Incidental Mutation 'R5566:Fkrp'
ID 436816
Institutional Source Beutler Lab
Gene Symbol Fkrp
Ensembl Gene ENSMUSG00000048920
Gene Name fukutin related protein
Synonyms A830029B19Rik, MDC1C, LGMD1I
MMRRC Submission 043123-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5566 (G1)
Quality Score 154
Status Not validated
Chromosome 7
Chromosomal Location 16809246-16816732 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 16810924 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 338 (V338M)
Ref Sequence ENSEMBL: ENSMUSP00000059091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019220] [ENSMUST00000061390] [ENSMUST00000206259]
AlphaFold Q8CG64
Predicted Effect probably benign
Transcript: ENSMUST00000019220
SMART Domains Protein: ENSMUSP00000019220
Gene: ENSMUSG00000030374

low complexity region 6 16 N/A INTRINSIC
low complexity region 21 60 N/A INTRINSIC
Pfam:Striatin 64 193 1.2e-44 PFAM
low complexity region 217 236 N/A INTRINSIC
low complexity region 272 284 N/A INTRINSIC
low complexity region 304 314 N/A INTRINSIC
low complexity region 367 382 N/A INTRINSIC
low complexity region 416 429 N/A INTRINSIC
WD40 434 473 5.72e-9 SMART
WD40 487 526 6.53e-4 SMART
WD40 540 579 6.99e-13 SMART
WD40 584 626 2.38e1 SMART
WD40 629 672 3.55e1 SMART
WD40 675 714 5.34e-9 SMART
WD40 717 760 1.58e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000061390
AA Change: V338M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059091
Gene: ENSMUSG00000048920
AA Change: V338M

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik T C 18: 12,180,692 (GRCm38) I26T possibly damaging Het
Abca13 T A 11: 9,294,615 (GRCm38) Y2159* probably null Het
Abca3 A G 17: 24,383,927 (GRCm38) T499A probably benign Het
Abcb5 T A 12: 118,935,967 (GRCm38) T322S probably damaging Het
Adamts4 T A 1: 171,250,850 (GRCm38) M1K probably null Het
Adamtsl4 C T 3: 95,685,455 (GRCm38) probably null Het
Adh4 A T 3: 138,424,189 (GRCm38) I259F probably damaging Het
Aff3 G A 1: 38,181,424 (GRCm38) S1135F probably damaging Het
Arhgef16 T C 4: 154,285,648 (GRCm38) D280G probably benign Het
Baiap3 T C 17: 25,251,733 (GRCm38) E71G probably damaging Het
BC030867 T A 11: 102,255,833 (GRCm38) S312T probably damaging Het
Calb2 A G 8: 110,152,700 (GRCm38) I91T possibly damaging Het
Ccr5 A G 9: 124,124,660 (GRCm38) N100S probably benign Het
Cep57 G T 9: 13,821,575 (GRCm38) R25S probably damaging Het
Chadl A G 15: 81,695,878 (GRCm38) L52P probably damaging Het
Clec12b T C 6: 129,385,475 (GRCm38) T6A probably damaging Het
Cnga1 T A 5: 72,618,250 (GRCm38) N43Y probably damaging Het
Col20a1 A T 2: 180,986,523 (GRCm38) probably null Het
Csmd2 T C 4: 128,462,889 (GRCm38) probably null Het
Ctps A T 4: 120,554,103 (GRCm38) probably null Het
Cyp39a1 T A 17: 43,685,208 (GRCm38) W224R possibly damaging Het
Defb29 A T 2: 152,538,928 (GRCm38) Y54N probably benign Het
Dmbt1 A T 7: 131,106,273 (GRCm38) D1241V probably damaging Het
Dnah1 A T 14: 31,274,366 (GRCm38) I2671K probably benign Het
Dnah2 C A 11: 69,516,569 (GRCm38) E158* probably null Het
Edar A G 10: 58,628,641 (GRCm38) S59P possibly damaging Het
Egr2 T A 10: 67,540,766 (GRCm38) C339* probably null Het
Eif5b G A 1: 38,051,247 (GRCm38) G1169E probably damaging Het
Eif5b G A 1: 38,045,684 (GRCm38) V871I possibly damaging Het
Erap1 A G 13: 74,662,412 (GRCm38) Y290C probably damaging Het
Fastkd5 T A 2: 130,614,301 (GRCm38) T790S possibly damaging Het
Gabra6 T C 11: 42,307,490 (GRCm38) T378A probably benign Het
Gm4924 C A 10: 82,378,641 (GRCm38) Q17K possibly damaging Het
Gm9847 A G 12: 14,494,999 (GRCm38) noncoding transcript Het
Gpr108 A G 17: 57,236,919 (GRCm38) F429S probably damaging Het
Gpr162 G A 6: 124,860,938 (GRCm38) R250* probably null Het
Gtf2a1 A T 12: 91,567,594 (GRCm38) D295E possibly damaging Het
Gtf2h3 C T 5: 124,584,297 (GRCm38) T121I probably benign Het
Herc1 T A 9: 66,465,537 (GRCm38) M3125K possibly damaging Het
Hoxb6 T A 11: 96,300,754 (GRCm38) Y167* probably null Het
Htt T C 5: 34,849,075 (GRCm38) Y1443H probably damaging Het
Il21r A G 7: 125,625,298 (GRCm38) D28G probably damaging Het
Impact T G 18: 12,974,762 (GRCm38) V29G probably damaging Het
Itpr3 A G 17: 27,115,952 (GRCm38) T2147A possibly damaging Het
Itsn2 T A 12: 4,626,554 (GRCm38) L50Q probably damaging Het
Jade1 A G 3: 41,604,903 (GRCm38) D473G possibly damaging Het
Kif26a T G 12: 112,157,354 (GRCm38) L131R probably damaging Het
Kif2a A T 13: 106,993,924 (GRCm38) M1K probably null Het
Lrsam1 C A 2: 32,941,858 (GRCm38) Q368H probably damaging Het
Macf1 T C 4: 123,435,164 (GRCm38) Q4592R probably damaging Het
Map3k5 T C 10: 20,110,719 (GRCm38) V893A probably damaging Het
Med13l G T 5: 118,728,665 (GRCm38) V595F possibly damaging Het
Mocs1 T A 17: 49,454,183 (GRCm38) L435Q possibly damaging Het
Mtmr4 T C 11: 87,604,530 (GRCm38) L471P probably damaging Het
Myo7a T C 7: 98,064,816 (GRCm38) E1616G possibly damaging Het
Nacad T A 11: 6,602,136 (GRCm38) S352C probably damaging Het
Nfat5 T A 8: 107,369,135 (GRCm38) M817K possibly damaging Het
Ofcc1 C A 13: 40,094,653 (GRCm38) L668F probably damaging Het
Olfr1062 G A 2: 86,423,377 (GRCm38) Q100* probably null Het
Olfr18 T C 9: 20,313,969 (GRCm38) Q309R probably benign Het
Olfr527 C A 7: 140,336,067 (GRCm38) D68E probably damaging Het
Plxnb2 T C 15: 89,164,020 (GRCm38) T696A probably benign Het
Prkab2 T A 3: 97,662,293 (GRCm38) F58L probably benign Het
Prpf4 G T 4: 62,415,969 (GRCm38) L220F probably benign Het
Rad18 A T 6: 112,681,346 (GRCm38) D199E probably benign Het
Raet1e T C 10: 22,174,405 (GRCm38) L29P probably damaging Het
Ralgapb A C 2: 158,494,710 (GRCm38) T1089P possibly damaging Het
Rest A G 5: 77,282,326 (GRCm38) E864G probably benign Het
Rgsl1 T A 1: 153,793,774 (GRCm38) I289F probably damaging Het
Rint1 T C 5: 23,810,953 (GRCm38) Y406H probably damaging Het
Rpl31 C T 1: 39,370,027 (GRCm38) R41C probably benign Het
Scn8a T C 15: 100,974,534 (GRCm38) S485P probably damaging Het
Slamf1 T A 1: 171,787,970 (GRCm38) V249E possibly damaging Het
Slc39a12 C T 2: 14,407,603 (GRCm38) T362I possibly damaging Het
Sos1 C T 17: 80,453,890 (GRCm38) V126I possibly damaging Het
Srcap T C 7: 127,525,303 (GRCm38) F215S probably damaging Het
Supt4a T A 11: 87,743,287 (GRCm38) S110T probably benign Het
Tbc1d30 T A 10: 121,302,110 (GRCm38) T232S probably damaging Het
Tctex1d2 A G 16: 32,419,900 (GRCm38) Y31C probably damaging Het
Tenm3 A G 8: 48,279,006 (GRCm38) C1288R probably damaging Het
Tespa1 T A 10: 130,355,487 (GRCm38) L100* probably null Het
Tgm1 C A 14: 55,712,436 (GRCm38) R105L probably damaging Het
Tgoln1 G A 6: 72,616,035 (GRCm38) T154I possibly damaging Het
Trp53i13 G A 11: 77,508,726 (GRCm38) T259I probably damaging Het
Tubgcp4 T A 2: 121,184,770 (GRCm38) F320I possibly damaging Het
Vmn1r21 A C 6: 57,844,094 (GRCm38) Y122D probably benign Het
Vmn1r75 T A 7: 11,880,480 (GRCm38) D46E probably damaging Het
Vmn2r120 A T 17: 57,545,290 (GRCm38) L9M possibly damaging Het
Vmn2r59 A G 7: 42,046,823 (GRCm38) I165T possibly damaging Het
Vmn2r76 A T 7: 86,226,078 (GRCm38) Y564N probably damaging Het
Wee1 G T 7: 110,126,050 (GRCm38) E300* probably null Het
Xdh T C 17: 73,893,622 (GRCm38) D1168G probably damaging Het
Zcchc6 A T 13: 59,788,629 (GRCm38) C817* probably null Het
Zfp54 A G 17: 21,433,444 (GRCm38) T67A probably damaging Het
Zfp941 G T 7: 140,812,766 (GRCm38) H227N probably benign Het
Zpr1 T A 9: 46,281,075 (GRCm38) V399D possibly damaging Het
Zzz3 A G 3: 152,455,824 (GRCm38) E285G probably damaging Het
Other mutations in Fkrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Fkrp APN 7 16,811,490 (GRCm38) missense probably benign 0.02
R1177:Fkrp UTSW 7 16,810,527 (GRCm38) missense probably damaging 1.00
R1722:Fkrp UTSW 7 16,810,794 (GRCm38) missense probably benign 0.20
R1984:Fkrp UTSW 7 16,811,877 (GRCm38) missense probably benign 0.11
R2519:Fkrp UTSW 7 16,810,952 (GRCm38) nonsense probably null
R5227:Fkrp UTSW 7 16,810,710 (GRCm38) missense possibly damaging 0.95
R6513:Fkrp UTSW 7 16,811,112 (GRCm38) missense possibly damaging 0.90
R6939:Fkrp UTSW 7 16,811,826 (GRCm38) missense probably benign 0.00
R8861:Fkrp UTSW 7 16,810,824 (GRCm38) missense probably damaging 1.00
R9054:Fkrp UTSW 7 16,810,644 (GRCm38) missense probably damaging 1.00
R9718:Fkrp UTSW 7 16,811,187 (GRCm38) missense probably benign 0.26
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-24