Incidental Mutation 'R5085:Flrt3'
| ID |
387352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flrt3
|
| Ensembl Gene |
ENSMUSG00000051379 |
| Gene Name |
fibronectin leucine rich transmembrane protein 3 |
| Synonyms |
5530600M07Rik, C430047I10Rik |
| MMRRC Submission |
042674-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5085 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
140500118-140513396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140502177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 484
(T484A)
|
| 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: T484A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000053399
Gene: ENSMUSG00000051379
AA Change: T484A
| 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: T484A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105684
Gene: ENSMUSG00000051379
AA Change: T484A
| 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 |
0.0642 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
92% (69/75) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,653,837 (GRCm39) |
K129* |
probably null |
Het |
| Adamts6 |
A |
T |
13: 104,443,751 (GRCm39) |
D162V |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,597,714 (GRCm39) |
P1316T |
possibly damaging |
Het |
| AU040320 |
A |
T |
4: 126,722,664 (GRCm39) |
N394I |
possibly damaging |
Het |
| Cacng8 |
T |
C |
7: 3,464,096 (GRCm39) |
L416P |
possibly damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,419,313 (GRCm39) |
N944K |
probably damaging |
Het |
| Clcn1 |
C |
T |
6: 42,290,814 (GRCm39) |
T896I |
probably benign |
Het |
| Col16a1 |
A |
T |
4: 129,947,964 (GRCm39) |
Y228F |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,548,083 (GRCm39) |
D561G |
probably benign |
Het |
| Ddr1 |
T |
A |
17: 35,993,667 (GRCm39) |
|
probably null |
Het |
| Dedd2 |
A |
T |
7: 24,918,411 (GRCm39) |
L48Q |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dph3b-ps |
A |
G |
13: 106,683,558 (GRCm39) |
|
noncoding transcript |
Het |
| Dppa3 |
T |
C |
6: 122,606,891 (GRCm39) |
F127S |
probably damaging |
Het |
| Dpy19l4 |
C |
T |
4: 11,265,943 (GRCm39) |
|
probably null |
Het |
| Gldc |
T |
C |
19: 30,128,936 (GRCm39) |
E179G |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,200,282 (GRCm39) |
E76G |
probably benign |
Het |
| Gm6421 |
G |
A |
13: 117,494,969 (GRCm39) |
|
noncoding transcript |
Het |
| Grk5 |
T |
C |
19: 61,065,122 (GRCm39) |
V262A |
probably damaging |
Het |
| Grp |
A |
G |
18: 66,013,230 (GRCm39) |
Q132R |
probably benign |
Het |
| Hap1 |
A |
G |
11: 100,246,537 (GRCm39) |
F123L |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,986,445 (GRCm39) |
D532G |
probably damaging |
Het |
| Igsf9b |
C |
A |
9: 27,228,733 (GRCm39) |
F164L |
probably benign |
Het |
| Irag1 |
G |
T |
7: 110,470,700 (GRCm39) |
L672I |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kansl1 |
C |
T |
11: 104,315,168 (GRCm39) |
R290Q |
probably damaging |
Het |
| Kifc2 |
T |
A |
15: 76,545,496 (GRCm39) |
L81Q |
probably damaging |
Het |
| Klrc3 |
T |
C |
6: 129,616,538 (GRCm39) |
R160G |
probably damaging |
Het |
| Mal |
A |
G |
2: 127,482,193 (GRCm39) |
M70T |
probably benign |
Het |
| Mep1a |
T |
G |
17: 43,789,035 (GRCm39) |
R580S |
probably damaging |
Het |
| Methig1 |
A |
T |
15: 100,251,130 (GRCm39) |
I14F |
probably damaging |
Het |
| Mtf1 |
T |
C |
4: 124,715,101 (GRCm39) |
L242P |
probably damaging |
Het |
| Nfkb1 |
C |
A |
3: 135,309,568 (GRCm39) |
A509S |
probably benign |
Het |
| Or2h2b-ps1 |
C |
G |
17: 37,480,858 (GRCm39) |
S227T |
probably benign |
Het |
| Or2n1b |
G |
A |
17: 38,460,003 (GRCm39) |
D175N |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,449 (GRCm39) |
I205K |
probably damaging |
Het |
| Or7a36 |
G |
T |
10: 78,819,928 (GRCm39) |
M101I |
probably benign |
Het |
| Or8k23 |
A |
T |
2: 86,186,318 (GRCm39) |
M136K |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,907,635 (GRCm39) |
N300I |
probably damaging |
Het |
| Peg10 |
C |
T |
6: 4,755,864 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
T |
A |
6: 14,719,603 (GRCm39) |
D437V |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,398,783 (GRCm39) |
S682P |
probably damaging |
Het |
| Prkab2 |
T |
C |
3: 97,580,308 (GRCm39) |
|
probably benign |
Het |
| Pus3 |
T |
A |
9: 35,476,932 (GRCm39) |
L243Q |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,605,905 (GRCm39) |
S182G |
probably damaging |
Het |
| Rgs19 |
G |
A |
2: 181,331,336 (GRCm39) |
T99M |
possibly damaging |
Het |
| Ripk2 |
A |
G |
4: 16,127,663 (GRCm39) |
S360P |
possibly damaging |
Het |
| Rock1 |
A |
G |
18: 10,140,210 (GRCm39) |
I127T |
probably damaging |
Het |
| Serpinb10 |
T |
G |
1: 107,469,947 (GRCm39) |
M143R |
probably damaging |
Het |
| Sipa1l3 |
G |
A |
7: 29,048,000 (GRCm39) |
S247F |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 113,093,465 (GRCm39) |
Q226L |
probably damaging |
Het |
| Slc6a19 |
T |
C |
13: 73,839,872 (GRCm39) |
M137V |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,271,291 (GRCm39) |
N415K |
probably benign |
Het |
| Tekt4 |
A |
G |
17: 25,692,749 (GRCm39) |
R192G |
probably damaging |
Het |
| Trgv7 |
A |
T |
13: 19,362,598 (GRCm39) |
K96* |
probably null |
Het |
| Tshz1 |
T |
C |
18: 84,032,053 (GRCm39) |
N785S |
probably benign |
Het |
| Usb1 |
A |
G |
8: 96,070,679 (GRCm39) |
T202A |
probably damaging |
Het |
| Utp18 |
A |
T |
11: 93,761,363 (GRCm39) |
D348E |
possibly damaging |
Het |
| Vmn1r42 |
T |
G |
6: 89,821,598 (GRCm39) |
I324L |
probably benign |
Het |
| Wnt8a |
A |
T |
18: 34,678,656 (GRCm39) |
R157* |
probably null |
Het |
| Ypel1 |
A |
G |
16: 16,902,472 (GRCm39) |
|
probably null |
Het |
| Zfp235 |
A |
G |
7: 23,836,546 (GRCm39) |
K31E |
probably damaging |
Het |
| Zhx2 |
G |
C |
15: 57,686,089 (GRCm39) |
W486S |
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 |
|
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'- TGAAAACAGTGACCCGTTCC -3'
(R):5'- GGAGACTTGCTCTGCCTATG -3'
Sequencing Primer
(F):5'- AACAGTGACCCGTTCCTATGC -3'
(R):5'- ATGACTGCTCTGCGACTCAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation