Incidental Mutation 'R2471:Flrt1'
| ID |
253129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flrt1
|
| Ensembl Gene |
ENSMUSG00000047787 |
| Gene Name |
fibronectin leucine rich transmembrane protein 1 |
| Synonyms |
D630040I23Rik |
| MMRRC Submission |
040403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R2471 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
7069366-7083094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7073856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 230
(D230E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040261]
[ENSMUST00000113383]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040261
|
| SMART Domains |
Protein: ENSMUSP00000039507
Gene: ENSMUSG00000036278
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
|
A1pp
|
151 |
281 |
7.67e-46 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113383
AA Change: D230E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109010
Gene: ENSMUSG00000047787
AA Change: D230E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
LRRNT
|
53 |
85 |
4.11e-6 |
SMART |
|
LRR
|
127 |
149 |
2.61e1 |
SMART |
|
LRR
|
150 |
175 |
4.71e1 |
SMART |
|
LRR
|
177 |
199 |
1.76e1 |
SMART |
|
LRR
|
200 |
220 |
7.36e0 |
SMART |
|
LRR
|
221 |
246 |
1.49e1 |
SMART |
|
LRR
|
247 |
270 |
9.77e1 |
SMART |
|
LRR
|
271 |
292 |
1.53e1 |
SMART |
|
LRR_TYP
|
293 |
316 |
3.55e-6 |
SMART |
|
LRRCT
|
328 |
379 |
5.19e-9 |
SMART |
|
low complexity region
|
381 |
392 |
N/A |
INTRINSIC |
|
FN3
|
434 |
515 |
1.49e0 |
SMART |
|
transmembrane domain
|
556 |
578 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq, Jul 2008]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
T |
9: 55,888,147 (GRCm39) |
M390K |
probably benign |
Het |
| Bicra |
A |
G |
7: 15,706,257 (GRCm39) |
S1395P |
probably benign |
Het |
| Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,261,776 (GRCm39) |
D907V |
probably damaging |
Het |
| Cstl1 |
T |
A |
2: 148,593,041 (GRCm39) |
Y65* |
probably null |
Het |
| Dnajc1 |
T |
C |
2: 18,224,627 (GRCm39) |
I213V |
possibly damaging |
Het |
| Emcn |
C |
T |
3: 137,109,772 (GRCm39) |
T138M |
probably damaging |
Het |
| F3 |
G |
T |
3: 121,518,689 (GRCm39) |
W51L |
probably damaging |
Het |
| Far2 |
A |
G |
6: 148,040,192 (GRCm39) |
Y41C |
probably damaging |
Het |
| Gimap7 |
G |
A |
6: 48,700,986 (GRCm39) |
V191M |
probably damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,531 (GRCm39) |
E230G |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,247,307 (GRCm39) |
E340G |
probably benign |
Het |
| Map4k5 |
T |
C |
12: 69,903,620 (GRCm39) |
I62V |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,067,244 (GRCm39) |
K588R |
possibly damaging |
Het |
| Mctp2 |
T |
A |
7: 71,810,909 (GRCm39) |
K52* |
probably null |
Het |
| Nr1h4 |
A |
T |
10: 89,309,756 (GRCm39) |
F310L |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,250,501 (GRCm39) |
S605F |
probably damaging |
Het |
| Or2w1b |
A |
T |
13: 21,300,599 (GRCm39) |
T246S |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,181,944 (GRCm39) |
S212R |
possibly damaging |
Het |
| Or5b97 |
G |
A |
19: 12,878,679 (GRCm39) |
T155I |
probably benign |
Het |
| Pcdh20 |
T |
G |
14: 88,704,672 (GRCm39) |
E876A |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,768,370 (GRCm39) |
A2215V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,210,327 (GRCm38) |
Y128H |
probably damaging |
Het |
| Sigirr |
A |
G |
7: 140,672,510 (GRCm39) |
L204S |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,540,706 (GRCm39) |
Y187F |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,312 (GRCm39) |
R86W |
probably null |
Het |
| Smc1b |
T |
C |
15: 84,976,218 (GRCm39) |
K830E |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,872,642 (GRCm39) |
N427D |
possibly damaging |
Het |
| Taar9 |
A |
T |
10: 23,985,289 (GRCm39) |
F48L |
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,474,272 (GRCm39) |
E319G |
probably damaging |
Het |
| Try10 |
T |
C |
6: 41,333,680 (GRCm39) |
S142P |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,644 (GRCm39) |
T626A |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,599,950 (GRCm39) |
E602G |
possibly damaging |
Het |
|
| Other mutations in Flrt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Flrt1
|
APN |
19 |
7,074,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01082:Flrt1
|
APN |
19 |
7,073,339 (GRCm39) |
missense |
probably benign |
|
|
IGL02535:Flrt1
|
APN |
19 |
7,074,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Flrt1
|
UTSW |
19 |
7,074,475 (GRCm39) |
intron |
probably benign |
|
|
R0240:Flrt1
|
UTSW |
19 |
7,074,475 (GRCm39) |
intron |
probably benign |
|
|
R0403:Flrt1
|
UTSW |
19 |
7,073,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0645:Flrt1
|
UTSW |
19 |
7,074,508 (GRCm39) |
intron |
probably benign |
|
|
R0677:Flrt1
|
UTSW |
19 |
7,073,544 (GRCm39) |
nonsense |
probably null |
|
|
R1818:Flrt1
|
UTSW |
19 |
7,072,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Flrt1
|
UTSW |
19 |
7,073,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2228:Flrt1
|
UTSW |
19 |
7,072,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4978:Flrt1
|
UTSW |
19 |
7,074,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5460:Flrt1
|
UTSW |
19 |
7,073,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5630:Flrt1
|
UTSW |
19 |
7,073,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Flrt1
|
UTSW |
19 |
7,073,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Flrt1
|
UTSW |
19 |
7,073,524 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6905:Flrt1
|
UTSW |
19 |
7,072,757 (GRCm39) |
nonsense |
probably null |
|
|
R7239:Flrt1
|
UTSW |
19 |
7,073,329 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7799:Flrt1
|
UTSW |
19 |
7,073,229 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8168:Flrt1
|
UTSW |
19 |
7,074,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Flrt1
|
UTSW |
19 |
7,073,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Flrt1
|
UTSW |
19 |
7,074,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCCAGGTCATCAAACAGG -3'
(R):5'- TTTCCACCGTGAGCATCGAG -3'
Sequencing Primer
(F):5'- GGTCATCAAACAGGCCCCG -3'
(R):5'- CCGTGAGCATCGAGGAGGATG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation