Incidental Mutation 'R3767:Fgfrl1'
| ID |
273049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgfrl1
|
| Ensembl Gene |
ENSMUSG00000008090 |
| Gene Name |
fibroblast growth factor receptor-like 1 |
| Synonyms |
FGFR5gamma, fibroblast growth factor receptor 5, FGFR5, FGFR5beta |
| MMRRC Submission |
040744-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3767 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108842051-108854816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 108853242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 197
(H197Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013633]
[ENSMUST00000112560]
[ENSMUST00000196222]
[ENSMUST00000197255]
|
| AlphaFold |
Q91V87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013633
AA Change: H288Q
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000013633
Gene: ENSMUSG00000008090
AA Change: H288Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
38 |
102 |
2.64e-12 |
SMART |
|
low complexity region
|
117 |
131 |
N/A |
INTRINSIC |
|
IGc2
|
159 |
224 |
1.35e-18 |
SMART |
|
IGc2
|
255 |
341 |
6.16e-4 |
SMART |
|
transmembrane domain
|
372 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
479 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112560
AA Change: H197Q
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108179
Gene: ENSMUSG00000008090
AA Change: H197Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
IGc2
|
68 |
133 |
1.35e-18 |
SMART |
|
IGc2
|
164 |
250 |
6.16e-4 |
SMART |
|
transmembrane domain
|
281 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196222
|
| SMART Domains |
Protein: ENSMUSP00000143037
Gene: ENSMUSG00000008090
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
38 |
102 |
1.1e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199802
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show neonatal death due to respiratory distress, a malformed diaphragm, and lack of metanephric kidneys. Homozygotes for a different null allele show both fetal and neonatal death, a similar diaphragm defect, as well as cardiac and skeletal defects, and fetal anemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipoq |
T |
A |
16: 22,975,938 (GRCm39) |
V134E |
possibly damaging |
Het |
| Agmat |
A |
G |
4: 141,483,273 (GRCm39) |
T236A |
probably benign |
Het |
| Anxa9 |
T |
C |
3: 95,208,425 (GRCm39) |
N197S |
probably benign |
Het |
| Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
| Axdnd1 |
G |
A |
1: 156,208,428 (GRCm39) |
T470M |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Cdh3 |
A |
T |
8: 107,263,606 (GRCm39) |
|
probably null |
Het |
| Cep85l |
A |
T |
10: 53,167,906 (GRCm39) |
I624K |
probably benign |
Het |
| Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,406,292 (GRCm39) |
D2313E |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
| Exo1 |
C |
T |
1: 175,714,312 (GRCm39) |
P73L |
probably damaging |
Het |
| Fsbp |
G |
A |
4: 11,583,706 (GRCm39) |
G135D |
probably damaging |
Het |
| Herc3 |
G |
A |
6: 58,839,973 (GRCm39) |
R362H |
probably benign |
Het |
| Herc3 |
T |
C |
6: 58,853,587 (GRCm39) |
F583L |
probably benign |
Het |
| Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
| Ighv1-54 |
A |
G |
12: 115,157,596 (GRCm39) |
V17A |
possibly damaging |
Het |
| Kcnh5 |
A |
G |
12: 75,134,350 (GRCm39) |
Y400H |
possibly damaging |
Het |
| Kcnk16 |
T |
A |
14: 20,319,230 (GRCm39) |
M1L |
possibly damaging |
Het |
| Kctd19 |
T |
C |
8: 106,123,112 (GRCm39) |
T101A |
probably benign |
Het |
| Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
| Lonp1 |
T |
C |
17: 56,928,952 (GRCm39) |
E270G |
possibly damaging |
Het |
| Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,323,981 (GRCm39) |
Y1106C |
probably damaging |
Het |
| Mybpc1 |
G |
T |
10: 88,406,521 (GRCm39) |
|
probably null |
Het |
| Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
| Neurl1a |
T |
C |
19: 47,228,328 (GRCm39) |
L58P |
probably damaging |
Het |
| Nlrp4e |
G |
T |
7: 23,039,988 (GRCm39) |
L770F |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,115,857 (GRCm39) |
*895W |
probably null |
Het |
| Nphs2 |
T |
C |
1: 156,140,608 (GRCm39) |
I115T |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
| Or8g22 |
T |
A |
9: 38,958,707 (GRCm39) |
H47L |
unknown |
Het |
| Patj |
A |
T |
4: 98,569,456 (GRCm39) |
K1128* |
probably null |
Het |
| Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
| Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
| Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,812,851 (GRCm39) |
R123S |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
| Pum2 |
T |
A |
12: 8,769,076 (GRCm39) |
Y323* |
probably null |
Het |
| Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,113,579 (GRCm39) |
R313W |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,613,115 (GRCm39) |
D825V |
probably damaging |
Het |
| Selenoi |
A |
G |
5: 30,461,187 (GRCm39) |
Y141C |
probably damaging |
Het |
| Smcr8 |
A |
G |
11: 60,670,330 (GRCm39) |
T493A |
probably benign |
Het |
| Tjp2 |
A |
T |
19: 24,078,190 (GRCm39) |
I901N |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttc23l |
T |
A |
15: 10,530,781 (GRCm39) |
Y277F |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wdr1 |
C |
T |
5: 38,697,882 (GRCm39) |
G228R |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,669,053 (GRCm39) |
N31S |
probably damaging |
Het |
|
| Other mutations in Fgfrl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Fgfrl1
|
APN |
5 |
108,853,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00756:Fgfrl1
|
APN |
5 |
108,853,819 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02641:Fgfrl1
|
APN |
5 |
108,853,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0725:Fgfrl1
|
UTSW |
5 |
108,852,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1398:Fgfrl1
|
UTSW |
5 |
108,854,147 (GRCm39) |
unclassified |
probably benign |
|
|
R1967:Fgfrl1
|
UTSW |
5 |
108,852,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2403:Fgfrl1
|
UTSW |
5 |
108,852,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3032:Fgfrl1
|
UTSW |
5 |
108,853,926 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3605:Fgfrl1
|
UTSW |
5 |
108,853,289 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3606:Fgfrl1
|
UTSW |
5 |
108,853,289 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3607:Fgfrl1
|
UTSW |
5 |
108,853,289 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4603:Fgfrl1
|
UTSW |
5 |
108,851,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Fgfrl1
|
UTSW |
5 |
108,851,363 (GRCm39) |
nonsense |
probably null |
|
|
R5600:Fgfrl1
|
UTSW |
5 |
108,853,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Fgfrl1
|
UTSW |
5 |
108,853,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6679:Fgfrl1
|
UTSW |
5 |
108,852,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6679:Fgfrl1
|
UTSW |
5 |
108,852,838 (GRCm39) |
nonsense |
probably null |
|
|
R7247:Fgfrl1
|
UTSW |
5 |
108,851,365 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7608:Fgfrl1
|
UTSW |
5 |
108,853,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Fgfrl1
|
UTSW |
5 |
108,853,142 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8933:Fgfrl1
|
UTSW |
5 |
108,851,257 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9039:Fgfrl1
|
UTSW |
5 |
108,853,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9661:Fgfrl1
|
UTSW |
5 |
108,853,841 (GRCm39) |
missense |
probably benign |
|
|
X0018:Fgfrl1
|
UTSW |
5 |
108,852,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGTGCCTAAAACTGTGCTG -3'
(R):5'- ACACACCTGGTAATACAGTGAG -3'
Sequencing Primer
(F):5'- GTGCCTAAAACTGTGCTGACATG -3'
(R):5'- CACCTGGTAATACAGTGAGGAAGGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation