Incidental Mutation 'R3032:Fgfrl1'
ID 264748
Institutional Source Beutler Lab
Gene Symbol Fgfrl1
Ensembl Gene ENSMUSG00000008090
Gene Name fibroblast growth factor receptor-like 1
Synonyms FGFR5gamma, fibroblast growth factor receptor 5, FGFR5, FGFR5beta
MMRRC Submission 040548-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3032 (G1)
Quality Score 214
Status Not validated
Chromosome 5
Chromosomal Location 108842051-108854816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108853926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 344 (I344M)
Ref Sequence ENSEMBL: ENSMUSP00000108179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013633] [ENSMUST00000112560] [ENSMUST00000196222] [ENSMUST00000197255]
AlphaFold Q91V87
Predicted Effect probably benign
Transcript: ENSMUST00000013633
AA Change: I435M

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000013633
Gene: ENSMUSG00000008090
AA Change: I435M

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 benign
Transcript: ENSMUST00000112560
AA Change: I344M

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108179
Gene: ENSMUSG00000008090
AA Change: I344M

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A T 14: 8,253,466 (GRCm38) L227Q probably damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dpysl4 A G 7: 138,676,152 (GRCm39) N315D probably benign Het
Eps8 A T 6: 137,489,175 (GRCm39) S408T probably damaging Het
F13b A C 1: 139,445,071 (GRCm39) T574P probably damaging Het
Or5b21 G A 19: 12,839,282 (GRCm39) V48I probably benign Het
Park7 T C 4: 150,985,509 (GRCm39) K122R probably benign Het
Psg18 G A 7: 18,084,904 (GRCm39) S64L probably benign Het
Rhbdf1 T C 11: 32,159,985 (GRCm39) D172G probably damaging Het
Serpinb6b G A 13: 33,152,551 (GRCm39) G20D possibly damaging Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Syt14 A T 1: 192,669,059 (GRCm39) Y65N possibly damaging Het
Tll1 T C 8: 64,551,526 (GRCm39) N285S probably damaging Het
Umodl1 G A 17: 31,208,502 (GRCm39) R849Q probably benign Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Other mutations in Fgfrl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Fgfrl1 APN 5 108,853,753 (GRCm39) missense probably damaging 1.00
IGL00756:Fgfrl1 APN 5 108,853,819 (GRCm39) missense possibly damaging 0.91
IGL02641:Fgfrl1 APN 5 108,853,731 (GRCm39) missense probably damaging 1.00
R0725:Fgfrl1 UTSW 5 108,852,539 (GRCm39) missense probably damaging 0.99
R1398:Fgfrl1 UTSW 5 108,854,147 (GRCm39) unclassified probably benign
R1967:Fgfrl1 UTSW 5 108,852,871 (GRCm39) missense probably damaging 1.00
R2403:Fgfrl1 UTSW 5 108,852,897 (GRCm39) missense probably damaging 1.00
R3605:Fgfrl1 UTSW 5 108,853,289 (GRCm39) missense probably damaging 0.96
R3606:Fgfrl1 UTSW 5 108,853,289 (GRCm39) missense probably damaging 0.96
R3607:Fgfrl1 UTSW 5 108,853,289 (GRCm39) missense probably damaging 0.96
R3767:Fgfrl1 UTSW 5 108,853,242 (GRCm39) missense possibly damaging 0.78
R4603:Fgfrl1 UTSW 5 108,851,401 (GRCm39) missense probably damaging 1.00
R4798:Fgfrl1 UTSW 5 108,851,363 (GRCm39) nonsense probably null
R5600:Fgfrl1 UTSW 5 108,853,168 (GRCm39) missense probably damaging 1.00
R6349:Fgfrl1 UTSW 5 108,853,372 (GRCm39) missense probably damaging 1.00
R6679:Fgfrl1 UTSW 5 108,852,839 (GRCm39) missense probably damaging 1.00
R6679:Fgfrl1 UTSW 5 108,852,838 (GRCm39) nonsense probably null
R7247:Fgfrl1 UTSW 5 108,851,365 (GRCm39) missense possibly damaging 0.91
R7608:Fgfrl1 UTSW 5 108,853,211 (GRCm39) missense probably damaging 1.00
R7947:Fgfrl1 UTSW 5 108,853,142 (GRCm39) missense probably damaging 0.96
R8933:Fgfrl1 UTSW 5 108,851,257 (GRCm39) missense probably damaging 0.96
R9039:Fgfrl1 UTSW 5 108,853,439 (GRCm39) critical splice donor site probably null
R9661:Fgfrl1 UTSW 5 108,853,841 (GRCm39) missense probably benign
X0018:Fgfrl1 UTSW 5 108,852,840 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCATCCACAAGCCTGCCATG -3'
(R):5'- GGAGATTCGCTGTATTTAGCACTG -3'

Sequencing Primer
(F):5'- TGTGGTGATCGGCATCCCAG -3'
(R):5'- CACTGATAGTGGACATGCTGG -3'
Posted On 2015-02-05