Incidental Mutation 'R1202:Fndc5'
ID 100184
Institutional Source Beutler Lab
Gene Symbol Fndc5
Ensembl Gene ENSMUSG00000001334
Gene Name fibronectin type III domain containing 5
Synonyms Pxp, 1500001L03Rik, PeP
MMRRC Submission 039272-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R1202 (G1)
Quality Score 220
Status Not validated
Chromosome 4
Chromosomal Location 129030792-129038386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129033238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 102 (V102M)
Ref Sequence ENSEMBL: ENSMUSP00000099660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102600]
AlphaFold Q8K4Z2
Predicted Effect probably damaging
Transcript: ENSMUST00000102600
AA Change: V102M

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099660
Gene: ENSMUSG00000001334
AA Change: V102M

DomainStartEndE-ValueType
FN3 31 111 7.34e-9 SMART
Pfam:DUF4808 146 204 4.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124746
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 86.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a type I transmembrane protein containing fibronectin type III repeat. The encoded transmembrane protein undergoes proteolytic processing to generate a soluble hormone named irisin that is secreted into the bloodstream. The expression of this gene followed by the secretion of irisin from skeletal muscle is induced by exercise. The ectopic expression of the encoded protein in mice causes an elevation of irisin in blood and improves metabolic health. [provided by RefSeq, Jul 2016]
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T C 4: 144,250,236 (GRCm39) F137L probably benign Het
Cct3 T C 3: 88,225,835 (GRCm39) probably null Het
Fermt3 A G 19: 6,980,850 (GRCm39) F294L probably damaging Het
Fmn2 A T 1: 174,440,101 (GRCm39) K58* probably null Het
Gle1 C T 2: 29,839,277 (GRCm39) A523V probably damaging Het
Hoxd11 C T 2: 74,512,921 (GRCm39) A62V possibly damaging Het
Il23r A G 6: 67,455,937 (GRCm39) V177A possibly damaging Het
Impdh2 G A 9: 108,440,386 (GRCm39) R224Q probably damaging Het
Larp4b A G 13: 9,216,362 (GRCm39) T516A possibly damaging Het
Mtmr2 T C 9: 13,714,748 (GRCm39) Y431H probably benign Het
N4bp1 T C 8: 87,571,515 (GRCm39) T828A probably benign Het
Nphp4 G A 4: 152,573,186 (GRCm39) probably null Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Pacs1 G A 19: 5,185,265 (GRCm39) P885S probably damaging Het
Scn3a T C 2: 65,336,491 (GRCm39) N705S probably benign Het
Sema4g G T 19: 44,986,696 (GRCm39) R383L probably benign Het
Slc26a10 A G 10: 127,009,217 (GRCm39) L648P probably damaging Het
St8sia2 A T 7: 73,621,783 (GRCm39) V37E probably benign Het
Tmem209 C G 6: 30,508,789 (GRCm39) V6L probably benign Het
Tmprss11a T A 5: 86,559,784 (GRCm39) probably null Het
Ube2o C T 11: 116,432,408 (GRCm39) D853N probably damaging Het
Usp17lb G A 7: 104,491,695 (GRCm39) S6F probably damaging Het
Vmn2r74 G A 7: 85,610,545 (GRCm39) T49I possibly damaging Het
Zfp236 T A 18: 82,646,291 (GRCm39) T1041S probably benign Het
Other mutations in Fndc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02656:Fndc5 APN 4 129,033,239 (GRCm39) missense probably damaging 1.00
IGL03336:Fndc5 APN 4 129,033,711 (GRCm39) missense probably benign 0.00
N/A - 287:Fndc5 UTSW 4 129,033,142 (GRCm39) missense probably damaging 1.00
R0645:Fndc5 UTSW 4 129,033,630 (GRCm39) splice site probably benign
R3962:Fndc5 UTSW 4 129,033,688 (GRCm39) missense probably benign 0.23
R4408:Fndc5 UTSW 4 129,036,322 (GRCm39) splice site probably null
R5379:Fndc5 UTSW 4 129,035,887 (GRCm39) missense probably damaging 1.00
R5539:Fndc5 UTSW 4 129,032,514 (GRCm39) missense probably damaging 1.00
R6242:Fndc5 UTSW 4 129,033,688 (GRCm39) missense probably benign 0.23
R6951:Fndc5 UTSW 4 129,032,573 (GRCm39) missense possibly damaging 0.77
R7027:Fndc5 UTSW 4 129,033,316 (GRCm39) missense probably benign 0.00
R7112:Fndc5 UTSW 4 129,035,915 (GRCm39) missense probably benign 0.09
R8254:Fndc5 UTSW 4 129,032,514 (GRCm39) missense possibly damaging 0.86
R8947:Fndc5 UTSW 4 129,030,929 (GRCm39) missense probably benign 0.04
RF014:Fndc5 UTSW 4 129,035,960 (GRCm39) missense probably benign 0.00
Z31818:Fndc5 UTSW 4 129,033,142 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTTCAAGTCCAAGGTCAGCCAG -3'
(R):5'- GGGCCGAAATCAACCCTTCTTCATC -3'

Sequencing Primer
(F):5'- cactctgacccctctgaac -3'
(R):5'- GAAATCAACCCTTCTTCATCTCTCG -3'
Posted On 2014-01-15