Incidental Mutation 'R2386:Fgfr4'
| ID |
247710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgfr4
|
| Ensembl Gene |
ENSMUSG00000005320 |
| Gene Name |
fibroblast growth factor receptor 4 |
| Synonyms |
Fgfr-4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2386 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55300631-55316572 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55315714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 747
(V747A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005452]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005452
AA Change: V747A
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000005452
Gene: ENSMUSG00000005320
AA Change: V747A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
IGc2
|
45 |
105 |
1.39e-11 |
SMART |
|
IGc2
|
160 |
228 |
3.1e-18 |
SMART |
|
IGc2
|
259 |
337 |
1.59e-6 |
SMART |
|
low complexity region
|
369 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
446 |
N/A |
INTRINSIC |
|
TyrKc
|
464 |
740 |
1.67e-148 |
SMART |
|
low complexity region
|
764 |
795 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist 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. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted mutation are viable, healthy and overtly normal, except for a 10% weight reduction at weaning. Mice doubly homozygous for disruptions of Fgfr3 and Fgfr4 show novel phenotypes not seen in either single mutant, including dwarfismand defective respiratory alveogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,328,575 (GRCm39) |
D2G |
probably damaging |
Het |
| Btnl9 |
A |
G |
11: 49,069,602 (GRCm39) |
S226P |
probably damaging |
Het |
| Canx |
A |
T |
11: 50,187,933 (GRCm39) |
D558E |
probably benign |
Het |
| Cd248 |
G |
T |
19: 5,119,221 (GRCm39) |
M356I |
possibly damaging |
Het |
| Col1a1 |
A |
T |
11: 94,841,217 (GRCm39) |
D1200V |
unknown |
Het |
| Dgat2 |
A |
C |
7: 98,806,300 (GRCm39) |
V299G |
possibly damaging |
Het |
| Ercc6 |
G |
A |
14: 32,263,316 (GRCm39) |
|
probably null |
Het |
| Ftcd |
A |
C |
10: 76,417,211 (GRCm39) |
D240A |
probably damaging |
Het |
| Hs3st3b1 |
C |
A |
11: 63,780,039 (GRCm39) |
E363* |
probably null |
Het |
| Ikbke |
A |
G |
1: 131,187,003 (GRCm39) |
L563P |
probably damaging |
Het |
| Lbhd2 |
A |
T |
12: 111,376,741 (GRCm39) |
T63S |
possibly damaging |
Het |
| Mterf1a |
A |
T |
5: 3,941,225 (GRCm39) |
D214E |
probably benign |
Het |
| Or5p53 |
A |
G |
7: 107,533,480 (GRCm39) |
Y251C |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,815,261 (GRCm39) |
E4511G |
unknown |
Het |
| Pigs |
A |
G |
11: 78,223,812 (GRCm39) |
Y108C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,391,574 (GRCm39) |
T1547A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Rad54b |
T |
A |
4: 11,597,874 (GRCm39) |
M253K |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,859,723 (GRCm39) |
D1080G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,196,740 (GRCm39) |
Y298H |
probably damaging |
Het |
| Tdrd9 |
A |
T |
12: 111,982,334 (GRCm39) |
D475V |
probably damaging |
Het |
| Tmem131 |
G |
A |
1: 36,868,716 (GRCm39) |
H370Y |
probably benign |
Het |
|
| Other mutations in Fgfr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Fgfr4
|
APN |
13 |
55,306,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02140:Fgfr4
|
APN |
13 |
55,308,992 (GRCm39) |
missense |
probably benign |
|
|
IGL02817:Fgfr4
|
APN |
13 |
55,304,481 (GRCm39) |
critical splice donor site |
probably null |
|
|
interference
|
UTSW |
13 |
55,313,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Modest
|
UTSW |
13 |
55,314,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
offense
|
UTSW |
13 |
55,309,328 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0153:Fgfr4
|
UTSW |
13 |
55,309,198 (GRCm39) |
splice site |
probably benign |
|
|
R0727:Fgfr4
|
UTSW |
13 |
55,304,041 (GRCm39) |
splice site |
probably null |
|
|
R1646:Fgfr4
|
UTSW |
13 |
55,313,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1749:Fgfr4
|
UTSW |
13 |
55,315,605 (GRCm39) |
splice site |
probably null |
|
|
R1993:Fgfr4
|
UTSW |
13 |
55,313,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2037:Fgfr4
|
UTSW |
13 |
55,315,702 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2152:Fgfr4
|
UTSW |
13 |
55,314,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3086:Fgfr4
|
UTSW |
13 |
55,315,205 (GRCm39) |
splice site |
probably benign |
|
|
R3939:Fgfr4
|
UTSW |
13 |
55,304,307 (GRCm39) |
missense |
probably null |
0.96 |
|
R4255:Fgfr4
|
UTSW |
13 |
55,314,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4463:Fgfr4
|
UTSW |
13 |
55,304,280 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4510:Fgfr4
|
UTSW |
13 |
55,309,328 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4511:Fgfr4
|
UTSW |
13 |
55,309,328 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4852:Fgfr4
|
UTSW |
13 |
55,308,969 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4932:Fgfr4
|
UTSW |
13 |
55,315,983 (GRCm39) |
missense |
unknown |
|
|
R5133:Fgfr4
|
UTSW |
13 |
55,307,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5146:Fgfr4
|
UTSW |
13 |
55,313,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5380:Fgfr4
|
UTSW |
13 |
55,315,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5431:Fgfr4
|
UTSW |
13 |
55,304,464 (GRCm39) |
missense |
probably benign |
|
|
R5927:Fgfr4
|
UTSW |
13 |
55,314,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6318:Fgfr4
|
UTSW |
13 |
55,313,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6792:Fgfr4
|
UTSW |
13 |
55,304,711 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7018:Fgfr4
|
UTSW |
13 |
55,314,013 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7290:Fgfr4
|
UTSW |
13 |
55,309,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7343:Fgfr4
|
UTSW |
13 |
55,306,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Fgfr4
|
UTSW |
13 |
55,308,969 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7891:Fgfr4
|
UTSW |
13 |
55,306,964 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9028:Fgfr4
|
UTSW |
13 |
55,306,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9144:Fgfr4
|
UTSW |
13 |
55,315,837 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9257:Fgfr4
|
UTSW |
13 |
55,315,974 (GRCm39) |
missense |
unknown |
|
|
R9399:Fgfr4
|
UTSW |
13 |
55,304,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9457:Fgfr4
|
UTSW |
13 |
55,308,940 (GRCm39) |
missense |
probably benign |
|
|
R9553:Fgfr4
|
UTSW |
13 |
55,309,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9620:Fgfr4
|
UTSW |
13 |
55,308,994 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1177:Fgfr4
|
UTSW |
13 |
55,313,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fgfr4
|
UTSW |
13 |
55,309,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACGTCAGCTTTTGGCCC -3'
(R):5'- GCTGAAAACCGAGTCACTGG -3'
Sequencing Primer
(F):5'- ACTAAACTGCCCTGCGC -3'
(R):5'- TGCTGGCATCCCCATTGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation