Phenotypic Mutation 'yuki' (pdf version)
Alleleyuki
Mutation Type missense
Chromosome15
Coordinate11,001,178 bp (GRCm39)
Base Change T ⇒ G (forward strand)
Gene Slc45a2
Gene Name solute carrier family 45, member 2
Synonym(s) Aim1, Dbr, blanc-sale, dominant brown, Aim-1, Matp, bls, Oca4
Chromosomal Location 11,000,807-11,029,319 bp (+) (GRCm39)
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]
Accession Number

NCBI RefSeq: NM_053077; MGI: 2153040

MappedYes 
Amino Acid Change Serine changed to Arginine
Institutional SourceBeutler Lab
Gene Model not available
AlphaFold P58355
SMART Domains Protein: ENSMUSP00000112408
Gene: ENSMUSG00000022243
AA Change: S92R

DomainStartEndE-ValueType
Pfam:MFS_2 1 457 2e-22 PFAM
Pfam:MFS_1 2 292 2.6e-12 PFAM
Predicted Effect probably damaging

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
(Using ENSMUST00000117100)
Meta Mutation Damage Score Not available question?
Is this an essential gene? Probably nonessential (E-score: 0.094) question?
Phenotypic Category Autosomal Recessive
Candidate Explorer Status loading ...
Single pedigree
Linkage Analysis Data
Penetrance 100% 
Alleles Listed at MGI

All alleles(15) : Targeted, other(3) Spontaneous(5) Chemically induced(7)

Lab Alleles
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02074:Slc45a2 APN 15 11000903 start codon destroyed probably null 0.80
IGL02283:Slc45a2 APN 15 11001268 missense probably damaging 1.00
IGL02634:Slc45a2 APN 15 11023440 missense probably benign 0.21
IGL03039:Slc45a2 APN 15 11012773 missense probably benign
IGL03123:Slc45a2 APN 15 11012741 missense probably benign 0.01
IGL03226:Slc45a2 APN 15 11022278 missense probably damaging 1.00
cardigan UTSW 15 11022257 synonymous probably benign
cheng UTSW 15 11025954 missense probably damaging 0.99
Draco2 UTSW 15 11000903 start codon destroyed probably benign 0.05
galak UTSW 15 11012752 missense probably benign
goku UTSW 15 11000941 nonsense probably null
grey_goose UTSW 15 11003067 missense probably damaging 1.00
june_gloom UTSW 15 11023529 missense possibly damaging 0.94
nilla UTSW 15 splice donor site
Olaf UTSW 15 unclassified
sweater UTSW 15 11012696 missense probably damaging 1.00
voldemort UTSW 15 unclassified
zuckerkuss UTSW 15 11026020 critical splice donor site probably benign
R0148:Slc45a2 UTSW 15 11025954 missense probably damaging 0.99
R0433:Slc45a2 UTSW 15 11025831 missense probably benign 0.17
R0440:Slc45a2 UTSW 15 11000903 start codon destroyed probably benign 0.05
R0675:Slc45a2 UTSW 15 11025864 missense probably damaging 1.00
R1384:Slc45a2 UTSW 15 11025832 missense probably benign 0.04
R1616:Slc45a2 UTSW 15 11022214 missense probably null 0.01
R1824:Slc45a2 UTSW 15 11022172 missense probably damaging 0.99
R2244:Slc45a2 UTSW 15 11003087 missense probably benign 0.21
R3761:Slc45a2 UTSW 15 11012800 missense probably benign 0.07
R4631:Slc45a2 UTSW 15 11012662 missense probably benign 0.13
R4756:Slc45a2 UTSW 15 11028016 nonsense probably null
R4990:Slc45a2 UTSW 15 11001236 missense probably benign 0.00
R5066:Slc45a2 UTSW 15 11012693 missense probably benign 0.31
R5209:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5210:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5211:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5212:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5213:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5259:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5261:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5390:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5394:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5395:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5422:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5496:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5498:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5499:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5500:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5501:Slc45a2 UTSW 15 11027871 missense probably damaging 0.98
R5649:Slc45a2 UTSW 15 11012693 missense probably benign 0.00
R5662:Slc45a2 UTSW 15 11022169 missense probably benign 0.31
R5696:Slc45a2 UTSW 15 11001219 missense probably damaging 1.00
R5896:Slc45a2 UTSW 15 11000941 nonsense probably null
R6236:Slc45a2 UTSW 15 11022158 missense probably benign 0.00
R6709:Slc45a2 UTSW 15 11001216 missense possibly damaging 0.46
R7243:Slc45a2 UTSW 15 11023436 missense possibly damaging 0.94
R7839:Slc45a2 UTSW 15 11027835 missense probably benign
R8221:Slc45a2 UTSW 15 11001233 missense probably benign 0.02
R8404:Slc45a2 UTSW 15 11027958 missense possibly damaging 0.62
R8502:Slc45a2 UTSW 15 11027958 missense possibly damaging 0.62
R8680:Slc45a2 UTSW 15 11000972 missense probably benign 0.00
R8724:Slc45a2 UTSW 15 11012610 missense probably benign 0.00
R8966:Slc45a2 UTSW 15 11001122 missense probably damaging 1.00
R9431:Slc45a2 UTSW 15 11026005 missense possibly damaging 0.94
Mode of Inheritance Autosomal Recessive
Local Stock Sperm, gDNA
Repository
Last Updated 2018-08-01 4:32 PM by Diantha La Vine
Record Created 2011-02-22 9:49 PM by Wataru Tomisato
Record Posted 2011-08-25
Phenotypic Description

