Incidental Mutation 'R3419:Flrt2'
| ID |
266981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flrt2
|
| Ensembl Gene |
ENSMUSG00000047414 |
| Gene Name |
fibronectin leucine rich transmembrane protein 2 |
| Synonyms |
|
| MMRRC Submission |
040637-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 97.3%
- 20x: 95.0%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
A |
G |
6: 133,271,082 (GRCm39) |
Q42R |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,512,068 (GRCm39) |
L518P |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,122,060 (GRCm39) |
L395P |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,993,684 (GRCm39) |
K181E |
probably benign |
Het |
| Bend3 |
T |
C |
10: 43,385,978 (GRCm39) |
S124P |
probably damaging |
Het |
| Cdh5 |
C |
T |
8: 104,856,002 (GRCm39) |
R312C |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,731,813 (GRCm39) |
D873G |
probably benign |
Het |
| Dmbx1 |
G |
C |
4: 115,777,873 (GRCm39) |
R64G |
probably benign |
Het |
| Dpy19l2 |
T |
C |
9: 24,492,501 (GRCm39) |
E699G |
probably damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,188,597 (GRCm39) |
V666I |
probably benign |
Het |
| Eef2k |
T |
A |
7: 120,485,093 (GRCm39) |
M320K |
probably damaging |
Het |
| Exoc5 |
A |
T |
14: 49,260,735 (GRCm39) |
N377K |
probably damaging |
Het |
| Fam20c |
A |
T |
5: 138,743,623 (GRCm39) |
N220Y |
probably damaging |
Het |
| Fchsd2 |
T |
A |
7: 100,927,867 (GRCm39) |
|
probably null |
Het |
| Gm17093 |
A |
G |
14: 44,759,047 (GRCm39) |
I190V |
unknown |
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 |
| Hoxd10 |
A |
G |
2: 74,522,921 (GRCm39) |
K200E |
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,641 (GRCm39) |
T194A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lacc1 |
T |
G |
14: 77,272,321 (GRCm39) |
E158D |
probably benign |
Het |
| Lyn |
A |
T |
4: 3,746,833 (GRCm39) |
I204F |
probably damaging |
Het |
| Mapk6 |
T |
C |
9: 75,305,039 (GRCm39) |
E126G |
probably damaging |
Het |
| Mbd6 |
C |
G |
10: 127,122,372 (GRCm39) |
R152P |
probably null |
Het |
| Or2h1b |
A |
T |
17: 37,462,242 (GRCm39) |
V53E |
probably damaging |
Het |
| Or52e15 |
A |
G |
7: 104,645,727 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8g17 |
C |
T |
9: 38,930,372 (GRCm39) |
C155Y |
probably benign |
Het |
| P2ry1 |
T |
C |
3: 60,911,133 (GRCm39) |
F91L |
probably damaging |
Het |
| Paqr3 |
A |
G |
5: 97,247,559 (GRCm39) |
L183P |
probably damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,420,054 (GRCm39) |
D1166E |
probably benign |
Het |
| Pik3r1 |
T |
C |
13: 101,828,723 (GRCm39) |
D25G |
probably benign |
Het |
| Poc5 |
A |
T |
13: 96,540,925 (GRCm39) |
T365S |
possibly damaging |
Het |
| Polr3a |
A |
G |
14: 24,517,103 (GRCm39) |
L716P |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,413 (GRCm39) |
D500E |
probably benign |
Het |
| Ptcd3 |
A |
T |
6: 71,860,470 (GRCm39) |
I579K |
possibly damaging |
Het |
| Rnf168 |
A |
G |
16: 32,118,010 (GRCm39) |
N524D |
probably benign |
Het |
| Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
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 |
| Snrnp48 |
G |
A |
13: 38,405,335 (GRCm39) |
D248N |
possibly damaging |
Het |
| St6galnac4 |
A |
G |
2: 32,485,743 (GRCm39) |
T217A |
probably damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,819,663 (GRCm39) |
N54K |
possibly damaging |
Het |
| Tmem30c |
A |
G |
16: 57,098,031 (GRCm39) |
V130A |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,944,605 (GRCm39) |
I1046M |
probably benign |
Het |
| Tulp2 |
T |
A |
7: 45,168,176 (GRCm39) |
M196K |
possibly damaging |
Het |
| Unc5b |
G |
A |
10: 60,614,593 (GRCm39) |
R235W |
probably damaging |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,075 (GRCm39) |
M184K |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,320 (GRCm39) |
F754I |
probably benign |
Het |
| Vmn2r9 |
A |
C |
5: 108,994,299 (GRCm39) |
M450R |
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 |
|
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 |
|
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'- GATGCGTTCAACTACCGCAC -3'
(R):5'- GGGGTATAAATGGGCTGCAGTC -3'
Sequencing Primer
(F):5'- AGATACCATCTGTTCGGAGGCTAC -3'
(R):5'- AATGGGCTGCAGTCTGAAATCTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation