Incidental Mutation 'R0723:Fgfr1'
ID 218681
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 038905-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0723 (G1)
Quality Score 63
Status Validated
Chromosome 8
Chromosomal Location 26008808-26067819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26047784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 43 (D43E)
Ref Sequence ENSEMBL: ENSMUSP00000113855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084027] [ENSMUST00000117179] [ENSMUST00000119398] [ENSMUST00000124228] [ENSMUST00000179592] [ENSMUST00000178276] [ENSMUST00000167764] [ENSMUST00000210846] [ENSMUST00000155564]
AlphaFold P16092
Predicted Effect probably benign
Transcript: ENSMUST00000084027
AA Change: D132E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000081041
Gene: ENSMUSG00000031565
AA Change: D132E

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: D132E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113909
Gene: ENSMUSG00000031565
AA Change: D132E

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 damaging
Transcript: ENSMUST00000119398
AA Change: D43E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113855
Gene: ENSMUSG00000031565
AA Change: D43E

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 benign
Transcript: ENSMUST00000124228
SMART Domains Protein: ENSMUSP00000116564
Gene: ENSMUSG00000031565

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGc2 46 104 5.75e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126122
Predicted Effect probably benign
Transcript: ENSMUST00000138104
AA Change: D65E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000138455
Predicted Effect probably benign
Transcript: ENSMUST00000179592
AA Change: D145E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000136640
Gene: ENSMUSG00000031565
AA Change: D145E

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 damaging
Transcript: ENSMUST00000178276
AA Change: D43E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137515
Gene: ENSMUSG00000031565
AA Change: D43E

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 damaging
Transcript: ENSMUST00000167764
AA Change: D43E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131343
Gene: ENSMUSG00000031565
AA Change: D43E

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 noncoding transcript
Transcript: ENSMUST00000148322
Predicted Effect probably benign
Transcript: ENSMUST00000210846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140451
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
Meta Mutation Damage Score 0.0888 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 99% (69/70)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Acbd5 T G 2: 22,959,608 (GRCm39) V54G probably damaging Het
Acin1 A T 14: 54,902,908 (GRCm39) S255T probably damaging Het
Adcy2 A G 13: 69,147,248 (GRCm39) L56P probably damaging Het
Akap6 G T 12: 53,188,685 (GRCm39) C2033F probably damaging Het
Ano5 A G 7: 51,237,506 (GRCm39) I777V probably benign Het
Arhgef28 A G 13: 98,075,987 (GRCm39) V1349A probably benign Het
Atosa G A 9: 74,916,733 (GRCm39) G444E probably damaging Het
Bank1 T C 3: 135,760,164 (GRCm39) probably null Het
C2cd5 T C 6: 142,987,281 (GRCm39) probably benign Het
Cadps2 A G 6: 23,287,697 (GRCm39) V1161A probably damaging Het
Car8 A T 4: 8,169,703 (GRCm39) D268E probably benign Het
Ciao3 G A 17: 26,000,795 (GRCm39) V406M probably damaging Het
Ckap5 T A 2: 91,385,676 (GRCm39) S175T probably damaging Het
Clk4 T A 11: 51,166,320 (GRCm39) Y67* probably null Het
Copg2 T C 6: 30,792,917 (GRCm39) I473V possibly damaging Het
Cstdc1 T C 2: 148,625,282 (GRCm39) I72T probably damaging Het
Cyp2s1 C T 7: 25,508,973 (GRCm39) V43I probably benign Het
Ddx54 A G 5: 120,761,703 (GRCm39) D493G probably benign Het
Efemp2 T C 19: 5,530,078 (GRCm39) S140P probably damaging Het
Fat1 C A 8: 45,479,786 (GRCm39) T2944K probably damaging Het
Fry G A 5: 150,419,825 (GRCm39) A996T probably damaging Het
Fyb2 G A 4: 104,873,063 (GRCm39) V784I probably benign Het
Gm6507 T A 6: 89,162,144 (GRCm39) noncoding transcript Het
Gm7964 T C 7: 83,405,374 (GRCm39) noncoding transcript Het
Gucy2c T C 6: 136,704,799 (GRCm39) probably null Het
Hdac10 A T 15: 89,010,621 (GRCm39) L259Q probably damaging Het
Hoxd9 A T 2: 74,529,172 (GRCm39) D258V probably damaging Het
Hs3st3b1 T C 11: 63,812,401 (GRCm39) T105A probably benign Het
Hsd17b7 A G 1: 169,783,595 (GRCm39) L271P probably damaging Het
Ifnlr1 T A 4: 135,428,524 (GRCm39) probably benign Het
Kif22 A T 7: 126,633,078 (GRCm39) M121K probably damaging Het
Kl G A 5: 150,876,566 (GRCm39) D129N probably damaging Het
Mettl13 A T 1: 162,361,999 (GRCm39) I648N probably damaging Het
Mlh1 C T 9: 111,100,540 (GRCm39) R18H probably damaging Het
Mtmr14 T C 6: 113,247,473 (GRCm39) probably benign Het
Myo15a C A 11: 60,369,803 (GRCm39) N854K possibly damaging Het
Myo1h T C 5: 114,457,741 (GRCm39) I84T probably benign Het
Myo9a A T 9: 59,778,383 (GRCm39) S1380C probably benign Het
Myof A G 19: 37,969,708 (GRCm39) V318A probably damaging Het
N4bp2l2 A G 5: 150,585,897 (GRCm39) S28P probably damaging Het
Nbr1 C T 11: 101,467,145 (GRCm39) Q570* probably null Het
Nhp2 C T 11: 51,510,750 (GRCm39) Q36* probably null Het
Or1e17 T G 11: 73,831,096 (GRCm39) V8G probably benign Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Poc1b T A 10: 98,965,457 (GRCm39) W129R probably damaging Het
Potegl T C 2: 23,146,936 (GRCm39) probably benign Het
Rapgef2 C T 3: 78,986,481 (GRCm39) E1018K probably benign Het
Rgs12 T C 5: 35,181,710 (GRCm39) probably benign Het
Rufy2 G A 10: 62,833,873 (GRCm39) V280I probably benign Het
Snx2 A G 18: 53,343,444 (GRCm39) I281V probably benign Het
Spag5 C A 11: 78,210,410 (GRCm39) probably benign Het
Spata31g1 T A 4: 42,971,691 (GRCm39) N341K probably damaging Het
Stxbp5 A T 10: 9,644,617 (GRCm39) I961N probably damaging Het
Tet2 T C 3: 133,173,045 (GRCm39) E1739G probably benign Het
Tmod2 A G 9: 75,502,337 (GRCm39) F50S possibly damaging Het
Tnfsf13b T G 8: 10,057,166 (GRCm39) probably null Het
Ttn T C 2: 76,616,679 (GRCm39) K16525E possibly damaging Het
Txnrd2 T C 16: 18,259,629 (GRCm39) probably benign Het
Ubr1 A T 2: 120,711,582 (GRCm39) Y1437* probably null Het
Vwf C A 6: 125,543,225 (GRCm39) D170E probably benign Het
Wdr95 C G 5: 149,497,513 (GRCm39) I230M probably damaging Het
Xirp2 C T 2: 67,342,559 (GRCm39) S1600F probably damaging Het
Zfp12 A G 5: 143,230,638 (GRCm39) K322E 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
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
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
Predicted Primers PCR Primer
(F):5'- GTTATCCATGTCACCGCGTTGACC -3'
(R):5'- GGGCACTTGAACTTCACCGTCTTG -3'

Sequencing Primer
(F):5'- GCGTTGACCGCAGTGAG -3'
(R):5'- TCCAGTAGGGAGCTACAGC -3'
Posted On 2014-08-19