Incidental Mutation 'R8206:Fgfr1'
ID 635917
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 067629-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8206 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 26008808-26067819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26060258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 463 (T463A)
Ref Sequence ENSEMBL: ENSMUSP00000113855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084027] [ENSMUST00000117179] [ENSMUST00000119398] [ENSMUST00000167764] [ENSMUST00000178276] [ENSMUST00000179592]
AlphaFold P16092
Predicted Effect probably damaging
Transcript: ENSMUST00000084027
AA Change: T552A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000081041
Gene: ENSMUSG00000031565
AA Change: T552A

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: T550A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113909
Gene: ENSMUSG00000031565
AA Change: T550A

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: T463A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113855
Gene: ENSMUSG00000031565
AA Change: T463A

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: ENSMUST00000138104
Predicted Effect probably damaging
Transcript: ENSMUST00000167764
AA Change: T463A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131343
Gene: ENSMUSG00000031565
AA Change: T463A

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: ENSMUST00000178276
AA Change: T463A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137515
Gene: ENSMUSG00000031565
AA Change: T463A

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: T563A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136640
Gene: ENSMUSG00000031565
AA Change: T563A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,860,958 (GRCm39) Y342H probably damaging Het
Aqp4 T A 18: 15,526,716 (GRCm39) D255V possibly damaging Het
Arhgap26 C A 18: 39,439,803 (GRCm39) S247* probably null Het
Arid4a A G 12: 71,133,361 (GRCm39) D1154G probably damaging Het
Atpaf2 A G 11: 60,295,304 (GRCm39) I182T probably damaging Het
Cacna1i C A 15: 80,274,016 (GRCm39) probably null Het
Ccdc38 A G 10: 93,399,146 (GRCm39) S205G probably damaging Het
Cep63 A G 9: 102,498,470 (GRCm39) probably benign Het
Cripto G A 9: 110,773,352 (GRCm39) probably benign Het
Cyp24a1 T C 2: 170,333,589 (GRCm39) T255A possibly damaging Het
Dlg5 A G 14: 24,210,336 (GRCm39) S787P possibly damaging Het
Dnah6 A T 6: 73,014,549 (GRCm39) C3679* probably null Het
Dpy19l3 T C 7: 35,429,155 (GRCm39) Y95C probably damaging Het
Erc2 G A 14: 28,024,972 (GRCm39) probably null Het
Ezh2 A T 6: 47,509,834 (GRCm39) probably null Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fsip2 T C 2: 82,820,808 (GRCm39) S5514P possibly damaging Het
Glrb A G 3: 80,758,373 (GRCm39) Y347H probably damaging Het
Gm14325 C A 2: 177,474,767 (GRCm39) C105F probably damaging Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Ighv1-76 T C 12: 115,811,934 (GRCm39) M1V probably null Het
Inppl1 A G 7: 101,472,783 (GRCm39) I1207T possibly damaging Het
Kmt2c T A 5: 25,519,537 (GRCm39) Q2191L probably damaging Het
Krt79 T A 15: 101,848,705 (GRCm39) probably null Het
Mast4 G A 13: 102,872,247 (GRCm39) L2374F probably damaging Het
Mgam A G 6: 40,657,169 (GRCm39) N951S probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 A T 13: 100,431,344 (GRCm39) C1164* probably null Het
Nfatc2ip G T 7: 125,989,906 (GRCm39) D189E probably damaging Het
Nrp1 A G 8: 129,184,438 (GRCm39) D361G probably damaging Het
Nrp2 T C 1: 62,786,374 (GRCm39) I293T probably damaging Het
Pate5 A T 9: 35,750,719 (GRCm39) F34L possibly damaging Het
Pde3a T C 6: 141,433,611 (GRCm39) V831A probably damaging Het
Pirb A G 7: 3,715,905 (GRCm39) probably null Het
Plch1 G T 3: 63,610,047 (GRCm39) probably null Het
Plekhh2 A G 17: 84,898,277 (GRCm39) T973A possibly damaging Het
Ppp1r35 T A 5: 137,778,296 (GRCm39) I97K unknown Het
Ppp1r3c C T 19: 36,710,846 (GRCm39) G308E probably benign Het
Prss12 G A 3: 123,258,611 (GRCm39) probably null Het
Rad51b A G 12: 79,361,715 (GRCm39) D142G probably damaging Het
Slc13a3 C T 2: 165,248,745 (GRCm39) G553D probably damaging Het
Spata31d1d A C 13: 59,879,344 (GRCm39) V64G probably benign Het
Srp68 G A 11: 116,164,809 (GRCm39) R42C probably damaging Het
Syne2 T C 12: 76,062,365 (GRCm39) V4229A probably benign Het
Tas2r144 G A 6: 42,192,325 (GRCm39) V22M probably damaging Het
Tcf7l1 A G 6: 72,604,395 (GRCm39) L583P probably damaging Het
Tdrd3 A G 14: 87,749,214 (GRCm39) D708G probably benign Het
Tns4 A T 11: 98,976,627 (GRCm39) L98Q probably damaging Het
Zfp677 T A 17: 21,612,717 (GRCm39) probably null 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
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
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'- ACATGGTAGTAGTGGCTCCTG -3'
(R):5'- GGTAGGTGCCCTAATGTAGAC -3'

Sequencing Primer
(F):5'- TCCTGGAGAAAAGGGGGCTC -3'
(R):5'- GGTGCCCTAATGTAGACTCTATTAAC -3'
Posted On 2020-07-13