Incidental Mutation 'R3418:Flrt2'
ID |
266924 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flrt2
|
Ensembl Gene |
ENSMUSG00000047414 |
Gene Name |
fibronectin leucine rich transmembrane protein 2 |
Synonyms |
|
MMRRC Submission |
040636-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3418 (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 95747378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 572
(Y572C)
|
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: Y572C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000062171 Gene: ENSMUSG00000047414 AA Change: Y572C
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: Y572C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000105744 Gene: ENSMUSG00000047414 AA Change: Y572C
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 |
0.1182 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
98% (61/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
A |
G |
6: 133,271,082 (GRCm39) |
Q42R |
probably benign |
Het |
Acaa1a |
A |
G |
9: 119,178,556 (GRCm39) |
|
probably null |
Het |
Agbl5 |
T |
C |
5: 31,062,067 (GRCm39) |
S756P |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,122,060 (GRCm39) |
L395P |
probably damaging |
Het |
Cdc16 |
C |
T |
8: 13,819,489 (GRCm39) |
Q362* |
probably null |
Het |
Cdh5 |
C |
T |
8: 104,856,002 (GRCm39) |
R312C |
probably damaging |
Het |
Cep170b |
C |
T |
12: 112,704,902 (GRCm39) |
Q887* |
probably null |
Het |
Chd9 |
T |
C |
8: 91,763,219 (GRCm39) |
I2348T |
probably damaging |
Het |
Clec9a |
A |
G |
6: 129,398,001 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,731,813 (GRCm39) |
D873G |
probably benign |
Het |
D130040H23Rik |
T |
C |
8: 69,755,579 (GRCm39) |
I328T |
probably benign |
Het |
Dido1 |
G |
T |
2: 180,302,728 (GRCm39) |
D1725E |
possibly damaging |
Het |
Dnajb14 |
A |
G |
3: 137,598,631 (GRCm39) |
D123G |
probably null |
Het |
Dock2 |
A |
T |
11: 34,580,587 (GRCm39) |
M661K |
probably damaging |
Het |
Esam |
C |
T |
9: 37,448,426 (GRCm39) |
|
probably null |
Het |
Fam20c |
A |
T |
5: 138,743,623 (GRCm39) |
N220Y |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,169,824 (GRCm39) |
H2978Q |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,162,846 (GRCm39) |
T2147A |
possibly damaging |
Het |
Fdft1 |
T |
C |
14: 63,394,070 (GRCm39) |
T214A |
probably damaging |
Het |
Fhl5 |
T |
C |
4: 25,211,252 (GRCm39) |
S147G |
probably benign |
Het |
Gcat |
A |
T |
15: 78,926,297 (GRCm39) |
T56S |
possibly damaging |
Het |
Gemin5 |
A |
T |
11: 58,047,454 (GRCm39) |
|
probably null |
Het |
Gm4736 |
A |
T |
6: 132,092,640 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 135,820,108 (GRCm39) |
N368S |
probably benign |
Het |
Gsto1 |
T |
C |
19: 47,846,344 (GRCm39) |
F64L |
probably benign |
Het |
Gucy1a1 |
A |
G |
3: 82,013,440 (GRCm39) |
S401P |
probably damaging |
Het |
Htr1f |
G |
A |
16: 64,746,260 (GRCm39) |
P344L |
probably damaging |
Het |
Ighv7-3 |
T |
A |
12: 114,116,919 (GRCm39) |
Y81F |
probably damaging |
Het |
Jakmip3 |
C |
A |
7: 138,619,474 (GRCm39) |
|
probably benign |
Het |
Kcnj13 |
T |
C |
1: 87,314,641 (GRCm39) |
T194A |
probably benign |
Het |
Khdrbs3 |
T |
C |
15: 68,921,224 (GRCm39) |
|
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lyn |
A |
T |
4: 3,746,833 (GRCm39) |
I204F |
probably damaging |
Het |
Mbd6 |
C |
G |
10: 127,122,372 (GRCm39) |
R152P |
probably null |
Het |
Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
Myom2 |
T |
G |
8: 15,135,294 (GRCm39) |
I499S |
probably benign |
Het |
Nos2 |
T |
A |
11: 78,850,521 (GRCm39) |
F1126L |
possibly damaging |
Het |
Or3a4 |
G |
A |
11: 73,944,814 (GRCm39) |
T257I |
probably damaging |
Het |
P2ry1 |
T |
C |
3: 60,911,133 (GRCm39) |
F91L |
probably damaging |
Het |
Pcdh15 |
C |
A |
10: 74,420,054 (GRCm39) |
D1166E |
probably benign |
Het |
Pou6f1 |
C |
A |
15: 100,478,805 (GRCm39) |
V368L |
probably benign |
Het |
Ptcd3 |
A |
T |
6: 71,860,470 (GRCm39) |
I579K |
possibly damaging |
Het |
Rbm45 |
A |
G |
2: 76,209,362 (GRCm39) |
E392G |
probably damaging |
Het |
Rnf168 |
A |
G |
16: 32,118,010 (GRCm39) |
N524D |
probably benign |
Het |
Rnf222 |
G |
T |
11: 68,783,982 (GRCm39) |
R183L |
probably damaging |
Het |
Robo1 |
C |
T |
16: 72,832,805 (GRCm39) |
T1526I |
probably benign |
Het |
Sel1l |
A |
G |
12: 91,776,776 (GRCm39) |
W689R |
probably damaging |
Het |
Serpinb13 |
T |
C |
1: 106,926,657 (GRCm39) |
S218P |
probably damaging |
Het |
Serpini1 |
A |
G |
3: 75,547,589 (GRCm39) |
Y367C |
probably damaging |
Het |
Slc13a2 |
A |
G |
11: 78,291,666 (GRCm39) |
F329S |
probably benign |
Het |
Smc2 |
T |
C |
4: 52,476,850 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 178,043,446 (GRCm39) |
|
probably benign |
Het |
Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
Tdrd1 |
T |
A |
19: 56,819,663 (GRCm39) |
N54K |
possibly damaging |
Het |
Tgfbr2 |
T |
C |
9: 115,958,901 (GRCm39) |
Y146C |
probably damaging |
Het |
Tnfrsf11a |
A |
G |
1: 105,737,130 (GRCm39) |
D79G |
possibly damaging |
Het |
Trpa1 |
T |
C |
1: 14,944,605 (GRCm39) |
I1046M |
probably benign |
Het |
Ubn1 |
A |
G |
16: 4,892,243 (GRCm39) |
|
probably benign |
Het |
Ubp1 |
T |
C |
9: 113,780,754 (GRCm39) |
|
probably null |
Het |
Vmn2r2 |
A |
T |
3: 64,024,320 (GRCm39) |
F754I |
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 |
R2310:Flrt2
|
UTSW |
12 |
95,746,864 (GRCm39) |
missense |
probably benign |
0.01 |
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'- ATGCGTTCAACTACCGCAC -3'
(R):5'- GGGGTATAAATGGGCTGCAGTC -3'
Sequencing Primer
(F):5'- AGATACCATCTGTTCGGAGGCTAC -3'
(R):5'- AATGGGCTGCAGTCTGAAATCTC -3'
|
Posted On |
2015-02-18 |