Incidental Mutation 'R6117:Flrt3'
| ID |
485149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flrt3
|
| Ensembl Gene |
ENSMUSG00000051379 |
| Gene Name |
fibronectin leucine rich transmembrane protein 3 |
| Synonyms |
5530600M07Rik, C430047I10Rik |
| MMRRC Submission |
044266-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6117 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
140500118-140513396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140502365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 421
(D421V)
|
| 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: D421V
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000053399
Gene: ENSMUSG00000051379
AA Change: D421V
| 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: D421V
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105684
Gene: ENSMUSG00000051379
AA Change: D421V
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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 |
|---|
| Agbl1 |
A |
G |
7: 76,348,534 (GRCm39) |
Y625C |
probably damaging |
Het |
| Ankmy1 |
A |
G |
1: 92,788,996 (GRCm39) |
|
probably benign |
Het |
| Apmap |
T |
C |
2: 150,442,252 (GRCm39) |
T41A |
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,341,350 (GRCm39) |
Y1804C |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,437,537 (GRCm39) |
I333N |
possibly damaging |
Het |
| Cdsn |
C |
A |
17: 35,865,931 (GRCm39) |
S153R |
unknown |
Het |
| Celsr1 |
A |
T |
15: 85,816,612 (GRCm39) |
M1777K |
probably benign |
Het |
| Cmtr1 |
A |
G |
17: 29,901,139 (GRCm39) |
M249V |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,231,674 (GRCm39) |
L1138P |
probably damaging |
Het |
| Crim1 |
A |
C |
17: 78,610,517 (GRCm39) |
D324A |
probably damaging |
Het |
| Dmap1 |
T |
A |
4: 117,532,732 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,010,397 (GRCm39) |
Y307C |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,270,566 (GRCm39) |
L956H |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,663,750 (GRCm39) |
S537N |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,439,173 (GRCm39) |
L323Q |
probably damaging |
Het |
| Fads3 |
A |
T |
19: 10,031,631 (GRCm39) |
H226L |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,607,060 (GRCm39) |
V370A |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,580,471 (GRCm39) |
|
probably null |
Het |
| Gm2178 |
T |
C |
14: 26,235,995 (GRCm39) |
|
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,937,888 (GRCm39) |
N390S |
probably benign |
Het |
| Hoxa10 |
T |
A |
6: 52,211,800 (GRCm39) |
R39* |
probably null |
Het |
| Kcnj1 |
A |
G |
9: 32,308,478 (GRCm39) |
T281A |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,805,745 (GRCm39) |
Y1709H |
probably benign |
Het |
| Nacad |
T |
C |
11: 6,549,810 (GRCm39) |
D1127G |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,245 (GRCm39) |
M1L |
probably damaging |
Het |
| Or10ak9 |
A |
T |
4: 118,726,341 (GRCm39) |
Y121F |
probably benign |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Pcdhb12 |
G |
A |
18: 37,568,695 (GRCm39) |
|
probably benign |
Het |
| Pde1b |
T |
C |
15: 103,429,909 (GRCm39) |
V134A |
probably damaging |
Het |
| Plxnb2 |
A |
T |
15: 89,042,203 (GRCm39) |
D1600E |
probably benign |
Het |
| Prss54 |
T |
A |
8: 96,292,086 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,465,741 (GRCm39) |
I4757N |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,624,822 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Sox15 |
G |
T |
11: 69,546,716 (GRCm39) |
G173V |
possibly damaging |
Het |
| Stard3 |
T |
C |
11: 98,263,088 (GRCm39) |
S48P |
probably damaging |
Het |
| Stk32c |
G |
A |
7: 138,702,839 (GRCm39) |
Q67* |
probably null |
Het |
| Svil |
T |
A |
18: 5,116,016 (GRCm39) |
W2101R |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,914,427 (GRCm39) |
Y306N |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,154,280 (GRCm39) |
M1485L |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,014,261 (GRCm39) |
D504G |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,739,771 (GRCm39) |
L1091S |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,714,226 (GRCm39) |
E2856G |
possibly damaging |
Het |
| Usp47 |
C |
T |
7: 111,687,139 (GRCm39) |
T699M |
probably 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 |
|
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'- CAAACAGGTAAAGGTTACTGGTTTCC -3'
(R):5'- ACAGTGGGATTGTGAGCACC -3'
Sequencing Primer
(F):5'- AAAGGTTACTGGTTTCCATGGGAAC -3'
(R):5'- GGATTGTGAGCACCATTCAGATAACC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation