Incidental Mutation 'R8441:Flrt3'
ID |
654198 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flrt3
|
Ensembl Gene |
ENSMUSG00000051379 |
Gene Name |
fibronectin leucine rich transmembrane protein 3 |
Synonyms |
5530600M07Rik, C430047I10Rik |
MMRRC Submission |
067885-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8441 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
140500118-140513396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 140502546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 361
(V361L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053399
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056760]
[ENSMUST00000078027]
[ENSMUST00000110057]
[ENSMUST00000110063]
[ENSMUST00000110064]
[ENSMUST00000110067]
|
AlphaFold |
Q8BGT1 |
PDB Structure |
FLRT3 LRR domain [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000056760
AA Change: V361L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000053399 Gene: ENSMUSG00000051379 AA Change: V361L
Domain | Start | End | E-Value | Type |
LRRNT
|
30 |
62 |
3.12e-6 |
SMART |
LRR
|
82 |
105 |
1.03e2 |
SMART |
LRR
|
127 |
152 |
8.26e1 |
SMART |
LRR
|
156 |
176 |
4.58e1 |
SMART |
LRR
|
198 |
223 |
4.09e1 |
SMART |
LRR
|
224 |
247 |
1.33e1 |
SMART |
LRR
|
248 |
269 |
4.2e0 |
SMART |
LRR_TYP
|
270 |
293 |
7.9e-4 |
SMART |
LRRCT
|
305 |
356 |
1.49e-9 |
SMART |
FN3
|
404 |
486 |
4.56e0 |
SMART |
transmembrane domain
|
530 |
552 |
N/A |
INTRINSIC |
low complexity region
|
625 |
639 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000078027
|
SMART Domains |
Protein: ENSMUSP00000077174 Gene: ENSMUSG00000068205
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
A1pp
|
71 |
201 |
5.72e-45 |
SMART |
low complexity region
|
266 |
293 |
N/A |
INTRINSIC |
low complexity region
|
307 |
319 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110057
AA Change: V361L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000105684 Gene: ENSMUSG00000051379 AA Change: V361L
Domain | Start | End | E-Value | Type |
LRRNT
|
30 |
62 |
3.12e-6 |
SMART |
LRR
|
82 |
105 |
1.03e2 |
SMART |
LRR
|
127 |
152 |
8.26e1 |
SMART |
LRR
|
156 |
176 |
4.58e1 |
SMART |
LRR
|
198 |
223 |
4.09e1 |
SMART |
LRR
|
224 |
247 |
1.33e1 |
SMART |
LRR
|
248 |
269 |
4.2e0 |
SMART |
LRR_TYP
|
270 |
293 |
7.9e-4 |
SMART |
LRRCT
|
305 |
356 |
1.49e-9 |
SMART |
FN3
|
404 |
486 |
4.56e0 |
SMART |
transmembrane domain
|
530 |
552 |
N/A |
INTRINSIC |
low complexity region
|
625 |
639 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110063
|
SMART Domains |
Protein: ENSMUSP00000105690 Gene: ENSMUSG00000068205
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
PDB:4IQY|B
|
21 |
107 |
1e-36 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110064
|
SMART Domains |
Protein: ENSMUSP00000105691 Gene: ENSMUSG00000068205
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
A1pp
|
71 |
201 |
5.72e-45 |
SMART |
low complexity region
|
266 |
293 |
N/A |
INTRINSIC |
low complexity region
|
307 |
319 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110067
|
SMART Domains |
Protein: ENSMUSP00000105694 Gene: ENSMUSG00000068205
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
A1pp
|
71 |
201 |
5.72e-45 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (43/43) |
