Incidental Mutation 'R7373:Fgfr3'
| ID |
572209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgfr3
|
| Ensembl Gene |
ENSMUSG00000054252 |
| Gene Name |
fibroblast growth factor receptor 3 |
| Synonyms |
sam3, Fgfr-3, HBGFR |
| MMRRC Submission |
045456-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R7373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
33879068-33894412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 33885034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 49
(F49L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067150]
[ENSMUST00000087820]
[ENSMUST00000114411]
[ENSMUST00000155002]
[ENSMUST00000164207]
[ENSMUST00000169212]
[ENSMUST00000171509]
[ENSMUST00000201295]
[ENSMUST00000201437]
[ENSMUST00000202138]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067150
AA Change: F49L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000070998
Gene: ENSMUSG00000054252
AA Change: F49L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
|
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
|
IGc2
|
161 |
229 |
1.2e-15 |
SMART |
|
IGc2
|
260 |
340 |
3.28e-8 |
SMART |
|
transmembrane domain
|
367 |
389 |
N/A |
INTRINSIC |
|
TyrKc
|
466 |
742 |
3.14e-153 |
SMART |
|
low complexity region
|
765 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
798 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087820
AA Change: F49L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000085122
Gene: ENSMUSG00000054252
AA Change: F49L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
|
IGc2
|
143 |
211 |
1.2e-15 |
SMART |
|
IGc2
|
242 |
322 |
3.28e-8 |
SMART |
|
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
|
TyrKc
|
448 |
724 |
3.14e-153 |
SMART |
|
low complexity region
|
747 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
780 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114411
AA Change: F49L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252
AA Change: F49L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
|
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
|
IGc2
|
161 |
229 |
1.2e-15 |
SMART |
|
IGc2
|
260 |
339 |
2.77e-6 |
SMART |
|
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
TyrKc
|
468 |
744 |
3.14e-153 |
SMART |
|
low complexity region
|
767 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
800 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155002
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164207
AA Change: F49L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000133064
Gene: ENSMUSG00000054252
AA Change: F49L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
|
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
|
IGc2
|
161 |
229 |
1.2e-15 |
SMART |
|
IGc2
|
260 |
340 |
3.28e-8 |
SMART |
|
transmembrane domain
|
367 |
389 |
N/A |
INTRINSIC |
|
TyrKc
|
467 |
743 |
3.14e-153 |
SMART |
|
low complexity region
|
766 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
790 |
799 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169212
AA Change: F49L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252
AA Change: F49L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
|
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
|
IGc2
|
161 |
229 |
1.2e-15 |
SMART |
|
IGc2
|
260 |
340 |
3.28e-8 |
SMART |
|
transmembrane domain
|
367 |
389 |
N/A |
INTRINSIC |
|
TyrKc
|
466 |
742 |
3.14e-153 |
SMART |
|
low complexity region
|
765 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
798 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171509
AA Change: F49L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131845
Gene: ENSMUSG00000054252
AA Change: F49L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
|
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
|
IGc2
|
161 |
229 |
1.2e-15 |
SMART |
|
IGc2
|
260 |
339 |
2.77e-6 |
SMART |
|
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
TyrKc
|
468 |
744 |
3.14e-153 |
SMART |
|
low complexity region
|
767 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
800 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201295
|
| SMART Domains |
Protein: ENSMUSP00000144104
Gene: ENSMUSG00000054252
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
11 |
71 |
1.9e-3 |
SMART |
|
transmembrane domain
|
90 |
112 |
N/A |
INTRINSIC |
|
PDB:2PSQ|B
|
126 |
223 |
2e-30 |
PDB |
|
Blast:IG_like
|
140 |
223 |
2e-51 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201437
AA Change: F49L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144379
Gene: ENSMUSG00000054252
AA Change: F49L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
50 |
114 |
2e-6 |
SMART |
|
Pfam:Ig_3
|
144 |
194 |
2.1e-3 |
PFAM |
|
Pfam:I-set
|
153 |
194 |
9.2e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202138
AA Change: F49L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143945
Gene: ENSMUSG00000054252
AA Change: F49L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
|
IGc2
|
143 |
211 |
1.2e-15 |
SMART |
|
IGc2
|
242 |
322 |
3.28e-8 |
SMART |
|
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
|
TyrKc
|
448 |
724 |
3.14e-153 |
SMART |
|
low complexity region
|
747 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
780 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the fibroblast growth factor receptor family. Members of this family are highly conserved proteins that differ from one another in their ligand affinities and tissue distribution. A representative protein consists 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. This family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene may be associated with craniosynostosis and multiple types of skeletal dysplasia. A pseudogene of this gene is located on chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]
PHENOTYPE: Mutant alleles generally cause skeletal deformities, with some causing decreased body size, premature death, or hearing loss due to developmental defects of the ear. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
G |
A |
11: 50,686,262 (GRCm39) |
A1027T |
probably benign |
Het |
| Aldh7a1 |
G |
A |
18: 56,675,389 (GRCm39) |
T260M |
possibly damaging |
Het |
| Anks3 |
T |
C |
16: 4,773,735 (GRCm39) |
Y187C |
probably benign |
Het |
| Atp2c2 |
A |
T |
8: 120,456,991 (GRCm39) |
I198F |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,990,683 (GRCm39) |
T1690A |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,955,945 (GRCm39) |
I350T |
possibly damaging |
Het |
| Cdcp1 |
C |
T |
9: 123,006,965 (GRCm39) |
R594H |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cldn1 |
G |
T |
16: 26,179,606 (GRCm39) |
P154T |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,508,367 (GRCm39) |
N1293I |
probably benign |
Het |
| Cpsf4l |
C |
T |
11: 113,590,657 (GRCm39) |
|
probably null |
Het |
| Crybg1 |
T |
C |
10: 43,880,136 (GRCm39) |
T351A |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,042,713 (GRCm39) |
N2340S |
probably damaging |
Het |
| Dennd4a |
C |
A |
9: 64,804,551 (GRCm39) |
Q1297K |
probably benign |
Het |
| Dll3 |
A |
G |
7: 27,994,057 (GRCm39) |
V460A |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,986,939 (GRCm39) |
|
probably null |
Het |
| Dst |
G |
T |
1: 34,227,472 (GRCm39) |
L1688F |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,809,585 (GRCm39) |
M1T |
probably null |
Het |
| Fasn |
A |
T |
11: 120,704,802 (GRCm39) |
L1261Q |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,702 (GRCm39) |
D2916G |
probably damaging |
Het |
| Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
| Hormad1 |
A |
T |
3: 95,483,628 (GRCm39) |
T147S |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
| Itgb8 |
A |
G |
12: 119,166,210 (GRCm39) |
V107A |
probably benign |
Het |
| Kat2a |
C |
T |
11: 100,599,392 (GRCm39) |
A533T |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,913,071 (GRCm39) |
L328P |
probably damaging |
Het |
| Lims1 |
T |
C |
10: 58,245,442 (GRCm39) |
F157S |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,331,036 (GRCm39) |
H1673Q |
probably damaging |
Het |
| Lrrc46 |
C |
A |
11: 96,929,706 (GRCm39) |
M43I |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,584,207 (GRCm39) |
|
probably null |
Het |
| Meox2 |
A |
T |
12: 37,158,797 (GRCm39) |
|
probably benign |
Het |
| Mff |
A |
G |
1: 82,714,838 (GRCm39) |
|
probably null |
Het |
| Mfsd5 |
T |
A |
15: 102,189,427 (GRCm39) |
F266L |
probably damaging |
Het |
| Miga2 |
A |
G |
2: 30,272,083 (GRCm39) |
T468A |
probably damaging |
Het |
| Mmel1 |
T |
A |
4: 154,973,665 (GRCm39) |
L316Q |
not run |
Het |
| Ndufa9 |
C |
A |
6: 126,811,421 (GRCm39) |
G232C |
probably damaging |
Het |
| Obox2 |
A |
T |
7: 15,131,145 (GRCm39) |
K84* |
probably null |
Het |
| Or4f58 |
T |
A |
2: 111,851,787 (GRCm39) |
R137S |
probably benign |
Het |
| Or51a39 |
T |
A |
7: 102,363,306 (GRCm39) |
I105F |
possibly damaging |
Het |
| Otogl |
G |
T |
10: 107,737,112 (GRCm39) |
Q101K |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,534,766 (GRCm39) |
V1288M |
probably damaging |
Het |
| Pde10a |
T |
A |
17: 9,161,824 (GRCm39) |
W220R |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,819,198 (GRCm39) |
T123A |
possibly damaging |
Het |
| Rpl28 |
T |
C |
7: 4,796,602 (GRCm39) |
V61A |
probably benign |
Het |
| Secisbp2l |
A |
T |
2: 125,599,191 (GRCm39) |
M494K |
probably damaging |
Het |
| Sh3bgr |
G |
A |
16: 96,007,035 (GRCm39) |
E2K |
unknown |
Het |
| Shcbp1l |
C |
A |
1: 153,300,986 (GRCm39) |
T6K |
probably benign |
Het |
| Slc22a15 |
A |
C |
3: 101,785,213 (GRCm39) |
L353R |
possibly damaging |
Het |
| Sqle |
T |
C |
15: 59,189,658 (GRCm39) |
I100T |
probably benign |
Het |
| Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,504,391 (GRCm39) |
N668K |
probably damaging |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,676 (GRCm39) |
S118P |
probably benign |
Het |
| Tmco5 |
G |
T |
2: 116,717,226 (GRCm39) |
V169L |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,131,499 (GRCm39) |
K346E |
probably damaging |
Het |
| Ttk |
G |
A |
9: 83,736,930 (GRCm39) |
R463H |
probably benign |
Het |
| Vmn2r120 |
G |
T |
17: 57,816,406 (GRCm39) |
L650I |
probably benign |
Het |
| Vmn2r58 |
C |
T |
7: 41,487,212 (GRCm39) |
C561Y |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,044,948 (GRCm39) |
Q455L |
probably benign |
Het |
| Zfr |
T |
A |
15: 12,140,645 (GRCm39) |
S231T |
unknown |
Het |
|
| Other mutations in Fgfr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00705:Fgfr3
|
APN |
5 |
33,892,484 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01585:Fgfr3
|
APN |
5 |
33,891,305 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03266:Fgfr3
|
APN |
5 |
33,891,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03285:Fgfr3
|
APN |
5 |
33,892,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4280001:Fgfr3
|
UTSW |
5 |
33,889,576 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0543:Fgfr3
|
UTSW |
5 |
33,887,054 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R0604:Fgfr3
|
UTSW |
5 |
33,890,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1496:Fgfr3
|
UTSW |
5 |
33,887,094 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1861:Fgfr3
|
UTSW |
5 |
33,887,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Fgfr3
|
UTSW |
5 |
33,891,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2920:Fgfr3
|
UTSW |
5 |
33,891,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4361:Fgfr3
|
UTSW |
5 |
33,880,676 (GRCm39) |
intron |
probably benign |
|
|
R4506:Fgfr3
|
UTSW |
5 |
33,887,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4513:Fgfr3
|
UTSW |
5 |
33,880,460 (GRCm39) |
intron |
probably benign |
|
|
R4647:Fgfr3
|
UTSW |
5 |
33,892,330 (GRCm39) |
unclassified |
probably benign |
|
|
R5240:Fgfr3
|
UTSW |
5 |
33,887,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5251:Fgfr3
|
UTSW |
5 |
33,892,900 (GRCm39) |
unclassified |
probably benign |
|
|
R5454:Fgfr3
|
UTSW |
5 |
33,880,642 (GRCm39) |
intron |
probably benign |
|
|
R5595:Fgfr3
|
UTSW |
5 |
33,887,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5984:Fgfr3
|
UTSW |
5 |
33,887,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Fgfr3
|
UTSW |
5 |
33,889,503 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6985:Fgfr3
|
UTSW |
5 |
33,892,785 (GRCm39) |
missense |
probably null |
1.00 |
|
R7106:Fgfr3
|
UTSW |
5 |
33,888,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7221:Fgfr3
|
UTSW |
5 |
33,890,092 (GRCm39) |
frame shift |
probably null |
|
|
R7319:Fgfr3
|
UTSW |
5 |
33,885,146 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7497:Fgfr3
|
UTSW |
5 |
33,892,766 (GRCm39) |
frame shift |
probably null |
|
|
R7498:Fgfr3
|
UTSW |
5 |
33,892,766 (GRCm39) |
frame shift |
probably null |
|
|
R7499:Fgfr3
|
UTSW |
5 |
33,892,766 (GRCm39) |
frame shift |
probably null |
|
|
R7883:Fgfr3
|
UTSW |
5 |
33,891,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8129:Fgfr3
|
UTSW |
5 |
33,891,250 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8179:Fgfr3
|
UTSW |
5 |
33,885,099 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8422:Fgfr3
|
UTSW |
5 |
33,892,249 (GRCm39) |
nonsense |
probably null |
|
|
R8935:Fgfr3
|
UTSW |
5 |
33,892,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Fgfr3
|
UTSW |
5 |
33,887,316 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9368:Fgfr3
|
UTSW |
5 |
33,885,216 (GRCm39) |
missense |
probably benign |
|
|
R9414:Fgfr3
|
UTSW |
5 |
33,887,298 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9689:Fgfr3
|
UTSW |
5 |
33,892,248 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGCTCTTACGAAAACAGTTTTC -3'
(R):5'- TGTAGACCCCTGCATCTTCG -3'
Sequencing Primer
(F):5'- TGAACATTGTCTGGCAGGCC -3'
(R):5'- CATCTTCGTGGGAGGCATTTAGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation