Incidental Mutation 'R1144:Fgfr1'
ID102276
Institutional Source Beutler Lab
Gene Symbol Fgfr1
Ensembl Gene ENSMUSG00000031565
Gene Namefibroblast growth factor receptor 1
SynonymsEask, Hspy, Fgfr-1, Flt-2
MMRRC Submission 039217-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1144 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location25513654-25575718 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 25558143 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 172 (V172G)
Ref Sequence ENSEMBL: ENSMUSP00000113909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084027] [ENSMUST00000117179] [ENSMUST00000119398] [ENSMUST00000124228] [ENSMUST00000155564] [ENSMUST00000167764] [ENSMUST00000178276] [ENSMUST00000179592] [ENSMUST00000210846]
Predicted Effect probably damaging
Transcript: ENSMUST00000084027
AA Change: V174G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000081041
Gene: ENSMUSG00000031565
AA Change: V174G

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: V172G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113909
Gene: ENSMUSG00000031565
AA Change: V172G

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: V85G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113855
Gene: ENSMUSG00000031565
AA Change: V85G

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 unknown
Transcript: ENSMUST00000138104
AA Change: V107G
Predicted Effect silent
Transcript: ENSMUST00000138455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148322
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
Predicted Effect possibly damaging
Transcript: ENSMUST00000167764
AA Change: V83G

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131343
Gene: ENSMUSG00000031565
AA Change: V83G

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 possibly damaging
Transcript: ENSMUST00000178276
AA Change: V83G

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137515
Gene: ENSMUSG00000031565
AA Change: V83G

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: ENSMUST00000179592
AA Change: V185G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136640
Gene: ENSMUSG00000031565
AA Change: V185G

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: ENSMUST00000210778
Predicted Effect probably benign
Transcript: ENSMUST00000210846
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 100% (64/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 120,360,860 probably benign Het
Abcc5 A T 16: 20,422,438 probably benign Het
Acsl5 A C 19: 55,291,843 D516A probably damaging Het
Adcy1 G A 11: 7,137,400 A425T probably damaging Het
Aebp1 A G 11: 5,868,475 T107A probably benign Het
Arhgef33 T C 17: 80,355,044 S219P probably benign Het
Atm T G 9: 53,511,698 probably benign Het
C1ql2 A C 1: 120,342,537 Y276S probably damaging Het
Cacna2d1 T C 5: 16,322,597 probably null Het
Cmbl A G 15: 31,581,874 N6D probably benign Het
Cntn3 A G 6: 102,242,126 V511A possibly damaging Het
Coq9 C A 8: 94,842,623 R28S probably benign Het
Creld1 T C 6: 113,483,961 F20S probably benign Het
Dcstamp A G 15: 39,760,368 K404E possibly damaging Het
Dip2b T A 15: 100,154,250 I244K probably benign Het
Dnhd1 G A 7: 105,713,031 E3700K probably damaging Het
Dnmt3l T A 10: 78,051,905 C110S probably damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Frem3 C A 8: 80,611,884 Q269K probably benign Het
Frmd6 C A 12: 70,877,168 H67N probably damaging Het
Fry A G 5: 150,418,464 T1532A possibly damaging Het
Git2 G T 5: 114,753,314 S243R probably benign Het
Grid1 A G 14: 35,562,676 probably benign Het
Grp A G 18: 65,879,970 D69G probably damaging Het
Hmbox1 A T 14: 64,825,683 L347Q probably damaging Het
Hrasls5 A G 19: 7,613,330 D74G probably benign Het
Hsh2d C T 8: 72,193,592 probably benign Het
Itpr3 G A 17: 27,114,923 S2018N probably benign Het
Kif13b T A 14: 64,714,117 V69D probably benign Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Lmcd1 T A 6: 112,310,751 probably benign Het
Megf9 C A 4: 70,534,624 A67S probably benign Het
Myo5b G A 18: 74,625,587 R213H probably damaging Het
Myo5c T A 9: 75,286,448 Y1162N probably damaging Het
Nphs1 A G 7: 30,481,678 probably benign Het
Ntrk1 G A 3: 87,781,542 T568I probably damaging Het
Pcmtd1 A G 1: 7,120,481 H58R probably damaging Het
Plxna4 A T 6: 32,197,156 I1168N possibly damaging Het
Ppm1h A G 10: 122,941,278 D483G probably benign Het
Prdm15 G A 16: 97,808,708 R579C probably damaging Het
Prickle1 T A 15: 93,512,461 R41W probably damaging Het
Rbm19 A G 5: 120,123,016 D235G possibly damaging Het
Smco2 A G 6: 146,871,140 probably benign Het
Sned1 G C 1: 93,280,576 G785R probably damaging Het
Stat4 A G 1: 52,084,129 probably benign Het
Syne2 T A 12: 75,966,524 F2830I probably benign Het
Tbc1d9 A G 8: 83,236,571 D304G possibly damaging Het
Thsd7a G A 6: 12,471,027 probably benign Het
Tmem63b T A 17: 45,666,427 K383N probably benign Het
Trp53rka C A 2: 165,493,041 probably benign Het
Trub1 G A 19: 57,485,131 V207M probably benign Het
Ulk2 A T 11: 61,800,060 C551S possibly damaging Het
Urb1 A T 16: 90,776,318 probably null Het
Vmn1r219 C A 13: 23,163,213 Q191K probably damaging Het
Vmn2r1 A T 3: 64,090,120 D399V probably damaging Het
Vmn2r87 A G 10: 130,476,229 probably benign Het
Wars A T 12: 108,888,365 L41* probably null Het
Washc2 G A 6: 116,224,534 E64K probably damaging Het
Washc4 G A 10: 83,580,330 R828Q probably damaging Het
Wdr59 A T 8: 111,486,944 M313K probably benign Het
Wscd2 G A 5: 113,561,090 probably null Het
Zdhhc20 A C 14: 57,856,678 L176V probably benign Het
Other mutations in Fgfr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Fgfr1 APN 8 25562223 nonsense probably null
IGL01537:Fgfr1 APN 8 25555579 missense probably damaging 1.00
IGL01643:Fgfr1 APN 8 25566735 missense probably benign 0.01
IGL01875:Fgfr1 APN 8 25573553 missense possibly damaging 0.81
IGL02002:Fgfr1 APN 8 25555711 missense probably damaging 1.00
IGL02698:Fgfr1 APN 8 25573608 nonsense probably null
IGL02822:Fgfr1 APN 8 25557802 missense probably benign 0.13
IGL03292:Fgfr1 APN 8 25557755 missense possibly damaging 0.50
R0003:Fgfr1 UTSW 8 25568198 missense possibly damaging 0.80
R0723:Fgfr1 UTSW 8 25557768 missense probably damaging 0.99
R0730:Fgfr1 UTSW 8 25555744 missense probably benign
R1455:Fgfr1 UTSW 8 25562276 missense possibly damaging 0.81
R1591:Fgfr1 UTSW 8 25572720 missense probably damaging 1.00
R1754:Fgfr1 UTSW 8 25570210 missense probably damaging 1.00
R2045:Fgfr1 UTSW 8 25558215 missense probably benign 0.04
R2139:Fgfr1 UTSW 8 25570866 missense probably damaging 1.00
R2314:Fgfr1 UTSW 8 25570893 missense probably damaging 1.00
R2517:Fgfr1 UTSW 8 25563446 missense probably damaging 1.00
R2982:Fgfr1 UTSW 8 25558211 missense probably benign 0.04
R3796:Fgfr1 UTSW 8 25572437 missense probably damaging 1.00
R3797:Fgfr1 UTSW 8 25572437 missense probably damaging 1.00
R3799:Fgfr1 UTSW 8 25572437 missense probably damaging 1.00
R4323:Fgfr1 UTSW 8 25573899 missense probably benign 0.37
R4594:Fgfr1 UTSW 8 25573836 missense probably damaging 0.99
R4614:Fgfr1 UTSW 8 25557797 missense probably benign 0.25
R4696:Fgfr1 UTSW 8 25563488 missense probably damaging 0.99
R4916:Fgfr1 UTSW 8 25563526 critical splice donor site probably null
R4966:Fgfr1 UTSW 8 25572445 nonsense probably null
R5094:Fgfr1 UTSW 8 25570165 missense probably damaging 1.00
R5730:Fgfr1 UTSW 8 25573811 missense probably damaging 1.00
R5911:Fgfr1 UTSW 8 25519309 utr 5 prime probably benign
R7310:Fgfr1 UTSW 8 25562315 missense probably benign 0.01
R7326:Fgfr1 UTSW 8 25573839 missense probably damaging 1.00
R7404:Fgfr1 UTSW 8 25555550 missense probably benign
R7611:Fgfr1 UTSW 8 25558205 nonsense probably null
R7681:Fgfr1 UTSW 8 25555661 missense probably damaging 0.98
R7738:Fgfr1 UTSW 8 25558185 missense probably damaging 0.96
R7789:Fgfr1 UTSW 8 25562313 nonsense probably null
Z1177:Fgfr1 UTSW 8 25563398 missense probably benign 0.00
Z1177:Fgfr1 UTSW 8 25570768 missense possibly damaging 0.67
Predicted Primers
Posted On2014-01-15