|Institutional Source||Beutler Lab|
|Gene Name||premelanosome protein|
|Synonyms||Pmel17, gp100, D10H12S53E, Si, D12S53Eh, gp87|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6145 (G1)|
|Chromosomal Location||128704195-128720238 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 128715935 bp (GRCm38)|
|Amino Acid Change||Proline to Threonine at position 213 (P213T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051869 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026414] [ENSMUST00000054125] [ENSMUST00000217836] [ENSMUST00000219157] [ENSMUST00000219834]|
|AlphaFold||no structure available at present|
AA Change: P213T
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: P213T
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
PHENOTYPE: This mutation affects the viability of melanoblasts, resulting in random occurrence of white, partially white or gray hairs, and fully pigmented hairs that together display as varying intensities of silvering. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pmel||
(F):5'- GCTTAAAGAGGAGCTAGGCC -3'
(R):5'- AGAGATCAGGGTCCCAGTAC -3'
(F):5'- CTTAAAGAGGAGCTAGGCCAGTCG -3'
(R):5'- CCATCTCCAAAGTCCCATGTGTAGG -3'