Incidental Mutation 'R2920:Fgfr3'
| ID |
255459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgfr3
|
| Ensembl Gene |
ENSMUSG00000054252 |
| Gene Name |
fibroblast growth factor receptor 3 |
| Synonyms |
sam3, Fgfr-3, HBGFR |
| MMRRC Submission |
040505-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.418)
|
| Stock # |
R2920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
33721674-33737068 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33733940 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 516
(N516S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067150]
[ENSMUST00000087820]
[ENSMUST00000114411]
[ENSMUST00000155002]
[ENSMUST00000164207]
[ENSMUST00000169212]
[ENSMUST00000171509]
[ENSMUST00000202138]
[ENSMUST00000201437]
[ENSMUST00000201295]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067150
AA Change: N534S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070998
Gene: ENSMUSG00000054252
AA Change: N534S
| 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: N516S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085122
Gene: ENSMUSG00000054252
AA Change: N516S
| 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: N536S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252
AA Change: N536S
| 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: N535S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133064
Gene: ENSMUSG00000054252
AA Change: N535S
| 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: N534S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252
AA Change: N534S
| 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: ENSMUST00000171509
AA Change: N536S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131845
Gene: ENSMUSG00000054252
AA Change: N536S
| 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 damaging
Transcript: ENSMUST00000202138
AA Change: N516S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143945
Gene: ENSMUSG00000054252
AA Change: N516S
| 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: ENSMUST00000202791
AA Change: N119S
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202182
|
| 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 |
|
| Meta Mutation Damage Score |
0.8472 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
96% (48/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
G |
10: 10,390,243 |
Y1025H |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,448,865 |
A4122T |
probably benign |
Het |
| Aloxe3 |
C |
T |
11: 69,142,923 |
T621I |
probably damaging |
Het |
| Atp2b3 |
A |
C |
X: 73,533,920 |
T318P |
probably benign |
Het |
| Atrx |
A |
T |
X: 105,830,868 |
V1962D |
probably benign |
Het |
| Chl1 |
C |
A |
6: 103,695,343 |
T531K |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,837,853 |
D405V |
probably benign |
Het |
| Clca3b |
C |
T |
3: 144,846,931 |
D115N |
probably benign |
Het |
| Comtd1 |
A |
G |
14: 21,847,618 |
L149P |
possibly damaging |
Het |
| Cops7a |
A |
G |
6: 124,962,362 |
V108A |
probably benign |
Het |
| Crebbp |
A |
G |
16: 4,119,082 |
V343A |
probably damaging |
Het |
| Edrf1 |
T |
A |
7: 133,667,572 |
D1109E |
probably benign |
Het |
| Elmo3 |
A |
G |
8: 105,308,059 |
E359G |
possibly damaging |
Het |
| Ep400 |
C |
A |
5: 110,755,914 |
G273V |
probably damaging |
Het |
| Glb1l |
T |
A |
1: 75,209,190 |
E31D |
probably benign |
Het |
| Gm10093 |
A |
G |
17: 78,492,846 |
D422G |
probably damaging |
Het |
| Il12rb2 |
C |
T |
6: 67,360,568 |
V110I |
probably damaging |
Het |
| Ints3 |
T |
C |
3: 90,393,162 |
E884G |
probably benign |
Het |
| Lin7b |
A |
G |
7: 45,368,397 |
V170A |
possibly damaging |
Het |
| Lrch2 |
A |
T |
X: 147,473,030 |
V750E |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,338,247 |
R418C |
probably damaging |
Het |
| Mettl25 |
A |
T |
10: 105,765,177 |
|
probably null |
Het |
| Mphosph9 |
G |
A |
5: 124,261,006 |
T982I |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,742,934 |
V128M |
probably damaging |
Het |
| Myo10 |
G |
T |
15: 25,801,140 |
V1472L |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,325,857 |
K445R |
probably damaging |
Het |
| Ntng2 |
T |
C |
2: 29,204,211 |
M383V |
probably benign |
Het |
| Olfr1353 |
A |
C |
10: 78,970,012 |
D121A |
probably damaging |
Het |
| Olfr30 |
T |
C |
11: 58,455,577 |
Y124C |
probably damaging |
Het |
| Olfr702 |
C |
T |
7: 106,824,364 |
R54Q |
probably benign |
Het |
| Pak6 |
A |
T |
2: 118,694,007 |
|
probably benign |
Het |
| Pcdh8 |
G |
T |
14: 79,768,714 |
P803Q |
possibly damaging |
Het |
| Pfkfb3 |
C |
T |
2: 11,484,327 |
V286I |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,956,018 |
T641M |
probably damaging |
Het |
| Rint1 |
A |
G |
5: 23,805,402 |
E203G |
probably benign |
Het |
| Sdf2 |
G |
C |
11: 78,254,854 |
V126L |
probably damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,247,791 |
E442G |
possibly damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,158,297 |
S669* |
probably null |
Het |
| Slc38a7 |
A |
G |
8: 95,845,943 |
I157T |
possibly damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,264,387 |
L215P |
probably damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,210,469 |
V60A |
probably benign |
Het |
| Tcerg1l |
T |
C |
7: 138,248,379 |
R422G |
probably damaging |
Het |
| Tmem107 |
T |
C |
11: 69,071,421 |
L68P |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,125,407 |
F467L |
possibly damaging |
Het |
| Vmn1r19 |
A |
T |
6: 57,404,924 |
N154I |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,411,765 |
I204L |
probably benign |
Het |
| Zbtb1 |
T |
A |
12: 76,385,845 |
S202T |
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 |
|
R4361:Fgfr3
|
UTSW |
5 |
33723332 |
intron |
probably benign |
|
|
R4506:Fgfr3
|
UTSW |
5 |
33729999 |
missense |
probably damaging |
1.00 |
|
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'- CATCGACAAGGACCGTACTG -3'
(R):5'- TCAAAGGAGTAGTCCATGCCTG -3'
Sequencing Primer
(F):5'- GTACTGCCAAGCCTGTCAC -3'
(R):5'- AAGCACAGGCACCTTAGA -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation