Mutagenetix > Incidental Mutation

Incidental Mutation 'R7287:Pmel'

566111

Institutional Source

Beutler Lab

Gene Symbol

Pmel

Ensembl Gene

ENSMUSG00000025359

Gene Name

premelanosome protein

Synonyms

D10H12S53E, gp87, Si, gp100, Pmel17, D12S53Eh

MMRRC Submission

045321-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128540064-128556107 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 128551095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 113 (Q113*)

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 null
Transcript: ENSMUST00000054125
AA Change: Q113*

SMART Domains

Protein: ENSMUSP00000051869
Gene: ENSMUSG00000025359
AA Change: Q113*

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 null
Transcript: ENSMUST00000217836
AA Change: Q113*

Predicted Effect

probably null
Transcript: ENSMUST00000219157
AA Change: Q113*

Predicted Effect

probably benign
Transcript: ENSMUST00000219834

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,604,861 (GRCm39)	D656G	possibly damaging	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abcc8	T	C	7: 45,762,534 (GRCm39)	H1209R	probably damaging	Het
Adam26a	T	C	8: 44,023,380 (GRCm39)	T37A	possibly damaging	Het
Adamts9	C	T	6: 92,866,984 (GRCm39)	R685Q	possibly damaging	Het
Anapc7	T	A	5: 122,571,499 (GRCm39)	N191K	probably benign	Het
Ankrd26	C	T	6: 118,526,598 (GRCm39)		probably null	Het
Ap5z1	T	C	5: 142,459,802 (GRCm39)	L484P	probably damaging	Het
Arhgap32	A	G	9: 32,063,993 (GRCm39)	D77G		Het
Atp10a	T	A	7: 58,477,017 (GRCm39)	D1213E	probably damaging	Het
B3gnt8	T	C	7: 25,328,395 (GRCm39)	L275P	probably damaging	Het
Bltp2	G	A	11: 78,163,709 (GRCm39)	R1059H	possibly damaging	Het
Cab39	A	G	1: 85,746,182 (GRCm39)	E21G	probably benign	Het
Capn15	G	T	17: 26,179,429 (GRCm39)	S948R	probably damaging	Het
Cbarp	T	C	10: 79,973,154 (GRCm39)	T15A	unknown	Het
Ccdc81	C	T	7: 89,542,331 (GRCm39)	A182T	probably damaging	Het
Ccpg1	A	G	9: 72,922,688 (GRCm39)	H766R	probably benign	Het
Cfl1	T	C	19: 5,542,562 (GRCm39)	V14A	probably benign	Het
Chd6	A	G	2: 160,850,312 (GRCm39)	I875T	probably benign	Het
Cidec	T	A	6: 113,405,359 (GRCm39)	E121D	probably benign	Het
Clpx	C	A	9: 65,207,295 (GRCm39)	Y64*	probably null	Het
Cntn1	T	A	15: 92,143,833 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,826 (GRCm39)	L472P	probably damaging	Het
Dcdc2c	G	T	12: 28,566,685 (GRCm39)	D159E	probably benign	Het
Emp1	T	C	6: 135,357,167 (GRCm39)	F82L	probably benign	Het
Fem1b	T	C	9: 62,703,404 (GRCm39)	T619A	probably benign	Het
Fgf15	A	T	7: 144,450,531 (GRCm39)	D39V	probably benign	Het
Galnt12	T	G	4: 47,108,525 (GRCm39)	F221V	probably damaging	Het
Herc6	A	G	6: 57,628,965 (GRCm39)		probably null	Het
Hspg2	G	A	4: 137,256,867 (GRCm39)	V1537I	probably benign	Het
Ido2	T	C	8: 25,025,154 (GRCm39)		probably null	Het
Insr	G	A	8: 3,219,717 (GRCm39)	T935I	probably benign	Het
Itgax	G	A	7: 127,747,677 (GRCm39)	C1031Y	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kmt5b	T	C	19: 3,854,501 (GRCm39)	Y255H	possibly damaging	Het
Lrriq1	A	T	10: 103,051,877 (GRCm39)	Y292N	probably benign	Het
Mrpl37	A	G	4: 106,917,717 (GRCm39)	F318S	probably damaging	Het
Nav2	A	G	7: 49,070,076 (GRCm39)	N311D	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp9b	T	C	7: 19,762,381 (GRCm39)	C673R	probably damaging	Het
Npnt	A	G	3: 132,612,563 (GRCm39)	V74A	probably benign	Het
Or10ak12	T	A	4: 118,666,939 (GRCm39)	T41S	probably benign	Het
Or1e19	T	A	11: 73,316,669 (GRCm39)	I47F	probably benign	Het
Plce1	A	T	19: 38,690,347 (GRCm39)	Q677L	probably benign	Het
Pom121l2	T	A	13: 22,168,502 (GRCm39)	F924L	probably benign	Het
Poteg	G	A	8: 27,943,372 (GRCm39)	R214K	probably null	Het
Pprc1	G	T	19: 46,059,793 (GRCm39)	S1480I	unknown	Het
Secisbp2l	A	G	2: 125,582,289 (GRCm39)	S1056P	probably benign	Het
Selenoo	T	C	15: 88,982,903 (GRCm39)	F477L	probably benign	Het
Senp2	A	G	16: 21,837,114 (GRCm39)	D121G	probably damaging	Het
Slc25a11	T	C	11: 70,536,181 (GRCm39)	D211G	probably benign	Het
Slc44a2	A	G	9: 21,253,752 (GRCm39)	D131G	probably benign	Het
Tcf25	G	A	8: 124,100,711 (GRCm39)	A34T	possibly damaging	Het
Tm9sf3	A	G	19: 41,205,818 (GRCm39)	Y530H	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmem132d	G	T	5: 128,061,415 (GRCm39)	Q396K	probably damaging	Het
Tmem154	A	G	3: 84,597,870 (GRCm39)	T136A	possibly damaging	Het
Tnrc6b	A	G	15: 80,763,742 (GRCm39)	T415A	possibly damaging	Het
Tonsl	T	C	15: 76,517,925 (GRCm39)		probably null	Het
Ttyh1	T	C	7: 4,128,657 (GRCm39)	Y185H	probably benign	Het
Ufl1	T	A	4: 25,254,852 (GRCm39)	T535S	probably benign	Het
Vmn1r15	T	C	6: 57,235,201 (GRCm39)	L23P	possibly damaging	Het
Vmn2r25	T	A	6: 123,829,040 (GRCm39)	H78L	possibly damaging	Het
Vmn2r68	T	C	7: 84,871,460 (GRCm39)	T608A	probably benign	Het
Vwf	A	G	6: 125,614,430 (GRCm39)	I1104V		Het
Zbtb2	C	T	10: 4,318,986 (GRCm39)	D347N	possibly damaging	Het
Zfyve9	A	T	4: 108,575,453 (GRCm39)	S543T	probably benign	Het
Zhx1	T	C	15: 57,916,692 (GRCm39)	N518S	probably damaging	Het
Zmym6	T	C	4: 127,016,775 (GRCm39)	V852A	possibly 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
R6145:Pmel	UTSW	10	128,551,804 (GRCm39)	missense	probably damaging	1.00
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'- TGGTGTCCATAAATCCCCGC -3'
(R):5'- CGGAAAGGTAGTTTGAAAAGGCTTC -3'

Sequencing Primer
(F):5'- ATAAATCCCCGCTCTCCATG -3'
(R):5'- GTGTCCTCCAGAAGGTGTC -3'

Posted On

2019-06-26