Incidental Mutation 'R1462:Flrt2'
| ID |
158975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flrt2
|
| Ensembl Gene |
ENSMUSG00000047414 |
| Gene Name |
fibronectin leucine rich transmembrane protein 2 |
| Synonyms |
|
| MMRRC Submission |
039516-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1462 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
95659000-95751989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95746112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 150
(V150A)
|
| 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: V150A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062171
Gene: ENSMUSG00000047414
AA Change: V150A
| 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: V150A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105744
Gene: ENSMUSG00000047414
AA Change: V150A
| 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 |
0.5310 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 92.6%
- 20x: 79.9%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
A |
7: 40,642,370 (GRCm39) |
S104* |
probably null |
Het |
| Abca9 |
T |
C |
11: 110,051,342 (GRCm39) |
D118G |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,984,253 (GRCm39) |
F137L |
probably benign |
Het |
| Adamts3 |
T |
C |
5: 90,009,208 (GRCm39) |
I152V |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 56,015,765 (GRCm39) |
E441D |
possibly damaging |
Het |
| Adgra1 |
T |
A |
7: 139,455,745 (GRCm39) |
Y458N |
probably damaging |
Het |
| Bhlhe22 |
C |
G |
3: 18,109,946 (GRCm39) |
S332C |
probably damaging |
Het |
| Card19 |
T |
A |
13: 49,358,760 (GRCm39) |
Q71L |
probably benign |
Het |
| Ccdc12 |
T |
C |
9: 110,485,662 (GRCm39) |
L11P |
probably damaging |
Het |
| Cdadc1 |
A |
G |
14: 59,813,307 (GRCm39) |
Y367H |
probably damaging |
Het |
| Cdc5l |
G |
T |
17: 45,719,288 (GRCm39) |
Q542K |
possibly damaging |
Het |
| Cep170 |
T |
C |
1: 176,584,211 (GRCm39) |
K723E |
possibly damaging |
Het |
| Cep70 |
A |
G |
9: 99,145,773 (GRCm39) |
I147V |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 47,950,869 (GRCm39) |
H410L |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,142,735 (GRCm39) |
K418R |
probably damaging |
Het |
| Cic |
T |
G |
7: 24,971,032 (GRCm39) |
D254E |
probably damaging |
Het |
| Ckap4 |
T |
C |
10: 84,363,431 (GRCm39) |
E544G |
probably damaging |
Het |
| Crnkl1 |
C |
T |
2: 145,763,739 (GRCm39) |
A500T |
probably damaging |
Het |
| Cyp2c38 |
T |
C |
19: 39,380,632 (GRCm39) |
N418D |
probably damaging |
Het |
| Daam1 |
A |
T |
12: 71,990,916 (GRCm39) |
I177L |
unknown |
Het |
| Ercc5 |
A |
G |
1: 44,219,784 (GRCm39) |
T1019A |
probably damaging |
Het |
| F13b |
T |
A |
1: 139,435,374 (GRCm39) |
V173E |
probably damaging |
Het |
| Fam20a |
A |
C |
11: 109,568,143 (GRCm39) |
F316V |
probably damaging |
Het |
| Fnta |
A |
C |
8: 26,489,599 (GRCm39) |
|
probably null |
Het |
| Ghsr |
A |
G |
3: 27,426,025 (GRCm39) |
D27G |
probably benign |
Het |
| Gtpbp1 |
A |
G |
15: 79,592,086 (GRCm39) |
N96D |
probably damaging |
Het |
| H1f7 |
A |
T |
15: 98,154,454 (GRCm39) |
W232R |
unknown |
Het |
| Ibtk |
A |
T |
9: 85,606,198 (GRCm39) |
I443N |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,552,513 (GRCm39) |
H968R |
probably damaging |
Het |
| Ifit2 |
A |
G |
19: 34,550,586 (GRCm39) |
D42G |
probably null |
Het |
| Il17rc |
A |
T |
6: 113,455,950 (GRCm39) |
D265V |
probably damaging |
Het |
| Itfg2 |
T |
C |
6: 128,401,691 (GRCm39) |
D29G |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,952,649 (GRCm39) |
H864R |
probably damaging |
Het |
| Lrrc1 |
A |
G |
9: 77,349,547 (GRCm39) |
F295L |
probably benign |
Het |
| Mrps28 |
T |
A |
3: 8,965,184 (GRCm39) |
H85L |
possibly damaging |
Het |
| Mtpn |
T |
A |
6: 35,499,693 (GRCm39) |
K37M |
possibly damaging |
Het |
| Mug1 |
C |
T |
6: 121,859,588 (GRCm39) |
H1196Y |
probably benign |
Het |
| Mup4 |
T |
C |
4: 59,960,084 (GRCm39) |
H60R |
possibly damaging |
Het |
| Mybl2 |
T |
C |
2: 162,914,628 (GRCm39) |
S249P |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,436,748 (GRCm39) |
Y592H |
possibly damaging |
Het |
| Nrp1 |
A |
G |
8: 129,229,279 (GRCm39) |
N919S |
probably benign |
Het |
| Nudt9 |
C |
T |
5: 104,212,904 (GRCm39) |
Q326* |
probably null |
Het |
| Or5w13 |
A |
T |
2: 87,523,720 (GRCm39) |
C169S |
probably damaging |
Het |
| Or6c76b |
A |
G |
10: 129,693,100 (GRCm39) |
T238A |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,407 (GRCm39) |
M162K |
probably benign |
Het |
| Or9k7 |
T |
A |
10: 130,046,592 (GRCm39) |
I136F |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,161,815 (GRCm39) |
E142G |
probably damaging |
Het |
| Pde3a |
C |
A |
6: 141,405,560 (GRCm39) |
P471T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,512,727 (GRCm39) |
V652E |
possibly damaging |
Het |
| Prkcb |
T |
A |
7: 122,181,672 (GRCm39) |
M420K |
probably damaging |
Het |
| Prr14 |
T |
A |
7: 127,073,160 (GRCm39) |
|
probably null |
Het |
| Rchy1 |
T |
A |
5: 92,105,741 (GRCm39) |
Q69L |
probably damaging |
Het |
| Sec23ip |
T |
G |
7: 128,367,862 (GRCm39) |
S625A |
probably benign |
Het |
| Smpdl3b |
A |
G |
4: 132,473,925 (GRCm39) |
S47P |
probably damaging |
Het |
| Speer4a3 |
T |
A |
5: 26,156,623 (GRCm39) |
I119F |
possibly damaging |
Het |
| Stil |
G |
A |
4: 114,881,161 (GRCm39) |
M568I |
probably benign |
Het |
| Syt3 |
T |
A |
7: 44,045,434 (GRCm39) |
V558E |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,231,164 (GRCm39) |
V2533A |
unknown |
Het |
| Tenm4 |
A |
G |
7: 96,353,360 (GRCm39) |
Y384C |
probably damaging |
Het |
| Tfam |
T |
C |
10: 71,071,380 (GRCm39) |
E94G |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,714,304 (GRCm39) |
T14A |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,409,566 (GRCm39) |
Y15* |
probably null |
Het |
| Uhrf1 |
C |
T |
17: 56,625,035 (GRCm39) |
A526V |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,805,046 (GRCm39) |
D22G |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,817,660 (GRCm39) |
I412M |
possibly damaging |
Het |
| Wdr17 |
A |
T |
8: 55,123,363 (GRCm39) |
I479K |
probably damaging |
Het |
| Wt1 |
T |
C |
2: 104,997,176 (GRCm39) |
V371A |
probably damaging |
Het |
| Zfp536 |
G |
T |
7: 37,178,735 (GRCm39) |
S226Y |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,803,108 (GRCm39) |
V560A |
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 |
|
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'- AGAGCTGCACAATGTCCAGTCAG -3'
(R):5'- CAGAAGATTCCCATCCACGATCAGG -3'
Sequencing Primer
(F):5'- TGAGTTCCCCATGAACCTTC -3'
(R):5'- ATCCACGATCAGGCGCTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation