Incidental Mutation 'R1746:Flrt2'
ID |
194003 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flrt2
|
Ensembl Gene |
ENSMUSG00000047414 |
Gene Name |
fibronectin leucine rich transmembrane protein 2 |
Synonyms |
|
MMRRC Submission |
039778-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1746 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
95659000-95751989 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 95747566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 635
(N635Y)
|
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 |
possibly damaging
Transcript: ENSMUST00000057324
AA Change: N635Y
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000062171 Gene: ENSMUSG00000047414 AA Change: N635Y
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 |
possibly damaging
Transcript: ENSMUST00000110117
AA Change: N635Y
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105744 Gene: ENSMUSG00000047414 AA Change: N635Y
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 |
0.1033 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
Validation Efficiency |
100% (62/62) |
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 |
Adamts16 |
T |
A |
13: 70,927,717 (GRCm39) |
|
probably null |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Aknad1 |
A |
G |
3: 108,659,099 (GRCm39) |
T38A |
possibly damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Arhgap21 |
T |
C |
2: 20,865,910 (GRCm39) |
E902G |
probably damaging |
Het |
Atg2b |
A |
G |
12: 105,635,588 (GRCm39) |
S227P |
possibly damaging |
Het |
Atp2c2 |
C |
T |
8: 120,461,182 (GRCm39) |
|
probably benign |
Het |
Atxn10 |
T |
C |
15: 85,260,864 (GRCm39) |
V203A |
probably damaging |
Het |
Chd9 |
A |
C |
8: 91,737,326 (GRCm39) |
E1468D |
probably benign |
Het |
Cntn5 |
T |
A |
9: 9,831,577 (GRCm39) |
D601V |
probably damaging |
Het |
Col4a2 |
G |
A |
8: 11,496,020 (GRCm39) |
G1547D |
probably benign |
Het |
Cul1 |
A |
G |
6: 47,485,179 (GRCm39) |
E270G |
probably damaging |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dmgdh |
C |
A |
13: 93,888,933 (GRCm39) |
T857K |
probably benign |
Het |
Ednra |
T |
G |
8: 78,398,211 (GRCm39) |
T279P |
probably benign |
Het |
Erbin |
A |
G |
13: 103,987,339 (GRCm39) |
I407T |
probably damaging |
Het |
Fggy |
A |
G |
4: 95,814,965 (GRCm39) |
Y440C |
probably damaging |
Het |
Fnbp1l |
A |
G |
3: 122,350,140 (GRCm39) |
I357T |
probably benign |
Het |
Gulp1 |
A |
G |
1: 44,793,513 (GRCm39) |
H58R |
possibly damaging |
Het |
Hid1 |
A |
T |
11: 115,245,464 (GRCm39) |
V446E |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,897,561 (GRCm39) |
S1002P |
possibly damaging |
Het |
Klri1 |
A |
G |
6: 129,675,118 (GRCm39) |
|
probably null |
Het |
Kmt2d |
A |
C |
15: 98,762,259 (GRCm39) |
L409R |
probably damaging |
Het |
Ltn1 |
A |
C |
16: 87,208,669 (GRCm39) |
S810A |
possibly damaging |
Het |
Mysm1 |
G |
A |
4: 94,836,648 (GRCm39) |
Q721* |
probably null |
Het |
Nae1 |
A |
G |
8: 105,254,017 (GRCm39) |
V105A |
possibly damaging |
Het |
Nagpa |
C |
T |
16: 5,021,503 (GRCm39) |
V83M |
probably damaging |
Het |
Nrg2 |
G |
A |
18: 36,154,975 (GRCm39) |
T503M |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,221,789 (GRCm39) |
M150V |
possibly damaging |
Het |
Or5p52 |
C |
A |
7: 107,502,093 (GRCm39) |
H56Q |
probably benign |
Het |
Or8g28 |
A |
G |
9: 39,169,498 (GRCm39) |
S157P |
probably damaging |
Het |
Papola |
T |
A |
12: 105,773,468 (GRCm39) |
D162E |
probably benign |
Het |
Plxnc1 |
T |
C |
10: 94,680,041 (GRCm39) |
|
probably null |
Het |
Ppp1r16b |
T |
A |
2: 158,588,585 (GRCm39) |
|
probably null |
Het |
Ptprq |
T |
A |
10: 107,474,691 (GRCm39) |
E1338V |
probably damaging |
Het |
Puf60 |
G |
A |
15: 75,942,633 (GRCm39) |
H437Y |
probably benign |
Het |
Qsox2 |
C |
T |
2: 26,110,650 (GRCm39) |
V189I |
probably benign |
Het |
Rad51ap2 |
A |
T |
12: 11,507,776 (GRCm39) |
D566V |
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,333,237 (GRCm39) |
|
probably null |
Het |
Rfpl4b |
C |
T |
10: 38,697,049 (GRCm39) |
C184Y |
possibly damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rundc3a |
GAGCC |
GAGCCAGCC |
11: 102,291,739 (GRCm39) |
|
probably null |
Het |
Scara5 |
A |
C |
14: 65,968,539 (GRCm39) |
M271L |
probably benign |
Het |
Sel1l2 |
A |
G |
2: 140,127,157 (GRCm39) |
L118P |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,439,416 (GRCm39) |
|
probably benign |
Het |
Siglech |
T |
A |
7: 55,418,252 (GRCm39) |
H73Q |
probably benign |
Het |
Sim1 |
A |
G |
10: 50,860,205 (GRCm39) |
D689G |
probably benign |
Het |
Skp2 |
T |
C |
15: 9,139,530 (GRCm39) |
E55G |
possibly damaging |
Het |
Slc1a1 |
T |
A |
19: 28,871,869 (GRCm39) |
V114E |
probably benign |
Het |
Slc26a6 |
G |
A |
9: 108,738,916 (GRCm39) |
G614D |
probably benign |
Het |
Sptbn2 |
C |
T |
19: 4,795,992 (GRCm39) |
Q1724* |
probably null |
Het |
Tet3 |
T |
C |
6: 83,345,050 (GRCm39) |
T1796A |
probably damaging |
Het |
Tmem117 |
A |
C |
15: 94,829,714 (GRCm39) |
D183A |
possibly damaging |
Het |
Trmt44 |
A |
G |
5: 35,721,403 (GRCm39) |
S587P |
probably benign |
Het |
Ttn |
G |
T |
2: 76,619,166 (GRCm39) |
|
probably benign |
Het |
Tubgcp5 |
G |
A |
7: 55,458,285 (GRCm39) |
V399M |
probably benign |
Het |
Txndc2 |
T |
A |
17: 65,945,130 (GRCm39) |
D349V |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,250,915 (GRCm39) |
N1194I |
probably benign |
Het |
Vmn1r178 |
A |
T |
7: 23,593,329 (GRCm39) |
I53L |
probably benign |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
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 |
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'- GCCGACGGAAAGACGACTATTGTG -3'
(R):5'- TGACAGCCTCAACAGCGAAGTG -3'
Sequencing Primer
(F):5'- ACGACTATTGTGAAGCGGG -3'
(R):5'- TGCACAAATGCATCTGGGTAAC -3'
|
Posted On |
2014-05-23 |