Mutagenetix > Incidental Mutation

Incidental Mutation 'R5213:Slc45a2'

403296

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

042854-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R5213 (G1)

Quality Score

225

Status

Not validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:MFS_2	1	457	2e-22	PFAM
Pfam:MFS_1	2	292	2.6e-12	PFAM

Meta Mutation Damage Score

0.1786

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	A	4: 86,303,865 (GRCm39)	H1342N	possibly damaging	Het
Adcy2	G	T	13: 68,768,942 (GRCm39)	T1062K	possibly damaging	Het
Aqr	T	C	2: 113,943,808 (GRCm39)	N1110S	probably damaging	Het
Atp10a	C	T	7: 58,423,731 (GRCm39)	T232I	probably damaging	Het
Atp5pb	T	A	3: 105,863,227 (GRCm39)	K70*	probably null	Het
Atp8b4	A	C	2: 126,231,329 (GRCm39)		probably null	Het
Atraid	A	C	5: 31,209,552 (GRCm39)	Q72P	probably damaging	Het
Atxn2	G	T	5: 121,952,543 (GRCm39)		probably null	Het
Best3	A	T	10: 116,860,377 (GRCm39)	T546S	probably benign	Het
Brd3	T	C	2: 27,353,960 (GRCm39)	K51E	possibly damaging	Het
Brip1	A	G	11: 86,034,147 (GRCm39)	S525P	possibly damaging	Het
Cenpf	A	G	1: 189,387,177 (GRCm39)	I1701T	probably benign	Het
Chrna9	A	T	5: 66,128,427 (GRCm39)	K208*	probably null	Het
Clec2l	T	A	6: 38,657,127 (GRCm39)	C197S	probably damaging	Het
Crp	A	G	1: 172,526,086 (GRCm39)	H57R	probably benign	Het
Cyp27b1	C	A	10: 126,887,964 (GRCm39)	T492N	probably damaging	Het
Dock4	A	T	12: 40,726,741 (GRCm39)	I340F	probably damaging	Het
Dsg1b	A	T	18: 20,528,987 (GRCm39)	D241V	probably damaging	Het
Epg5	G	T	18: 78,058,049 (GRCm39)	V1865L	probably benign	Het
Erap1	A	G	13: 74,819,614 (GRCm39)		probably null	Het
Fat2	C	T	11: 55,144,658 (GRCm39)	C4072Y	probably benign	Het
Fat4	T	A	3: 39,034,340 (GRCm39)	I2664N	possibly damaging	Het
Gabrp	A	G	11: 33,517,211 (GRCm39)		probably null	Het
Glis2	G	T	16: 4,431,946 (GRCm39)		probably benign	Het
Gm17654	A	G	14: 43,816,559 (GRCm39)	S15P	probably damaging	Het
Gm21836	A	G	9: 124,252,736 (GRCm39)	V14A	unknown	Het
Gon7	G	A	12: 102,720,380 (GRCm39)	T84I	possibly damaging	Het
Greb1	G	T	12: 16,764,791 (GRCm39)	Y447*	probably null	Het
Grip2	A	T	6: 91,756,812 (GRCm39)	D546E	probably benign	Het
Hectd1	A	G	12: 51,849,316 (GRCm39)		probably null	Het
Il36a	T	A	2: 24,114,486 (GRCm39)	F120L	probably damaging	Het
Itga4	T	C	2: 79,150,920 (GRCm39)	V842A	probably benign	Het
Khsrp	G	A	17: 57,331,366 (GRCm39)	A404V	probably benign	Het
Map3k11	T	C	19: 5,740,669 (GRCm39)	V132A	probably damaging	Het
Mcub	A	C	3: 129,710,646 (GRCm39)	F262C	probably benign	Het
Msantd5f6	G	T	4: 73,319,571 (GRCm39)	Q302K	probably damaging	Het
Mysm1	A	T	4: 94,836,614 (GRCm39)	V732E	probably damaging	Het
Npr2	T	A	4: 43,640,673 (GRCm39)		probably null	Het
Or10d5	A	C	9: 39,861,389 (GRCm39)	I226S	probably damaging	Het
Or12d12	T	C	17: 37,610,942 (GRCm39)	I124V	probably damaging	Het
Or5k1b	T	C	16: 58,580,984 (GRCm39)	Y185C	probably damaging	Het
Oxgr1	G	T	14: 120,259,552 (GRCm39)	Y218*	probably null	Het
Paf1	A	G	7: 28,095,397 (GRCm39)	Q161R	possibly damaging	Het
Pck1	A	T	2: 172,997,878 (GRCm39)	K316*	probably null	Het
Plac8	T	A	5: 100,704,371 (GRCm39)	M109L	probably benign	Het
Plagl2	A	T	2: 153,074,239 (GRCm39)	C221S	probably damaging	Het
Polg	T	C	7: 79,103,846 (GRCm39)	D870G	probably damaging	Het
Polr2k	T	A	15: 36,175,143 (GRCm39)	M1K	probably null	Het
Prdm9	T	C	17: 15,775,416 (GRCm39)	H276R	probably damaging	Het
Resf1	C	A	6: 149,227,551 (GRCm39)	P199Q	possibly damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Serpina3i	A	G	12: 104,231,914 (GRCm39)	I184V	probably benign	Het
Shank3	A	G	15: 89,417,481 (GRCm39)	E26G	possibly damaging	Het
Skil	T	C	3: 31,171,600 (GRCm39)	S575P	probably damaging	Het
Slc13a1	A	G	6: 24,108,158 (GRCm39)	L306P	probably damaging	Het
Slc20a1	G	T	2: 129,042,429 (GRCm39)	W166L	probably damaging	Het
Snrnp200	G	T	2: 127,073,661 (GRCm39)	G1353V	probably damaging	Het
Spata6l	A	T	19: 28,940,964 (GRCm39)	V50E	probably benign	Het
Sphkap	A	G	1: 83,258,224 (GRCm39)	I173T	probably damaging	Het
Stab2	A	T	10: 86,743,061 (GRCm39)	F1183I	probably damaging	Het
Stard9	A	G	2: 120,529,707 (GRCm39)	D1988G	probably damaging	Het
Tank	T	A	2: 61,480,292 (GRCm39)	I276N	probably benign	Het
Tcaf3	A	G	6: 42,568,401 (GRCm39)	W652R	probably damaging	Het
Tgm2	G	A	2: 157,984,980 (GRCm39)	T42I	possibly damaging	Het
Tnni2	G	T	7: 141,997,039 (GRCm39)		probably null	Het
Tns1	A	G	1: 73,992,771 (GRCm39)	S9P	probably damaging	Het
Tram1	T	C	1: 13,649,966 (GRCm39)	Y86C	probably damaging	Het
Trdv2-1	T	C	14: 54,183,863 (GRCm39)	S32P	probably benign	Het
Trim24	T	C	6: 37,934,010 (GRCm39)	I651T	probably damaging	Het
Trpm3	T	G	19: 22,674,818 (GRCm39)	Y72*	probably null	Het
Ube2o	G	A	11: 116,432,285 (GRCm39)	P894S	possibly damaging	Het
Ubr4	C	T	4: 139,129,877 (GRCm39)	R666*	probably null	Het
Ugt1a8	T	A	1: 88,015,845 (GRCm39)	L86*	probably null	Het
Usp32	T	A	11: 84,913,085 (GRCm39)	N941I	probably damaging	Het
Utrn	C	T	10: 12,512,504 (GRCm39)	V2322M	probably damaging	Het
Vmn1r184	A	T	7: 25,967,136 (GRCm39)	Y294F	probably damaging	Het
Vmn2r108	T	C	17: 20,691,755 (GRCm39)	N256S	probably benign	Het
Wdr7	T	C	18: 63,888,197 (GRCm39)	S557P	probably damaging	Het
Xrra1	C	A	7: 99,547,690 (GRCm39)	P293Q	possibly damaging	Het
Zc3h18	A	G	8: 123,110,388 (GRCm39)	D79G	probably damaging	Het
Zfp74	A	T	7: 29,634,668 (GRCm39)	Y347N	probably damaging	Het
Zfp740	T	C	15: 102,121,082 (GRCm39)	C169R	possibly damaging	Het

Other mutations in Slc45a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AAAGGCTTTCTGGAGCTGTG -3'
(R):5'- AAGAGCGGTTTCTTGCCATG -3'

Sequencing Primer
(F):5'- CTGTGAGAGCAGAGGCAAATAATTAC -3'
(R):5'- CCATGGGCTTCTTTTGTCTGAG -3'

Posted On

2016-07-22