|Institutional Source||Beutler Lab|
|Gene Name||fukutin related protein|
|Synonyms||A830029B19Rik, MDC1C, LGMD1I|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R9718 (G1)|
|Chromosomal Location||16809246-16816732 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 16811187 bp (GRCm38)|
|Amino Acid Change||Threonine to Asparagine at position 250 (T250N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059091 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019220] [ENSMUST00000061390] [ENSMUST00000206259]|
AA Change: T250N
PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: T250N
|Coding Region Coverage||
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||
|Other mutations in Fkrp||
(F):5'- CAGATCTACGTCGTAGTCCCAAG -3'
(R):5'- TAGCTCTGAACGTCAGCCTG -3'
(F):5'- TCCCAAGGGATGATGTCGC -3'
(R):5'- CGCTGCGACGCTTTGGATG -3'