Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Pmel'

488824

Institutional Source

Beutler Lab

Gene Symbol

Pmel

Ensembl Gene

ENSMUSG00000025359

Gene Name

premelanosome protein

Synonyms

D10H12S53E, gp87, Si, gp100, Pmel17, D12S53Eh

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128540064-128556107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128551804 bp (GRCm39)

Zygosity

Heterozygous

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026414

SMART Domains

Protein: ENSMUSP00000026414
Gene: ENSMUSG00000025357

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000054125
AA Change: P213T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051869
Gene: ENSMUSG00000025359
AA Change: P213T

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably benign
Transcript: ENSMUST00000219157

Predicted Effect

probably benign
Transcript: ENSMUST00000219834

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 85,980,664 (GRCm39)		probably null	Het
Abca8b	A	G	11: 109,864,634 (GRCm39)	V316A	probably benign	Het
Acad10	A	T	5: 121,760,096 (GRCm39)	V999D	probably damaging	Het
Acot8	A	G	2: 164,644,985 (GRCm39)	V66A	probably benign	Het
Ankrd11	T	C	8: 123,619,400 (GRCm39)	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,885,730 (GRCm39)	F405S	probably damaging	Het
Asmt	G	A	X: 169,108,398 (GRCm39)	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,114,805 (GRCm39)	V327I	probably damaging	Het
Brdt	A	G	5: 107,525,865 (GRCm39)	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,353,087 (GRCm39)	C313S	probably damaging	Het
Camk2d	T	C	3: 126,599,507 (GRCm39)	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794 (GRCm39)	H58L	probably damaging	Het
Ccdc78	C	A	17: 26,008,039 (GRCm39)	P317T	probably benign	Het
Cdc16	T	G	8: 13,817,573 (GRCm39)	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 117,321,717 (GRCm39)	N270I	probably damaging	Het
Cfap221	T	A	1: 119,912,546 (GRCm39)	I114F	possibly damaging	Het
Dmxl1	A	G	18: 50,045,833 (GRCm39)	E2414G	possibly damaging	Het
Dnaaf9	T	C	2: 130,620,393 (GRCm39)	I247V	probably benign	Het
Dnah1	C	A	14: 31,022,927 (GRCm39)	R1070L	probably benign	Het
Dnah14	T	C	1: 181,493,982 (GRCm39)	S1713P	probably benign	Het
Dock10	C	A	1: 80,553,621 (GRCm39)	G602*	probably null	Het
Ep400	A	T	5: 110,904,569 (GRCm39)	V10D	possibly damaging	Het
Epas1	T	C	17: 87,136,857 (GRCm39)	C807R	probably benign	Het
Esrrb	C	T	12: 86,552,673 (GRCm39)	P200L	probably benign	Het
Fbxw26	T	C	9: 109,561,691 (GRCm39)	I168V	probably benign	Het
Fsip2	A	T	2: 82,824,112 (GRCm39)	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,788,762 (GRCm39)	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,520,438 (GRCm39)	T43P	probably damaging	Het
Gm5134	A	T	10: 75,831,673 (GRCm39)	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,270,266 (GRCm39)	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,455,765 (GRCm39)	Y216*	probably null	Het
Grm5	T	A	7: 87,675,809 (GRCm39)	M441K	probably damaging	Het
Heatr6	A	G	11: 83,656,962 (GRCm39)	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,892,391 (GRCm39)	K201N	probably damaging	Het
Igsf10	T	A	3: 59,239,077 (GRCm39)	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,685,057 (GRCm39)	D131V	probably damaging	Het
Imp4	A	G	1: 34,479,177 (GRCm39)	E19G	probably benign	Het
Kcnk18	T	C	19: 59,224,039 (GRCm39)	*395Q	probably null	Het
Kdm6b	A	T	11: 69,295,852 (GRCm39)	L805Q	unknown	Het
Lgr4	T	A	2: 109,837,588 (GRCm39)	L427*	probably null	Het
Myt1l	G	A	12: 29,882,380 (GRCm39)	S525N	unknown	Het
Nasp	G	A	4: 116,468,274 (GRCm39)	T237I	probably benign	Het
Nell2	G	T	15: 95,371,442 (GRCm39)	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,562,455 (GRCm39)	G107R	probably damaging	Het
Nsun4	A	G	4: 115,897,403 (GRCm39)	S203P	probably damaging	Het
Or1m1	T	G	9: 18,666,865 (GRCm39)	D22A	probably benign	Het
Or7g35	T	C	9: 19,496,184 (GRCm39)	V117A	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pde10a	T	C	17: 9,147,949 (GRCm39)	V366A	probably damaging	Het
Pdxk	T	A	10: 78,279,625 (GRCm39)	D250V	probably benign	Het
Pih1d1	T	A	7: 44,808,468 (GRCm39)	I179N	probably damaging	Het
Plaa	T	A	4: 94,472,229 (GRCm39)	I294F	probably damaging	Het
Pom121l2	A	T	13: 22,166,472 (GRCm39)	R248*	probably null	Het
Pou2f1	T	C	1: 165,703,002 (GRCm39)		probably benign	Het
Ppm1j	G	A	3: 104,688,695 (GRCm39)	R98H	probably damaging	Het
Prkdc	C	T	16: 15,589,937 (GRCm39)	P2600L	probably damaging	Het
Prom1	T	C	5: 44,186,991 (GRCm39)	N422S	probably benign	Het
Pspn	C	T	17: 57,306,467 (GRCm39)	C154Y	probably damaging	Het
Ptdss1	T	C	13: 67,120,701 (GRCm39)		probably null	Het
Rapgef1	A	G	2: 29,626,678 (GRCm39)	Y993C	probably damaging	Het
Scrn2	A	C	11: 96,923,679 (GRCm39)	T219P	probably benign	Het
Sec23ip	T	G	7: 128,380,208 (GRCm39)	S874R	probably damaging	Het
Septin4	G	A	11: 87,476,072 (GRCm39)		probably null	Het
Slc15a3	C	T	19: 10,834,615 (GRCm39)	L499F	probably damaging	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Sra1	A	G	18: 36,800,628 (GRCm39)	M193T	probably damaging	Het
Srsf4	G	T	4: 131,627,605 (GRCm39)		probably benign	Het
Syne1	T	C	10: 5,002,750 (GRCm39)	D8055G	probably damaging	Het
Syne4	T	A	7: 30,015,988 (GRCm39)		probably null	Het
Tbc1d24	C	A	17: 24,427,203 (GRCm39)	G253V	probably damaging	Het
Tbck	T	A	3: 132,437,976 (GRCm39)	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030 (GRCm39)	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,619,031 (GRCm39)	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,214,072 (GRCm39)	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,283,113 (GRCm39)	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,314,364 (GRCm39)	F206L	probably benign	Het
Zfp346	A	G	13: 55,263,387 (GRCm39)	K156R	probably damaging	Het

Other mutations in Pmel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5767:Pmel	UTSW	10	128,550,250 (GRCm39)	missense	probably damaging	0.99
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'- GCTTAAAGAGGAGCTAGGCC -3'
(R):5'- AGAGATCAGGGTCCCAGTAC -3'

Sequencing Primer
(F):5'- CTTAAAGAGGAGCTAGGCCAGTCG -3'
(R):5'- CCATCTCCAAAGTCCCATGTGTAGG -3'

Posted On

2017-10-10