Incidental Mutation 'R0944:Pmel'
ID 82015
Institutional Source Beutler Lab
Gene Symbol Pmel
Ensembl Gene ENSMUSG00000025359
Gene Name premelanosome protein
Synonyms D10H12S53E, gp87, Si, gp100, Pmel17, D12S53Eh
MMRRC Submission 039083-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0944 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128540064-128556107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128551126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 123 (Q123L)
Ref Sequence ENSEMBL: ENSMUSP00000051869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026414] [ENSMUST00000054125] [ENSMUST00000217836] [ENSMUST00000219157] [ENSMUST00000219834]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026414
SMART Domains Protein: ENSMUSP00000026414
Gene: ENSMUSG00000025357

DomainStartEndE-ValueType
Pfam:DAG_kinase_N 4 93 6.9e-31 PFAM
EFh 115 143 3.82e0 SMART
EFh 160 188 1.29e-4 SMART
C1 207 254 2.29e-10 SMART
C1 269 320 6.91e-5 SMART
DAGKc 372 495 3.11e-62 SMART
DAGKa 515 696 4.1e-103 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000054125
AA Change: Q123L

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000051869
Gene: ENSMUSG00000025359
AA Change: Q123L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 132 144 N/A INTRINSIC
PKD 228 310 3.17e-7 SMART
low complexity region 326 348 N/A INTRINSIC
low complexity region 377 396 N/A INTRINSIC
transmembrane domain 559 581 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217836
AA Change: Q123L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219157
AA Change: Q123L

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000219834
Meta Mutation Damage Score 0.0746 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.3%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
MGI Phenotype 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
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110018I06Rik G A 12: 107,455,268 (GRCm39) R118K unknown Het
Abcc6 T A 7: 45,664,929 (GRCm39) I301F possibly damaging Het
Akap9 C A 5: 4,114,742 (GRCm39) probably null Het
Alg6 A G 4: 99,650,297 (GRCm39) I506V probably benign Het
B3gat1 C T 9: 26,668,237 (GRCm39) R276C probably damaging Het
Camk1 A G 6: 113,315,352 (GRCm39) Y105H probably damaging Het
Ccdc81 T C 7: 89,515,777 (GRCm39) N634S probably damaging Het
Clcn1 C A 6: 42,290,075 (GRCm39) Q837K probably benign Het
Clec16a A G 16: 10,506,510 (GRCm39) probably benign Het
Col22a1 T C 15: 71,753,511 (GRCm39) I130V probably benign Het
Coro2b T C 9: 62,335,263 (GRCm39) S308G probably benign Het
Cpxm1 A G 2: 130,239,423 (GRCm39) W2R probably damaging Het
Csmd3 T C 15: 47,475,227 (GRCm39) N3364S probably damaging Het
Dgkq A G 5: 108,804,331 (GRCm39) V131A probably damaging Het
Dnai1 A G 4: 41,629,997 (GRCm39) S469G probably benign Het
Efcab3 T G 11: 104,601,556 (GRCm39) probably null Het
Eml4 G A 17: 83,785,489 (GRCm39) E885K probably benign Het
Etfa A T 9: 55,396,122 (GRCm39) I148N probably damaging Het
Gpbar1 A G 1: 74,318,681 (GRCm39) D308G probably benign Het
Gprin3 T C 6: 59,330,900 (GRCm39) E469G possibly damaging Het
Igkv1-115 T C 6: 68,138,667 (GRCm39) V90A probably damaging Het
Ints2 A G 11: 86,135,289 (GRCm39) V375A possibly damaging Het
Mindy3 T C 2: 12,400,993 (GRCm39) M242V possibly damaging Het
Or11m3 A G 15: 98,395,565 (GRCm39) I71V probably benign Het
Or1n1b T C 2: 36,780,698 (GRCm39) H54R probably damaging Het
Or5t9 A C 2: 86,659,281 (GRCm39) I62L probably benign Het
P3h1 G A 4: 119,095,956 (GRCm39) E355K probably benign Het
Paxbp1 T C 16: 90,820,315 (GRCm39) T703A probably benign Het
Pcdh15 A T 10: 74,046,302 (GRCm39) Y193F probably damaging Het
Pdxdc1 A G 16: 13,656,233 (GRCm39) V613A probably damaging Het
Plekha5 T C 6: 140,515,922 (GRCm39) probably benign Het
Prl6a1 T C 13: 27,502,149 (GRCm39) probably benign Het
Rcan1 T C 16: 92,190,379 (GRCm39) T187A probably damaging Het
Rp1l1 A G 14: 64,269,681 (GRCm39) S1756G probably benign Het
Runx2 A T 17: 44,919,123 (GRCm39) M405K probably damaging Het
Serinc5 T C 13: 92,797,613 (GRCm39) Y39H probably damaging Het
Sgsm1 G A 5: 113,413,740 (GRCm39) T676I probably benign Het
Slc6a15 G C 10: 103,245,657 (GRCm39) V547L probably benign Het
Slk T C 19: 47,597,432 (GRCm39) I80T probably damaging Het
Spice1 A G 16: 44,205,124 (GRCm39) N810S probably benign Het
Spred2 A G 11: 19,951,104 (GRCm39) probably benign Het
Tbc1d4 C G 14: 101,716,656 (GRCm39) probably benign Het
Tdrd7 G A 4: 46,029,762 (GRCm39) V1032M probably benign Het
Tlr11 A G 14: 50,599,793 (GRCm39) N593S probably benign Het
Trpa1 T C 1: 14,982,585 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp25 T C 16: 76,878,335 (GRCm39) probably benign Het
Vmn2r97 T A 17: 19,167,665 (GRCm39) S640T probably benign Het
Zc3h6 A G 2: 128,848,736 (GRCm39) Y321C probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Other mutations in Pmel
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Pmel APN 10 128,551,958 (GRCm39) missense possibly damaging 0.83
IGL01788:Pmel APN 10 128,553,701 (GRCm39) missense probably damaging 1.00
IGL03205:Pmel APN 10 128,552,317 (GRCm39) missense probably benign 0.05
R0288:Pmel UTSW 10 128,550,175 (GRCm39) missense probably benign
R1220:Pmel UTSW 10 128,549,929 (GRCm39) missense probably benign 0.01
R1429:Pmel UTSW 10 128,554,861 (GRCm39) splice site probably null
R5222:Pmel UTSW 10 128,554,853 (GRCm39) splice site probably null
R5689:Pmel UTSW 10 128,552,170 (GRCm39) missense probably damaging 1.00
R5767:Pmel UTSW 10 128,550,250 (GRCm39) missense probably damaging 0.99
R6145:Pmel UTSW 10 128,551,804 (GRCm39) missense probably damaging 1.00
R7287:Pmel UTSW 10 128,551,095 (GRCm39) nonsense probably null
R7410:Pmel UTSW 10 128,552,353 (GRCm39) missense probably benign 0.22
R7978:Pmel UTSW 10 128,551,819 (GRCm39) missense probably damaging 1.00
R9053:Pmel UTSW 10 128,551,918 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAGTTGTGGTGTCCATAAATCCCCG -3'
(R):5'- TGAAGGTTGAACTGGCGTGAGC -3'

Sequencing Primer
(F):5'- TGCCATCTTACATGGGTTATAGTATG -3'
(R):5'- TGGTAGACAGTCACTTCCATTG -3'
Posted On 2013-11-08