|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family C (CFTR/MRP), member 8|
|Synonyms||D930031B21Rik, SUR1, Sur|
|Is this an essential gene?||Possibly essential (E-score: 0.541)|
|Stock #||R4975 (G1)|
|Chromosomal Location||46104523-46180033 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 46150867 bp|
|Amino Acid Change||Lysine to Arginine at position 497 (K497R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033123 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033123]|
|Predicted Effect||probably damaging
AA Change: K497R
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: K497R
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.144|
|Coding Region Coverage||
|Validation Efficiency||100% (81/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abcc8||
(F):5'- AGTCTGCCAGCACAGTCAAG -3'
(R):5'- AACAGTCTGGCCATAAACATGC -3'
(F):5'- AGTCAAGGGGCCTCTATTCTGTAAC -3'
(R):5'- CAGTCTGGCCATAAACATGCTTGTG -3'