Incidental Mutation 'R2326:Flrt3'
| ID |
244907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flrt3
|
| Ensembl Gene |
ENSMUSG00000051379 |
| Gene Name |
fibronectin leucine rich transmembrane protein 3 |
| Synonyms |
5530600M07Rik, C430047I10Rik |
| MMRRC Submission |
040317-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2326 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
140500118-140513396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 140503311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 106
(V106F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056760]
[ENSMUST00000078027]
[ENSMUST00000110057]
[ENSMUST00000110063]
[ENSMUST00000110064]
[ENSMUST00000110067]
|
| AlphaFold |
Q8BGT1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056760
AA Change: V106F
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000053399
Gene: ENSMUSG00000051379
AA Change: V106F
| 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 |
possibly damaging
Transcript: ENSMUST00000110057
AA Change: V106F
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105684
Gene: ENSMUSG00000051379
AA Change: V106F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172544
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (31/31) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,237,940 (GRCm39) |
T45A |
probably benign |
Het |
| Cdyl2 |
A |
G |
8: 117,350,537 (GRCm39) |
V198A |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,268,396 (GRCm39) |
I443K |
probably benign |
Het |
| Dazap1 |
T |
A |
10: 80,120,067 (GRCm39) |
M234K |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,835,442 (GRCm39) |
|
probably benign |
Het |
| Dusp8 |
A |
G |
7: 141,643,800 (GRCm39) |
Y38H |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,041,857 (GRCm39) |
|
probably null |
Het |
| Fem1b |
T |
C |
9: 62,704,285 (GRCm39) |
H325R |
probably damaging |
Het |
| Foxp2 |
T |
A |
6: 15,409,938 (GRCm39) |
S513T |
possibly damaging |
Het |
| Gm5600 |
G |
T |
7: 113,307,041 (GRCm39) |
|
noncoding transcript |
Het |
| Haspin |
A |
G |
11: 73,026,911 (GRCm39) |
I726T |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,918,563 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
A |
T |
3: 157,876,298 (GRCm39) |
H597Q |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
C |
T |
2: 135,781,893 (GRCm39) |
T238M |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,873 (GRCm39) |
|
probably null |
Het |
| Prph |
C |
G |
15: 98,953,163 (GRCm39) |
|
probably benign |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
G |
7: 46,342,235 (GRCm39) |
F403L |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,758 (GRCm39) |
T177I |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,936,115 (GRCm39) |
E52K |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
A |
12: 104,935,493 (GRCm39) |
E95V |
probably damaging |
Het |
| Vmn1r58 |
G |
T |
7: 5,413,939 (GRCm39) |
T97N |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,916,287 (GRCm39) |
L300W |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,720,421 (GRCm39) |
E388G |
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 |
|
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 |
|
R8441:Flrt3
|
UTSW |
2 |
140,502,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CCTCAATAGTCCTGGGCAAG -3'
(R):5'- AACGATCGCTCTCTGACATC -3'
Sequencing Primer
(F):5'- CCCGGGATTGTGCTAAGG -3'
(R):5'- CTGACATCCATTCCAGTGGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation