Incidental Mutation 'R6213:Flrt3'
ID |
503544 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flrt3
|
Ensembl Gene |
ENSMUSG00000051379 |
Gene Name |
fibronectin leucine rich transmembrane protein 3 |
Synonyms |
5530600M07Rik, C430047I10Rik |
MMRRC Submission |
044346-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6213 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
140500118-140513396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 140503085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 181
(R181H)
|
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: R181H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000053399 Gene: ENSMUSG00000051379 AA Change: R181H
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: R181H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105684 Gene: ENSMUSG00000051379 AA Change: R181H
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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
G |
16: 20,218,762 (GRCm39) |
Y207H |
probably damaging |
Het |
Adcy7 |
G |
A |
8: 89,040,765 (GRCm39) |
V335M |
probably damaging |
Het |
Apol11b |
A |
C |
15: 77,522,200 (GRCm39) |
D32E |
possibly damaging |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Cdkn1b |
T |
A |
6: 134,898,206 (GRCm39) |
D108E |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,359,222 (GRCm39) |
D984G |
probably benign |
Het |
Csde1 |
T |
C |
3: 102,947,830 (GRCm39) |
V128A |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,492,656 (GRCm39) |
S3162P |
probably damaging |
Het |
D5Ertd579e |
G |
A |
5: 36,759,978 (GRCm39) |
T1394I |
probably damaging |
Het |
Ddx6 |
T |
A |
9: 44,539,990 (GRCm39) |
L306Q |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 49,996,082 (GRCm39) |
S403T |
possibly damaging |
Het |
F11 |
G |
T |
8: 45,694,537 (GRCm39) |
T608K |
probably damaging |
Het |
Hs3st1 |
A |
T |
5: 39,771,864 (GRCm39) |
C260S |
probably damaging |
Het |
Ighv7-1 |
A |
T |
12: 113,860,141 (GRCm39) |
S84T |
probably damaging |
Het |
Inpp4b |
A |
G |
8: 82,724,019 (GRCm39) |
D332G |
probably damaging |
Het |
Irf2bpl |
T |
C |
12: 86,930,367 (GRCm39) |
Q102R |
probably benign |
Het |
Itpr3 |
T |
A |
17: 27,330,174 (GRCm39) |
D1597E |
probably benign |
Het |
Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
Lypd8 |
A |
G |
11: 58,281,160 (GRCm39) |
T241A |
probably benign |
Het |
Map1lc3a |
T |
C |
2: 155,118,935 (GRCm39) |
|
probably null |
Het |
Mast1 |
G |
A |
8: 85,642,198 (GRCm39) |
T1052I |
probably damaging |
Het |
Muc2 |
T |
C |
7: 141,305,151 (GRCm39) |
C152R |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,415,903 (GRCm39) |
M2950L |
probably benign |
Het |
Muc5b |
A |
G |
7: 141,421,356 (GRCm39) |
D4282G |
possibly damaging |
Het |
Myo16 |
G |
T |
8: 10,420,963 (GRCm39) |
|
probably null |
Het |
Myo9a |
T |
A |
9: 59,734,541 (GRCm39) |
F708I |
probably damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,353,549 (GRCm39) |
F558Y |
probably benign |
Het |
Nat9 |
A |
T |
11: 115,075,932 (GRCm39) |
W30R |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,364,390 (GRCm39) |
L1338S |
probably damaging |
Het |
Nipsnap3b |
A |
G |
4: 53,017,066 (GRCm39) |
T97A |
probably benign |
Het |
Npepps |
A |
T |
11: 97,132,823 (GRCm39) |
Y301* |
probably null |
Het |
Nrcam |
C |
T |
12: 44,609,215 (GRCm39) |
P447S |
possibly damaging |
Het |
Or14c41 |
A |
G |
7: 86,234,485 (GRCm39) |
M1V |
probably null |
Het |
Or1o4 |
T |
C |
17: 37,591,264 (GRCm39) |
S16G |
probably benign |
Het |
Or2a14 |
A |
G |
6: 43,130,821 (GRCm39) |
N194S |
possibly damaging |
Het |
Or52b4 |
T |
C |
7: 102,184,139 (GRCm39) |
Y62H |
probably damaging |
Het |
Pacsin3 |
G |
T |
2: 91,090,779 (GRCm39) |
V29F |
probably damaging |
Het |
Pdzrn3 |
A |
C |
6: 101,354,805 (GRCm39) |
D15E |
probably damaging |
Het |
Phf20l1 |
T |
C |
15: 66,504,752 (GRCm39) |
|
probably null |
Het |
Pign |
A |
C |
1: 105,516,991 (GRCm39) |
V545G |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,593,994 (GRCm39) |
N1373S |
possibly damaging |
Het |
Ptchd4 |
T |
A |
17: 42,688,251 (GRCm39) |
H264Q |
probably benign |
Het |
Ptpn3 |
G |
T |
4: 57,265,012 (GRCm39) |
Q73K |
probably damaging |
Het |
Ptrh1 |
G |
A |
2: 32,666,757 (GRCm39) |
V109I |
probably benign |
Het |
Reg1 |
A |
T |
6: 78,404,386 (GRCm39) |
I87F |
possibly damaging |
Het |
Rrp12 |
C |
A |
19: 41,857,217 (GRCm39) |
V1186L |
probably benign |
Het |
Sall1 |
AGTGGTGGTGGTGGTGGTGGTGG |
AGTGGTGGTGGTGGTGGTGG |
8: 89,759,686 (GRCm39) |
|
probably benign |
Het |
Slc23a3 |
A |
C |
1: 75,108,392 (GRCm39) |
F279V |
probably benign |
Het |
Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
Suds3 |
A |
G |
5: 117,244,727 (GRCm39) |
L115P |
probably damaging |
Het |
Tekt2 |
G |
A |
4: 126,216,989 (GRCm39) |
A260V |
probably damaging |
Het |
Tgfb3 |
T |
A |
12: 86,104,621 (GRCm39) |
Y391F |
probably damaging |
Het |
Topbp1 |
T |
C |
9: 103,209,950 (GRCm39) |
S866P |
probably benign |
Het |
Tspan14 |
A |
G |
14: 40,635,372 (GRCm39) |
Y175H |
probably benign |
Het |
Vars2 |
T |
C |
17: 35,971,332 (GRCm39) |
T568A |
probably benign |
Het |
Vmn1r216 |
T |
G |
13: 23,283,339 (GRCm39) |
D7E |
probably benign |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Zfp281 |
T |
C |
1: 136,553,250 (GRCm39) |
V76A |
probably benign |
Het |
Zfp36l2 |
T |
C |
17: 84,493,980 (GRCm39) |
N219S |
probably damaging |
Het |
Zfp626 |
T |
C |
7: 27,507,717 (GRCm39) |
M42T |
probably benign |
Het |
Zscan21 |
C |
T |
5: 138,123,359 (GRCm39) |
P13S |
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 |
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'- TCTTGAAGGTAAAGCTTCCTCAGG -3'
(R):5'- TCACTTTCGAAAATTCCGTATCTGG -3'
Sequencing Primer
(F):5'- AAAGCTTCCTCAGGCTTGTG -3'
(R):5'- CCGTATCTGGAAGAGTTACACTTG -3'
|
Posted On |
2018-02-27 |