Mutagenetix > Incidental Mutation

Incidental Mutation 'R1616:Slc45a2'

174298

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

039653-MU

Accession Numbers

Essential gene?

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

Stock #

R1616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11000807-11029319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11022214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 319 (C319S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117100]

AlphaFold

P58355

Predicted Effect

probably null
Transcript: ENSMUST00000022851
AA Change: C319S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000022851
Gene: ENSMUSG00000022243
AA Change: C319S

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 null
Transcript: ENSMUST00000117100
AA Change: C319S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112408
Gene: ENSMUSG00000022243
AA Change: C319S

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

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.3%
20x: 85.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	T	C	10: 20,187,087 (GRCm39)		probably benign	Het
A1cf	A	G	19: 31,912,175 (GRCm39)	E430G	probably damaging	Het
Aacs	T	A	5: 125,561,590 (GRCm39)		probably null	Het
Acot12	G	A	13: 91,920,886 (GRCm39)	V331I	probably benign	Het
Acp7	A	G	7: 28,310,503 (GRCm39)	W445R	probably damaging	Het
Actl11	C	A	9: 107,809,135 (GRCm39)	Q1153K	probably benign	Het
Actr8	A	G	14: 29,704,601 (GRCm39)	T34A	possibly damaging	Het
Ahnak	A	G	19: 8,986,351 (GRCm39)	D2545G	possibly damaging	Het
Ap5z1	A	G	5: 142,457,991 (GRCm39)	Y388C	probably benign	Het
Apol7a	C	T	15: 77,273,806 (GRCm39)	G219S	probably damaging	Het
Arid1b	T	A	17: 5,389,569 (GRCm39)	I1705N	probably damaging	Het
Bod1l	T	C	5: 41,966,058 (GRCm39)	Q2669R	probably benign	Het
Braf	A	T	6: 39,620,067 (GRCm39)	S504T	probably benign	Het
Cbl	A	T	9: 44,064,197 (GRCm39)	Y780N	probably damaging	Het
Cd86	T	C	16: 36,449,338 (GRCm39)	I20V	probably benign	Het
Cep290	T	G	10: 100,404,698 (GRCm39)	D2353E	probably benign	Het
Ckmt2	G	A	13: 92,007,328 (GRCm39)	R289C	probably benign	Het
Col3a1	T	C	1: 45,367,648 (GRCm39)		probably null	Het
Cyp4f16	T	A	17: 32,761,942 (GRCm39)	Y163*	probably null	Het
Dimt1	T	C	13: 107,089,958 (GRCm39)	V227A	possibly damaging	Het
Dnah6	A	T	6: 73,077,095 (GRCm39)	M2338K	probably benign	Het
Dock4	T	G	12: 40,719,044 (GRCm39)	I274S	probably damaging	Het
Enthd1	T	C	15: 80,336,586 (GRCm39)	D616G	probably damaging	Het
Fignl2	T	C	15: 100,951,997 (GRCm39)	E95G	probably damaging	Het
Foxn1	A	G	11: 78,249,692 (GRCm39)	M611T	probably benign	Het
Foxs1	T	C	2: 152,774,559 (GRCm39)	S165G	probably benign	Het
Fzd3	G	T	14: 65,472,956 (GRCm39)	Q271K	probably benign	Het
Hadhb	A	T	5: 30,371,713 (GRCm39)	I55F	probably damaging	Het
Hipk3	G	A	2: 104,264,090 (GRCm39)	Q824*	probably null	Het
Hps1	G	A	19: 42,755,624 (GRCm39)	R201W	probably damaging	Het
Kif21b	T	C	1: 136,099,423 (GRCm39)	S1477P	probably damaging	Het
Kif26a	A	T	12: 112,123,680 (GRCm39)		probably null	Het
Krt90	T	C	15: 101,469,026 (GRCm39)	E172G	possibly damaging	Het
Lama4	T	G	10: 38,951,446 (GRCm39)	F1064V	probably damaging	Het
Leng9	A	G	7: 4,151,902 (GRCm39)	V258A	probably benign	Het
Lgi2	A	C	5: 52,703,980 (GRCm39)	V217G	probably benign	Het
Lpgat1	T	C	1: 191,495,741 (GRCm39)	I310T	possibly damaging	Het
Ltbp3	A	G	19: 5,796,995 (GRCm39)	Y374C	probably damaging	Het
Magi2	C	A	5: 20,814,324 (GRCm39)	T1075K	probably damaging	Het
