|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 45, member 2|
|Synonyms||blanc-sale, Oca4, dominant brown, Dbr, bls, Aim1, Aim-1, Matp|
|Is this an essential gene?||Probably non essential (E-score: 0.131)|
|Stock #||R6709 (G1)|
|Chromosomal Location||11000721-11029233 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 11001130 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 105 (Y105C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112408 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070877] [ENSMUST00000117100]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: Y105C
PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: Y105C
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygotes for spontaneous mutations exhibit varied degrees of hypopigmentation of the eyes, skin, and hair, especially the underfur. Eyes are very light at birth but darken with age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc45a2||
(F):5'- CAGGGAGACTTGTCATGCACAG -3'
(R):5'- AGGTCACTGCATGCTGAGAG -3'
(F):5'- CACAGCATGGCCATGTTTG -3'
(R):5'- TCACTGCATGCTGAGAGAGAGAG -3'