Incidental Mutation 'IGL01643:Fgfr1'
ID 93598
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgfr1
Ensembl Gene ENSMUSG00000031565
Gene Name fibroblast growth factor receptor 1
Synonyms Hspy, Fr1, FGFR-I, Fgfr-1, Flt-2, Eask
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01643
Quality Score
Status
Chromosome 8
Chromosomal Location 26008808-26067819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26056751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 280 (M280K)
Ref Sequence ENSEMBL: ENSMUSP00000113855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084027] [ENSMUST00000117179] [ENSMUST00000119398] [ENSMUST00000179592] [ENSMUST00000178276] [ENSMUST00000167764]
AlphaFold P16092
Predicted Effect probably benign
Transcript: ENSMUST00000084027
AA Change: M369K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000081041
Gene: ENSMUSG00000031565
AA Change: M369K

DomainStartEndE-ValueType
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: M367K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113909
Gene: ENSMUSG00000031565
AA Change: M367K

DomainStartEndE-ValueType
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: M280K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000113855
Gene: ENSMUSG00000031565
AA Change: M280K

DomainStartEndE-ValueType
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: ENSMUST00000179592
AA Change: M380K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136640
Gene: ENSMUSG00000031565
AA Change: M380K

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000178276
AA Change: M280K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137515
Gene: ENSMUSG00000031565
AA Change: M280K

DomainStartEndE-ValueType
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: ENSMUST00000167764
AA Change: M280K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131343
Gene: ENSMUSG00000031565
AA Change: M280K

DomainStartEndE-ValueType
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: ENSMUST00000138104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211419
Predicted Effect probably benign
Transcript: ENSMUST00000138455
Coding Region Coverage
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 (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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,082,414 (GRCm39) R304Q probably damaging Het
Afap1l1 T A 18: 61,884,897 (GRCm39) E196V probably damaging Het
Bmp5 A T 9: 75,746,895 (GRCm39) D251V probably damaging Het
Ccser1 A G 6: 61,288,839 (GRCm39) H334R probably benign Het
Crnkl1 A G 2: 145,773,268 (GRCm39) M126T probably damaging Het
Ddrgk1 T C 2: 130,500,214 (GRCm39) probably benign Het
Dpy19l4 T C 4: 11,290,184 (GRCm39) probably benign Het
Eral1 A G 11: 77,965,104 (GRCm39) probably null Het
Ereg T A 5: 91,234,637 (GRCm39) S17T probably benign Het
Gpr65 A G 12: 98,242,013 (GRCm39) E222G probably damaging Het
Grid1 G T 14: 35,045,392 (GRCm39) probably null Het
Hspa12b A G 2: 130,984,617 (GRCm39) T329A probably damaging Het
Inpp4b A G 8: 82,798,400 (GRCm39) I863V probably damaging Het
Kash5 A T 7: 44,849,710 (GRCm39) M71K probably damaging Het
Krt8 G T 15: 101,905,508 (GRCm39) S447Y possibly damaging Het
Lama2 T A 10: 26,946,368 (GRCm39) probably benign Het
Lama4 A C 10: 38,932,846 (GRCm39) N574T probably benign Het
Lig3 T C 11: 82,689,118 (GRCm39) S791P probably damaging Het
Oas2 A T 5: 120,874,252 (GRCm39) probably benign Het
Or4c12b A T 2: 89,647,017 (GRCm39) I116F probably damaging Het
Pdk1 A G 2: 71,728,049 (GRCm39) D370G probably damaging Het
Popdc3 T A 10: 45,190,976 (GRCm39) I29N probably damaging Het
Rbp3 A T 14: 33,678,793 (GRCm39) I914F probably benign Het
Rnf207 C T 4: 152,402,718 (GRCm39) probably benign Het
Ryr2 T A 13: 11,707,563 (GRCm39) I2825F possibly damaging Het
Slc37a2 A T 9: 37,146,849 (GRCm39) probably benign Het
Vps8 T C 16: 21,336,972 (GRCm39) V791A possibly damaging Het
Wdr64 T C 1: 175,599,877 (GRCm39) L127P probably damaging Het
Whrn T C 4: 63,334,672 (GRCm39) T368A possibly damaging Het
Other mutations in Fgfr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4323:Fgfr1 UTSW 8 26,063,915 (GRCm39) missense probably benign 0.37
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
Posted On 2013-12-09