Incidental Mutation 'IGL02002:Fgfr1'
ID 183115
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 # IGL02002
Quality Score
Status
Chromosome 8
Chromosomal Location 26008808-26067819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26045727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 112 (Y112H)
Ref Sequence ENSEMBL: ENSMUSP00000136640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084027] [ENSMUST00000117179] [ENSMUST00000119398] [ENSMUST00000124228] [ENSMUST00000179592] [ENSMUST00000210846] [ENSMUST00000178276] [ENSMUST00000167764] [ENSMUST00000155564]
AlphaFold P16092
Predicted Effect probably damaging
Transcript: ENSMUST00000084027
AA Change: Y99H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081041
Gene: ENSMUSG00000031565
AA Change: Y99H

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 damaging
Transcript: ENSMUST00000117179
AA Change: Y99H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113909
Gene: ENSMUSG00000031565
AA Change: Y99H

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
SMART Domains Protein: ENSMUSP00000113855
Gene: ENSMUSG00000031565

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 probably damaging
Transcript: ENSMUST00000124228
AA Change: Y99H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116564
Gene: ENSMUSG00000031565
AA Change: Y99H

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGc2 46 104 5.75e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126122
Predicted Effect unknown
Transcript: ENSMUST00000138104
AA Change: Y32H
Predicted Effect probably damaging
Transcript: ENSMUST00000179592
AA Change: Y112H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136640
Gene: ENSMUSG00000031565
AA Change: Y112H

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 noncoding transcript
Transcript: ENSMUST00000140451
Predicted Effect probably benign
Transcript: ENSMUST00000138455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148322
Predicted Effect probably benign
Transcript: ENSMUST00000210846
Predicted Effect probably benign
Transcript: ENSMUST00000178276
SMART Domains Protein: ENSMUSP00000137515
Gene: ENSMUSG00000031565

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
SMART Domains Protein: ENSMUSP00000131343
Gene: ENSMUSG00000031565

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: ENSMUST00000155564
SMART Domains Protein: ENSMUSP00000117884
Gene: ENSMUSG00000031565

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
PDB:2CKN|A 25 51 1e-12 PDB
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 G T 17: 84,989,479 (GRCm39) Y76* probably null Het
Acadsb T A 7: 131,030,258 (GRCm39) V135E probably damaging Het
Acap1 A G 11: 69,775,286 (GRCm39) Y326H probably damaging Het
Actl11 T A 9: 107,806,529 (GRCm39) V284D probably benign Het
Adcy10 G T 1: 165,349,412 (GRCm39) D428Y probably damaging Het
Akap8 A G 17: 32,528,470 (GRCm39) C481R probably damaging Het
Amotl2 G A 9: 102,602,316 (GRCm39) A26T probably damaging Het
Apob T C 12: 8,044,822 (GRCm39) V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 (GRCm39) N148K probably damaging Het
Ccdc149 G A 5: 52,563,421 (GRCm39) T124M probably damaging Het
Cd320 A G 17: 34,062,214 (GRCm39) probably benign Het
Clca4b T C 3: 144,638,194 (GRCm39) T23A probably benign Het
Col22a1 A G 15: 71,682,946 (GRCm39) probably benign Het
Col24a1 T A 3: 145,062,699 (GRCm39) F675I possibly damaging Het
Col6a3 A G 1: 90,709,858 (GRCm39) probably benign Het
Dap3 A T 3: 88,843,535 (GRCm39) M19K probably benign Het
Dsg2 A G 18: 20,712,233 (GRCm39) D123G probably damaging Het
Dysf T A 6: 84,187,769 (GRCm39) probably benign Het
Erbb4 A G 1: 68,119,885 (GRCm39) S853P probably damaging Het
Fbn2 A G 18: 58,247,625 (GRCm39) M423T probably benign Het
Fcgbpl1 A T 7: 27,852,221 (GRCm39) Y1248F probably damaging Het
Gbp7 G A 3: 142,244,661 (GRCm39) A203T probably damaging Het
Gon4l C T 3: 88,802,643 (GRCm39) P1085S possibly damaging Het
Gsdma2 T C 11: 98,541,800 (GRCm39) F176L probably damaging Het
Haghl A G 17: 26,003,239 (GRCm39) F131S probably damaging Het
Hmcn1 G A 1: 150,491,049 (GRCm39) P4167S probably damaging Het
Hscb T C 5: 110,978,820 (GRCm39) N199D probably benign Het
Lmbr1l T A 15: 98,802,666 (GRCm39) N428Y probably damaging Het
Mc2r T A 18: 68,540,505 (GRCm39) M263L probably benign Het
Metap1 T A 3: 138,168,150 (GRCm39) T325S probably damaging Het
Mff A G 1: 82,719,696 (GRCm39) R225G probably damaging Het
Naprt A T 15: 75,763,221 (GRCm39) L474Q probably damaging Het
Nin A T 12: 70,109,473 (GRCm39) Y155* probably null Het
Nrg3 A T 14: 38,092,724 (GRCm39) C612* probably null Het
Or2aj5 T C 16: 19,425,300 (GRCm39) I39M possibly damaging Het
Or5p52 A T 7: 107,502,497 (GRCm39) D191V possibly damaging Het
Or6c35 T A 10: 129,168,996 (GRCm39) I82K probably damaging Het
Pdilt A T 7: 119,099,667 (GRCm39) F200L probably damaging Het
Ppard T G 17: 28,517,877 (GRCm39) F315C probably damaging Het
Ror1 T A 4: 100,298,381 (GRCm39) S585T probably damaging Het
Spdye4a T A 5: 143,211,460 (GRCm39) I35F possibly damaging Het
Tenm2 T C 11: 36,097,922 (GRCm39) K442R probably benign Het
Tln2 A G 9: 67,263,980 (GRCm39) I553T probably damaging Het
Tmem269 T A 4: 119,071,338 (GRCm39) I26F probably benign Het
Tsen2 T C 6: 115,536,568 (GRCm39) V108A probably benign Het
Ttyh3 A T 5: 140,615,238 (GRCm39) D383E probably damaging Het
Tut7 A G 13: 59,929,910 (GRCm39) S1042P possibly damaging Het
Usp13 T C 3: 32,901,974 (GRCm39) S102P probably damaging Het
Vmn2r118 T G 17: 55,899,619 (GRCm39) S762R probably damaging Het
Washc4 A G 10: 83,415,407 (GRCm39) N799S possibly damaging Het
Zdhhc17 C T 10: 110,803,550 (GRCm39) V256I probably benign Het
Zfp51 T A 17: 21,684,221 (GRCm39) F279I probably damaging Het
Zzz3 A G 3: 152,157,006 (GRCm39) T223A probably 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
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
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 2014-05-07