Incidental Mutation 'R5696:Slc45a2'
ID 450701
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R5696 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 11000807-11029319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11001219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 106 (I106T)
Ref Sequence ENSEMBL: ENSMUSP00000112408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070877] [ENSMUST00000117100]
AlphaFold P58355
Predicted Effect probably damaging
Transcript: ENSMUST00000022851
AA Change: I106T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022851
Gene: ENSMUSG00000022243
AA Change: I106T

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 benign
Transcript: ENSMUST00000070877
SMART Domains Protein: ENSMUSP00000066915
Gene: ENSMUSG00000022244

DomainStartEndE-ValueType
Pfam:CoA_transf_3 3 349 1.6e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117100
AA Change: I106T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112408
Gene: ENSMUSG00000022243
AA Change: I106T

DomainStartEndE-ValueType
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: 95.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,569,159 (GRCm39) R186W probably benign Het
Afg3l2 A G 18: 67,540,529 (GRCm39) I660T probably damaging Het
Amtn T A 5: 88,532,944 (GRCm39) Y186* probably null Het
Atosa A G 9: 74,917,399 (GRCm39) E666G probably benign Het
Atrip A G 9: 108,894,569 (GRCm39) S453P possibly damaging Het
Bahcc1 T C 11: 120,164,813 (GRCm39) L840P probably damaging Het
Capn2 T C 1: 182,306,165 (GRCm39) E527G possibly damaging Het
Caprin2 A T 6: 148,779,316 (GRCm39) Y164N possibly damaging Het
Ccnh T A 13: 85,344,446 (GRCm39) probably null Het
Cdon G T 9: 35,403,162 (GRCm39) V1091F possibly damaging Het
Ceacam14 A G 7: 17,548,267 (GRCm39) Y119C probably damaging Het
Ces2h A G 8: 105,745,611 (GRCm39) K445E possibly damaging Het
Cfap46 A G 7: 139,191,947 (GRCm39) S2357P probably damaging Het
Commd4 A T 9: 57,063,499 (GRCm39) S86R possibly damaging Het
Cpsf6 A T 10: 117,196,934 (GRCm39) probably benign Het
Dag1 A T 9: 108,086,646 (GRCm39) V165E probably benign Het
Dmxl1 A T 18: 50,065,008 (GRCm39) K2618* probably null Het
Dnah17 A G 11: 117,991,882 (GRCm39) Y1229H probably benign Het
Endov T A 11: 119,382,625 (GRCm39) L24Q probably damaging Het
Fap C T 2: 62,332,803 (GRCm39) V717M probably damaging Het
Fbxl2 A G 9: 113,815,546 (GRCm39) L239P probably damaging Het
Fbxl5 A T 5: 43,916,182 (GRCm39) V367D possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Gbp8 C T 5: 105,166,682 (GRCm39) V216I possibly damaging Het
Gclm G A 3: 122,059,936 (GRCm39) A239T probably benign Het
Gm11569 C T 11: 99,689,556 (GRCm39) probably benign Het
Gnas C A 2: 174,141,468 (GRCm39) probably benign Het
Grb10 T A 11: 11,883,566 (GRCm39) N508I probably benign Het
Gykl1 T G 18: 52,827,267 (GRCm39) I158M probably benign Het
Ide G A 19: 37,295,420 (GRCm39) T214M unknown Het
Il12rb2 T A 6: 67,272,262 (GRCm39) Q341H possibly damaging Het
Ints1 T C 5: 139,740,744 (GRCm39) E1946G probably benign Het
Kdelr3 T C 15: 79,410,100 (GRCm39) probably null Het
Kif1b A C 4: 149,358,306 (GRCm39) probably null Het
Kri1 A G 9: 21,191,533 (GRCm39) I320T probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lin9 T C 1: 180,486,646 (GRCm39) S111P probably benign Het
Lpcat2b C A 5: 107,580,773 (GRCm39) P34Q probably damaging Het
Ltk T A 2: 119,590,080 (GRCm39) T49S probably benign Het
Map3k9 A T 12: 81,780,896 (GRCm39) H421Q probably benign Het
Mapkbp1 T A 2: 119,852,201 (GRCm39) probably null Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Nek10 T A 14: 14,860,736 (GRCm38) probably null Het
Nlrp9b A T 7: 19,758,417 (GRCm39) R551S probably benign Het
Nol4l T C 2: 153,260,026 (GRCm39) T143A probably damaging Het
Or1r1 T C 11: 73,875,362 (GRCm39) H24R possibly damaging Het
Or51g1 T A 7: 102,633,748 (GRCm39) T208S probably benign Het
Or6z5 T C 7: 6,477,742 (GRCm39) probably null Het
Or7a39 A T 10: 78,715,919 (GRCm39) R304S probably benign Het
Pde4dip G T 3: 97,616,806 (GRCm39) A1812D probably damaging Het
Plekhb1 C A 7: 100,305,960 (GRCm39) G26C probably damaging Het
Polr1a T A 6: 71,906,410 (GRCm39) F409I probably benign Het
Ptpn13 T A 5: 103,702,625 (GRCm39) M1197K probably benign Het
Qrich2 T C 11: 116,335,828 (GRCm39) I2114V probably damaging Het
Rbm27 T C 18: 42,450,731 (GRCm39) Y449H probably damaging Het
Rp1l1 A G 14: 64,267,195 (GRCm39) D927G probably damaging Het
Secisbp2 C A 13: 51,833,857 (GRCm39) Q666K probably damaging Het
Slx4 G T 16: 3,797,831 (GRCm39) Q1518K probably damaging Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Son T C 16: 91,468,301 (GRCm39) V306A possibly damaging Het
Stab1 A G 14: 30,882,178 (GRCm39) S506P probably benign Het
Syne2 A C 12: 76,040,919 (GRCm39) D3859A probably benign Het
Tab1 T A 15: 80,032,930 (GRCm39) Y71* probably null Het
Tarbp1 A C 8: 127,174,079 (GRCm39) M909R probably damaging Het
Tex15 T G 8: 34,063,220 (GRCm39) S1157R probably benign Het
Tnni3 G A 7: 4,523,453 (GRCm39) T120I probably benign Het
Ttn T C 2: 76,747,888 (GRCm39) E4387G probably benign Het
Ugt3a1 G A 15: 9,361,534 (GRCm39) silent Het
Unc5d T C 8: 29,156,870 (GRCm39) I783V probably benign Het
Usp40 T C 1: 87,923,474 (GRCm39) T266A probably benign Het
Vmn2r59 C T 7: 41,695,468 (GRCm39) V315I probably benign Het
Zbtb48 G T 4: 152,105,067 (GRCm39) H532N probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y 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
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
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'- GGGAGACTTGTCATGCACAG -3'
(R):5'- GTCACTGCATGCTGAGAGAG -3'

Sequencing Primer
(F):5'- CACAGCATGGCCATGTTTG -3'
(R):5'- CTGCATGCTGAGAGAGAGAGAAC -3'
Posted On 2017-01-03