|Institutional Source||Beutler Lab|
|Gene Name||insulin-like growth factor 2 receptor|
|Synonyms||M6P/IGF2R, IGF-II/CI-MPR, Mpr300, CI-MPR, CD222, mannose-6-phosphate receptor, cation independent|
|Is this an essential gene?||Probably essential (E-score: 0.895)|
|Stock #||R7348 (G1)|
|Chromosomal Location||12682406-12769664 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 12703484 bp|
|Amino Acid Change||Tyrosine to Histidine at position 1248 (Y1248H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024599 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024599]|
|Predicted Effect||probably damaging
AA Change: Y1248H
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: Y1248H
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.5681|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]
PHENOTYPE: Mutants inheriting maternally a targeted disruption of this gene exhibit elevated serum and tissue IGF-II levels, overgrowth, organomegaly, kinky tail, polydactyly, heart defects, edema, dyspnea, imperforate vagina, reduced fertility and perinatal death.Survival is influenced by genetic background. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Igf2r||
(F):5'- GTCCTTGGCGTCACATCTTG -3'
(R):5'- GATAGCCATTGCCTGACTAAAAC -3'
(F):5'- CTTGACGTGTTACAGCTGAAGAC -3'
(R):5'- TAACCTCAGCTTTGCAGGAG -3'