Incidental Mutation 'R6746:Flrt3'
| ID |
532815 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flrt3
|
| Ensembl Gene |
ENSMUSG00000051379 |
| Gene Name |
fibronectin leucine rich transmembrane protein 3 |
| Synonyms |
5530600M07Rik, C430047I10Rik |
| MMRRC Submission |
044863-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6746 (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 140501945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 561
(R561Q)
|
| 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: R561Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000053399
Gene: ENSMUSG00000051379
AA Change: R561Q
| 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: R561Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105684
Gene: ENSMUSG00000051379
AA Change: R561Q
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,565,195 (GRCm39) |
L79* |
probably null |
Het |
| Acot3 |
A |
G |
12: 84,100,248 (GRCm39) |
N8S |
probably benign |
Het |
| Adora2a |
T |
C |
10: 75,169,442 (GRCm39) |
V302A |
probably benign |
Het |
| Anpep |
A |
C |
7: 79,488,933 (GRCm39) |
|
probably null |
Het |
| Arrb1 |
A |
G |
7: 99,250,357 (GRCm39) |
K392E |
probably benign |
Het |
| Atp8a1 |
A |
T |
5: 67,908,392 (GRCm39) |
N444K |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,623,020 (GRCm39) |
N298K |
probably benign |
Het |
| Brinp2 |
C |
T |
1: 158,094,160 (GRCm39) |
G181R |
probably benign |
Het |
| Cacna1g |
A |
T |
11: 94,300,253 (GRCm39) |
C2184* |
probably null |
Het |
| Cacna1h |
C |
T |
17: 25,600,524 (GRCm39) |
A1606T |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,213,915 (GRCm39) |
T205A |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,696 (GRCm39) |
I759T |
probably damaging |
Het |
| Chaf1a |
A |
G |
17: 56,370,404 (GRCm39) |
D623G |
possibly damaging |
Het |
| Col6a3 |
G |
T |
1: 90,706,767 (GRCm39) |
N2115K |
unknown |
Het |
| Dync1h1 |
A |
T |
12: 110,618,087 (GRCm39) |
T3209S |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,523,987 (GRCm39) |
D629G |
possibly damaging |
Het |
| Fahd1 |
G |
T |
17: 25,068,915 (GRCm39) |
A54E |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,747,790 (GRCm39) |
D334V |
probably damaging |
Het |
| Helb |
A |
T |
10: 119,941,373 (GRCm39) |
D438E |
probably damaging |
Het |
| Hmgcs1 |
T |
C |
13: 120,156,585 (GRCm39) |
|
probably null |
Het |
| Hnf4g |
C |
A |
3: 3,722,170 (GRCm39) |
Y441* |
probably null |
Het |
| Hspa13 |
A |
T |
16: 75,561,925 (GRCm39) |
N91K |
possibly damaging |
Het |
| Ilvbl |
T |
C |
10: 78,413,057 (GRCm39) |
I193T |
possibly damaging |
Het |
| Itga7 |
T |
C |
10: 128,785,341 (GRCm39) |
V848A |
probably benign |
Het |
| Kash5 |
C |
T |
7: 44,849,735 (GRCm39) |
V63I |
probably benign |
Het |
| Lpin1 |
A |
G |
12: 16,615,529 (GRCm39) |
M341T |
probably benign |
Het |
| Lypd5 |
G |
T |
7: 24,052,531 (GRCm39) |
|
probably null |
Het |
| Mrgprb1 |
A |
C |
7: 48,097,645 (GRCm39) |
V89G |
possibly damaging |
Het |
| Nsun7 |
T |
C |
5: 66,441,080 (GRCm39) |
|
probably null |
Het |
| Oasl1 |
T |
A |
5: 115,075,242 (GRCm39) |
V434E |
probably damaging |
Het |
| Or2ak6 |
G |
A |
11: 58,593,369 (GRCm39) |
V281I |
probably benign |
Het |
| Or7g22 |
A |
G |
9: 19,048,774 (GRCm39) |
M162V |
probably benign |
Het |
| Or8k16 |
T |
C |
2: 85,519,952 (GRCm39) |
Y60H |
probably damaging |
Het |
| Otor |
T |
A |
2: 142,921,955 (GRCm39) |
|
probably null |
Het |
| Pik3cg |
G |
A |
12: 32,244,757 (GRCm39) |
T899M |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,590,695 (GRCm39) |
D74G |
probably benign |
Het |
| Pld2 |
C |
A |
11: 70,431,933 (GRCm39) |
L52M |
probably damaging |
Het |
| Pon3 |
A |
T |
6: 5,230,786 (GRCm39) |
M247K |
possibly damaging |
Het |
| Ppfia2 |
C |
A |
10: 106,742,319 (GRCm39) |
Y1037* |
probably null |
Het |
| Ppm1m |
A |
T |
9: 106,075,351 (GRCm39) |
C99* |
probably null |
Het |
| Prss44 |
A |
T |
9: 110,644,361 (GRCm39) |
*145C |
probably null |
Het |
| Ptpro |
T |
A |
6: 137,371,821 (GRCm39) |
Y613N |
probably damaging |
Het |
| Ralgapb |
T |
G |
2: 158,318,056 (GRCm39) |
V866G |
probably damaging |
Het |
| Rassf6 |
C |
A |
5: 90,757,633 (GRCm39) |
R109L |
possibly damaging |
Het |
| Rbm4b |
A |
C |
19: 4,812,031 (GRCm39) |
T147P |
probably benign |
Het |
| Rpl7l1 |
T |
C |
17: 47,090,322 (GRCm39) |
K104R |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,816,829 (GRCm39) |
I69N |
possibly damaging |
Het |
| Scd1 |
G |
T |
19: 44,394,927 (GRCm39) |
F99L |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,585,844 (GRCm39) |
I22N |
probably benign |
Het |
| Spint2 |
A |
T |
7: 28,958,848 (GRCm39) |
S66T |
probably benign |
Het |
| Tarm1 |
T |
A |
7: 3,550,978 (GRCm39) |
I2F |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,542,067 (GRCm39) |
V1860A |
probably damaging |
Het |
| Usp38 |
A |
G |
8: 81,740,920 (GRCm39) |
I49T |
possibly damaging |
Het |
| Vars2 |
A |
G |
17: 35,971,294 (GRCm39) |
|
probably null |
Het |
| Vmn2r27 |
T |
G |
6: 124,177,552 (GRCm39) |
H484P |
possibly damaging |
Het |
| Wdr35 |
T |
A |
12: 9,053,982 (GRCm39) |
|
probably null |
Het |
| Zfp937 |
A |
T |
2: 150,081,343 (GRCm39) |
K458* |
probably null |
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 |
|
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'- CGGTTACTACTGCTCTCACTGAG -3'
(R):5'- AAACTGCCCCTCTTCGAATG -3'
Sequencing Primer
(F):5'- GTACAGATTCATCCCATTCGGAGG -3'
(R):5'- GCCCCTCTTCGAATGTACAAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation