Mutagenetix > Incidental Mutation

Incidental Mutation 'R4703:Tyrp1'

397179

Institutional Source

Beutler Lab

Gene Symbol

Tyrp1

Ensembl Gene

ENSMUSG00000005994

Gene Name

tyrosinase-related protein 1

Synonyms

Oca3, isa, TRP-1, Tyrp, TRP1

MMRRC Submission

041951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R4703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80752360-80769956 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 80759043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006151] [ENSMUST00000102831] [ENSMUST00000133655]

AlphaFold

P07147

Predicted Effect

probably null
Transcript: ENSMUST00000006151

SMART Domains

Protein: ENSMUSP00000006151
Gene: ENSMUSG00000005994

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Tyrosinase	182	417	1.7e-37	PFAM
transmembrane domain	479	501	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000102831

SMART Domains

Protein: ENSMUSP00000099895
Gene: ENSMUSG00000005994

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Tyrosinase	182	417	4.9e-38	PFAM
transmembrane domain	479	501	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133655

SMART Domains

Protein: ENSMUSP00000117080
Gene: ENSMUSG00000005994

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Tyrosinase	182	229	1.1e-7	PFAM

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (98/101)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]
PHENOTYPE: The major influence of mutations at this locus is to change eumelanin from a black to a brown pigment in the coat and eyes in varying degrees. Semidominant mutants result in melanocyte degeneration causing reduced pigmentation and progressive hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	A	13: 59,837,342 (GRCm39)	T248S	possibly damaging	Het
AA986860	T	C	1: 130,671,092 (GRCm39)	V438A	probably benign	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Aox1	T	A	1: 58,398,116 (GRCm39)	F1286I	possibly damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgap5	C	T	12: 52,564,366 (GRCm39)	P446S	probably damaging	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Armc12	A	G	17: 28,751,336 (GRCm39)	D110G	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
B4galt1	A	G	4: 40,823,569 (GRCm39)	V174A	probably benign	Het
Bcl11a	C	A	11: 24,113,725 (GRCm39)	A356E	possibly damaging	Het
Bri3bp	C	T	5: 125,528,830 (GRCm39)	L110F	probably damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Ccdc33	T	A	9: 57,940,953 (GRCm39)	I430F	possibly damaging	Het
Cgn	A	G	3: 94,683,405 (GRCm39)		probably benign	Het
Crbn	T	A	6: 106,759,883 (GRCm39)	I317F	possibly damaging	Het
Cyp2d22	A	C	15: 82,260,118 (GRCm39)	L22R	probably damaging	Het
Dnah7a	C	T	1: 53,486,476 (GRCm39)		probably null	Het
Dnajc12	A	G	10: 63,222,429 (GRCm39)		probably null	Het
Dntt	T	A	19: 41,028,242 (GRCm39)	D179E	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Epn1	T	A	7: 5,098,147 (GRCm39)	D319E	probably damaging	Het
Evpl	C	G	11: 116,113,331 (GRCm39)	R1453P	probably damaging	Het
Focad	T	A	4: 88,260,558 (GRCm39)		probably null	Het
Foxp2	A	T	6: 15,411,247 (GRCm39)	M542L	probably benign	Het
Gak	T	A	5: 108,717,743 (GRCm39)	Q1299L	probably damaging	Het
Galnt5	G	T	2: 57,888,919 (GRCm39)	R173I	possibly damaging	Het
Gli1	G	T	10: 127,166,724 (GRCm39)	P843Q	possibly damaging	Het
Gm5422	G	T	10: 31,125,608 (GRCm39)		noncoding transcript	Het
Gna14	T	G	19: 16,576,344 (GRCm39)	V117G	possibly damaging	Het
Gpr6	T	C	10: 40,947,037 (GRCm39)	T182A	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ifih1	A	T	2: 62,429,220 (GRCm39)	L906H	probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Ighd	A	G	12: 113,379,661 (GRCm39)		probably benign	Het
Ighv11-1	A	C	12: 113,945,622 (GRCm39)	I77R	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Il23r	A	T	6: 67,467,686 (GRCm39)	I27K	probably damaging	Het
Inpp5a	A	C	7: 139,138,839 (GRCm39)	N261T	probably damaging	Het
Ints8	T	G	4: 11,223,785 (GRCm39)	Q686P	possibly damaging	Het
Iqcf4	T	C	9: 106,445,519 (GRCm39)		probably null	Het
Irf2bp1	C	T	7: 18,739,496 (GRCm39)	R379C	possibly damaging	Het
Iws1	C	T	18: 32,213,066 (GRCm39)	P165S	probably benign	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kcna10	A	T	3: 107,101,926 (GRCm39)	I186F	probably benign	Het
Limk2	C	A	11: 3,297,586 (GRCm39)	E329*	probably null	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Notch1	T	G	2: 26,361,170 (GRCm39)	K1107Q	probably benign	Het
Nsd1	T	A	13: 55,361,876 (GRCm39)	D281E	probably damaging	Het
Obi1	A	G	14: 104,743,644 (GRCm39)	L145P	probably benign	Het
Olfml2a	T	A	2: 38,841,250 (GRCm39)	L262Q	probably damaging	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Or4k44	T	A	2: 111,368,113 (GRCm39)	I174L	probably benign	Het
Or51d1	A	T	7: 102,347,477 (GRCm39)	T11S	probably benign	Het
Or6k6	A	G	1: 173,944,964 (GRCm39)	I206T	possibly damaging	Het
Or7c19	A	G	8: 85,957,237 (GRCm39)	T38A	possibly damaging	Het
Otogl	A	C	10: 107,657,785 (GRCm39)	D1048E	probably damaging	Het
Oxnad1	T	C	14: 31,817,427 (GRCm39)	W96R	probably damaging	Het
Pcdh15	A	T	10: 74,285,995 (GRCm39)	D743V	probably damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcnx1	C	T	12: 81,941,938 (GRCm39)	T112I	probably benign	Het
Pctp	T	C	11: 89,878,099 (GRCm39)	E145G	possibly damaging	Het
Pip5k1b	T	C	19: 24,332,517 (GRCm39)	K389R	probably damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Pnlip	T	A	19: 58,664,899 (GRCm39)	D242E	probably damaging	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Rims3	A	T	4: 120,740,494 (GRCm39)		probably benign	Het
Scfd2	T	A	5: 74,680,256 (GRCm39)	Q299L	probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Slc15a5	T	C	6: 138,032,643 (GRCm39)	D237G	probably benign	Het
Slc16a12	T	A	19: 34,652,291 (GRCm39)	H285L	possibly damaging	Het
Sox2	C	A	3: 34,704,862 (GRCm39)	R100S	probably damaging	Het
Sspo	G	A	6: 48,477,387 (GRCm39)	C4969Y	probably damaging	Het
Stxbp2	A	G	8: 3,682,521 (GRCm39)	S37G	probably damaging	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tcf4	A	G	18: 69,790,981 (GRCm39)	Y307C	probably damaging	Het
Thsd7b	A	T	1: 129,977,646 (GRCm39)		probably benign	Het
Tnn	G	T	1: 159,943,815 (GRCm39)	D999E	possibly damaging	Het
Trmt13	C	A	3: 116,388,247 (GRCm39)	W63L	probably benign	Het
Tsc2	T	C	17: 24,823,883 (GRCm39)	N915S	probably benign	Het
Uvrag	A	T	7: 98,638,794 (GRCm39)	I315N	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Vmn2r59	T	A	7: 41,661,686 (GRCm39)	I710L	probably benign	Het
Vmn2r82	A	T	10: 79,214,641 (GRCm39)	H208L	probably damaging	Het
Wtap	T	C	17: 13,199,711 (GRCm39)	T91A	probably benign	Het
Xirp1	A	T	9: 119,846,093 (GRCm39)	V930E	probably damaging	Het
Xpo4	T	G	14: 57,827,565 (GRCm39)	H877P	probably benign	Het