Man2c1	T	C	9: 57,042,793 (GRCm39)	I221T	probably benign	Het
Mydgf	A	G	17: 56,486,415 (GRCm39)	M72T	possibly damaging	Het
Myo1b	T	C	1: 51,815,474 (GRCm39)	N624S	probably damaging	Het
Myo5c	T	A	9: 75,203,299 (GRCm39)	M1465K	probably damaging	Het
Nek4	A	T	14: 30,709,094 (GRCm39)	D716V	probably damaging	Het
Nfxl1	T	A	5: 72,686,380 (GRCm39)	Q607L	probably benign	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Nop14	G	T	5: 34,807,757 (GRCm39)	Q402K	possibly damaging	Het
Npy5r	C	G	8: 67,134,052 (GRCm39)	C247S	probably damaging	Het
Nrap	T	A	19: 56,378,255 (GRCm39)	I19F	probably damaging	Het
Or4c102	A	G	2: 88,422,352 (GRCm39)	D68G	probably damaging	Het
Or51t4	T	A	7: 102,597,721 (GRCm39)	N16K	probably damaging	Het
Or6z3	T	G	7: 6,463,744 (GRCm39)	S79A	probably damaging	Het
Pcdh9	A	T	14: 94,124,405 (GRCm39)	Y588*	probably null	Het
Ppp1r12a	A	G	10: 108,096,728 (GRCm39)	E183G	probably damaging	Het
Ppp2r2b	T	A	18: 42,821,375 (GRCm39)	H261L	probably benign	Het
Ptch1	G	T	13: 63,687,656 (GRCm39)	T374K	possibly damaging	Het
Ptpn13	A	T	5: 103,713,103 (GRCm39)	N1742I	possibly damaging	Het
Rab33a	C	T	X: 47,608,521 (GRCm39)	S15L	probably benign	Het
Ralb	T	C	1: 119,405,744 (GRCm39)	Y75C	probably damaging	Het
Rassf7	T	A	7: 140,796,645 (GRCm39)	V2D	probably damaging	Het
Rbm10	A	G	X: 20,512,230 (GRCm39)	N397S	probably benign	Het
Rbm15	T	C	3: 107,238,197 (GRCm39)	T734A	probably benign	Het
Rbm8a	G	T	3: 96,539,046 (GRCm39)		probably benign	Het
Rock2	T	C	12: 17,022,986 (GRCm39)	I1095T	probably benign	Het
Rxfp3	T	A	15: 11,036,389 (GRCm39)	T328S	probably damaging	Het
Sec31a	T	A	5: 100,534,054 (GRCm39)	K505N	possibly damaging	Het
Selenof	A	G	3: 144,302,642 (GRCm39)	*122W	probably null	Het
Sh3pxd2b	T	C	11: 32,331,441 (GRCm39)	M55T	possibly damaging	Het
Slc15a2	T	C	16: 36,574,843 (GRCm39)	D522G	probably benign	Het
Slc2a1	T	C	4: 118,993,503 (GRCm39)	F447L	probably damaging	Het
Smad4	T	C	18: 73,773,333 (GRCm39)	D551G	probably benign	Het
Smarcc2	A	G	10: 128,318,662 (GRCm39)	Y648C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Stab2	A	T	10: 86,721,582 (GRCm39)		probably null	Het
Tanc1	A	G	2: 59,615,731 (GRCm39)	D246G	probably damaging	Het
Tekt3	T	G	11: 62,978,024 (GRCm39)		probably null	Het
Them5	G	A	3: 94,253,567 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,717 (GRCm39)	F170Y	probably damaging	Het
Tmem214	T	G	5: 31,028,907 (GRCm39)	Y165*	probably null	Het
Tmem94	T	C	11: 115,686,971 (GRCm39)		probably null	Het
Tom1l1	A	G	11: 90,547,177 (GRCm39)	L301S	possibly damaging	Het
Trpm3	A	G	19: 22,960,076 (GRCm39)	E1237G	probably damaging	Het
Ube2d1	C	A	10: 71,092,523 (GRCm39)	C107F	probably damaging	Het
Ugt3a1	C	T	15: 9,306,330 (GRCm39)	R160*	probably null	Het
Vcan	G	A	13: 89,853,782 (GRCm39)	P393S	probably damaging	Het
Virma	T	C	4: 11,544,954 (GRCm39)	F1638L	probably damaging	Het
Vmn1r31	G	A	6: 58,449,043 (GRCm39)	T274I	probably damaging	Het
Xylt2	C	T	11: 94,559,035 (GRCm39)	S445N	probably damaging	Het
Zfp457	A	G	13: 67,444,375 (GRCm39)	F43L	possibly damaging	Het
Zfp879	T	A	11: 50,723,473 (GRCm39)	M455L	probably benign	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
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
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'- TTACTGGAGAGCAGGCACCTAGTC -3'
(R):5'- GCGTGTAGCAGCCTACTTCTTGAAC -3'

Sequencing Primer
(F):5'- ggtcagaagtgttggtggg -3'
(R):5'- TAGCAGCCTACTTCTTGAACTGTAAC -3'

Posted On

2014-04-24