Incidental Mutation 'R8502:Slc45a2'
ID 655386
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 067839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R8502 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 11000807-11029319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11027958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 509 (I509T)
Ref Sequence ENSEMBL: ENSMUSP00000112408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117100]
AlphaFold P58355
Predicted Effect possibly damaging
Transcript: ENSMUST00000117100
AA Change: I509T

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112408
Gene: ENSMUSG00000022243
AA Change: I509T

DomainStartEndE-ValueType
Pfam:MFS_2 1 457 2e-22 PFAM
Pfam:MFS_1 2 292 2.6e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,219,282 (GRCm39) D405E probably benign Het
Abca6 T A 11: 110,110,145 (GRCm39) L599F probably damaging Het
Accs T C 2: 93,668,460 (GRCm39) Y337C probably damaging Het
Ahrr A T 13: 74,431,193 (GRCm39) Y10N probably damaging Het
Akap12 T G 10: 4,263,856 (GRCm39) D88E probably benign Het
Akr1c18 G A 13: 4,192,188 (GRCm39) R170C probably benign Het
Cgnl1 A G 9: 71,537,887 (GRCm39) V1211A probably damaging Het
Crlf2 T C 5: 109,704,917 (GRCm39) D98G probably benign Het
Cyp2c66 T A 19: 39,130,773 (GRCm39) M129K probably benign Het
Dennd4b T C 3: 90,181,165 (GRCm39) W774R probably damaging Het
Dhx9 T C 1: 153,335,210 (GRCm39) M932V probably benign Het
Dnah7a A G 1: 53,679,520 (GRCm39) S322P probably benign Het
Dst A G 1: 34,206,373 (GRCm39) D907G probably damaging Het
Hrh1 A G 6: 114,457,966 (GRCm39) K416E probably damaging Het
Ints6 G C 14: 62,998,028 (GRCm39) T27R possibly damaging Het
Krt10 C T 11: 99,278,359 (GRCm39) E267K probably damaging Het
Lama5 T C 2: 179,837,015 (GRCm39) N1074S probably damaging Het
Lrp2 C T 2: 69,344,585 (GRCm39) W844* probably null Het
N4bp2l2 T G 5: 150,585,821 (GRCm39) N53T probably benign Het
Naip6 C T 13: 100,436,784 (GRCm39) A580T possibly damaging Het
Nap1l1 T A 10: 111,317,162 (GRCm39) M1K probably null Het
Nbeal2 C T 9: 110,463,457 (GRCm39) S1258N possibly damaging Het
Or52a5 T C 7: 103,426,968 (GRCm39) I195V probably benign Het
Osgin2 A T 4: 16,005,493 (GRCm39) V131D probably damaging Het
Pced1a T C 2: 130,265,577 (GRCm39) probably benign Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Prdm2 T C 4: 142,861,584 (GRCm39) I569V probably damaging Het
Prss42 T C 9: 110,629,984 (GRCm39) L246P probably damaging Het
Ptpra C A 2: 130,391,679 (GRCm39) D732E probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Rspo3 T C 10: 29,375,970 (GRCm39) T198A probably benign Het
Spag7 T C 11: 70,560,059 (GRCm39) S17G probably benign Het
Tcl1b2 T A 12: 105,113,367 (GRCm39) Y7N probably benign Het
Tmem198 G T 1: 75,459,353 (GRCm39) G103W probably damaging Het
Trim62 A G 4: 128,803,233 (GRCm39) I428V probably benign Het
Usp7 A T 16: 8,512,893 (GRCm39) probably null Het
Zan T A 5: 137,471,845 (GRCm39) T191S probably damaging Het
Zfat T C 15: 67,976,916 (GRCm39) T1078A probably benign 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
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
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
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'- GCTAGTGCCCTGTAGACCAATG -3'
(R):5'- ACATGTATGTGCAAGGCGC -3'

Sequencing Primer
(F):5'- GCCCTGTAGACCAATGGTTGTTTC -3'
(R):5'- GCAGTGCCAGCATGAGG -3'
Posted On 2020-10-20