39) |
|
probably benign |
Het |
Ei24 |
A |
T |
9: 36,693,687 (GRCm39) |
F288L |
probably damaging |
Het |
Fam107a |
T |
C |
14: 8,298,766 (GRCm38) |
H120R |
probably benign |
Het |
Fancl |
G |
T |
11: 26,409,752 (GRCm39) |
V203F |
probably damaging |
Het |
Fgd6 |
T |
A |
10: 93,925,512 (GRCm39) |
|
probably null |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Ift122 |
A |
G |
6: 115,864,332 (GRCm39) |
|
probably benign |
Het |
Kcnk13 |
A |
G |
12: 100,027,683 (GRCm39) |
S253G |
probably benign |
Het |
Lcp1 |
A |
T |
14: 75,453,805 (GRCm39) |
N469I |
probably benign |
Het |
Lrrc24 |
T |
C |
15: 76,600,257 (GRCm39) |
Y294C |
probably damaging |
Het |
Odam |
C |
A |
5: 88,035,192 (GRCm39) |
S52Y |
possibly damaging |
Het |
Or14j7 |
C |
T |
17: 38,235,177 (GRCm39) |
T240I |
probably damaging |
Het |
Or4a71 |
T |
A |
2: 89,358,154 (GRCm39) |
N200I |
probably damaging |
Het |
Or51i2 |
A |
G |
7: 103,689,129 (GRCm39) |
N42S |
probably damaging |
Het |
Pkd1 |
G |
T |
17: 24,798,720 (GRCm39) |
R2676L |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,064,529 (GRCm39) |
D1915G |
probably damaging |
Het |
Ptbp2 |
A |
G |
3: 119,519,764 (GRCm39) |
V9A |
possibly damaging |
Het |
Ptk2b |
A |
G |
14: 66,396,062 (GRCm39) |
I802T |
probably benign |
Het |
Rabgap1 |
G |
T |
2: 37,377,079 (GRCm39) |
A304S |
probably damaging |
Het |
Sema3f |
T |
C |
9: 107,560,896 (GRCm39) |
|
probably benign |
Het |
Serpinb3a |
A |
T |
1: 106,973,915 (GRCm39) |
V332E |
probably damaging |
Het |
Skil |
T |
A |
3: 31,165,793 (GRCm39) |
M370K |
probably benign |
Het |
Slc25a1 |
T |
A |
16: 17,744,304 (GRCm39) |
Y209F |
probably benign |
Het |
Smim15 |
A |
G |
13: 108,184,164 (GRCm39) |
K57E |
probably damaging |
Het |
Taar3 |
T |
A |
10: 23,825,855 (GRCm39) |
C134S |
probably damaging |
Het |
Tns4 |
C |
T |
11: 98,959,047 (GRCm39) |
S684N |
probably benign |
Het |
Vmn2r58 |
A |
G |
7: 41,487,071 (GRCm39) |
V608A |
probably benign |
Het |
Zbtb26 |
A |
T |
2: 37,325,987 (GRCm39) |
C350S |
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 |
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 |
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 |
2014-05-07 |