Incidental Mutation 'IGL02641:Fgfrl1'
ID301724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgfrl1
Ensembl Gene ENSMUSG00000008090
Gene Namefibroblast growth factor receptor-like 1
SynonymsFGFR5, FGFR5beta, FGFR5gamma, fibroblast growth factor receptor 5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02641
Quality Score
Status
Chromosome5
Chromosomal Location108692382-108706924 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 108705865 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 279 (S279R)
Ref Sequence ENSEMBL: ENSMUSP00000108179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013633] [ENSMUST00000112560] [ENSMUST00000196222] [ENSMUST00000197255]
Predicted Effect possibly damaging
Transcript: ENSMUST00000013633
AA Change: S370R

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000013633
Gene: ENSMUSG00000008090
AA Change: S370R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGc2 38 102 2.64e-12 SMART
low complexity region 117 131 N/A INTRINSIC
IGc2 159 224 1.35e-18 SMART
IGc2 255 341 6.16e-4 SMART
transmembrane domain 372 394 N/A INTRINSIC
low complexity region 468 479 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112560
AA Change: S279R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108179
Gene: ENSMUSG00000008090
AA Change: S279R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 26 40 N/A INTRINSIC
IGc2 68 133 1.35e-18 SMART
IGc2 164 250 6.16e-4 SMART
transmembrane domain 281 303 N/A INTRINSIC
low complexity region 377 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196222
SMART Domains Protein: ENSMUSP00000143037
Gene: ENSMUSG00000008090

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGc2 38 102 1.1e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199802
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 would consist 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. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show neonatal death due to respiratory distress, a malformed diaphragm, and lack of metanephric kidneys. Homozygotes for a different null allele show both fetal and neonatal death, a similar diaphragm defect, as well as cardiac and skeletal defects, and fetal anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A T 4: 124,610,717 M14K unknown Het
Arhgap24 T C 5: 102,892,520 V441A probably damaging Het
Cdv3 G T 9: 103,364,024 Q115K probably damaging Het
Clstn1 G T 4: 149,629,511 G207C probably null Het
Col28a1 A T 6: 8,014,794 Y870* probably null Het
Creb3 A C 4: 43,563,311 H136P probably benign Het
Dcaf17 G A 2: 71,082,031 C320Y probably damaging Het
Fbl T C 7: 28,175,046 S66P probably damaging Het
Gdpgp1 C T 7: 80,239,048 R276* probably null Het
Hcfc2 A G 10: 82,702,549 Y140C probably damaging Het
Ighg3 A G 12: 113,360,198 I190T unknown Het
Itgav T C 2: 83,768,345 probably benign Het
Lce1c C A 3: 92,680,538 probably benign Het
Ldoc1 G A X: 61,709,813 C35Y probably damaging Het
Lrp10 T A 14: 54,468,611 C419* probably null Het
Micall2 T C 5: 139,719,339 D80G probably damaging Het
Olfr1444 T A 19: 12,862,202 C142* probably null Het
Pde3b C T 7: 114,530,817 T869I probably damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pkhd1 G A 1: 20,558,752 T657I possibly damaging Het
Pnisr A G 4: 21,860,908 N197S probably benign Het
Rpl21-ps4 G A 14: 11,227,661 noncoding transcript Het
Rtn4rl1 A C 11: 75,265,824 T361P probably damaging Het
Spaca9 C A 2: 28,695,951 E34* probably null Het
Trip10 T A 17: 57,262,411 D478E probably benign Het
Tsc22d2 A G 3: 58,416,155 D156G probably damaging Het
Ufc1 T C 1: 171,290,191 D50G probably damaging Het
Vmn1r202 T G 13: 22,502,104 I48L probably benign Het
Vmn2r111 A T 17: 22,573,224 V17E possibly damaging Het
Vps13a T A 19: 16,698,821 M1263L probably benign Het
Other mutations in Fgfrl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Fgfrl1 APN 5 108705887 missense probably damaging 1.00
IGL00756:Fgfrl1 APN 5 108705953 missense possibly damaging 0.91
R0725:Fgfrl1 UTSW 5 108704673 missense probably damaging 0.99
R1398:Fgfrl1 UTSW 5 108706281 unclassified probably benign
R1967:Fgfrl1 UTSW 5 108705005 missense probably damaging 1.00
R2403:Fgfrl1 UTSW 5 108705031 missense probably damaging 1.00
R3032:Fgfrl1 UTSW 5 108706060 missense probably benign 0.13
R3605:Fgfrl1 UTSW 5 108705423 missense probably damaging 0.96
R3606:Fgfrl1 UTSW 5 108705423 missense probably damaging 0.96
R3607:Fgfrl1 UTSW 5 108705423 missense probably damaging 0.96
R3767:Fgfrl1 UTSW 5 108705376 missense possibly damaging 0.78
R4603:Fgfrl1 UTSW 5 108703535 missense probably damaging 1.00
R4798:Fgfrl1 UTSW 5 108703497 nonsense probably null
R5600:Fgfrl1 UTSW 5 108705302 missense probably damaging 1.00
R6349:Fgfrl1 UTSW 5 108705506 missense probably damaging 1.00
R6679:Fgfrl1 UTSW 5 108704972 nonsense probably null
R6679:Fgfrl1 UTSW 5 108704973 missense probably damaging 1.00
R7247:Fgfrl1 UTSW 5 108703499 missense possibly damaging 0.91
X0018:Fgfrl1 UTSW 5 108704974 missense probably benign 0.00
Posted On2015-04-16