Mutagenetix > Incidental Mutation

Incidental Mutation 'R2244:Slc45a2'

240611

Institutional Source

Beutler Lab

Gene Symbol

Slc45a2

Ensembl Gene

ENSMUSG00000022243

Gene Name

solute carrier family 45, member 2

Synonyms

Aim1, Dbr, blanc-sale, dominant brown, Aim-1, Matp, bls, Oca4

MMRRC Submission

040244-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R2244 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11000807-11029319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11003087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 187 (T187A)

Ref Sequence

ENSEMBL: ENSMUSP00000112408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117100]

AlphaFold

P58355

Predicted Effect

probably benign
Transcript: ENSMUST00000022851
AA Change: T187A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022851
Gene: ENSMUSG00000022243
AA Change: T187A

Domain	Start	End	E-Value	Type
Pfam:MFS_2	34	262	2.4e-17	PFAM
Pfam:MFS_1	36	363	3e-13	PFAM
transmembrane domain	365	387	N/A	INTRINSIC
transmembrane domain	394	416	N/A	INTRINSIC
transmembrane domain	421	443	N/A	INTRINSIC
transmembrane domain	477	499	N/A	INTRINSIC
transmembrane domain	504	526	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117100
AA Change: T187A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112408
Gene: ENSMUSG00000022243
AA Change: T187A

Domain	Start	End	E-Value	Type
Pfam:MFS_2	1	457	2e-22	PFAM
Pfam:MFS_1	2	292	2.6e-12	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygotes for spontaneous mutations exhibit varied degrees of hypopigmentation of the eyes, skin, and hair, especially the underfur. Eyes are very light at birth but darken with age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	G	7: 132,484,940 (GRCm39)	T328A	probably benign	Het
Aen	T	C	7: 78,557,045 (GRCm39)	Y156H	probably damaging	Het
Aip	T	C	19: 4,164,796 (GRCm39)	D263G	probably benign	Het
Car1	T	A	3: 14,835,912 (GRCm39)	I70F	possibly damaging	Het
Cc2d2a	T	A	5: 43,889,775 (GRCm39)	F1357Y	probably damaging	Het
Cit	A	G	5: 116,064,564 (GRCm39)	E482G	probably damaging	Het
Dennd4c	C	T	4: 86,692,780 (GRCm39)	P97S	probably damaging	Het
Fbxw24	T	C	9: 109,434,117 (GRCm39)	T398A	possibly damaging	Het
Fpr3	T	C	17: 18,191,449 (GRCm39)	F240S	probably benign	Het
Herc6	A	T	6: 57,575,602 (GRCm39)	R208*	probably null	Het
Itsn1	A	G	16: 91,650,659 (GRCm39)	N928S	probably null	Het
Ly75	T	C	2: 60,180,257 (GRCm39)	D640G	probably benign	Het
Mfsd4a	T	A	1: 131,956,243 (GRCm39)	E507V	probably benign	Het
Nyap1	T	C	5: 137,733,576 (GRCm39)	T486A	probably damaging	Het
Or11g2	G	A	14: 50,856,114 (GRCm39)	C145Y	probably damaging	Het
Pgam2	T	C	11: 5,751,723 (GRCm39)	T238A	probably benign	Het
Pgm2	A	G	5: 64,264,045 (GRCm39)	D343G	probably benign	Het
Rbpjl	G	T	2: 164,245,137 (GRCm39)		probably benign	Het
Rhobtb2	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	14: 70,024,976 (GRCm39)		probably benign	Het
Selp	G	T	1: 163,964,855 (GRCm39)	E506*	probably null	Het
Sgo2a	T	C	1: 58,056,213 (GRCm39)	I799T	probably benign	Het
Tenm2	A	T	11: 36,755,689 (GRCm39)	L103H	probably damaging	Het
Thbs2	A	G	17: 14,891,675 (GRCm39)	I954T	probably damaging	Het
Usp20	T	C	2: 30,900,343 (GRCm39)	S286P	possibly damaging	Het

Other mutations in Slc45a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02074:Slc45a2	APN	15	11,000,903 (GRCm39)	start codon destroyed	probably null	0.80
IGL02283:Slc45a2	APN	15	11,001,268 (GRCm39)	missense	probably damaging	1.00
IGL02634:Slc45a2	APN	15	11,023,440 (GRCm39)	missense	probably benign	0.21
IGL03039:Slc45a2	APN	15	11,012,773 (GRCm39)	missense	probably benign
IGL03123:Slc45a2	APN	15	11,012,741 (GRCm39)	missense	probably benign	0.01
IGL03226:Slc45a2	APN	15	11,022,278 (GRCm39)	missense	probably damaging	1.00
cardigan	UTSW	15	11,022,257 (GRCm39)	synonymous	probably benign
cheng	UTSW	15	11,025,954 (GRCm39)	missense	probably damaging	0.99
Draco2	UTSW	15	11,000,903 (GRCm39)	start codon destroyed	probably benign	0.05
galak	UTSW	15	11,012,752 (GRCm39)	missense	probably benign
goku	UTSW	15	11,000,941 (GRCm39)	nonsense	probably null
grey_goose	UTSW	15	11,003,067 (GRCm39)	missense	probably damaging	1.00
june_gloom	UTSW	15	11,023,529 (GRCm39)	missense	possibly damaging	0.94
nilla	UTSW	15	0 ()	splice donor site
Olaf	UTSW	15	0 ()	unclassified
sweater	UTSW	15	11,012,696 (GRCm39)	missense	probably damaging	1.00
voldemort	UTSW	15	0 ()	unclassified
yuki	UTSW	15	11,001,178 (GRCm39)	missense	probably damaging	1.00
zuckerkuss	UTSW	15	11,026,020 (GRCm39)	critical splice donor site	probably benign
R0148:Slc45a2	UTSW	15	11,025,954 (GRCm39)	missense	probably damaging	0.99
R0433:Slc45a2	UTSW	15	11,025,831 (GRCm39)	missense	probably benign	0.17
R0440:Slc45a2	UTSW	15	11,000,903 (GRCm39)	start codon destroyed	probably benign	0.05
R0675:Slc45a2	UTSW	15	11,025,864 (GRCm39)	missense	probably damaging	1.00
R1384:Slc45a2	UTSW	15	11,025,832 (GRCm39)	missense	probably benign	0.04
R1616:Slc45a2	UTSW	15	11,022,214 (GRCm39)	missense	probably null	0.01
R1824:Slc45a2	UTSW	15	11,022,172 (GRCm39)	missense	probably damaging	0.99
R3761:Slc45a2	UTSW	15	11,012,800 (GRCm39)	missense	probably benign	0.07
R4631:Slc45a2	UTSW	15	11,012,662 (GRCm39)	missense	probably benign	0.13
R4756:Slc45a2	UTSW	15	11,028,016 (GRCm39)	nonsense	probably null
R4990:Slc45a2	UTSW	15	11,001,236 (GRCm39)	missense	probably benign	0.00
R5066:Slc45a2	UTSW	15	11,012,693 (GRCm39)	missense	probably benign	0.31
R5209:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5210:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5211:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5212:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5213:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5259:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5261:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5390:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5394:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5395:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5422:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5496:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5498:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5499:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5500:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5501:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5649:Slc45a2	UTSW	15	11,012,693 (GRCm39)	missense	probably benign	0.00
R5662:Slc45a2	UTSW	15	11,022,169 (GRCm39)	missense	probably benign	0.31
R5696:Slc45a2	UTSW	15	11,001,219 (GRCm39)	missense	probably damaging	1.00
R5896:Slc45a2	UTSW	15	11,000,941 (GRCm39)	nonsense	probably null
R6236:Slc45a2	UTSW	15	11,022,158 (GRCm39)	missense	probably benign	0.00
R6709:Slc45a2	UTSW	15	11,001,216 (GRCm39)	missense	possibly damaging	0.46
R7243:Slc45a2	UTSW	15	11,023,436 (GRCm39)	missense	possibly damaging	0.94
R7839:Slc45a2	UTSW	15	11,027,835 (GRCm39)	missense	probably benign
R8221:Slc45a2	UTSW	15	11,001,233 (GRCm39)	missense	probably benign	0.02
R8404:Slc45a2	UTSW	15	11,027,958 (GRCm39)	missense	possibly damaging	0.62
R8502:Slc45a2	UTSW	15	11,027,958 (GRCm39)	missense	possibly damaging	0.62
R8680:Slc45a2	UTSW	15	11,000,972 (GRCm39)	missense	probably benign	0.00
R8724:Slc45a2	UTSW	15	11,012,610 (GRCm39)	missense	probably benign	0.00
R8966:Slc45a2	UTSW	15	11,001,122 (GRCm39)	missense	probably damaging	1.00
R9431:Slc45a2	UTSW	15	11,026,005 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGCTAACCCAAGGCAGAAGC -3'
(R):5'- TGCAGTGTTCTGAAGAAACCTC -3'

Sequencing Primer
(F):5'- AGCTGATCTGGGCCATAAGCATC -3'
(R):5'- TTTCAGGAACTCTGCAGCCCAG -3'

Posted On

2014-10-15