Incidental Mutation 'R7497:Fgfr3'
| ID |
581122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgfr3
|
| Ensembl Gene |
ENSMUSG00000054252 |
| Gene Name |
fibroblast growth factor receptor 3 |
| Synonyms |
sam3, Fgfr-3, HBGFR |
| MMRRC Submission |
045570-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.364)
|
| Stock # |
R7497 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
33879068-33894412 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GGACCTCTCCGTG to GG
at 33892766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005431]
[ENSMUST00000067150]
[ENSMUST00000087820]
[ENSMUST00000114411]
[ENSMUST00000164207]
[ENSMUST00000169212]
[ENSMUST00000171509]
[ENSMUST00000201295]
[ENSMUST00000202138]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005431
|
| SMART Domains |
Protein: ENSMUSP00000005431
Gene: ENSMUSG00000005299
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
135 |
N/A |
INTRINSIC |
|
Pfam:LETM1
|
152 |
417 |
1.2e-111 |
PFAM |
|
coiled coil region
|
445 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
513 |
N/A |
INTRINSIC |
|
coiled coil region
|
537 |
598 |
N/A |
INTRINSIC |
|
SCOP:d1c7va_
|
647 |
691 |
4e-3 |
SMART |
|
coiled coil region
|
708 |
738 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000067150
|
| SMART Domains |
Protein: ENSMUSP00000070998
Gene: ENSMUSG00000054252
| 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 null
Transcript: ENSMUST00000087820
|
| SMART Domains |
Protein: ENSMUSP00000085122
Gene: ENSMUSG00000054252
| 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 null
Transcript: ENSMUST00000114411
|
| SMART Domains |
Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252
| 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 null
Transcript: ENSMUST00000164207
|
| SMART Domains |
Protein: ENSMUSP00000133064
Gene: ENSMUSG00000054252
| 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 null
Transcript: ENSMUST00000169212
|
| SMART Domains |
Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252
| 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 null
Transcript: ENSMUST00000171509
|
| SMART Domains |
Protein: ENSMUSP00000131845
Gene: ENSMUSG00000054252
| 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 null
Transcript: ENSMUST00000202138
|
| SMART Domains |
Protein: ENSMUSP00000143945
Gene: ENSMUSG00000054252
| 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: ENSMUST00000202791
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (70/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
A |
15: 91,075,379 (GRCm39) |
I145F |
probably benign |
Het |
| Acvr2b |
T |
A |
9: 119,262,352 (GRCm39) |
V455E |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Agap2 |
T |
C |
10: 126,926,834 (GRCm39) |
V977A |
probably damaging |
Het |
| Aph1b |
A |
C |
9: 66,701,401 (GRCm39) |
S79A |
probably damaging |
Het |
| Atm |
G |
A |
9: 53,423,191 (GRCm39) |
S645L |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,400,456 (GRCm39) |
R171G |
probably benign |
Het |
| Ces2f |
T |
A |
8: 105,681,330 (GRCm39) |
D556E |
probably benign |
Het |
| Cfap210 |
A |
C |
2: 69,588,792 (GRCm39) |
N439K |
probably benign |
Het |
| Cyp26b1 |
C |
A |
6: 84,553,964 (GRCm39) |
V218L |
possibly damaging |
Het |
| Diaph1 |
T |
C |
18: 38,028,353 (GRCm39) |
|
probably null |
Het |
| Dock1 |
A |
G |
7: 134,367,003 (GRCm39) |
I482V |
probably benign |
Het |
| Dok4 |
A |
T |
8: 95,594,053 (GRCm39) |
D47E |
possibly damaging |
Het |
| Dqx1 |
T |
A |
6: 83,036,028 (GRCm39) |
L120Q |
probably damaging |
Het |
| Duxf3 |
A |
T |
10: 58,066,558 (GRCm39) |
V157E |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,653,516 (GRCm39) |
|
probably null |
Het |
| Eif2a |
C |
A |
3: 58,456,102 (GRCm39) |
P367Q |
probably damaging |
Het |
| Elp2 |
C |
T |
18: 24,744,985 (GRCm39) |
R102C |
probably damaging |
Het |
| Erich2 |
T |
C |
2: 70,364,666 (GRCm39) |
S347P |
probably damaging |
Het |
| Flacc1 |
T |
A |
1: 58,717,467 (GRCm39) |
D148V |
probably damaging |
Het |
| Gadl1 |
A |
T |
9: 115,903,155 (GRCm39) |
I495L |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,468 (GRCm39) |
T255A |
possibly damaging |
Het |
| Gm10972 |
A |
G |
3: 94,550,887 (GRCm39) |
K21E |
unknown |
Het |
| Gm57859 |
T |
A |
11: 113,583,223 (GRCm39) |
W517R |
probably damaging |
Het |
| Gm7361 |
C |
A |
5: 26,466,188 (GRCm39) |
H183Q |
probably benign |
Het |
| Gp2 |
C |
T |
7: 119,053,829 (GRCm39) |
C44Y |
probably damaging |
Het |
| Hcar2 |
C |
T |
5: 124,003,249 (GRCm39) |
V85I |
probably benign |
Het |
| Hira |
T |
C |
16: 18,770,829 (GRCm39) |
V822A |
probably damaging |
Het |
| Ighv1-5 |
T |
A |
12: 114,477,156 (GRCm39) |
T49S |
probably damaging |
Het |
| Ints1 |
C |
T |
5: 139,754,731 (GRCm39) |
V603M |
probably damaging |
Het |
| Kdm2a |
A |
C |
19: 4,374,404 (GRCm39) |
L909R |
probably damaging |
Het |
| Klkb1 |
T |
A |
8: 45,747,827 (GRCm39) |
|
probably benign |
Het |
| Krit1 |
A |
G |
5: 3,862,349 (GRCm39) |
H168R |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,654,340 (GRCm39) |
E386D |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,556,385 (GRCm39) |
E3303K |
unknown |
Het |
| Muc5b |
T |
G |
7: 141,415,250 (GRCm39) |
V2732G |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,104,983 (GRCm39) |
L189P |
|
Het |
| Nlrc5 |
T |
C |
8: 95,248,598 (GRCm39) |
L1740S |
probably damaging |
Het |
| Nolc1 |
A |
G |
19: 46,071,257 (GRCm39) |
K402R |
probably benign |
Het |
| Or4b1b |
T |
A |
2: 90,112,098 (GRCm39) |
T274S |
possibly damaging |
Het |
| Or4k15 |
T |
A |
14: 50,364,952 (GRCm39) |
L306Q |
probably benign |
Het |
| Or52s19 |
T |
C |
7: 103,008,219 (GRCm39) |
M61V |
probably damaging |
Het |
| Or8u8 |
T |
C |
2: 86,012,417 (GRCm39) |
I13V |
probably benign |
Het |
| Pnma8b |
A |
G |
7: 16,678,874 (GRCm39) |
|
probably benign |
Het |
| Pnpt1 |
A |
T |
11: 29,080,860 (GRCm39) |
M35L |
probably benign |
Het |
| Postn |
A |
G |
3: 54,270,091 (GRCm39) |
K57E |
probably damaging |
Het |
| Ppp1r9a |
A |
C |
6: 4,905,775 (GRCm39) |
D110A |
probably damaging |
Het |
| Pptc7 |
G |
A |
5: 122,422,942 (GRCm39) |
V71M |
possibly damaging |
Het |
| Prdm11 |
T |
A |
2: 92,843,052 (GRCm39) |
I136F |
possibly damaging |
Het |
| Rfc1 |
A |
G |
5: 65,436,841 (GRCm39) |
L613P |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,560,818 (GRCm39) |
D2981G |
probably benign |
Het |
| Sbf2 |
C |
A |
7: 110,213,923 (GRCm39) |
E16* |
probably null |
Het |
| Scara3 |
T |
C |
14: 66,168,651 (GRCm39) |
E322G |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,481,700 (GRCm39) |
C893S |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,249,139 (GRCm39) |
D323G |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 82,991,649 (GRCm39) |
Y453C |
probably damaging |
Het |
| Snx5 |
T |
C |
2: 144,099,894 (GRCm39) |
K137E |
probably damaging |
Het |
| Taar8c |
G |
A |
10: 23,977,116 (GRCm39) |
T232I |
probably benign |
Het |
| Taok2 |
G |
A |
7: 126,474,050 (GRCm39) |
T352I |
probably damaging |
Het |
| Ttc3 |
C |
A |
16: 94,219,541 (GRCm39) |
R489S |
possibly damaging |
Het |
| Usp12 |
A |
T |
5: 146,689,264 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
A |
16: 87,263,174 (GRCm39) |
C125* |
probably null |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,201 (GRCm39) |
E733K |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,876,843 (GRCm39) |
I2832K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,747,761 (GRCm39) |
Y18C |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,246,455 (GRCm39) |
I335K |
probably benign |
Het |
| Zfp788 |
A |
T |
7: 41,298,275 (GRCm39) |
I304F |
possibly damaging |
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 |
|
R7373:Fgfr3
|
UTSW |
5 |
33,885,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GCATCCTCACTGTGACATCAAC -3'
(R):5'- TAGGGTCCGCGTAAACATTG -3'
Sequencing Primer
(F):5'- GTAAGTGTCCCTCAGTCCTGC -3'
(R):5'- TCCGCGTAAACATTGCCTGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation