Incidental Mutation 'R3605:Fgfrl1'
ID 269047
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 040670-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3605 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 108842051-108854816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108853289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 213 (T213K)
Ref Sequence ENSEMBL: ENSMUSP00000108179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013633] [ENSMUST00000112560] [ENSMUST00000196222] [ENSMUST00000197255]
AlphaFold Q91V87
Predicted Effect possibly damaging
Transcript: ENSMUST00000013633
AA Change: T304K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000013633
Gene: ENSMUSG00000008090
AA Change: T304K

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: T213K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108179
Gene: ENSMUSG00000008090
AA Change: T213K

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
Meta Mutation Damage Score 0.3067 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 95% (40/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 C T 3: 96,589,497 (GRCm39) Q239* probably null Het
Arid4b T C 13: 14,294,826 (GRCm39) V36A probably damaging Het
Art2b T A 7: 101,229,152 (GRCm39) N249I probably benign Het
Bpifb1 T A 2: 154,053,485 (GRCm39) N242K possibly damaging Het
Cd200r1 A G 16: 44,609,939 (GRCm39) T53A possibly damaging Het
Cracr2b C T 7: 141,046,059 (GRCm39) P370S possibly damaging Het
Crb1 T A 1: 139,165,077 (GRCm39) T1016S probably damaging Het
Esrrg A G 1: 187,943,299 (GRCm39) H424R possibly damaging Het
Flrt3 T A 2: 140,503,287 (GRCm39) N114Y probably damaging Het
Fsip2 T C 2: 82,815,253 (GRCm39) V3662A probably benign Het
Gabra6 T A 11: 42,205,777 (GRCm39) I359F probably benign Het
Gal A G 19: 3,464,026 (GRCm39) probably null Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm5814 G T 17: 47,721,430 (GRCm39) R48L probably damaging Het
Hcn1 G A 13: 118,111,788 (GRCm39) G584D unknown Het
Iqgap1 T C 7: 80,373,537 (GRCm39) D1484G probably benign Het
Kmt2a G A 9: 44,760,493 (GRCm39) T485M probably damaging Het
Kprp C A 3: 92,731,588 (GRCm39) Q487H unknown Het
Lctl T C 9: 64,040,475 (GRCm39) Y473H probably damaging Het
Lrrc8d G A 5: 105,974,873 (GRCm39) C93Y unknown Het
Mnt T A 11: 74,727,746 (GRCm39) S211T possibly damaging Het
Mtdh T A 15: 34,114,258 (GRCm39) probably benign Het
Nxt1 T C 2: 148,517,399 (GRCm39) W47R probably damaging Het
Or4f59 T A 2: 111,873,168 (GRCm39) I70F probably benign Het
Or5k3 T C 16: 58,969,846 (GRCm39) I211T probably damaging Het
Plekha7 T C 7: 115,763,477 (GRCm39) D313G possibly damaging Het
Ranbp10 A G 8: 106,502,667 (GRCm39) S300P probably benign Het
Rbl1 A T 2: 157,019,153 (GRCm39) F531I probably damaging Het
Rpap2 A G 5: 107,768,395 (GRCm39) D411G probably damaging Het
Sapcd1 A G 17: 35,246,781 (GRCm39) F36L probably damaging Het
Svep1 A T 4: 58,066,542 (GRCm39) S3181T probably benign Het
Tgfbr2 G A 9: 115,938,960 (GRCm39) T314I probably benign Het
Thbs4 G T 13: 92,894,467 (GRCm39) C685* probably null Het
Tk2 A G 8: 104,957,803 (GRCm39) V181A possibly damaging Het
Traf2 T C 2: 25,420,427 (GRCm39) T141A probably benign Het
Ttn C T 2: 76,661,788 (GRCm39) probably null Het
Ube3c A G 5: 29,803,936 (GRCm39) T180A possibly damaging Het
Yif1b C T 7: 28,937,835 (GRCm39) A7V possibly damaging Het
Zfp738 A T 13: 67,819,508 (GRCm39) L151* probably null 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
R3032:Fgfrl1 UTSW 5 108,853,926 (GRCm39) missense probably benign 0.13
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'- TTTCCTTGGCTTAGAGCGGAC -3'
(R):5'- CCCAGACCAATGGTAGAGACTG -3'

Sequencing Primer
(F):5'- TGTGCTCACAGGGACACAC -3'
(R):5'- CCAATGGTAGAGACTGAGAGTAAAC -3'
Posted On 2015-02-19