Incidental Mutation 'IGL02292:Flrt3'
| ID |
290083 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Flrt3
|
| Ensembl Gene |
ENSMUSG00000051379 |
| Gene Name |
fibronectin leucine rich transmembrane protein 3 |
| Synonyms |
5530600M07Rik, C430047I10Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
140500118-140513396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 140502045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 528
(P528S)
|
| 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: P528S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053399
Gene: ENSMUSG00000051379
AA Change: P528S
| 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: P528S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105684
Gene: ENSMUSG00000051379
AA Change: P528S
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,263,982 (GRCm39) |
M51V |
probably benign |
Het |
| Abcb5 |
C |
T |
12: 118,881,932 (GRCm39) |
G599D |
probably damaging |
Het |
| Aim2 |
T |
A |
1: 173,289,840 (GRCm39) |
I261N |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,727,653 (GRCm39) |
H261R |
possibly damaging |
Het |
| Ankrd12 |
G |
A |
17: 66,349,582 (GRCm39) |
H84Y |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,400,718 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
C |
T |
10: 80,138,258 (GRCm39) |
P139S |
possibly damaging |
Het |
| Cct7 |
A |
G |
6: 85,438,091 (GRCm39) |
Y111C |
probably benign |
Het |
| Cd226 |
G |
A |
18: 89,225,216 (GRCm39) |
V38I |
possibly damaging |
Het |
| Cdh3 |
A |
G |
8: 107,271,833 (GRCm39) |
Y582C |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,261,884 (GRCm39) |
D871G |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,423,698 (GRCm39) |
N133I |
probably damaging |
Het |
| Fem1b |
T |
C |
9: 62,703,977 (GRCm39) |
I428V |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm9476 |
A |
C |
10: 100,143,046 (GRCm39) |
|
noncoding transcript |
Het |
| Itgae |
T |
C |
11: 73,009,361 (GRCm39) |
I515T |
probably damaging |
Het |
| Itih1 |
T |
A |
14: 30,655,312 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
G |
17: 12,454,045 (GRCm39) |
V1419A |
possibly damaging |
Het |
| Mfsd6l |
A |
T |
11: 68,448,576 (GRCm39) |
I476L |
probably benign |
Het |
| Mrpl2 |
T |
C |
17: 46,959,157 (GRCm39) |
|
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,917,729 (GRCm39) |
L314P |
probably damaging |
Het |
| Msto1 |
C |
A |
3: 88,819,131 (GRCm39) |
R205S |
probably benign |
Het |
| Myh9 |
A |
T |
15: 77,692,196 (GRCm39) |
I121N |
probably damaging |
Het |
| Omt2a |
G |
A |
9: 78,220,621 (GRCm39) |
R20C |
possibly damaging |
Het |
| Or4c11b |
G |
A |
2: 88,625,631 (GRCm39) |
V302I |
probably benign |
Het |
| Pdpr |
G |
A |
8: 111,852,312 (GRCm39) |
V560I |
probably damaging |
Het |
| Rimkla |
A |
T |
4: 119,325,549 (GRCm39) |
C287S |
probably damaging |
Het |
| Shcbp1l |
T |
A |
1: 153,311,891 (GRCm39) |
|
probably benign |
Het |
| Tm7sf2 |
T |
A |
19: 6,113,598 (GRCm39) |
K111I |
probably damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,350,802 (GRCm39) |
E322G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,711,543 (GRCm39) |
|
probably benign |
Het |
| Zbtb20 |
T |
A |
16: 43,431,011 (GRCm39) |
Y507* |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation