Mutagenetix > Incidental Mutation

Incidental Mutation 'R0145:Tyrp1'

22554

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

038430-MU

Accession Numbers

Essential gene?

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

Stock #

R0145 (G1) of strain 722

Quality Score

177

Status

Validated (trace)

Chromosome

Chromosomal Location

80752360-80769956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80759015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 296 (Y296C)

Ref Sequence

ENSEMBL: ENSMUSP00000099895 (fasta)

Gene Model

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

AlphaFold

P07147

Predicted Effect

probably damaging
Transcript: ENSMUST00000006151
AA Change: Y296C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006151
Gene: ENSMUSG00000005994
AA Change: Y296C

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 damaging
Transcript: ENSMUST00000102831
AA Change: Y296C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099895
Gene: ENSMUSG00000005994
AA Change: Y296C

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

0.9445

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 93.7%
20x: 82.1%

Validation Efficiency

96% (109/113)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,437,783 (GRCm39)	E64G	probably damaging	Het
Actr6	A	T	10: 89,564,040 (GRCm39)	Y77*	probably null	Het
Aldoart1	A	T	4: 72,769,576 (GRCm39)	S411T	probably benign	Het
Aqp1	C	T	6: 55,323,672 (GRCm39)	R234C	probably damaging	Het
Arsb	G	A	13: 93,998,795 (GRCm39)	G368R	possibly damaging	Het
Asxl3	G	A	18: 22,586,662 (GRCm39)	A151T	probably damaging	Het
Bcas3	T	C	11: 85,250,436 (GRCm39)		probably benign	Het
Bmpr2	AACACA	AACA	1: 59,906,739 (GRCm39)		probably null	Het
Bst1	A	G	5: 43,976,414 (GRCm39)	Y49C	probably damaging	Het
Btrc	T	A	19: 45,411,612 (GRCm39)	L12Q	probably damaging	Het
Cd248	T	C	19: 5,119,051 (GRCm39)	F300L	possibly damaging	Het
Cdk11b	G	T	4: 155,726,076 (GRCm39)		probably benign	Het
Cfap410	T	C	10: 77,819,390 (GRCm39)	S196P	probably benign	Het
Cfap44	A	T	16: 44,288,735 (GRCm39)	D1495V	probably damaging	Het
Chil3	T	A	3: 106,067,794 (GRCm39)	I124F	probably damaging	Het
Cnot2	A	T	10: 116,353,273 (GRCm39)	S63T	possibly damaging	Het
Cox8a	G	T	19: 7,192,783 (GRCm39)	H61N	probably benign	Het
Cpne9	T	C	6: 113,277,562 (GRCm39)	V427A	probably damaging	Het
Ctsll3	C	A	13: 60,946,409 (GRCm39)	G301C	probably damaging	Het
Cubn	T	A	2: 13,311,243 (GRCm39)	D3094V	probably damaging	Het
Cyba	A	T	8: 123,153,977 (GRCm39)	M65K	possibly damaging	Het
Cyp4f39	T	A	17: 32,705,934 (GRCm39)	S342T	possibly damaging	Het
Daam2	T	C	17: 49,787,806 (GRCm39)	I436V	probably benign	Het
Daglb	T	C	5: 143,460,363 (GRCm39)		probably benign	Het
Dnah7b	T	G	1: 46,262,338 (GRCm39)	L2067R	probably damaging	Het
Ep300	T	C	15: 81,500,328 (GRCm39)		probably null	Het
Esm1	A	G	13: 113,353,230 (GRCm39)	N171D	probably damaging	Het
Fbxl2	T	C	9: 113,814,393 (GRCm39)	E266G	probably damaging	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
H2-Q2	A	G	17: 35,564,152 (GRCm39)	D302G	probably benign	Het
Hacd3	A	T	9: 64,911,524 (GRCm39)		probably benign	Het
Kbtbd6	T	A	14: 79,690,464 (GRCm39)	N386K	probably benign	Het
