Incidental Mutation 'R9054:Fkrp'
ID 688563
Institutional Source Beutler Lab
Gene Symbol Fkrp
Ensembl Gene ENSMUSG00000048920
Gene Name fukutin related protein
Synonyms LGMD1I, MDC1C, A830029B19Rik
MMRRC Submission 068880-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9054 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 16543192-16550657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 16544569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 431 (T431K)
Ref Sequence ENSEMBL: ENSMUSP00000059091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061390] [ENSMUST00000206259]
AlphaFold Q8CG64
Predicted Effect probably damaging
Transcript: ENSMUST00000061390
AA Change: T431K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059091
Gene: ENSMUSG00000048920
AA Change: T431K

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 258 276 N/A INTRINSIC
Pfam:LicD 334 374 1.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206259
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die by E10.5. Mice homozygous for a knock-in allele exhibit a progressive muscular dystrophy phenotype, abnormal brain morphology, defecting neuron migration, reduced body weight, and abnormal eye morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankef1 T A 2: 136,395,594 (GRCm39) D641E probably benign Het
Anln A G 9: 22,272,116 (GRCm39) probably null Het
Areg A T 5: 91,292,217 (GRCm39) E172D probably damaging Het
Ccdc51 A T 9: 108,918,482 (GRCm39) T24S probably benign Het
Cckar A T 5: 53,860,424 (GRCm39) I135N probably damaging Het
Cdca7 CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA CGAGGAAGAGGAGGAGGAAGAGGA 2: 72,313,821 (GRCm39) probably benign Het
Cep295 T C 9: 15,235,551 (GRCm39) H2056R possibly damaging Het
Chrnb2 T C 3: 89,664,562 (GRCm39) K451E probably damaging Het
Ctnna2 C T 6: 76,919,249 (GRCm39) R663Q probably benign Het
Cyp4f37 A T 17: 32,853,253 (GRCm39) I406F probably benign Het
Eml4 T A 17: 83,734,640 (GRCm39) probably benign Het
Fsip2 A T 2: 82,806,180 (GRCm39) Y833F possibly damaging Het
Galnt2 T C 8: 125,058,837 (GRCm39) probably null Het
Gm8180 T A 14: 44,019,806 (GRCm39) probably null Het
Hcn1 T C 13: 118,108,171 (GRCm39) S552P unknown Het
Ifit1 A C 19: 34,625,887 (GRCm39) E341A possibly damaging Het
Iyd A G 10: 3,490,250 (GRCm39) probably benign Het
Krt72 A T 15: 101,694,836 (GRCm39) S20T probably damaging Het
Lemd2 G T 17: 27,423,069 (GRCm39) D108E probably benign Het
Lipn A T 19: 34,054,376 (GRCm39) I205F possibly damaging Het
Nat1 G T 8: 67,943,723 (GRCm39) R36L probably benign Het
Nebl A T 2: 17,415,907 (GRCm39) M334K possibly damaging Het
Nectin4 A T 1: 171,214,351 (GRCm39) N502I probably damaging Het
Nrp1 G A 8: 129,214,389 (GRCm39) V626I probably benign Het
Oprm1 G A 10: 6,773,914 (GRCm39) probably benign Het
Or52w1 A G 7: 105,017,680 (GRCm39) Y49C probably damaging Het
Or8a1b C T 9: 37,623,204 (GRCm39) V124M probably damaging Het
Pde2a A G 7: 101,156,927 (GRCm39) Y637C probably damaging Het
Pde4d T C 13: 110,071,924 (GRCm39) V306A probably damaging Het
Pdzd9 G A 7: 120,269,498 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,947,017 (GRCm39) D810V probably damaging Het
Pkd1l3 A T 8: 110,392,304 (GRCm39) H1966L probably benign Het
Pmfbp1 C T 8: 110,247,661 (GRCm39) T319I possibly damaging Het
Pramel28 T C 4: 143,692,314 (GRCm39) Q229R probably benign Het
Prb1c G C 6: 132,338,856 (GRCm39) Q121E unknown Het
Psg18 T A 7: 18,087,450 (GRCm39) R69S possibly damaging Het
Ptprg A T 14: 12,213,638 (GRCm38) Q1002L possibly damaging Het
Ptprj T C 2: 90,290,984 (GRCm39) Y585C probably damaging Het
Rad51c T C 11: 87,293,542 (GRCm39) T105A probably benign Het
Rbm12 A T 2: 155,937,481 (GRCm39) D930E unknown Het
Rlf A C 4: 121,007,784 (GRCm39) S509A possibly damaging Het
Slc39a3 C A 10: 80,869,499 (GRCm39) G53C probably damaging Het
Smchd1 G A 17: 71,670,017 (GRCm39) Q1685* probably null Het
Sprr2d A C 3: 92,247,715 (GRCm39) E52A unknown Het
Stat1 A G 1: 52,182,086 (GRCm39) N355S probably damaging Het
Tmem30b T C 12: 73,592,923 (GRCm39) E64G probably benign Het
Ttll11 A T 2: 35,869,392 (GRCm39) V82D probably benign Het
Ttn T A 2: 76,570,977 (GRCm39) T26639S probably damaging Het
Usp53 A T 3: 122,727,725 (GRCm39) N952K probably benign Het
Vmn1r199 T A 13: 22,567,724 (GRCm39) H339Q possibly damaging Het
Vps13b G A 15: 35,422,537 (GRCm39) D166N probably damaging Het
Zfp954 C A 7: 7,119,097 (GRCm39) C149F probably benign Het
Other mutations in Fkrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Fkrp APN 7 16,545,415 (GRCm39) missense probably benign 0.02
R1177:Fkrp UTSW 7 16,544,452 (GRCm39) missense probably damaging 1.00
R1722:Fkrp UTSW 7 16,544,719 (GRCm39) missense probably benign 0.20
R1984:Fkrp UTSW 7 16,545,802 (GRCm39) missense probably benign 0.11
R2519:Fkrp UTSW 7 16,544,877 (GRCm39) nonsense probably null
R5227:Fkrp UTSW 7 16,544,635 (GRCm39) missense possibly damaging 0.95
R5566:Fkrp UTSW 7 16,544,849 (GRCm39) missense probably damaging 1.00
R6513:Fkrp UTSW 7 16,545,037 (GRCm39) missense possibly damaging 0.90
R6939:Fkrp UTSW 7 16,545,751 (GRCm39) missense probably benign 0.00
R8861:Fkrp UTSW 7 16,544,749 (GRCm39) missense probably damaging 1.00
R9718:Fkrp UTSW 7 16,545,112 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- TCAAGCTTAAGAGTGCGGGG -3'
(R):5'- TGGGACTACGACGTAGATCTG -3'

Sequencing Primer
(F):5'- CGGGGTTGGGGTACTCC -3'
(R):5'- TACGACGTAGATCTGGGCATCTAC -3'
Posted On 2021-11-19