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 protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010] PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, abnormal embryonic tissue development, disrupted head formation, cardia bifida and abnormal ventral wall closure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
G |
2: 69,087,574 (GRCm39) |
Y1064H |
possibly damaging |
Het |
Ahrr |
T |
C |
13: 74,362,182 (GRCm39) |
D567G |
probably benign |
Het |
Aldh1b1 |
T |
A |
4: 45,802,465 (GRCm39) |
M1K |
probably null |
Het |
Ankrd12 |
A |
T |
17: 66,349,546 (GRCm39) |
S96T |
probably benign |
Het |
Arhgef10 |
A |
T |
8: 15,041,237 (GRCm39) |
|
probably benign |
Het |
Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
Cmpk2 |
G |
A |
12: 26,527,204 (GRCm39) |
A398T |
probably benign |
Het |
Cpn2 |
A |
G |
16: 30,078,849 (GRCm39) |
L284P |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,432,658 (GRCm39) |
D1221G |
probably damaging |
Het |
Dnah7c |
A |
G |
1: 46,572,398 (GRCm39) |
K957R |
probably damaging |
Het |
Eif1ad2 |
T |
G |
12: 87,786,384 (GRCm39) |
D98E |
probably benign |
Het |
Flnb |
T |
A |
14: 7,896,488 (GRCm38) |
V893E |
probably benign |
Het |
Fnta |
G |
A |
8: 26,501,209 (GRCm39) |
R104* |
probably null |
Het |
Ggt1 |
C |
T |
10: 75,415,185 (GRCm39) |
T233I |
possibly damaging |
Het |
Gpr37l1 |
A |
T |
1: 135,094,875 (GRCm39) |
V123E |
probably damaging |
Het |
Grpel1 |
A |
G |
5: 36,622,556 (GRCm39) |
R7G |
probably benign |
Het |
H2-M10.5 |
A |
T |
17: 37,084,199 (GRCm39) |
I54L |
probably benign |
Het |
Mapk8ip3 |
A |
T |
17: 25,139,474 (GRCm39) |
|
probably benign |
Het |
Mcm3 |
T |
C |
1: 20,884,690 (GRCm39) |
D271G |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,422,265 (GRCm39) |
V1256A |
possibly damaging |
Het |
Nipbl |
A |
G |
15: 8,322,599 (GRCm39) |
V2604A |
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,073,204 (GRCm39) |
D213V |
probably damaging |
Het |
Npbwr1 |
G |
A |
1: 5,987,397 (GRCm39) |
A39V |
possibly damaging |
Het |
Nr6a1 |
T |
C |
2: 38,632,888 (GRCm39) |
D191G |
probably benign |
Het |
Olfml1 |
T |
G |
7: 107,166,977 (GRCm39) |
V2G |
probably benign |
Het |
Or4k38 |
A |
T |
2: 111,166,131 (GRCm39) |
Y97* |
probably null |
Het |
Or5b105 |
T |
A |
19: 13,080,020 (GRCm39) |
Y216F |
probably damaging |
Het |
Otof |
T |
C |
5: 30,538,200 (GRCm39) |
K1175E |
probably damaging |
Het |
Pira13 |
C |
A |
7: 3,826,301 (GRCm39) |
E231* |
probably null |
Het |
Plekhg2 |
C |
T |
7: 28,060,291 (GRCm39) |
V989I |
probably benign |
Het |
Prkcq |
A |
G |
2: 11,253,037 (GRCm39) |
D229G |
probably benign |
Het |
Ptprf |
A |
T |
4: 118,075,255 (GRCm39) |
|
probably benign |
Het |
Rest |
G |
T |
5: 77,429,766 (GRCm39) |
Q728H |
possibly damaging |
Het |
Scube1 |
A |
T |
15: 83,494,423 (GRCm39) |
I868N |
probably damaging |
Het |
Spcs3 |
A |
G |
8: 54,981,375 (GRCm39) |
|
probably null |
Het |
Speg |
A |
G |
1: 75,387,976 (GRCm39) |
S1445G |
possibly damaging |
Het |
Spmap2 |
C |
A |
10: 79,412,510 (GRCm39) |
R327L |
probably damaging |
Het |
Tmem145 |
T |
C |
7: 25,008,200 (GRCm39) |
F261S |
possibly damaging |
Het |
Trav9d-4 |
A |
G |
14: 53,221,284 (GRCm39) |
S93G |
probably benign |
Het |
Trbv5 |
T |
A |
6: 41,039,517 (GRCm39) |
C41S |
probably damaging |
Het |
Trpm5 |
A |
G |
7: 142,626,171 (GRCm39) |
S1131P |
possibly damaging |
Het |
Ttc28 |
C |
T |
5: 111,325,507 (GRCm39) |
R313* |
probably null |
Het |
Ubap2l |
T |
