|Institutional Source||Beutler Lab|
|Gene Name||leucine-rich PPR-motif containing|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6807 (G1)|
|Chromosomal Location||84705247-84790789 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 84749103 bp|
|Amino Acid Change||Serine to Proline at position 787 (S787P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000107927 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000112308]|
|Predicted Effect||possibly damaging
AA Change: S787P
PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: S787P
|Meta Mutation Damage Score||0.5556|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
|MGI Phenotype||Strain: 3857306; 5438913
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality during organogenesis associated with growth retardation. Mice homozygous for a knock-out allele exhibit embryonic lethality between somite formation and embryo turning. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lrpprc||
(F):5'- TCAAGGGTTCTAATCACCAGAG -3'
(R):5'- CTCGAAATCGGCATTATACACTAG -3'
(F):5'- TCACCAGAGTATTTGCAGAGC -3'
(R):5'- AGAATTTACATTCCTGCTGGGC -3'