Incidental Mutation 'R8422:Fgfr3'
| ID |
653247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgfr3
|
| Ensembl Gene |
ENSMUSG00000054252 |
| Gene Name |
fibroblast growth factor receptor 3 |
| Synonyms |
sam3, Fgfr-3, HBGFR |
| MMRRC Submission |
067817-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.364)
|
| Stock # |
R8422 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
33879068-33894412 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 33892249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 689
(Y689*)
|
| 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
AA Change: Y689*
|
| SMART Domains |
Protein: ENSMUSP00000070998
Gene: ENSMUSG00000054252
AA Change: Y689*
| 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
AA Change: Y671*
|
| SMART Domains |
Protein: ENSMUSP00000085122
Gene: ENSMUSG00000054252
AA Change: Y671*
| 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
AA Change: Y691*
|
| SMART Domains |
Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252
AA Change: Y691*
| 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
AA Change: Y690*
|
| SMART Domains |
Protein: ENSMUSP00000133064
Gene: ENSMUSG00000054252
AA Change: Y690*
| 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
AA Change: Y689*
|
| SMART Domains |
Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252
AA Change: Y689*
| 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
AA Change: Y691*
|
| SMART Domains |
Protein: ENSMUSP00000131845
Gene: ENSMUSG00000054252
AA Change: Y691*
| 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
AA Change: Y671*
|
| SMART Domains |
Protein: ENSMUSP00000143945
Gene: ENSMUSG00000054252
AA Change: Y671*
| 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: ENSMUST00000202182
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202791
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
T |
14: 32,384,254 (GRCm39) |
S570R |
possibly damaging |
Het |
| 4921517D22Rik |
T |
C |
13: 59,839,443 (GRCm39) |
M1V |
probably null |
Het |
| 4921524J17Rik |
T |
G |
8: 86,138,918 (GRCm39) |
K57T |
possibly damaging |
Het |
| 4930596D02Rik |
G |
T |
14: 35,532,009 (GRCm39) |
Q189K |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,517,757 (GRCm39) |
T296A |
probably benign |
Het |
| Aqp7 |
T |
A |
4: 41,035,622 (GRCm39) |
M78L |
probably benign |
Het |
| C1qtnf5 |
C |
A |
9: 44,019,961 (GRCm39) |
A195E |
possibly damaging |
Het |
| Calhm2 |
T |
C |
19: 47,121,579 (GRCm39) |
I197V |
probably benign |
Het |
| Ccdc186 |
G |
A |
19: 56,801,617 (GRCm39) |
L167F |
probably benign |
Het |
| Ccr3 |
T |
C |
9: 123,828,799 (GRCm39) |
Y45H |
probably damaging |
Het |
| Cct3 |
G |
C |
3: 88,208,126 (GRCm39) |
R38P |
probably damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,239 (GRCm39) |
D711G |
probably benign |
Het |
| Dab2ip |
T |
A |
2: 35,597,767 (GRCm39) |
I157N |
probably damaging |
Het |
| Dchs2 |
T |
C |
3: 83,232,570 (GRCm39) |
V2185A |
probably benign |
Het |
| Dis3l2 |
A |
G |
1: 86,782,099 (GRCm39) |
T219A |
probably benign |
Het |
| F2rl3 |
G |
T |
8: 73,489,813 (GRCm39) |
V347L |
probably benign |
Het |
| Fastkd1 |
A |
G |
2: 69,532,778 (GRCm39) |
S530P |
probably damaging |
Het |
| Gm10521 |
A |
G |
1: 171,724,026 (GRCm39) |
I112M |
unknown |
Het |
| Gm9736 |
C |
A |
10: 77,586,714 (GRCm39) |
V159F |
unknown |
Het |
| Hba-x |
A |
T |
11: 32,227,736 (GRCm39) |
H88L |
probably benign |
Het |
| Il12rb2 |
A |
T |
6: 67,337,800 (GRCm39) |
V27E |
probably benign |
Het |
| Imp4 |
G |
T |
1: 34,482,997 (GRCm39) |
G196V |
probably damaging |
Het |
| Itga11 |
A |
C |
9: 62,674,960 (GRCm39) |
I831L |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,303,279 (GRCm39) |
V408I |
possibly damaging |
Het |
| Nedd4 |
T |
A |
9: 72,649,964 (GRCm39) |
D771E |
probably damaging |
Het |
| Noc3l |
T |
C |
19: 38,795,547 (GRCm39) |
Y413C |
probably benign |
Het |
| Npas3 |
C |
A |
12: 54,115,292 (GRCm39) |
T738K |
probably benign |
Het |
| Ntrk2 |
A |
T |
13: 59,133,715 (GRCm39) |
D498V |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,734,083 (GRCm39) |
T317A |
probably benign |
Het |
| Or10g7 |
T |
C |
9: 39,905,850 (GRCm39) |
L248P |
probably damaging |
Het |
| Or14a256 |
T |
A |
7: 86,265,466 (GRCm39) |
H129L |
probably benign |
Het |
| Or4c107 |
T |
C |
2: 88,789,341 (GRCm39) |
M177T |
probably benign |
Het |
| Or5d47 |
T |
A |
2: 87,804,143 (GRCm39) |
I289L |
probably benign |
Het |
| Pcdhb20 |
A |
T |
18: 37,637,849 (GRCm39) |
D125V |
probably damaging |
Het |
| Phc3 |
G |
A |
3: 30,984,039 (GRCm39) |
Q692* |
probably null |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Ppp1r12a |
T |
A |
10: 108,077,042 (GRCm39) |
H339Q |
probably benign |
Het |
| Ppp1r3a |
G |
A |
6: 14,718,434 (GRCm39) |
Q827* |
probably null |
Het |
| Ptpra |
T |
A |
2: 130,374,091 (GRCm39) |
I265N |
possibly damaging |
Het |
| Rabggta |
G |
T |
14: 55,955,915 (GRCm39) |
H447Q |
probably benign |
Het |
| Ralgps1 |
T |
C |
2: 33,062,442 (GRCm39) |
D277G |
possibly damaging |
Het |
| Riok3 |
A |
T |
18: 12,269,869 (GRCm39) |
E100V |
probably null |
Het |
| Rtcb |
C |
T |
10: 85,779,168 (GRCm39) |
V362M |
probably benign |
Het |
| Scd2 |
G |
T |
19: 44,289,743 (GRCm39) |
C246F |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,053,508 (GRCm39) |
E131G |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,726,014 (GRCm39) |
M393V |
probably benign |
Het |
| Tas2r136 |
A |
T |
6: 132,754,290 (GRCm39) |
I279N |
probably damaging |
Het |
| Tbx3 |
G |
T |
5: 119,818,581 (GRCm39) |
K405N |
possibly damaging |
Het |
| Thumpd2 |
A |
T |
17: 81,334,373 (GRCm39) |
V405D |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,510,427 (GRCm39) |
S608P |
probably damaging |
Het |
| Wfs1 |
T |
C |
5: 37,131,219 (GRCm39) |
K165E |
probably benign |
Het |
| Zfp810 |
C |
A |
9: 22,194,518 (GRCm39) |
E57* |
probably null |
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 |
|
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 |
|
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'- TTTTGCAGTCTTCAGGGTCC -3'
(R):5'- GCGGCAAGTATAGCTATGGC -3'
Sequencing Primer
(F):5'- AGTCTTCAGGGTCCTGGTCC -3'
(R):5'- GCTCCCTGGCCTCCTGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation