Incidental Mutation 'R1442:Flrt2'
| ID |
161555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flrt2
|
| Ensembl Gene |
ENSMUSG00000047414 |
| Gene Name |
fibronectin leucine rich transmembrane protein 2 |
| Synonyms |
|
| MMRRC Submission |
039497-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1442 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
95659000-95751989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95746979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 439
(V439A)
|
| 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: V439A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062171
Gene: ENSMUSG00000047414
AA Change: V439A
| 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: V439A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105744
Gene: ENSMUSG00000047414
AA Change: V439A
| 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 |
0.5226 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.4%
|
| Validation Efficiency |
100% (71/71) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,839,833 (GRCm39) |
|
probably benign |
Het |
| Adamts7 |
T |
A |
9: 90,070,823 (GRCm39) |
I648N |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,385,526 (GRCm39) |
F2252I |
probably damaging |
Het |
| Akr1c6 |
A |
T |
13: 4,507,159 (GRCm39) |
H314L |
probably damaging |
Het |
| Anxa3 |
T |
A |
5: 96,976,549 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
G |
12: 8,036,165 (GRCm39) |
F298V |
probably benign |
Het |
| Atp8a2 |
A |
C |
14: 60,097,772 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
A |
T |
4: 43,334,313 (GRCm39) |
T360S |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,555 (GRCm39) |
N43K |
probably benign |
Het |
| Bicral |
T |
A |
17: 47,112,650 (GRCm39) |
H850L |
probably benign |
Het |
| C1qtnf1 |
A |
G |
11: 118,339,011 (GRCm39) |
D227G |
probably damaging |
Het |
| C8a |
T |
A |
4: 104,685,275 (GRCm39) |
T323S |
possibly damaging |
Het |
| Cep89 |
T |
C |
7: 35,117,636 (GRCm39) |
|
probably benign |
Het |
| Cercam |
G |
T |
2: 29,770,652 (GRCm39) |
V408L |
probably benign |
Het |
| CN725425 |
G |
A |
15: 91,123,158 (GRCm39) |
V76M |
possibly damaging |
Het |
| Cops7b |
T |
A |
1: 86,532,835 (GRCm39) |
M231K |
probably benign |
Het |
| Cpa2 |
T |
A |
6: 30,544,865 (GRCm39) |
|
probably null |
Het |
| Dab2ip |
A |
T |
2: 35,600,268 (GRCm39) |
I287F |
probably damaging |
Het |
| Defb10 |
A |
T |
8: 22,348,944 (GRCm39) |
M1L |
probably benign |
Het |
| Dscam |
C |
A |
16: 96,409,274 (GRCm39) |
R1883L |
possibly damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,717 (GRCm39) |
I640N |
possibly damaging |
Het |
| Duox2 |
G |
C |
2: 122,112,232 (GRCm39) |
P1318R |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,765,985 (GRCm39) |
D466G |
probably benign |
Het |
| E230025N22Rik |
T |
A |
18: 36,824,462 (GRCm39) |
|
probably null |
Het |
| E2f3 |
A |
G |
13: 30,102,652 (GRCm39) |
L80P |
probably damaging |
Het |
| Eif2b2 |
T |
C |
12: 85,266,360 (GRCm39) |
S9P |
probably benign |
Het |
| Etaa1 |
A |
T |
11: 17,897,201 (GRCm39) |
D305E |
probably benign |
Het |
| Fads6 |
C |
A |
11: 115,188,235 (GRCm39) |
R23L |
probably benign |
Het |
| Galm |
A |
C |
17: 80,452,614 (GRCm39) |
Q184P |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,744,303 (GRCm39) |
|
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,843,935 (GRCm39) |
T246A |
probably damaging |
Het |
| Kif28 |
A |
G |
1: 179,532,697 (GRCm39) |
V639A |
possibly damaging |
Het |
| Klhdc8a |
G |
A |
1: 132,230,385 (GRCm39) |
A167T |
possibly damaging |
Het |
| Lrfn3 |
T |
C |
7: 30,059,469 (GRCm39) |
H252R |
probably benign |
Het |
| Lzts1 |
G |
T |
8: 69,591,638 (GRCm39) |
A170E |
probably damaging |
Het |
| Mphosph9 |
T |
A |
5: 124,403,461 (GRCm39) |
I856F |
possibly damaging |
Het |
| Mroh2a |
C |
T |
1: 88,160,075 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Myh3 |
A |
G |
11: 66,978,103 (GRCm39) |
N392D |
possibly damaging |
Het |
| Naalad2 |
T |
C |
9: 18,262,328 (GRCm39) |
|
probably benign |
Het |
| Npc1 |
T |
A |
18: 12,328,106 (GRCm39) |
M1068L |
probably benign |
Het |
| Nup58 |
T |
A |
14: 60,469,992 (GRCm39) |
|
probably benign |
Het |
| Or10c1 |
T |
C |
17: 37,522,595 (GRCm39) |
T50A |
probably benign |
Het |
| Or4k40 |
A |
T |
2: 111,250,438 (GRCm39) |
I286N |
probably damaging |
Het |
| Or8b1 |
A |
T |
9: 38,399,939 (GRCm39) |
I205F |
probably benign |
Het |
| Or8s16 |
T |
C |
15: 98,211,068 (GRCm39) |
Y121C |
probably damaging |
Het |
| Parp2 |
T |
G |
14: 51,056,732 (GRCm39) |
|
probably null |
Het |
| Ppp4r4 |
T |
C |
12: 103,564,504 (GRCm39) |
V9A |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,000,050 (GRCm39) |
D856V |
probably damaging |
Het |
| Ptpru |
T |
A |
4: 131,535,580 (GRCm39) |
T466S |
probably benign |
Het |
| Rhob |
A |
G |
12: 8,549,325 (GRCm39) |
V103A |
possibly damaging |
Het |
| Sec23ip |
A |
C |
7: 128,378,510 (GRCm39) |
S775R |
probably benign |
Het |
| Slit2 |
T |
G |
5: 48,395,725 (GRCm39) |
D709E |
probably damaging |
Het |
| Smok2b |
C |
G |
17: 13,454,390 (GRCm39) |
I183M |
probably damaging |
Het |
| Smtnl1 |
T |
A |
2: 84,648,780 (GRCm39) |
D158V |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,993,489 (GRCm39) |
I2087T |
probably damaging |
Het |
| Tada1 |
G |
A |
1: 166,214,319 (GRCm39) |
R106H |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,243,778 (GRCm39) |
I2025F |
probably damaging |
Het |
| Themis |
T |
C |
10: 28,658,131 (GRCm39) |
V386A |
probably damaging |
Het |
| Ubr5 |
G |
A |
15: 38,015,168 (GRCm39) |
|
probably benign |
Het |
| Vcl |
T |
A |
14: 21,033,446 (GRCm39) |
I134N |
probably damaging |
Het |
| Vegfa |
G |
A |
17: 46,336,418 (GRCm39) |
T56I |
possibly damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,692,623 (GRCm39) |
K78* |
probably null |
Het |
| Vmn2r82 |
A |
T |
10: 79,215,201 (GRCm39) |
T395S |
probably benign |
Het |
| Wbp2nl |
T |
C |
15: 82,198,407 (GRCm39) |
S315P |
probably benign |
Het |
| Zfp566 |
T |
C |
7: 29,777,344 (GRCm39) |
Y279C |
probably damaging |
Het |
| Zmym2 |
T |
C |
14: 57,180,784 (GRCm39) |
Y899H |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGCCAAGGTCCTGAGCAAGTC -3'
(R):5'- TCCACAGTGCGGTAGTTGAACG -3'
Sequencing Primer
(F):5'- CTGTCAGGGAGTTGAATATGAATC -3'
(R):5'- CGGTAGTTGAACGCATCCAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation