Incidental Mutation 'R4323:Fgfr1'
| ID |
323917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgfr1
|
| Ensembl Gene |
ENSMUSG00000031565 |
| Gene Name |
fibroblast growth factor receptor 1 |
| Synonyms |
Hspy, Fr1, FGFR-I, Fgfr-1, Flt-2, Eask |
| MMRRC Submission |
041094-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4323 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
26008808-26067819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26063915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 814
(N814S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079160]
[ENSMUST00000084027]
[ENSMUST00000117179]
[ENSMUST00000119398]
[ENSMUST00000167764]
[ENSMUST00000178276]
[ENSMUST00000179592]
|
| AlphaFold |
P16092 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079160
|
| SMART Domains |
Protein: ENSMUSP00000078160
Gene: ENSMUSG00000037363
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
106 |
117 |
N/A |
INTRINSIC |
|
Pfam:LETM1
|
120 |
384 |
1.2e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084027
AA Change: N816S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000081041
Gene: ENSMUSG00000031565
AA Change: N816S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
46 |
108 |
2.94e-10 |
SMART |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
IGc2
|
169 |
237 |
4.09e-9 |
SMART |
|
IGc2
|
268 |
348 |
1.26e-9 |
SMART |
|
transmembrane domain
|
375 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
453 |
N/A |
INTRINSIC |
|
TyrKc
|
478 |
754 |
1.51e-155 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117179
AA Change: N814S
PolyPhen 2
Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113909
Gene: ENSMUSG00000031565
AA Change: N814S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
46 |
108 |
2.94e-10 |
SMART |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
IGc2
|
167 |
235 |
4.09e-9 |
SMART |
|
IGc2
|
266 |
346 |
1.26e-9 |
SMART |
|
transmembrane domain
|
373 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
451 |
N/A |
INTRINSIC |
|
TyrKc
|
476 |
752 |
1.51e-155 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119398
AA Change: N727S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113855
Gene: ENSMUSG00000031565
AA Change: N727S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
49 |
N/A |
INTRINSIC |
|
IGc2
|
80 |
148 |
4.09e-9 |
SMART |
|
IGc2
|
179 |
259 |
1.26e-9 |
SMART |
|
transmembrane domain
|
286 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
364 |
N/A |
INTRINSIC |
|
TyrKc
|
389 |
665 |
1.51e-155 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126118
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167764
AA Change: N727S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000131343
Gene: ENSMUSG00000031565
AA Change: N727S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
49 |
N/A |
INTRINSIC |
|
IGc2
|
78 |
146 |
4.09e-9 |
SMART |
|
IGc2
|
177 |
255 |
1.22e-7 |
SMART |
|
transmembrane domain
|
286 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
364 |
N/A |
INTRINSIC |
|
TyrKc
|
389 |
665 |
1.51e-155 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178276
AA Change: N727S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000137515
Gene: ENSMUSG00000031565
AA Change: N727S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
49 |
N/A |
INTRINSIC |
|
IGc2
|
78 |
146 |
4.09e-9 |
SMART |
|
IGc2
|
177 |
255 |
1.22e-7 |
SMART |
|
transmembrane domain
|
286 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
364 |
N/A |
INTRINSIC |
|
TyrKc
|
389 |
665 |
1.51e-155 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179592
AA Change: N827S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136640
Gene: ENSMUSG00000031565
AA Change: N827S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
59 |
121 |
2.94e-10 |
SMART |
|
low complexity region
|
137 |
151 |
N/A |
INTRINSIC |
|
IGc2
|
180 |
248 |
4.09e-9 |
SMART |
|
IGc2
|
279 |
359 |
1.26e-9 |
SMART |
|
transmembrane domain
|
386 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
464 |
N/A |
INTRINSIC |
|
TyrKc
|
489 |
765 |
1.51e-155 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138104
|
| Meta Mutation Damage Score |
0.0712 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
95% (59/62) |
| 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 (FGFR) 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 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 particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die around gastrulation and show defective patterning of axial structures. Hypomorphic and selectively ablated mutations exhibit a wide range of abnormalities affecting diverse structures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
G |
4: 62,465,548 (GRCm39) |
Y414C |
probably damaging |
Het |
| Akr1b1 |
T |
C |
6: 34,287,862 (GRCm39) |
T166A |
probably benign |
Het |
| Ankhd1 |
C |
T |
18: 36,711,686 (GRCm39) |
S94L |
probably damaging |
Het |
| B4galt3 |
G |
T |
1: 171,103,515 (GRCm39) |
M68I |
possibly damaging |
Het |
| Bpnt1 |
A |
C |
1: 185,088,786 (GRCm39) |
H312P |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,027 (GRCm39) |
V724A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,946,831 (GRCm39) |
C1022F |
probably damaging |
Het |
| Cwf19l2 |
T |
G |
9: 3,430,452 (GRCm39) |
F261L |
probably damaging |
Het |
| Esr1 |
G |
A |
10: 4,951,307 (GRCm39) |
V562M |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,333,716 (GRCm39) |
H643R |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,648,232 (GRCm39) |
M769L |
probably benign |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
T |
C |
16: 84,619,744 (GRCm39) |
|
probably benign |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,746,603 (GRCm39) |
I14T |
probably benign |
Het |
| Mitf |
A |
G |
6: 97,968,910 (GRCm39) |
Y10C |
probably benign |
Het |
| Mpo |
T |
C |
11: 87,686,865 (GRCm39) |
S165P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,884,696 (GRCm39) |
S486P |
probably benign |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,537,969 (GRCm39) |
V205I |
possibly damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,767 (GRCm39) |
|
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,802,608 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,118 (GRCm39) |
L218P |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,487,529 (GRCm39) |
I521T |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,735,270 (GRCm39) |
I618T |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Sp8 |
A |
G |
12: 118,812,171 (GRCm39) |
I9V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,434,407 (GRCm39) |
M352L |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,349 (GRCm39) |
M66T |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,792,159 (GRCm39) |
N32K |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,879,348 (GRCm39) |
T1486S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,153 (GRCm39) |
N281S |
probably benign |
Het |
| Zswim6 |
G |
A |
13: 108,025,938 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Fgfr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Fgfr1
|
APN |
8 |
26,052,239 (GRCm39) |
nonsense |
probably null |
|
|
IGL01537:Fgfr1
|
APN |
8 |
26,045,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01643:Fgfr1
|
APN |
8 |
26,056,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01875:Fgfr1
|
APN |
8 |
26,063,569 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02002:Fgfr1
|
APN |
8 |
26,045,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02698:Fgfr1
|
APN |
8 |
26,063,624 (GRCm39) |
nonsense |
probably null |
|
|
IGL02822:Fgfr1
|
APN |
8 |
26,047,818 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03292:Fgfr1
|
APN |
8 |
26,047,771 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0003:Fgfr1
|
UTSW |
8 |
26,058,214 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0723:Fgfr1
|
UTSW |
8 |
26,047,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0730:Fgfr1
|
UTSW |
8 |
26,045,760 (GRCm39) |
missense |
probably benign |
|
|
R1144:Fgfr1
|
UTSW |
8 |
26,048,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1455:Fgfr1
|
UTSW |
8 |
26,052,292 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1591:Fgfr1
|
UTSW |
8 |
26,062,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Fgfr1
|
UTSW |
8 |
26,060,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Fgfr1
|
UTSW |
8 |
26,048,231 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2139:Fgfr1
|
UTSW |
8 |
26,060,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2314:Fgfr1
|
UTSW |
8 |
26,060,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2517:Fgfr1
|
UTSW |
8 |
26,053,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2982:Fgfr1
|
UTSW |
8 |
26,048,227 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3796:Fgfr1
|
UTSW |
8 |
26,062,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3797:Fgfr1
|
UTSW |
8 |
26,062,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3799:Fgfr1
|
UTSW |
8 |
26,062,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4594:Fgfr1
|
UTSW |
8 |
26,063,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4614:Fgfr1
|
UTSW |
8 |
26,047,813 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4696:Fgfr1
|
UTSW |
8 |
26,053,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4916:Fgfr1
|
UTSW |
8 |
26,053,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4966:Fgfr1
|
UTSW |
8 |
26,062,461 (GRCm39) |
nonsense |
probably null |
|
|
R5094:Fgfr1
|
UTSW |
8 |
26,060,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5730:Fgfr1
|
UTSW |
8 |
26,063,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5911:Fgfr1
|
UTSW |
8 |
26,009,325 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R7310:Fgfr1
|
UTSW |
8 |
26,052,331 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7326:Fgfr1
|
UTSW |
8 |
26,063,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7404:Fgfr1
|
UTSW |
8 |
26,045,566 (GRCm39) |
missense |
probably benign |
|
|
R7611:Fgfr1
|
UTSW |
8 |
26,048,221 (GRCm39) |
nonsense |
probably null |
|
|
R7681:Fgfr1
|
UTSW |
8 |
26,045,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7738:Fgfr1
|
UTSW |
8 |
26,048,201 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7789:Fgfr1
|
UTSW |
8 |
26,052,329 (GRCm39) |
nonsense |
probably null |
|
|
R7958:Fgfr1
|
UTSW |
8 |
26,022,358 (GRCm39) |
missense |
probably benign |
|
|
R8206:Fgfr1
|
UTSW |
8 |
26,060,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8236:Fgfr1
|
UTSW |
8 |
26,052,288 (GRCm39) |
nonsense |
probably null |
|
|
R8691:Fgfr1
|
UTSW |
8 |
26,052,253 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9124:Fgfr1
|
UTSW |
8 |
26,060,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9633:Fgfr1
|
UTSW |
8 |
26,060,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9704:Fgfr1
|
UTSW |
8 |
26,063,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9798:Fgfr1
|
UTSW |
8 |
26,053,523 (GRCm39) |
missense |
unknown |
|
|
Z1177:Fgfr1
|
UTSW |
8 |
26,060,784 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1177:Fgfr1
|
UTSW |
8 |
26,053,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATCCCTTTCTGTCACAGGAG -3'
(R):5'- TCACACAGCAGGCTAAGAAG -3'
Sequencing Primer
(F):5'- TCTGTCACAGGAGTATCTGGACC -3'
(R):5'- AAGAGGGGTCTTGGGGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation