Mutagenetix > Incidental Mutation

Incidental Mutation 'R1824:Slc45a2'

206713

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

039852-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1824 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11000807-11029319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11022172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 305 (S305P)

Gene Model

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

AlphaFold

P58355

Predicted Effect

probably damaging
Transcript: ENSMUST00000022851
AA Change: S305P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022851
Gene: ENSMUSG00000022243
AA Change: S305P

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: S305P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112408
Gene: ENSMUSG00000022243
AA Change: S305P

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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	C	10: 70,708,086 (GRCm39)		noncoding transcript	Het
Aadacl2fm1	C	A	3: 59,840,001 (GRCm39)	Y24*	probably null	Het
Abl1	T	A	2: 31,690,656 (GRCm39)	M706K	probably benign	Het
Abtb1	T	C	6: 88,813,536 (GRCm39)	T401A	probably benign	Het
Acd	A	G	8: 106,427,122 (GRCm39)	L96P	probably damaging	Het
Arsi	T	A	18: 61,045,369 (GRCm39)	W20R	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asic3	C	T	5: 24,618,749 (GRCm39)	Q14*	probably null	Het
Asxl3	T	A	18: 22,655,125 (GRCm39)	I1045N	probably damaging	Het
Atr	T	C	9: 95,818,474 (GRCm39)	I2149T	probably damaging	Het
Begain	A	G	12: 108,999,025 (GRCm39)		probably null	Het
Brca2	C	T	5: 150,460,387 (GRCm39)	T554I	possibly damaging	Het
Brd10	T	C	19: 29,693,814 (GRCm39)	N1960S	probably damaging	Het
C1s2	C	T	6: 124,612,641 (GRCm39)	V11I	probably benign	Het
Cacna1i	T	C	15: 80,260,990 (GRCm39)	F1333L	possibly damaging	Het
Camsap2	T	C	1: 136,201,521 (GRCm39)	T662A	possibly damaging	Het
Cep164	C	T	9: 45,690,226 (GRCm39)	V1367M	probably damaging	Het
Cfap46	C	A	7: 139,219,518 (GRCm39)	A1316S	probably benign	Het
Cic	T	C	7: 24,987,691 (GRCm39)	S553P	probably damaging	Het
Cilk1	T	A	9: 78,065,144 (GRCm39)	D351E	probably benign	Het
Clcn2	C	T	16: 20,534,712 (GRCm39)	A12T	probably benign	Het
Clip2	A	G	5: 134,532,081 (GRCm39)	Y540H	probably benign	Het
Coil	A	G	11: 88,872,923 (GRCm39)	N428S	possibly damaging	Het
Cpxm1	A	C	2: 130,237,617 (GRCm39)	V196G	probably damaging	Het
Cr2	A	G	1: 194,839,624 (GRCm39)	V601A	probably damaging	Het
Cyp3a25	T	A	5: 145,921,763 (GRCm39)	K390N	probably damaging	Het
Dclre1a	T	C	19: 56,535,150 (GRCm39)		probably null	Het
Dennd4a	G	C	9: 64,766,640 (GRCm39)		probably null	Het
Dlg5	T	C	14: 24,199,512 (GRCm39)	H1464R	probably benign	Het
Dmac2	T	G	7: 25,324,217 (GRCm39)	M225R	probably damaging	Het
Dnah8	T	C	17: 30,950,154 (GRCm39)	V1991A	possibly damaging	Het
Dscam	A	C	16: 96,626,781 (GRCm39)	V376G	probably benign	Het
Dync1li1	A	G	9: 114,538,252 (GRCm39)	D203G	probably benign	Het
Eva1c	A	G	16: 90,663,331 (GRCm39)	T22A	probably benign	Het
Fam110b	A	G	4: 5,799,029 (GRCm39)	D149G	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Fsip1	T	C	2: 118,063,389 (GRCm39)	D360G	probably damaging	Het
Galnt14	T	C	17: 74,016,934 (GRCm39)	T41A	probably benign	Het
Gdf3	T	A	6: 122,586,921 (GRCm39)	Q2L	probably benign	Het
Glrp1	A	G	1: 88,437,511 (GRCm39)		probably null	Het
Gm3336	C	G	8: 71,173,066 (GRCm39)		probably null	Het
Gm8674	C	T	13: 50,054,844 (GRCm39)		noncoding transcript	Het
Gnat1	A	G	9: 107,553,774 (GRCm39)	Y226H	probably damaging	Het
Grk5	T	C	19: 61,078,410 (GRCm39)	V489A	probably damaging	Het
H1f8	A	G	6: 115,925,719 (GRCm39)	Y1C	probably null	Het
Igfbpl1	C	A	4: 45,826,406 (GRCm39)	A130S	probably benign	Het
Impdh1	T	A	6: 29,205,087 (GRCm39)	D261V	probably benign	Het
Itgal	T	A	7: 126,913,232 (GRCm39)	S610T	probably damaging	Het
Jcad	A	G	18: 4,649,293 (GRCm39)	T55A	probably benign	Het
Jup	G	A	11: 100,264,963 (GRCm39)	R663*	probably null	Het
Kalrn	C	T	16: 34,114,585 (GRCm39)	G556D	probably damaging	Het
Krt81	T	C	15: 101,358,020 (GRCm39)	E411G	probably damaging	Het
Lcat	T	C	8: 106,666,520 (GRCm39)	E334G	probably damaging	Het
Lhcgr	T	C	17: 89,057,585 (GRCm39)	E302G	probably benign	Het
Magi1	A	G	6: 93,676,620 (GRCm39)	V913A	possibly damaging	Het
Mrpl19	A	T	6: 81,941,060 (GRCm39)		probably null	Het
Muc4	G	T	16: 32,576,307 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,489,945 (GRCm39)	V953A	possibly damaging	Het
Myo3a	G	A	2: 22,401,054 (GRCm39)	V600I	probably benign	Het
Ndufv3	G	A	17: 31,750,219 (GRCm39)	R467Q	probably damaging	Het
Ngef	A	G	1: 87,430,986 (GRCm39)		probably null	Het
Nisch	A	T	14: 30,898,389 (GRCm39)		probably benign	Het
Nlrp4c	G	A	7: 6,069,955 (GRCm39)		probably null	Het
Nup153	A	T	13: 46,867,223 (GRCm39)	S154T	probably damaging	Het
Obscn	A	G	11: 58,885,658 (GRCm39)		probably benign	Het
Or2t1	T	A	14: 14,328,774 (GRCm38)	L221Q	probably damaging	Het
Or4a74	G	T	2: 89,439,693 (GRCm39)	P251H	probably damaging	Het
Or6c219	T	C	10: 129,781,206 (GRCm39)	M242V	possibly damaging	Het
Otogl	T	C	10: 107,615,692 (GRCm39)	N1869S	probably benign	Het
Phf24	G	T	4: 42,934,661 (GRCm39)	C136F	probably damaging	Het
Phldb2	A	T	16: 45,646,374 (GRCm39)	V65E	probably benign	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Prl8a8	A	T	13: 27,692,433 (GRCm39)	M186K	probably damaging	Het
Qars1	T	C	9: 108,391,809 (GRCm39)	V70A	probably damaging	Het
Rac1	C	T	5: 143,502,980 (GRCm39)	V14I	probably benign	Het
Rapgef5	T	A	12: 117,652,419 (GRCm39)		probably null	Het
Slc16a12	G	A	19: 34,648,278 (GRCm39)	T405M	possibly damaging	Het
Slc17a6	A	G	7: 51,311,294 (GRCm39)	Y336C	probably damaging	Het
Slc30a9	T	C	5: 67,505,395 (GRCm39)	L441P	probably damaging	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Sp1	T	G	15: 102,339,438 (GRCm39)	S773A	possibly damaging	Het
Spen	C	A	4: 141,200,096 (GRCm39)	G2821C	probably damaging	Het
Tagap1	A	G	17: 7,223,425 (GRCm39)	S424P	probably benign	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Tfec	C	T	6: 16,840,467 (GRCm39)		probably null	Het
Thsd7a	A	T	6: 12,409,041 (GRCm39)		probably null	Het
Tnfsf15	C	A	4: 63,651,588 (GRCm39)	G112V	probably benign	Het
Tnfsf9	A	G	17: 57,412,738 (GRCm39)	T103A	probably benign	Het
Tnxb	C	T	17: 34,911,307 (GRCm39)	R1537*	probably null	Het
Tpra1	A	G	6: 88,888,805 (GRCm39)	N329S	probably benign	Het
Ttc12	A	G	9: 49,368,184 (GRCm39)	F281S	probably damaging	Het
Unc79	A	G	12: 103,025,579 (GRCm39)	N322S	probably damaging	Het
Unk	G	T	11: 115,921,268 (GRCm39)		probably benign	Het
Usp4	G	T	9: 108,225,207 (GRCm39)	G31W	probably damaging	Het
Vcan	G	T	13: 89,853,331 (GRCm39)	A543D	possibly damaging	Het
Vil1	A	C	1: 74,457,606 (GRCm39)	I80L	probably benign	Het
Vmn2r27	C	T	6: 124,208,593 (GRCm39)	G51S	probably benign	Het
Vpreb1a	A	G	16: 16,686,935 (GRCm39)		probably null	Het
Zbtb6	C	T	2: 37,319,829 (GRCm39)	C33Y	probably damaging	Het
Zfp330	A	T	8: 83,492,644 (GRCm39)	C189*	probably null	Het
Zfp942	T	A	17: 22,147,522 (GRCm39)	H369L	probably damaging	Het
Zfp943	T	A	17: 22,211,361 (GRCm39)	I149K	probably benign	Het
Zfyve19	G	A	2: 119,042,016 (GRCm39)	V162M	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
R1616:Slc45a2	UTSW	15	11,022,214 (GRCm39)	missense	probably null	0.01
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'- CAGGGAGTTGAATAGCAATCTGTG -3'
(R):5'- ATCTATTGCACAGGCCAGAC -3'

Sequencing Primer
(F):5'- CATCACACAGTTGTAGTGGTCAG -3'
(R):5'- CAAGAGTGTGGGCATATGCATCC -3'

Posted On

2014-06-23