Incidental Mutation 'R5395:Slc45a2'
ID 426157
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 042967-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R5395 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 11000807-11029319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 11027871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 480 (T480I)
Ref Sequence ENSEMBL: ENSMUSP00000112408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117100]
AlphaFold P58355
Predicted Effect probably damaging
Transcript: ENSMUST00000022851
AA Change: T480I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022851
Gene: ENSMUSG00000022243
AA Change: T480I

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000117100
AA Change: T480I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112408
Gene: ENSMUSG00000022243
AA Change: T480I

DomainStartEndE-ValueType
Pfam:MFS_2 1 457 2e-22 PFAM
Pfam:MFS_1 2 292 2.6e-12 PFAM
Meta Mutation Damage Score 0.1786 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,874,590 (GRCm39) I268V probably benign Het
Actn1 T A 12: 80,217,477 (GRCm39) I782F probably benign Het
Adamdec1 A C 14: 68,808,352 (GRCm39) S333A probably benign Het
Agbl5 C A 5: 31,047,682 (GRCm39) T58N probably damaging Het
Apoo-ps T A 13: 107,550,993 (GRCm39) noncoding transcript Het
Arhgef10l T C 4: 140,297,601 (GRCm39) N277S probably benign Het
Ascc2 A G 11: 4,609,273 (GRCm39) E241G possibly damaging Het
Atp13a4 A T 16: 29,239,706 (GRCm39) Y835* probably null Het
Atp13a4 A G 16: 29,275,422 (GRCm39) V354A possibly damaging Het
Bcas3 T C 11: 85,716,075 (GRCm39) S426P probably damaging Het
Birc2 T C 9: 7,861,175 (GRCm39) R48G probably damaging Het
Cacna2d4 T C 6: 119,248,379 (GRCm39) S397P possibly damaging Het
Ccng2 T C 5: 93,417,257 (GRCm39) M91T possibly damaging Het
Clk3 G A 9: 57,660,622 (GRCm39) T473M probably damaging Het
Cog2 T A 8: 125,271,960 (GRCm39) H491Q probably benign Het
Cyp4f40 C T 17: 32,888,827 (GRCm39) T202I probably benign Het
Dennd1a A T 2: 37,692,140 (GRCm39) F181I probably damaging Het
Fcrl6 G T 1: 172,426,287 (GRCm39) A170D possibly damaging Het
Fev T C 1: 74,921,823 (GRCm39) probably null Het
Flnb A G 14: 7,883,881 (GRCm38) N369S probably benign Het
Flt3 A G 5: 147,291,633 (GRCm39) F606L probably damaging Het
Gdf9 T C 11: 53,324,624 (GRCm39) V131A probably benign Het
Gdnf T A 15: 7,864,165 (GRCm39) L192Q probably damaging Het
Gjc2 A T 11: 59,068,315 (GRCm39) C56S possibly damaging Het
Gli3 T C 13: 15,889,535 (GRCm39) F550L probably damaging Het
Gm1110 T C 9: 26,800,928 (GRCm39) E422G probably benign Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gnb2 A G 5: 137,526,788 (GRCm39) S334P probably damaging Het
Icam2 A T 11: 106,273,299 (GRCm39) probably null Het
Inca1 C T 11: 70,581,264 (GRCm39) probably null Het
Itgb8 A C 12: 119,134,476 (GRCm39) C530W probably damaging Het
Lrp1 T C 10: 127,431,166 (GRCm39) D332G probably damaging Het
Ly75 A T 2: 60,195,455 (GRCm39) N234K probably benign Het
Mcm5 G A 8: 75,849,654 (GRCm39) S542N probably benign Het
Mcm9 A T 10: 53,414,788 (GRCm39) N97K possibly damaging Het
Morc2a G A 11: 3,638,232 (GRCm39) R986H possibly damaging Het
Neu2 T A 1: 87,524,397 (GRCm39) probably null Het
Nfatc1 G A 18: 80,679,235 (GRCm39) P718S possibly damaging Het
Nol6 G A 4: 41,118,392 (GRCm39) probably benign Het
Or10j7 A T 1: 173,011,247 (GRCm39) Y251* probably null Het
Otogl T C 10: 107,652,999 (GRCm39) N1118D probably benign Het
Pcdh15 T A 10: 74,021,119 (GRCm39) I111K probably damaging Het
Phkb A G 8: 86,744,097 (GRCm39) D582G probably damaging Het
Piwil2 G T 14: 70,632,846 (GRCm39) N575K probably benign Het
Pou4f2 T A 8: 79,161,701 (GRCm39) I301F probably damaging Het
Prkd1 T C 12: 50,438,215 (GRCm39) N409S probably damaging Het
Ptpn21 T G 12: 98,681,376 (GRCm39) K86T probably damaging Het
Raly T A 2: 154,705,927 (GRCm39) probably null Het
Rangap1 A G 15: 81,590,647 (GRCm39) F482L probably benign Het
Rapgef1 T A 2: 29,627,977 (GRCm39) N1052K probably damaging Het
Rnf169 A T 7: 99,584,367 (GRCm39) probably null Het
Sdr16c5 T C 4: 4,016,277 (GRCm39) S50G probably benign Het
Sin3a G A 9: 57,012,957 (GRCm39) R612H probably damaging Het
Six6 T A 12: 72,988,475 (GRCm39) L216* probably null Het
Slc20a1 A T 2: 129,050,257 (GRCm39) N472Y probably damaging Het
Slc35d1 C T 4: 103,068,572 (GRCm39) probably null Het
Slc7a8 C A 14: 54,970,734 (GRCm39) G306* probably null Het
Slc9a8 T A 2: 167,309,642 (GRCm39) F335L probably damaging Het
Smyd1 T G 6: 71,196,374 (GRCm39) K338T possibly damaging Het
Snd1 T A 6: 28,526,183 (GRCm39) V187E probably damaging Het
Spag9 T G 11: 93,982,577 (GRCm39) probably null Het
Tnfsf9 C A 17: 57,412,592 (GRCm39) T54K probably benign Het
Trim24 T G 6: 37,934,679 (GRCm39) V798G probably damaging Het
Tyr C A 7: 87,121,698 (GRCm39) A365S probably damaging Het
Usp43 T A 11: 67,788,184 (GRCm39) probably null Het
Vmn2r55 T C 7: 12,385,874 (GRCm39) D702G probably damaging Het
Vmn2r72 A G 7: 85,400,105 (GRCm39) S315P possibly damaging Het
Wdr64 T A 1: 175,583,164 (GRCm39) F367I probably damaging Het
Zc3h7b G A 15: 81,656,702 (GRCm39) R173K possibly damaging Het
Zfp493 T A 13: 67,931,965 (GRCm39) C21* probably null Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Zpbp2 T A 11: 98,449,039 (GRCm39) V275D probably 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
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
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'- ACAAAGGCTTTCTGGAGCTG -3'
(R):5'- AGAGCGGTTTCTTGCCATGG -3'

Sequencing Primer
(F):5'- AAAGGCTTTCTGGAGCTGTGAGAG -3'
(R):5'- CCATGGGCTTCTTTTGTCTGAG -3'
Posted On 2016-08-04