Incidental Mutation 'R6854:Flrt3'
ID |
535134 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flrt3
|
Ensembl Gene |
ENSMUSG00000051379 |
Gene Name |
fibronectin leucine rich transmembrane protein 3 |
Synonyms |
5530600M07Rik, C430047I10Rik |
MMRRC Submission |
044957-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6854 (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 T
at 140502638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 330
(R330H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105684
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056760]
[ENSMUST00000078027]
[ENSMUST00000110057]
[ENSMUST00000110063]
[ENSMUST00000110064]
[ENSMUST00000110067]
|
AlphaFold |
Q8BGT1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056760
AA Change: R330H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000053399 Gene: ENSMUSG00000051379 AA Change: R330H
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 damaging
Transcript: ENSMUST00000110057
AA Change: R330H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000105684 Gene: ENSMUSG00000051379 AA Change: R330H
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 |
|
Meta Mutation Damage Score |
0.2543 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (44/44) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
C |
19: 8,992,599 (GRCm39) |
S4628P |
probably damaging |
Het |
Aspm |
G |
A |
1: 139,390,920 (GRCm39) |
R735H |
possibly damaging |
Het |
Atp4a |
T |
C |
7: 30,414,433 (GRCm39) |
V152A |
probably benign |
Het |
BC035947 |
G |
A |
1: 78,475,125 (GRCm39) |
T469I |
probably damaging |
Het |
Bicra |
A |
T |
7: 15,722,687 (GRCm39) |
S277T |
probably benign |
Het |
Catsperg1 |
A |
T |
7: 28,881,127 (GRCm39) |
N1142K |
possibly damaging |
Het |
Ccnd3 |
T |
C |
17: 47,889,645 (GRCm39) |
|
probably benign |
Het |
Cdc25a |
A |
G |
9: 109,708,995 (GRCm39) |
K79E |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,269,391 (GRCm39) |
|
probably null |
Het |
Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
Gm6034 |
T |
A |
17: 36,368,110 (GRCm39) |
|
probably null |
Het |
Hivep1 |
A |
G |
13: 42,309,983 (GRCm39) |
E741G |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,004,258 (GRCm39) |
V448A |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,702,382 (GRCm39) |
R679G |
probably benign |
Het |
Klrb1c |
A |
G |
6: 128,765,381 (GRCm39) |
S70P |
possibly damaging |
Het |
Maml2 |
C |
T |
9: 13,617,131 (GRCm39) |
T159I |
possibly damaging |
Het |
Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
Mycl |
G |
A |
4: 122,894,039 (GRCm39) |
D280N |
probably damaging |
Het |
Nlrp1b |
G |
A |
11: 71,119,259 (GRCm39) |
T12I |
possibly damaging |
Het |
Or4f14c |
T |
C |
2: 111,940,992 (GRCm39) |
N202D |
probably benign |
Het |
Or5h19 |
A |
C |
16: 58,856,428 (GRCm39) |
I224S |
possibly damaging |
Het |
Palmd |
A |
G |
3: 116,717,112 (GRCm39) |
S462P |
probably benign |
Het |
Phyhd1 |
A |
C |
2: 30,159,773 (GRCm39) |
I36L |
possibly damaging |
Het |
Plcd1 |
T |
C |
9: 118,903,389 (GRCm39) |
|
probably null |
Het |
Pml |
G |
C |
9: 58,127,189 (GRCm39) |
A806G |
probably damaging |
Het |
Ppp6r1 |
C |
A |
7: 4,635,395 (GRCm39) |
A838S |
probably benign |
Het |
Prkdc |
C |
T |
16: 15,469,402 (GRCm39) |
T169I |
probably damaging |
Het |
Prr23a1 |
G |
T |
9: 98,724,988 (GRCm39) |
V117L |
possibly damaging |
Het |
Pus7 |
T |
C |
5: 23,973,845 (GRCm39) |
|
silent |
Het |
Rdh7 |
T |
C |
10: 127,724,250 (GRCm39) |
E78G |
probably benign |
Het |
Repin1 |
G |
T |
6: 48,570,825 (GRCm39) |
|
probably benign |
Het |
Rptn |
A |
G |
3: 93,305,430 (GRCm39) |
N921S |
possibly damaging |
Het |
Sema4f |
A |
G |
6: 82,894,983 (GRCm39) |
L404P |
probably damaging |
Het |
Serinc4 |
T |
A |
2: 121,287,031 (GRCm39) |
M2L |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,001,604 (GRCm39) |
V138A |
probably benign |
Het |
Slc66a3 |
G |
A |
12: 17,049,830 (GRCm39) |
L43F |
probably damaging |
Het |
Speer2 |
T |
A |
16: 69,655,775 (GRCm39) |
Q106L |
probably damaging |
Het |
Sptb |
G |
A |
12: 76,650,254 (GRCm39) |
P1821L |
probably damaging |
Het |
St3gal3 |
C |
A |
4: 117,815,727 (GRCm39) |
M107I |
probably benign |
Het |
Tmem25 |
T |
C |
9: 44,707,305 (GRCm39) |
K265E |
possibly damaging |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Vsig10 |
G |
A |
5: 117,476,472 (GRCm39) |
V309I |
probably benign |
Het |
Zfp318 |
G |
GAAGAAA |
17: 46,723,468 (GRCm39) |
|
probably benign |
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 |
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'- TGTAGTTCGCTGATCCTTAATGAGC -3'
(R):5'- AAGGCAGCTGTATCGACTCG -3'
Sequencing Primer
(F):5'- CGCTGATCCTTAATGAGCTTGGG -3'
(R):5'- CCTCAGGGTATCTTTGATGA -3'
|
Posted On |
2018-09-12 |