Incidental Mutation 'R6875:Fgf23'
ID 536370
Institutional Source Beutler Lab
Gene Symbol Fgf23
Ensembl Gene ENSMUSG00000000182
Gene Name fibroblast growth factor 23
Synonyms
MMRRC Submission 044971-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6875 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 127049865-127058371 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127050179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 63 (G63C)
Ref Sequence ENSEMBL: ENSMUSP00000000186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000186]
AlphaFold Q9EPC2
Predicted Effect probably damaging
Transcript: ENSMUST00000000186
AA Change: G63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000186
Gene: ENSMUSG00000000182
AA Change: G63C

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FGF 36 161 5.41e-14 SMART
low complexity region 228 243 N/A INTRINSIC
Meta Mutation Damage Score 0.8398 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: This gene encodes a member of the fibroblast growth factor family. The encoded protein regulates phosphate homeostasis and vitamin D metabolism. Mutation of the related gene in humans causes autosomal dominant hypophosphatemic rickets (ADHR). The secreted protein is further cleaved into N- and C-terminal chains, which results in loss of function. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutant mice are severely growth retarded and die prematurely. They exhibit hypophosphatemia, abnormal vitamin D metabolism, renal defects, skeletal defects, and are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T C 15: 12,812,154 (GRCm39) H270R probably damaging Het
Abcb1a T C 5: 8,751,628 (GRCm39) I336T probably benign Het
Adam19 T A 11: 46,003,702 (GRCm39) F177I probably benign Het
Ankrd53 T C 6: 83,745,155 (GRCm39) V455A probably damaging Het
Arrdc1 A G 2: 24,815,677 (GRCm39) S415P probably benign Het
Atp10a T C 7: 58,447,100 (GRCm39) L614P probably benign Het
Catsper1 G T 19: 5,393,991 (GRCm39) V668F probably damaging Het
Cluh T A 11: 74,552,744 (GRCm39) D596E probably damaging Het
Cnot10 A G 9: 114,444,175 (GRCm39) S407P probably benign Het
Commd6 T C 14: 101,871,786 (GRCm39) T86A probably damaging Het
D5Ertd579e A T 5: 36,762,001 (GRCm39) probably null Het
Eif3l A G 15: 78,969,760 (GRCm39) D252G probably damaging Het
Epha2 A T 4: 141,055,779 (GRCm39) S962C probably damaging Het
Fcho1 C A 8: 72,167,069 (GRCm39) probably null Het
Flnc A T 6: 29,445,748 (GRCm39) Y834F probably damaging Het
Gcn1 T C 5: 115,726,169 (GRCm39) L608P probably damaging Het
Hdac5 T A 11: 102,093,102 (GRCm39) E545V probably damaging Het
Hecw2 A T 1: 53,976,291 (GRCm39) M166K probably benign Het
Ikbkb T C 8: 23,155,909 (GRCm39) D586G probably damaging Het
Il36g G C 2: 24,078,633 (GRCm39) probably null Het
Ipo13 A T 4: 117,762,108 (GRCm39) I422N possibly damaging Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Kat6a G A 8: 23,422,377 (GRCm39) A896T probably benign Het
Kif28 A G 1: 179,563,559 (GRCm39) I139T probably damaging Het
Klhl25 A G 7: 75,516,090 (GRCm39) E332G probably damaging Het
Krt8 C T 15: 101,906,343 (GRCm39) A389T probably benign Het
Msrb3 T C 10: 120,620,011 (GRCm39) S175G probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myo10 T C 15: 25,805,745 (GRCm39) Y1709H probably benign Het
Nckap5 A G 1: 125,950,931 (GRCm39) S1519P probably benign Het
Npnt T A 3: 132,615,671 (GRCm39) D124V probably damaging Het
Nr1d1 A T 11: 98,661,662 (GRCm39) probably null Het
Ogdh A G 11: 6,290,477 (GRCm39) Y365C probably benign Het
Or4f56 A T 2: 111,703,306 (GRCm39) I298N possibly damaging Het
Phf21b A T 15: 84,671,647 (GRCm39) C416S probably damaging Het
Prpsap1 A G 11: 116,362,264 (GRCm39) S373P probably damaging Het
Qrfprl A T 6: 65,433,320 (GRCm39) N380I probably benign Het
Rab28 T C 5: 41,860,877 (GRCm39) T26A probably damaging Het
Rbbp8nl A G 2: 179,921,019 (GRCm39) I455T probably benign Het
Rnft2 G A 5: 118,366,883 (GRCm39) A285V possibly damaging Het
Rrp36 G T 17: 46,983,297 (GRCm39) Q106K probably benign Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scn5a A G 9: 119,315,710 (GRCm39) L1666P probably damaging Het
Siglecf A C 7: 43,004,624 (GRCm39) T318P probably benign Het
Slc22a1 C T 17: 12,886,192 (GRCm39) W147* probably null Het
Smchd1 T C 17: 71,660,501 (GRCm39) I1868V probably damaging Het
Snx21 A G 2: 164,633,822 (GRCm39) S203G probably damaging Het
Srl T C 16: 4,300,695 (GRCm39) K792R probably benign Het
Srrt A G 5: 137,296,935 (GRCm39) F100S probably benign Het
Stard9 G T 2: 120,527,917 (GRCm39) M1391I probably benign Het
Syne2 A G 12: 76,082,404 (GRCm39) E119G probably damaging Het
Syt11 G T 3: 88,669,462 (GRCm39) S143R possibly damaging Het
Tiparp T A 3: 65,439,063 (GRCm39) H126Q probably benign Het
Tulp2 C A 7: 45,168,038 (GRCm39) T150K probably benign Het
Ugt2b37 T A 5: 87,390,288 (GRCm39) Y386F probably benign Het
Usp31 C T 7: 121,248,863 (GRCm39) W860* probably null Het
Zfp317 A G 9: 19,554,961 (GRCm39) R30G probably damaging Het
Zfp709 C A 8: 72,642,851 (GRCm39) N93K possibly damaging Het
Other mutations in Fgf23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01718:Fgf23 APN 6 127,057,436 (GRCm39) missense probably benign
R0137:Fgf23 UTSW 6 127,057,128 (GRCm39) missense probably damaging 1.00
R0482:Fgf23 UTSW 6 127,050,122 (GRCm39) missense probably damaging 1.00
R1848:Fgf23 UTSW 6 127,050,156 (GRCm39) missense probably damaging 1.00
R6113:Fgf23 UTSW 6 127,055,117 (GRCm39) missense probably benign 0.00
R7798:Fgf23 UTSW 6 127,050,177 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGCTAGGGACCTGCCTTAG -3'
(R):5'- TCCCTCTAATTCTTGAGCAGAAG -3'

Sequencing Primer
(F):5'- TAGGGACCTGCCTTAGACTCCTG -3'
(R):5'- TCAGGTTGAGAAAAACTTGTGAGTC -3'
Posted On 2018-10-18