Incidental Mutation 'IGL02272:Flrt2'
| ID |
287174 |
| 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 # |
IGL02272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
95659000-95751989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95746478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 272
(F272Y)
|
| 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: F272Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062171
Gene: ENSMUSG00000047414
AA Change: F272Y
| 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: F272Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105744
Gene: ENSMUSG00000047414
AA Change: F272Y
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,757,021 (GRCm39) |
C759* |
probably null |
Het |
| Adgrg6 |
T |
A |
10: 14,344,573 (GRCm39) |
M127L |
probably damaging |
Het |
| Anxa9 |
A |
G |
3: 95,213,205 (GRCm39) |
V47A |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,912,748 (GRCm39) |
D483V |
probably damaging |
Het |
| Arrdc3 |
C |
A |
13: 81,039,769 (GRCm39) |
|
probably benign |
Het |
| Ccdc169 |
A |
G |
3: 55,058,169 (GRCm39) |
E67G |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,780,385 (GRCm39) |
V731D |
possibly damaging |
Het |
| Cdh3 |
G |
T |
8: 107,274,468 (GRCm39) |
|
probably null |
Het |
| Cntnap1 |
G |
A |
11: 101,069,142 (GRCm39) |
V199M |
probably damaging |
Het |
| Cntnap3 |
A |
T |
13: 64,905,225 (GRCm39) |
V852E |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,249,907 (GRCm39) |
S1024T |
probably damaging |
Het |
| Cyp3a25 |
T |
C |
5: 145,930,075 (GRCm39) |
|
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,101,881 (GRCm39) |
V289D |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,811,731 (GRCm39) |
N1439K |
probably benign |
Het |
| Epha6 |
C |
T |
16: 59,639,300 (GRCm39) |
R858Q |
probably damaging |
Het |
| Gbf1 |
T |
A |
19: 46,258,242 (GRCm39) |
W846R |
probably damaging |
Het |
| Gtpbp2 |
T |
A |
17: 46,475,707 (GRCm39) |
V152E |
probably benign |
Het |
| Hmces |
A |
G |
6: 87,894,837 (GRCm39) |
|
probably null |
Het |
| Hsph1 |
A |
G |
5: 149,540,995 (GRCm39) |
S852P |
probably benign |
Het |
| Kat6b |
A |
C |
14: 21,676,846 (GRCm39) |
K394Q |
probably damaging |
Het |
| Kdr |
G |
A |
5: 76,122,500 (GRCm39) |
T475I |
probably benign |
Het |
| Klhl25 |
A |
G |
7: 75,516,368 (GRCm39) |
T425A |
probably benign |
Het |
| Klk1b8 |
T |
A |
7: 43,602,217 (GRCm39) |
C50S |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,187,464 (GRCm39) |
Y343C |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,355,768 (GRCm39) |
S953P |
probably benign |
Het |
| Lpin1 |
A |
G |
12: 16,597,601 (GRCm39) |
V681A |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,743,581 (GRCm39) |
T508A |
probably benign |
Het |
| Moxd1 |
T |
A |
10: 24,158,598 (GRCm39) |
Y417* |
probably null |
Het |
| Mthfd1l |
T |
G |
10: 3,991,812 (GRCm39) |
I588S |
probably damaging |
Het |
| Myo5c |
C |
A |
9: 75,173,442 (GRCm39) |
N543K |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,791,883 (GRCm39) |
|
probably benign |
Het |
| Nme8 |
T |
C |
13: 19,842,996 (GRCm39) |
Y393C |
probably damaging |
Het |
| Nr2e1 |
T |
G |
10: 42,443,975 (GRCm39) |
N249T |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,515,898 (GRCm39) |
V45A |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,279,484 (GRCm39) |
G2945W |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,970,589 (GRCm39) |
F393S |
probably damaging |
Het |
| Ppp3cc |
A |
G |
14: 70,473,938 (GRCm39) |
V353A |
probably damaging |
Het |
| Prss16 |
T |
A |
13: 22,187,205 (GRCm39) |
Q455L |
probably damaging |
Het |
| Ptpn6 |
A |
T |
6: 124,698,171 (GRCm39) |
V524E |
probably damaging |
Het |
| Rap1gap |
A |
G |
4: 137,443,877 (GRCm39) |
Y163C |
probably damaging |
Het |
| Rnf31 |
C |
T |
14: 55,836,239 (GRCm39) |
L598F |
probably damaging |
Het |
| Sardh |
T |
G |
2: 27,115,003 (GRCm39) |
D550A |
probably benign |
Het |
| Serpinc1 |
T |
G |
1: 160,827,562 (GRCm39) |
I387S |
probably damaging |
Het |
| Sh3d19 |
A |
T |
3: 86,028,474 (GRCm39) |
D650V |
probably benign |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,750 (GRCm39) |
T196S |
probably damaging |
Het |
| Slc25a46 |
T |
C |
18: 31,716,621 (GRCm39) |
T294A |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,034,756 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
T |
A |
5: 5,727,612 (GRCm39) |
N241I |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,573,594 (GRCm39) |
Y206C |
probably damaging |
Het |
| Tmem259 |
T |
A |
10: 79,814,297 (GRCm39) |
Q322L |
probably damaging |
Het |
| Tnni2 |
C |
A |
7: 141,997,166 (GRCm39) |
Q52K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,565,372 (GRCm39) |
V28285A |
possibly damaging |
Het |
| Uba7 |
T |
A |
9: 107,853,352 (GRCm39) |
S99R |
probably benign |
Het |
| Ubxn2b |
A |
T |
4: 6,216,071 (GRCm39) |
K331N |
probably damaging |
Het |
| Usp50 |
G |
A |
2: 126,611,864 (GRCm39) |
T232I |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,604,973 (GRCm39) |
M95I |
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,604,978 (GRCm39) |
L97Q |
probably damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,763,843 (GRCm39) |
N240I |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,399,901 (GRCm39) |
R383G |
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 |
|
IGL02224:Flrt2
|
APN |
12 |
95,746,802 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
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