C |
3: 89,920,007 (GRCm39) |
T853A |
unknown |
Het |
Xirp2 |
T |
C |
2: 67,343,159 (GRCm39) |
V1800A |
possibly damaging |
Het |
Zfhx2 |
A |
G |
14: 55,303,985 (GRCm39) |
L1333P |
possibly damaging |
Het |
|
Other mutations in Flrt3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02141:Flrt3
|
APN |
2 |
140,502,608 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02292:Flrt3
|
APN |
2 |
140,502,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R0030:Flrt3
|
UTSW |
2 |
140,502,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R1487:Flrt3
|
UTSW |
2 |
140,502,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Flrt3
|
UTSW |
2 |
140,503,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R2115:Flrt3
|
UTSW |
2 |
140,503,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R2326:Flrt3
|
UTSW |
2 |
140,503,311 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3113:Flrt3
|
UTSW |
2 |
140,503,454 (GRCm39) |
missense |
probably benign |
0.03 |
R3605:Flrt3
|
UTSW |
2 |
140,503,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R4366:Flrt3
|
UTSW |
2 |
140,502,327 (GRCm39) |
missense |
probably damaging |
0.99 |
R4702:Flrt3
|
UTSW |
2 |
140,503,575 (GRCm39) |
missense |
probably benign |
|
R4799:Flrt3
|
UTSW |
2 |
140,502,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R5085:Flrt3
|
UTSW |
2 |
140,502,177 (GRCm39) |
missense |
probably damaging |
0.99 |
R5100:Flrt3
|
UTSW |
2 |
140,513,304 (GRCm39) |
start gained |
probably null |
|
R5109:Flrt3
|
UTSW |
2 |
140,502,663 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5635:Flrt3
|
UTSW |
2 |
140,502,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R5982:Flrt3
|
UTSW |
2 |
140,502,836 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6117:Flrt3
|
UTSW |
2 |
140,502,365 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6213:Flrt3
|
UTSW |
2 |
140,503,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R6246:Flrt3
|
UTSW |
2 |
140,501,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R6746:Flrt3
|
UTSW |
2 |
140,501,945 (GRCm39) |
missense |
probably damaging |
0.99 |
R6854:Flrt3
|
UTSW |
2 |
140,502,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R7000:Flrt3
|
UTSW |
2 |
140,502,804 (GRCm39) |
nonsense |
probably null |
|
R7221:Flrt3
|
UTSW |
2 |
140,503,090 (GRCm39) |
missense |
probably damaging |
0.99 |
R7388:Flrt3
|
UTSW |
2 |
140,503,672 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7444:Flrt3
|
UTSW |
2 |
140,502,387 (GRCm39) |
missense |
probably benign |
0.00 |
R7526:Flrt3
|
UTSW |
2 |
140,502,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R7967:Flrt3
|
UTSW |
2 |
140,501,811 (GRCm39) |
nonsense |
probably null |
|
R8272:Flrt3
|
UTSW |
2 |
140,502,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R9109:Flrt3
|
UTSW |
2 |
140,501,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R9257:Flrt3
|
UTSW |
2 |
140,502,159 (GRCm39) |
missense |
probably benign |
|
R9298:Flrt3
|
UTSW |
2 |
140,501,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R9482:Flrt3
|
UTSW |
2 |
140,503,590 (GRCm39) |
missense |
probably benign |
|
R9629:Flrt3
|
UTSW |
2 |
140,502,816 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGGCAGAGCAAGTCTCCAGG -3'
(R):5'- TGATTCTTCGCAACAATCCTTGG -3'
Sequencing Primer
(F):5'- TCAGGGGTGACAGATTTCAC -3'
(R):5'- CGCAACAATCCTTGGTATTGTG -3'
|
Posted On |
2020-10-20 |