Incidental Mutation 'R5767:Pmel'
ID 446340
Institutional Source Beutler Lab
Gene Symbol Pmel
Ensembl Gene ENSMUSG00000025359
Gene Name premelanosome protein
Synonyms D10H12S53E, gp87, Si, gp100, Pmel17, D12S53Eh
MMRRC Submission 043367-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5767 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128540064-128556107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128550250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 95 (V95A)
Ref Sequence ENSEMBL: ENSMUSP00000151621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054125] [ENSMUST00000217836] [ENSMUST00000219157]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000054125
AA Change: V95A

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000051869
Gene: ENSMUSG00000025359
AA Change: V95A

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 possibly damaging
Transcript: ENSMUST00000217836
AA Change: V95A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000219157
AA Change: V95A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.1824 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (52/53)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 A T 10: 89,562,617 (GRCm39) D87E probably damaging Het
AI429214 TCCCTGATGAAC TC 8: 37,461,383 (GRCm39) probably null Het
Ano3 A T 2: 110,491,616 (GRCm39) Y887N probably damaging Het
Arid4a A G 12: 71,106,867 (GRCm39) D313G probably damaging Het
Armc2 A G 10: 41,887,923 (GRCm39) V20A probably benign Het
Bltp3b A G 10: 89,623,061 (GRCm39) D312G possibly damaging Het
C2 T A 17: 35,095,432 (GRCm39) N171I possibly damaging Het
Cdh1 C A 8: 107,395,187 (GRCm39) N865K probably damaging Het
Cep89 T A 7: 35,117,070 (GRCm39) V224E probably damaging Het
Cfap251 G A 5: 123,436,584 (GRCm39) V1038I probably benign Het
Dennd2d C T 3: 106,395,131 (GRCm39) probably benign Het
Diaph1 T A 18: 37,986,408 (GRCm39) K1157N probably damaging Het
Dsg4 T A 18: 20,595,549 (GRCm39) L584* probably null Het
Exoc4 G A 6: 33,895,367 (GRCm39) A795T probably benign Het
Fbln5 A T 12: 101,731,468 (GRCm39) I242N probably damaging Het
Gls2 A G 10: 128,041,090 (GRCm39) H394R probably damaging Het
Gm27013 C T 6: 130,652,921 (GRCm39) C847Y possibly damaging Het
Ifna5 C A 4: 88,754,036 (GRCm39) T92K possibly damaging Het
Ireb2 A G 9: 54,807,800 (GRCm39) M674V probably benign Het
Itga2 C T 13: 114,976,106 (GRCm39) V1089M possibly damaging Het
Kctd16 A T 18: 40,391,922 (GRCm39) Y170F probably benign Het
Kif15 A G 9: 122,843,039 (GRCm39) N45D possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mink1 A G 11: 70,496,901 (GRCm39) K420E possibly damaging Het
Ms4a14 G T 19: 11,279,391 (GRCm39) Q1056K probably benign Het
Or11g1 T C 14: 50,651,235 (GRCm39) V78A possibly damaging Het
Or5k8 T C 16: 58,644,316 (GRCm39) Y252C probably benign Het
Or8k21 T A 2: 86,144,742 (GRCm39) E296V probably damaging Het
Ovch2 T C 7: 107,381,185 (GRCm39) E571G probably benign Het
Ptger2 G T 14: 45,226,599 (GRCm39) G60C probably benign Het
Ranbp2 T G 10: 58,312,647 (GRCm39) S1122R probably benign Het
Rasal2 T C 1: 157,003,732 (GRCm39) D309G probably damaging Het
Rcc2 T A 4: 140,443,230 (GRCm39) C303S probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpini1 C T 3: 75,520,388 (GRCm39) probably benign Het
Sgo2a G T 1: 58,058,819 (GRCm39) E1133* probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smarcc1 G A 9: 109,961,251 (GRCm39) probably benign Het
Tbcd A G 11: 121,483,518 (GRCm39) E749G probably benign Het
Tmc3 G A 7: 83,249,190 (GRCm39) A260T probably benign Het
Tnfrsf21 A G 17: 43,348,550 (GRCm39) Y54C probably damaging Het
Urb1 T A 16: 90,573,051 (GRCm39) M994L probably benign Het
Usp14 A T 18: 10,009,935 (GRCm39) probably benign Het
Vps13a T C 19: 16,641,928 (GRCm39) Y2233C probably damaging Het
Wnt2 G T 6: 17,990,027 (GRCm39) A290E probably damaging Het
Zc3h8 A T 2: 128,772,812 (GRCm39) C225* probably null 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
R0944:Pmel UTSW 10 128,551,126 (GRCm39) missense possibly damaging 0.82
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
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'- CAGGGTTAAATTTAAGCAGGTTGGG -3'
(R):5'- GCAATCTGTTGTCCTCCGA -3'

Sequencing Primer
(F):5'- TTAAATTTAAGCAGGTTGGGAGAGAG -3'
(R):5'- TGAGGCCCTAAGTTTGAACC -3'
Posted On 2016-11-21