Incidental Mutation 'R4506:Fgfr3'
| ID |
332006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgfr3
|
| Ensembl Gene |
ENSMUSG00000054252 |
| Gene Name |
fibroblast growth factor receptor 3 |
| Synonyms |
sam3, Fgfr-3, HBGFR |
| MMRRC Submission |
041584-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.320)
|
| Stock # |
R4506 (G1)
|
| Quality Score |
173 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
33721674-33737068 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33729999 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 221
(T221A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067150]
[ENSMUST00000087820]
[ENSMUST00000114411]
[ENSMUST00000155002]
[ENSMUST00000164207]
[ENSMUST00000169212]
[ENSMUST00000171509]
[ENSMUST00000202138]
[ENSMUST00000201295]
[ENSMUST00000201437]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067150
AA Change: T221A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070998
Gene: ENSMUSG00000054252
AA Change: T221A
| 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 damaging
Transcript: ENSMUST00000087820
AA Change: T203A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000085122
Gene: ENSMUSG00000054252
AA Change: T203A
| 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 damaging
Transcript: ENSMUST00000114411
AA Change: T221A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252
AA Change: T221A
| 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 |
noncoding transcript
Transcript: ENSMUST00000132724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134610
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152661
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155002
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164207
AA Change: T221A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133064
Gene: ENSMUSG00000054252
AA Change: T221A
| 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 damaging
Transcript: ENSMUST00000169212
AA Change: T221A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252
AA Change: T221A
| 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 |
unknown
Transcript: ENSMUST00000181298
AA Change: T59A
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171509
AA Change: T221A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131845
Gene: ENSMUSG00000054252
AA Change: T221A
| 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 damaging
Transcript: ENSMUST00000202138
AA Change: T203A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143945
Gene: ENSMUSG00000054252
AA Change: T203A
| 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 |
unknown
Transcript: ENSMUST00000202182
AA Change: T214A
|
| 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 benign
Transcript: ENSMUST00000202791
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201437
|
| SMART Domains |
Protein: ENSMUSP00000144379
Gene: ENSMUSG00000054252
| 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 |
|
| Meta Mutation Damage Score |
0.9190 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (42/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,794,261 |
P137T |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,333,695 |
I1367N |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,976,666 |
L152Q |
probably damaging |
Het |
| Adam19 |
G |
A |
11: 46,118,444 |
D232N |
possibly damaging |
Het |
| Anapc4 |
A |
T |
5: 52,835,730 |
N61I |
possibly damaging |
Het |
| Ap5m1 |
T |
C |
14: 49,073,761 |
V96A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,865,237 |
C191S |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,499,476 |
|
probably benign |
Het |
| Cnot6l |
A |
T |
5: 96,086,174 |
V326E |
possibly damaging |
Het |
| Fcer2a |
A |
T |
8: 3,688,603 |
|
probably null |
Het |
| Gm6632 |
C |
T |
5: 59,054,478 |
|
noncoding transcript |
Het |
| Gm8909 |
A |
T |
17: 36,161,480 |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,826,999 |
M970K |
probably damaging |
Het |
| Ip6k3 |
A |
T |
17: 27,145,180 |
L298Q |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,432,686 |
D1727G |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 122,888,625 |
T589A |
possibly damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,246,256 |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,922,178 |
S752G |
probably benign |
Het |
| Mvb12a |
G |
T |
