Incidental Mutation 'R5211:Slc45a2'
ID 403149
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 042785-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R5211 (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: 97.5%
  • 20x: 95.8%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A G 14: 70,394,233 (GRCm39) S181P probably benign Het
Adgrf5 A T 17: 43,733,511 (GRCm39) T112S probably benign Het
Ascc2 T C 11: 4,623,399 (GRCm39) V545A possibly damaging Het
Bmp2 A T 2: 133,396,550 (GRCm39) S69C probably damaging Het
Btaf1 T A 19: 36,973,962 (GRCm39) I1378K probably benign Het
Ces2b C T 8: 105,561,695 (GRCm39) T263I possibly damaging Het
Cntn5 A T 9: 9,704,894 (GRCm39) V635D possibly damaging Het
Dock6 T C 9: 21,731,648 (GRCm39) E1218G probably benign Het
Eml6 T C 11: 29,804,145 (GRCm39) I319V probably benign Het
Esd T C 14: 74,978,632 (GRCm39) S65P probably damaging Het
Exoc1l C A 5: 76,664,250 (GRCm39) T113K possibly damaging Het
Fstl3 A T 10: 79,616,012 (GRCm39) Q166L probably benign Het
Garin1a A T 6: 29,286,098 (GRCm39) K128* probably null Het
Gcn1 T A 5: 115,757,371 (GRCm39) S2445T probably benign Het
Gfy C A 7: 44,827,282 (GRCm39) L271F possibly damaging Het
Gjc2 A G 11: 59,068,284 (GRCm39) V66A possibly damaging Het
H3c4 G T 13: 23,760,015 (GRCm39) G14C possibly damaging Het
Itm2c T A 1: 85,834,249 (GRCm39) V188E probably damaging Het
Jmjd1c C G 10: 67,067,795 (GRCm39) S1766C probably damaging Het
Kcnn3 A G 3: 89,428,538 (GRCm39) T255A probably benign Het
Kdm4d A C 9: 14,374,400 (GRCm39) V486G probably benign Het
Krt18 T G 15: 101,939,888 (GRCm39) I362S probably damaging Het
Lrrc8d G A 5: 105,961,606 (GRCm39) R672Q probably damaging Het
Ly6f G A 15: 75,143,652 (GRCm39) V120M probably damaging Het
Map3k4 A G 17: 12,451,321 (GRCm39) V1524A possibly damaging Het
Mrgprh T C 17: 13,095,889 (GRCm39) V43A probably benign Het
Mx2 A T 16: 97,348,633 (GRCm39) M269L probably damaging Het
Myrfl C T 10: 116,634,535 (GRCm39) V620I probably benign Het
Nlrp9b G A 7: 19,783,381 (GRCm39) C908Y probably damaging Het
Nyap2 T A 1: 81,064,991 (GRCm39) M1K probably null Het
Olfml3 A T 3: 103,644,515 (GRCm39) H51Q probably benign Het
Or11h6 C T 14: 50,880,710 (GRCm39) T324I possibly damaging Het
Pcdhb1 G A 18: 37,399,704 (GRCm39) V552I probably benign Het
Pm20d1 T A 1: 131,734,647 (GRCm39) I353N possibly damaging Het
Sbk2 A G 7: 4,965,966 (GRCm39) F73L possibly damaging Het
Scn10a A C 9: 119,490,298 (GRCm39) L548R possibly damaging Het
Slmap T C 14: 26,204,117 (GRCm39) Y68C probably damaging Het
Syde2 T C 3: 145,707,093 (GRCm39) V611A probably benign Het
Sympk A G 7: 18,769,814 (GRCm39) M164V probably benign Het
Syt17 T C 7: 118,041,626 (GRCm39) S43G probably benign Het
Ubr1 T C 2: 120,723,651 (GRCm39) T1303A possibly damaging Het
Vmn2r100 A G 17: 19,746,257 (GRCm39) Y535C 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
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
Predicted Primers PCR Primer
(F):5'- AGATCCTACGAAGCCCAGAG -3'
(R):5'- TGAGGCATACAGTCCCCAAC -3'

Sequencing Primer
(F):5'- CTACGAAGCCCAGAGGTAGTTAC -3'
(R):5'- AAAAGAGCGGTTTCTTGCCATG -3'
Posted On 2016-07-22