Incidental Mutation 'IGL03226:Slc45a2'
ID 414847
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL03226
Quality Score
Status
Chromosome 15
Chromosomal Location 11000807-11029319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11022278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 340 (D340G)
Ref Sequence ENSEMBL: ENSMUSP00000112408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117100]
AlphaFold P58355
Predicted Effect probably damaging
Transcript: ENSMUST00000117100
AA Change: D340G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112408
Gene: ENSMUSG00000022243
AA Change: D340G

DomainStartEndE-ValueType
Pfam:MFS_2 1 457 2e-22 PFAM
Pfam:MFS_1 2 292 2.6e-12 PFAM
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A G 14: 70,395,058 (GRCm39) V32A probably damaging Het
Als2 T C 1: 59,225,679 (GRCm39) T944A probably benign Het
Bcat2 T A 7: 45,237,778 (GRCm39) V348E probably damaging Het
Bnip2 A G 9: 69,903,456 (GRCm39) D36G probably benign Het
C2cd5 T A 6: 143,018,292 (GRCm39) D310V possibly damaging Het
Cltc G A 11: 86,611,113 (GRCm39) T582M probably damaging Het
Cplx3 A T 9: 57,517,290 (GRCm39) Y365N probably benign Het
Dync2h1 T C 9: 7,125,918 (GRCm39) H1896R probably benign Het
Efcab5 T C 11: 77,028,501 (GRCm39) R413G possibly damaging Het
Fam131b C T 6: 42,295,888 (GRCm39) M169I possibly damaging Het
Fam241b A G 10: 61,945,671 (GRCm39) S52P probably benign Het
Gpd2 G A 2: 57,194,498 (GRCm39) probably null Het
Gucy1a1 T A 3: 82,026,331 (GRCm39) Q41L probably benign Het
Ifna16 T C 4: 88,594,741 (GRCm39) D118G probably benign Het
Kcnn1 T C 8: 71,299,135 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Lyst A T 13: 13,884,144 (GRCm39) H2984L probably benign Het
Myh7b C T 2: 155,462,403 (GRCm39) Q369* probably null Het
Nalcn A C 14: 123,518,527 (GRCm39) W1671G probably benign Het
Ndrg2 G A 14: 52,144,026 (GRCm39) probably benign Het
Nfia C A 4: 97,951,286 (GRCm39) P371Q probably damaging Het
Or10d5 A C 9: 39,861,719 (GRCm39) probably null Het
Pcdhb22 A G 18: 37,652,009 (GRCm39) D159G probably damaging Het
Plekhm3 A T 1: 64,960,959 (GRCm39) D432E possibly damaging Het
Pramel17 T A 4: 101,692,594 (GRCm39) T469S probably benign Het
Rab2a A G 4: 8,606,448 (GRCm39) N195S probably benign Het
Sbf1 A G 15: 89,173,308 (GRCm39) Y1764H possibly damaging Het
Scap A G 9: 110,213,335 (GRCm39) T1127A possibly damaging Het
Shld2 T C 14: 33,990,328 (GRCm39) T193A probably benign Het
Tbc1d23 A T 16: 57,034,625 (GRCm39) L58Q probably damaging Het
Tmcc1 T C 6: 116,110,937 (GRCm39) T119A probably damaging Het
Tnfsf10 C A 3: 27,389,597 (GRCm39) Y219* probably null Het
Traip G A 9: 107,848,192 (GRCm39) R437Q probably damaging Het
Tyw3 T C 3: 154,293,187 (GRCm39) T163A possibly damaging Het
Other mutations in Slc45a2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R2244:Slc45a2 UTSW 15 11,003,087 (GRCm39) missense probably benign 0.21
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
Posted On 2016-08-02