8: 71,543,459 |
A86S |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,748,883 |
|
probably benign |
Het |
| Olfr160 |
C |
T |
9: 37,711,464 |
V272I |
probably benign |
Het |
| Olfr393 |
A |
T |
11: 73,847,695 |
C143* |
probably null |
Het |
| Parp4 |
T |
A |
14: 56,652,304 |
N1847K |
unknown |
Het |
| Pcdhga8 |
G |
C |
18: 37,816,763 |
V411L |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,725,963 |
T352A |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,858,516 |
I223V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 |
V141M |
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 121,887,495 |
|
probably null |
Het |
| Slc7a9 |
A |
T |
7: 35,453,420 |
T88S |
probably damaging |
Het |
| Tbrg1 |
T |
A |
9: 37,654,395 |
E87V |
probably damaging |
Het |
| Tnfsf4 |
T |
C |
1: 161,417,174 |
S145P |
probably damaging |
Het |
| Tomm34 |
C |
A |
2: 164,054,372 |
|
probably null |
Het |
| Trpv3 |
A |
G |
11: 73,295,324 |
N647S |
probably benign |
Het |
| Upf1 |
G |
A |
8: 70,337,566 |
R637C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,702,925 |
Q35H |
probably damaging |
Het |
| Wdtc1 |
C |
T |
4: 133,308,819 |
V137M |
probably damaging |
Het |
| Zfp276 |
G |
A |
8: 123,264,927 |
|
probably null |
Het |
| Zfp90 |
C |
T |
8: 106,424,864 |
P403L |
possibly damaging |
Het |
|
| Other mutations in Fgfr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00705:Fgfr3
|
APN |
5 |
33735140 |
missense |
possibly damaging |
0.57 |
|
IGL01585:Fgfr3
|
APN |
5 |
33733961 |
missense |
probably damaging |
0.96 |
|
IGL03266:Fgfr3
|
APN |
5 |
33734365 |
missense |
probably damaging |
1.00 |
|
IGL03285:Fgfr3
|
APN |
5 |
33735213 |
missense |
probably damaging |
1.00 |
|
PIT4280001:Fgfr3
|
UTSW |
5 |
33732232 |
missense |
probably benign |
0.13 |
|
R0543:Fgfr3
|
UTSW |
5 |
33729710 |
start codon destroyed |
probably null |
0.00 |
|
R0604:Fgfr3
|
UTSW |
5 |
33732782 |
missense |
probably damaging |
0.99 |
|
R1496:Fgfr3
|
UTSW |
5 |
33729750 |
missense |
probably damaging |
0.96 |
|
R1861:Fgfr3
|
UTSW |
5 |
33729746 |
missense |
probably damaging |
1.00 |
|
R2919:Fgfr3
|
UTSW |
5 |
33733940 |
missense |
probably damaging |
1.00 |
|
R2920:Fgfr3
|
UTSW |
5 |
33733940 |
missense |
probably damaging |
1.00 |
|
R4361:Fgfr3
|
UTSW |
5 |
33723332 |
intron |
probably benign |
|
|
R4513:Fgfr3
|
UTSW |
5 |
33723116 |
intron |
probably benign |
|
|
R4647:Fgfr3
|
UTSW |
5 |
33734986 |
unclassified |
probably benign |
|
|
R5240:Fgfr3
|
UTSW |
5 |
33730038 |
missense |
probably damaging |
1.00 |
|
R5251:Fgfr3
|
UTSW |
5 |
33735556 |
unclassified |
probably benign |
|
|
R5454:Fgfr3
|
UTSW |
5 |
33723298 |
intron |
probably benign |
|
|
R5595:Fgfr3
|
UTSW |
5 |
33730003 |
missense |
probably damaging |
1.00 |
|
R5984:Fgfr3
|
UTSW |
5 |
33729705 |
missense |
probably damaging |
1.00 |
|
R6753:Fgfr3
|
UTSW |
5 |
33732159 |
missense |
probably benign |
0.35 |
|
R6985:Fgfr3
|
UTSW |
5 |
33735441 |
missense |
probably null |
1.00 |
|
R7106:Fgfr3
|
UTSW |
5 |
33731414 |
missense |
probably damaging |
1.00 |
|
R7221:Fgfr3
|
UTSW |
5 |
33732748 |
frame shift |
probably null |
|
|
R7319:Fgfr3
|
UTSW |
5 |
33727802 |
missense |
possibly damaging |
0.88 |
|
R7373:Fgfr3
|
UTSW |
5 |
33727690 |
missense |
probably benign |
0.00 |
|
R7497:Fgfr3
|
UTSW |
5 |
33735422 |
frame shift |
probably null |
|
|
R7498:Fgfr3
|
UTSW |
5 |
33735422 |
frame shift |
probably null |
|
|
R7499:Fgfr3
|
UTSW |
5 |
33735422 |
frame shift |
probably null |
|
|
R7883:Fgfr3
|
UTSW |
5 |
33733891 |
missense |
probably damaging |
1.00 |
|
R8129:Fgfr3
|
UTSW |
5 |
33733906 |
missense |
probably damaging |
0.98 |
|
R8179:Fgfr3
|
UTSW |
5 |
33727755 |
missense |
probably benign |
0.00 |
|
R8422:Fgfr3
|
UTSW |
5 |
33734905 |
nonsense |
probably null |
|
|
R8935:Fgfr3
|
UTSW |
5 |
33735466 |
missense |
probably damaging |
1.00 |
|
R9179:Fgfr3
|
UTSW |
5 |
33729972 |
missense |
possibly damaging |
0.78 |
|
R9368:Fgfr3
|
UTSW |
5 |
33727872 |
missense |
probably benign |
|
|
R9414:Fgfr3
|
UTSW |
5 |
33729954 |
missense |
possibly damaging |
0.81 |
|
R9689:Fgfr3
|
UTSW |
5 |
33734904 |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATTCCGAGGGGAGCATC -3'
(R):5'- CCACGTCACTGCCTAGAATG -3'
Sequencing Primer
(F):5'- CATCGCATTGGGGGCATCAAG -3'
(R):5'- CCTAGAATGGCTGTCTGGTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation