Incidental Mutation 'R5227:Fkrp'
ID 402675
Institutional Source Beutler Lab
Gene Symbol Fkrp
Ensembl Gene ENSMUSG00000048920
Gene Name fukutin related protein
Synonyms LGMD1I, MDC1C, A830029B19Rik
MMRRC Submission 042800-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5227 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 16543192-16550657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16544635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 409 (E409G)
Ref Sequence ENSEMBL: ENSMUSP00000059091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061390] [ENSMUST00000206259]
AlphaFold Q8CG64
Predicted Effect possibly damaging
Transcript: ENSMUST00000061390
AA Change: E409G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000059091
Gene: ENSMUSG00000048920
AA Change: E409G

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 noncoding transcript
Transcript: ENSMUST00000205368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205677
Predicted Effect probably benign
Transcript: ENSMUST00000206259
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.2%
  • 20x: 97.2%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 84,999,249 (GRCm39) L115P probably damaging Het
Adgrb3 A C 1: 25,133,033 (GRCm39) M481R possibly damaging Het
Adgrd1 C A 5: 129,199,647 (GRCm39) N161K probably benign Het
Alx4 T A 2: 93,507,725 (GRCm39) V340D probably damaging Het
Arid1a A G 4: 133,407,716 (GRCm39) S2264P unknown Het
Azi2 A T 9: 117,876,526 (GRCm39) H14L probably damaging Het
Camsap2 A G 1: 136,202,629 (GRCm39) probably benign Het
Ccpg1 T A 9: 72,919,354 (GRCm39) L323* probably null Het
Cpsf1 A T 15: 76,483,148 (GRCm39) I943N probably damaging Het
Crebrf T A 17: 26,978,739 (GRCm39) Y476N probably damaging Het
Defb10 T A 8: 22,351,894 (GRCm39) Y46* probably null Het
Dock3 A G 9: 106,863,269 (GRCm39) L703P probably damaging Het
Ebf2 A T 14: 67,484,518 (GRCm39) I181F probably damaging Het
Eif3e T A 15: 43,114,917 (GRCm39) M420L probably benign Het
Emilin3 T A 2: 160,751,185 (GRCm39) Q188L probably damaging Het
Fbxl4 C T 4: 22,376,840 (GRCm39) T92M probably damaging Het
Fer1l6 C T 15: 58,453,752 (GRCm39) Q687* probably null Het
Fzd9 T C 5: 135,278,460 (GRCm39) D475G probably benign Het
Gabbr1 C T 17: 37,380,958 (GRCm39) T767I possibly damaging Het
Gdf2 G A 14: 33,663,451 (GRCm39) probably null Het
Gpatch1 T C 7: 35,008,776 (GRCm39) N82D probably benign Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Ireb2 T A 9: 54,803,885 (GRCm39) probably null Het
Kansl1 T G 11: 104,247,640 (GRCm39) H570P probably benign Het
Kcna10 T G 3: 107,101,744 (GRCm39) M125R probably damaging Het
Lrp1b T G 2: 40,741,805 (GRCm39) I3041L possibly damaging Het
Mbtd1 T C 11: 93,815,474 (GRCm39) F354S possibly damaging Het
Mideas A T 12: 84,199,661 (GRCm39) F1020I probably benign Het
Mov10 T C 3: 104,709,894 (GRCm39) T331A probably benign Het
Ms4a8a A T 19: 11,045,780 (GRCm39) S243T probably damaging Het
Ndufa11 T C 17: 57,024,867 (GRCm39) S10P probably benign Het
Olfml3 A G 3: 103,643,737 (GRCm39) Y215H possibly damaging Het
Or2t45 T A 11: 58,669,705 (GRCm39) F251I possibly damaging Het
Or56b2j A G 7: 104,353,529 (GRCm39) I252V possibly damaging Het
Pclo T C 5: 14,763,574 (GRCm39) S4016P probably benign Het
Pcyox1 G C 6: 86,368,726 (GRCm39) A264G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pnisr A G 4: 21,874,587 (GRCm39) probably benign Het
Prc1 T C 7: 79,962,927 (GRCm39) S574P probably damaging Het
Ranbp3l T A 15: 9,037,186 (GRCm39) V16D probably damaging Het
Rfx1 T C 8: 84,800,687 (GRCm39) V96A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfmbt1 T C 14: 30,537,211 (GRCm39) probably null Het
Siglecf T C 7: 43,001,364 (GRCm39) Y111H probably damaging Het
Snx14 G A 9: 88,280,347 (GRCm39) T536I possibly damaging Het
Spindoc A G 19: 7,351,512 (GRCm39) V204A probably benign Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Swt1 G A 1: 151,278,727 (GRCm39) Q227* probably null Het
Tg A G 15: 66,631,416 (GRCm39) I562V possibly damaging Het
Trip11 T A 12: 101,851,179 (GRCm39) I677F probably damaging Het
Vmn1r49 G A 6: 90,049,753 (GRCm39) T83I probably benign Het
Vmn1r90 T C 7: 14,295,601 (GRCm39) K166E possibly damaging Het
Vmn2r124 T C 17: 18,269,819 (GRCm39) I25T possibly damaging Het
Vps13d A T 4: 144,907,777 (GRCm39) probably null Het
Zfp106 T C 2: 120,354,449 (GRCm39) I170V 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
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
R9054:Fkrp UTSW 7 16,544,569 (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'- TACTCCGGGTTCTCGATGAC -3'
(R):5'- TTTGGCTGCAGCAAGGAGAG -3'

Sequencing Primer
(F):5'- AACTTCAGCTCCAGGAAGCGG -3'
(R):5'- ACCCGCCTACCTGTATGAG -3'
Posted On 2016-07-22