Lct	T	C	1: 128,255,632 (GRCm39)	M137V	probably benign	Het
Lilrb4b	T	G	10: 51,360,614 (GRCm39)	N176K	probably benign	Het
Macf1	T	A	4: 123,281,190 (GRCm39)	H4340L	probably damaging	Het
Mcidas	A	G	13: 113,130,906 (GRCm39)	D77G	probably damaging	Het
Mmrn1	C	A	6: 60,949,994 (GRCm39)	Q315K	probably damaging	Het
Mon2	C	A	10: 122,849,417 (GRCm39)	L1294F	possibly damaging	Het
Muc5ac	A	G	7: 141,349,012 (GRCm39)	T483A	possibly damaging	Het
Nacc1	T	C	8: 85,401,504 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ngef	A	G	1: 87,468,370 (GRCm39)		probably benign	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Ogfod3	A	T	11: 121,085,896 (GRCm39)		probably benign	Het
Or6c8	A	T	10: 128,915,232 (GRCm39)	V200E	probably damaging	Het
Or8i2	A	C	2: 86,852,134 (GRCm39)	Y251*	probably null	Het
Parpbp	T	C	10: 87,928,871 (GRCm39)	Y523C	possibly damaging	Het
Pik3cg	C	A	12: 32,254,321 (GRCm39)	L555F	probably benign	Het
Pkp3	T	G	7: 140,669,676 (GRCm39)		probably null	Het
Pole	G	T	5: 110,472,291 (GRCm39)	R1518L	probably damaging	Het
Prkab1	T	C	5: 116,156,144 (GRCm39)		probably benign	Het
Prrc2a	T	C	17: 35,374,796 (GRCm39)	T1285A	probably benign	Het
Pus1	C	A	5: 110,922,720 (GRCm39)	V222L	probably benign	Het
Rab11fip1	A	G	8: 27,633,352 (GRCm39)	L1118P	probably damaging	Het
Ranbp2	T	A	10: 58,315,868 (GRCm39)	I2196N	probably damaging	Het
Rims3	T	C	4: 120,744,223 (GRCm39)	L151P	probably damaging	Het
Rnf130	A	G	11: 49,962,046 (GRCm39)	D164G	possibly damaging	Het
Rps6ka2	C	A	17: 7,529,585 (GRCm39)	L293I	probably benign	Het
Ruvbl1	A	G	6: 88,461,441 (GRCm39)	T269A	possibly damaging	Het
Sema4a	A	T	3: 88,358,729 (GRCm39)	I10N	probably damaging	Het
Serpinb6e	A	T	13: 34,025,043 (GRCm39)	S83T	probably benign	Het
Slc12a9	C	A	5: 137,313,550 (GRCm39)	W803L	probably damaging	Het
Slc3a2	A	G	19: 8,685,437 (GRCm39)	S188P	probably damaging	Het
Slc7a13	G	A	4: 19,818,782 (GRCm39)		probably benign	Het
Spart	A	T	3: 55,035,092 (GRCm39)	K493*	probably null	Het
Spata31e2	A	G	1: 26,726,413 (GRCm39)	M32T	probably benign	Het
Sun1	T	C	5: 139,227,166 (GRCm39)	V574A	probably damaging	Het
Supt6	A	G	11: 78,099,062 (GRCm39)	V1603A	probably benign	Het
Tgm5	A	G	2: 120,908,062 (GRCm39)	V38A	possibly damaging	Het
Tm6sf2	T	C	8: 70,530,518 (GRCm39)		probably benign	Het
Tnfaip2	T	A	12: 111,412,292 (GRCm39)	V231E	possibly damaging	Het
Tube1	T	A	10: 39,021,598 (GRCm39)	M281K	possibly damaging	Het
Tubgcp3	A	G	8: 12,707,561 (GRCm39)	Y143H	probably benign	Het
Utp4	A	G	8: 107,621,301 (GRCm39)	N26S	probably benign	Het
Vgf	T	A	5: 137,060,336 (GRCm39)		probably benign	Het
Zfat	T	C	15: 68,058,948 (GRCm39)	K196E	possibly damaging	Het
Zfp366	G	T	13: 99,366,048 (GRCm39)	S403I	probably damaging	Het
Zfp462	G	A	4: 55,010,529 (GRCm39)	G832R	probably damaging	Het
Zfp955a	T	A	17: 33,461,430 (GRCm39)	Q234L	probably damaging	Het
Zup1	T	C	10: 33,819,709 (GRCm39)	T202A	probably damaging	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
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
R4703:Tyrp1	UTSW	4	80,759,043 (GRCm39)	critical splice donor site	probably null
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'- ACACACTCACTGACTCCTTAGCAGG -3'
(R):5'- GGTGCTTAACGTGCAACTGCATTG -3'

Posted On

2013-04-16