Incidental Mutation 'R2310:Flrt2'
ID |
244752 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flrt2
|
Ensembl Gene |
ENSMUSG00000047414 |
Gene Name |
fibronectin leucine rich transmembrane protein 2 |
Synonyms |
|
MMRRC Submission |
040309-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2310 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
95659000-95751989 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95746864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 401
(T401A)
|
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: T401A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000062171 Gene: ENSMUSG00000047414 AA Change: T401A
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: T401A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000105744 Gene: ENSMUSG00000047414 AA Change: T401A
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 |
|
Meta Mutation Damage Score |
0.0668 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
Validation Efficiency |
100% (39/39) |
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 |
Arhgef10l |
A |
C |
4: 140,320,429 (GRCm39) |
C136W |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,624,988 (GRCm39) |
H1625Q |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
Cyp2c65 |
A |
G |
19: 39,081,826 (GRCm39) |
T451A |
probably benign |
Het |
Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
Efhd1 |
T |
C |
1: 87,192,350 (GRCm39) |
L60P |
probably damaging |
Het |
Frmd4a |
GAA |
G |
2: 4,577,210 (GRCm39) |
|
probably null |
Het |
Gas2l2 |
A |
G |
11: 83,318,265 (GRCm39) |
V148A |
possibly damaging |
Het |
Golga5 |
A |
G |
12: 102,458,420 (GRCm39) |
E621G |
probably damaging |
Het |
Gsap |
A |
T |
5: 21,401,088 (GRCm39) |
R74* |
probably null |
Het |
Intu |
C |
T |
3: 40,608,243 (GRCm39) |
A85V |
probably benign |
Het |
Kansl3 |
T |
A |
1: 36,382,445 (GRCm39) |
I860F |
probably damaging |
Het |
Kif23 |
A |
G |
9: 61,831,426 (GRCm39) |
S715P |
probably damaging |
Het |
Map3k8 |
A |
T |
18: 4,349,001 (GRCm39) |
C106S |
probably benign |
Het |
Mcc |
T |
C |
18: 44,564,433 (GRCm39) |
E934G |
probably damaging |
Het |
Mrpl19 |
A |
T |
6: 81,941,054 (GRCm39) |
|
probably null |
Het |
Msl3l2 |
C |
A |
10: 55,991,421 (GRCm39) |
R49S |
probably benign |
Het |
Muc6 |
T |
A |
7: 141,217,444 (GRCm39) |
I2410F |
possibly damaging |
Het |
Or2t6 |
A |
G |
14: 14,175,836 (GRCm38) |
V82A |
probably benign |
Het |
Or4a73 |
A |
G |
2: 89,420,794 (GRCm39) |
S222P |
probably damaging |
Het |
Pip5k1c |
T |
G |
10: 81,142,142 (GRCm39) |
S117R |
probably damaging |
Het |
Ppfia2 |
T |
C |
10: 106,690,841 (GRCm39) |
S561P |
probably damaging |
Het |
Pramel13 |
A |
T |
4: 144,119,475 (GRCm39) |
|
probably null |
Het |
Rassf5 |
A |
T |
1: 131,172,477 (GRCm39) |
W131R |
probably damaging |
Het |
Shq1 |
C |
T |
6: 100,607,963 (GRCm39) |
W316* |
probably null |
Het |
Slc45a4 |
A |
G |
15: 73,461,409 (GRCm39) |
Y87H |
probably damaging |
Het |
Sptbn2 |
A |
G |
19: 4,768,963 (GRCm39) |
D32G |
probably benign |
Het |
Tjp1 |
C |
T |
7: 64,979,490 (GRCm39) |
R345Q |
possibly damaging |
Het |
Tnrc18 |
C |
G |
5: 142,774,308 (GRCm39) |
V174L |
probably damaging |
Het |
Trmt6 |
G |
T |
2: 132,650,832 (GRCm39) |
P259T |
probably damaging |
Het |
Ubap1 |
T |
A |
4: 41,379,341 (GRCm39) |
V185E |
possibly damaging |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,204,053 (GRCm39) |
T1979A |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,356,591 (GRCm39) |
D3784G |
probably benign |
Het |
Zfp119a |
A |
T |
17: 56,172,440 (GRCm39) |
Y468N |
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 |
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 |
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'- TTCATGTGCCAAGGTCCTGAG -3'
(R):5'- CCACTGACAATTCGTTCCTGAAC -3'
Sequencing Primer
(F):5'- TGCCAAGGTCCTGAGCAAGTC -3'
(R):5'- GAGACTGTGGCCCATTTTCAC -3'
|
Posted On |
2014-10-30 |