Incidental Mutation 'R5222:Pmel'
ID 402373
Institutional Source Beutler Lab
Gene Symbol Pmel
Ensembl Gene ENSMUSG00000025359
Gene Name premelanosome protein
Synonyms D10H12S53E, gp87, Si, gp100, Pmel17, D12S53Eh
MMRRC Submission 042795-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5222 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128540064-128556107 bp(+) (GRCm39)
Type of Mutation splice site (3628 bp from exon)
DNA Base Change (assembly) A to G at 128554853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151621 (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 probably benign
Transcript: ENSMUST00000054125
AA Change: H582R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000051869
Gene: ENSMUSG00000025359
AA Change: H582R

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 null
Transcript: ENSMUST00000217836
Predicted Effect probably null
Transcript: ENSMUST00000219157
Predicted Effect probably benign
Transcript: ENSMUST00000219834
Meta Mutation Damage Score 0.3959 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik C A 1: 159,872,178 (GRCm39) noncoding transcript Het
Acad11 G A 9: 103,974,576 (GRCm39) A515T probably damaging Het
Angpt1 T C 15: 42,539,730 (GRCm39) Y43C probably damaging Het
Arhgef33 A G 17: 80,644,743 (GRCm39) Y24C probably damaging Het
Cd40 G C 2: 164,908,464 (GRCm39) S180T probably benign Het
Cenpc1 A T 5: 86,185,606 (GRCm39) S302T possibly damaging Het
Cit C A 5: 116,090,602 (GRCm39) T932K probably benign Het
Col19a1 A C 1: 24,598,721 (GRCm39) probably null Het
Dapk3 A G 10: 81,028,294 (GRCm39) E288G probably damaging Het
Ddx60 T C 8: 62,437,192 (GRCm39) F1002S probably damaging Het
Dgke G T 11: 88,941,220 (GRCm39) T321K probably benign Het
Ebf2 T G 14: 67,551,043 (GRCm39) probably benign Het
Enpp7 A G 11: 118,881,788 (GRCm39) D311G probably benign Het
Epm2a A G 10: 11,324,493 (GRCm39) E194G probably damaging Het
Esf1 A G 2: 140,000,503 (GRCm39) Y428H possibly damaging Het
Esyt2 T C 12: 116,282,446 (GRCm39) F132S probably damaging Het
Gm5455 T C 13: 110,441,494 (GRCm39) noncoding transcript Het
Gria1 T A 11: 57,080,623 (GRCm39) V202E probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mark1 A T 1: 184,660,288 (GRCm39) F123I probably damaging Het
Nectin4 T A 1: 171,212,825 (GRCm39) probably null Het
Obscn T A 11: 58,934,971 (GRCm39) T5220S possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2l13 A C 16: 19,305,680 (GRCm39) I31L probably benign Het
Or2p2 T A 13: 21,256,739 (GRCm39) H244L probably damaging Het
Pdcd1 A T 1: 93,980,175 (GRCm39) V14E probably damaging Het
Pramel28 T A 4: 143,691,362 (GRCm39) I454F possibly damaging Het
Prrx1 C T 1: 163,089,542 (GRCm39) R95Q probably damaging Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Ptprq A G 10: 107,498,425 (GRCm39) I884T probably damaging Het
Rad17 G A 13: 100,770,399 (GRCm39) T216I possibly damaging Het
Rif1 T C 2: 51,967,032 (GRCm39) I107T probably benign Het
Rpp14 T C 14: 8,087,513 (GRCm38) L69P probably damaging Het
Rtel1 G T 2: 180,988,776 (GRCm39) probably benign Het
Sap130 C T 18: 31,799,756 (GRCm39) T362M probably damaging Het
Scn11a A G 9: 119,644,268 (GRCm39) probably null Het
Sec31a G T 5: 100,530,754 (GRCm39) T243N probably benign Het
Slc5a9 T A 4: 111,755,808 (GRCm39) H30L possibly damaging Het
Slco6b1 T A 1: 96,925,216 (GRCm39) noncoding transcript Het
Smarca4 A G 9: 21,567,002 (GRCm39) D694G probably benign Het
Spaca6 A G 17: 18,058,367 (GRCm39) T213A probably benign Het
Tagap C A 17: 8,152,473 (GRCm39) Q553K possibly damaging Het
Tagap A T 17: 8,152,474 (GRCm39) Q553L possibly damaging Het
Tcf7l2 A G 19: 55,887,044 (GRCm39) Q19R probably benign Het
Ttn A G 2: 76,709,197 (GRCm39) probably benign Het
Ubr7 A T 12: 102,741,964 (GRCm39) R399S probably benign Het
Uspl1 C A 5: 149,150,911 (GRCm39) Q690K possibly damaging Het
Vps8 T A 16: 21,400,298 (GRCm39) Y853* probably null Het
Vrk3 A T 7: 44,409,220 (GRCm39) Q129L possibly damaging Het
Wapl T A 14: 34,458,642 (GRCm39) C901* 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
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'- CAATGTGTCTTTGGCTGACGC -3'
(R):5'- CTTCTCAAAGGCACCACAGG -3'

Sequencing Primer
(F):5'- GCCAGCACCCAACTTGTTG -3'
(R):5'- AGGAAGCCTGCAGCCCAG -3'
Posted On 2016-07-22