The yuki mutation was induced by ENU on the C57BL/6J (black) background and discovered in G3 animals. The mutant mice exhibit a “dirty white” coat color and reddish eyes (see figure).  They responded normally in the in vivo CpG screen.

Nature of Mutation

Because the phenotype of yuki mice is similar to that of Slc45a2 mutants cardigan, galak, grey goose, june gloom, nilla, sweater, zuckerkuss, the Slc45a2 gene was directly sequenced.  A T to G transversion at position 372 of the Slc45a2 mRNA was detected.  The mutation occurs in the first of seven exons.

355 GTGGTGGGATCAGCCAGTGATCACTGCAGGGCC

87  -V--V--G--S--A--S--D--H--C--R--A-

The mutated nucleotide is indicated in red lettering, and causes a serine to arginine substitution at amino acid 92 of Slc45a2.

Illustration of Mutations in
Gene & Protein
Protein Prediction
Figure 1. Protein topology and domain structure of SLC45A2. SLC45A2 is a 55kD protein with 12 membrane-spanning (TM) domains, an elongated N-terminus, and enlarged cytoplasmic loop between transmembrane domains six and seven. The sucrose-transporter signature sequence, R-W-G-R-R is noted. The yuki mutation (red asterisk) causes a serine to arginine substitution at amino acid 92 of the SLC45A2 protein. This image is interactive. Click on the mutations for more specific information.  

The yuki mutation affects a serine residue in the 16-amino acid cytosolic loop between transmembrane helices 2 and 3. 

Please see the record for cardigan for more information about Slc45a2.

Primers Primers cannot be located by automatic search.
Genotyping

Yuki genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide change.

Primers

Yuki (F): 5’- GAGGCACAAGCATTCTAAGGACCC -3’

Yuki (R): 5’-AGTGGCTCAAAACTCCTTCGACTG -3’

PCR program

1) 95°C             2:00

2) 95°C             0:30

3) 56°C             0:30

4) 72°C             1:00

5) repeat steps (2-4) 29X

6) 72°C             7:00

7)  4°C              ∞

Primers for sequencing

Yuki_seq(F): 5’- ATGCTTCCGAGTGCCAAC -3’

Yuki_seq(R): 5’- CTTGCAATAATAAAAGGCAGCGTC -3’

The following sequence of 925 nucleotides (10930336-10931260 bp of the NCBI Reference Sequence for chromosome 15) is amplified:

                      gaggcacaag cattctaagg accccgaggg ctcacagcag

ctaatctctg tcatgcttcc gagtgccaac gccccctttg cttctcaccg taacttgtga

tcttggaggc atgaaagaat ttcagcccct cctccagcct gaccatctct gttggttgct

ctgacaggct ccatgtcaga cccggtttgg agcacaaatc tgaggaccac gcaagaaggc

tattttctcc gtggtcatga gtggaagcaa tgggccgact gacacccata cctatcaatc

cttagccgag gattgcccct ttggctctgt ggagcaaccc aagagatcca cagggagact

tgtcatgcac agcatggcca tgtttggccg agagttttgc tatgcggtgg aggcagctta

tgtgactcca gttctgctca gcgtgggcct gcctaagagc ctgtacagca tggtgtggct

cctaagcccc atcttgggat tcctgctcca gcctgtggtg ggatcagcca gtgatcactg

cagggcccgt tggggtcgcc ggagaccata catcctgact ctggccatta tgatgctctt

gggaatggct ctgtacctca atggagatgc ggtcgtatca ggtaagtgga tcgcacagat

cccatagtta actgctgggt taaaatgtca tcagtatttt ttaatgccgc atagaaaatg

gctagaacta acgttctctc tctctcagca tgcagtgacc tccctcccac ctttggatga

ccccgagcct ggggctgagg ggcttttact tccagaacca tctcgacgct gccttttatt

attgcaaggt tttaaaaatg ggattgagct tatatctatt tcatcaaatt atattcttaa

aaattatttt tatttattta ccagtcgaag gagttttgag ccact

Primer binding sites are underlined; sequencing primer binding sites are highlighted in gray; the mutated T is indicated in red.

Science Writers Eva Marie Y. Moresco
Illustrators Diantha La Vine
AuthorsWataru Tomisato, Bruce Beutler
Edit History
2011-08-25 11:54 AM (current)
2011-08-25 10:51 AM
2011-08-25 10:42 AM
2011-08-25 10:34 AM