Other mutations in Tyrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Tyrp1	APN	4	80,759,002 (GRCm39)	missense	possibly damaging	0.95
IGL01586:Tyrp1	APN	4	80,763,135 (GRCm39)	missense	probably benign	0.00
IGL01620:Tyrp1	APN	4	80,763,039 (GRCm39)	nonsense	probably null
IGL02126:Tyrp1	APN	4	80,755,845 (GRCm39)	nonsense	probably null
IGL02174:Tyrp1	APN	4	80,763,063 (GRCm39)	nonsense	probably null
IGL02601:Tyrp1	APN	4	80,759,012 (GRCm39)	missense	probably null	0.00
IGL02630:Tyrp1	APN	4	80,758,994 (GRCm39)	missense	possibly damaging	0.95
Browncoat	UTSW	4	80,753,399 (GRCm39)	missense	probably damaging	1.00
butter	UTSW	4	80,759,043 (GRCm39)	critical splice donor site	probably null
ca-los	UTSW	4	80,763,105 (GRCm39)	nonsense	probably null
chi	UTSW	4	80,759,015 (GRCm39)	missense	probably damaging	1.00
R0011:Tyrp1	UTSW	4	80,759,030 (GRCm39)	missense	probably damaging	1.00
R0011:Tyrp1	UTSW	4	80,759,030 (GRCm39)	missense	probably damaging	1.00
R0145:Tyrp1	UTSW	4	80,759,015 (GRCm39)	missense	probably damaging	1.00
R1172:Tyrp1	UTSW	4	80,763,105 (GRCm39)	nonsense	probably null
R1173:Tyrp1	UTSW	4	80,763,105 (GRCm39)	nonsense	probably null
R1175:Tyrp1	UTSW	4	80,763,105 (GRCm39)	nonsense	probably null
R1886:Tyrp1	UTSW	4	80,759,043 (GRCm39)	critical splice donor site	probably null
R2099:Tyrp1	UTSW	4	80,753,616 (GRCm39)	missense	possibly damaging	0.69
R2273:Tyrp1	UTSW	4	80,755,771 (GRCm39)	missense	probably damaging	0.99
R2274:Tyrp1	UTSW	4	80,755,771 (GRCm39)	missense	probably damaging	0.99
R2275:Tyrp1	UTSW	4	80,755,771 (GRCm39)	missense	probably damaging	0.99
R2312:Tyrp1	UTSW	4	80,755,801 (GRCm39)	nonsense	probably null
R2427:Tyrp1	UTSW	4	80,769,108 (GRCm39)	missense	probably benign	0.00
R2440:Tyrp1	UTSW	4	80,764,843 (GRCm39)	missense	probably benign	0.41
R2915:Tyrp1	UTSW	4	80,755,692 (GRCm39)	missense	possibly damaging	0.46
R4343:Tyrp1	UTSW	4	80,768,078 (GRCm39)	missense	possibly damaging	0.92
R4512:Tyrp1	UTSW	4	80,755,749 (GRCm39)	missense	probably damaging	1.00
R4732:Tyrp1	UTSW	4	80,763,172 (GRCm39)	missense	possibly damaging	0.67
R4733:Tyrp1	UTSW	4	80,763,172 (GRCm39)	missense	possibly damaging	0.67
R4788:Tyrp1	UTSW	4	80,763,180 (GRCm39)	nonsense	probably null
R4834:Tyrp1	UTSW	4	80,764,833 (GRCm39)	nonsense	probably null
R4911:Tyrp1	UTSW	4	80,769,144 (GRCm39)	utr 3 prime	probably benign
R4938:Tyrp1	UTSW	4	80,758,883 (GRCm39)	missense	probably damaging	1.00
R5129:Tyrp1	UTSW	4	80,764,844 (GRCm39)	missense	probably damaging	1.00
R5154:Tyrp1	UTSW	4	80,768,954 (GRCm39)	missense	probably benign	0.00
R6249:Tyrp1	UTSW	4	80,769,009 (GRCm39)	missense	possibly damaging	0.93
R6492:Tyrp1	UTSW	4	80,759,018 (GRCm39)	missense	probably null	1.00
R6617:Tyrp1	UTSW	4	80,764,984 (GRCm39)	missense	probably benign	0.24
R6870:Tyrp1	UTSW	4	80,769,014 (GRCm39)	missense	probably benign	0.37
R6990:Tyrp1	UTSW	4	80,753,674 (GRCm39)	missense	probably damaging	1.00
R7275:Tyrp1	UTSW	4	80,755,821 (GRCm39)	missense	possibly damaging	0.78
R7684:Tyrp1	UTSW	4	80,758,862 (GRCm39)	missense	probably damaging	1.00
R7980:Tyrp1	UTSW	4	80,758,864 (GRCm39)	missense	probably damaging	1.00
R8001:Tyrp1	UTSW	4	80,758,907 (GRCm39)	missense	probably benign	0.10
R8051:Tyrp1	UTSW	4	80,755,897 (GRCm39)	missense	probably damaging	1.00
R8233:Tyrp1	UTSW	4	80,769,190 (GRCm39)	missense	unknown
R8326:Tyrp1	UTSW	4	80,768,921 (GRCm39)	missense	probably benign	0.06
R8831:Tyrp1	UTSW	4	80,753,399 (GRCm39)	missense	probably damaging	1.00
R8907:Tyrp1	UTSW	4	80,755,798 (GRCm39)	missense	probably damaging	1.00
R8998:Tyrp1	UTSW	4	80,763,094 (GRCm39)	missense	probably damaging	1.00
R8999:Tyrp1	UTSW	4	80,763,094 (GRCm39)	missense	probably damaging	1.00
R9732:Tyrp1	UTSW	4	80,758,930 (GRCm39)	missense	possibly damaging	0.52
R9751:Tyrp1	UTSW	4	80,759,012 (GRCm39)	missense	probably null	0.00
Z1176:Tyrp1	UTSW	4	80,763,126 (GRCm39)	nonsense	probably null
Z1177:Tyrp1	UTSW	4	80,768,054 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTTAGCAGAAGCAGAGACC -3'
(R):5'- TTCCCAAGAGCACCAGTTAGAC -3'

Sequencing Primer
(F):5'- CTATGATCTAGGAGATGCTGCAG -3'
(R):5'- AGAGCACCAGTTAGACTGCCTTG -3'

Posted On

2016-06-27