Mutagenetix > Incidental Mutation

Incidental Mutation 'R2440:Tyrp1'

249755

Institutional Source

Beutler Lab

Gene Symbol

Tyrp1

Ensembl Gene

ENSMUSG00000005994

Gene Name

tyrosinase-related protein 1

Synonyms

Oca3, isa, TRP-1, Tyrp, TRP1

Accession Numbers

Essential gene?

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

Stock #

R2440 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80752360-80769956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80764843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 7 (V7I)

Ref Sequence

ENSEMBL: ENSMUSP00000119167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006151] [ENSMUST00000102831] [ENSMUST00000133932]

AlphaFold

P07147

Predicted Effect

probably benign
Transcript: ENSMUST00000006151
AA Change: V373I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000006151
Gene: ENSMUSG00000005994
AA Change: V373I

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 benign
Transcript: ENSMUST00000102831
AA Change: V373I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099895
Gene: ENSMUSG00000005994
AA Change: V373I

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: ENSMUST00000133932
AA Change: V7I

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119167
Gene: ENSMUSG00000005994
AA Change: V7I

Domain	Start	End	E-Value	Type
Pfam:Tyrosinase	1	51	1e-12	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,888,129 (GRCm39)	T104A	probably benign	Het
Adar	A	G	3: 89,642,161 (GRCm39)	H14R	possibly damaging	Het
Albfm1	A	G	5: 90,720,548 (GRCm39)		probably null	Het
Alcam	T	A	16: 52,125,976 (GRCm39)	M114L	probably damaging	Het
Ccn4	T	A	15: 66,784,706 (GRCm39)	D126E	possibly damaging	Het
Cntn5	A	G	9: 10,171,960 (GRCm39)	Y75H	possibly damaging	Het
Coch	T	C	12: 51,643,345 (GRCm39)	S122P	probably damaging	Het
Cyp2c69	T	C	19: 39,864,738 (GRCm39)	K247E	probably benign	Het
Gm1527	A	G	3: 28,949,764 (GRCm39)	D8G	probably damaging	Het
Gpat3	C	T	5: 101,005,039 (GRCm39)	P58L	probably benign	Het
Itga8	G	A	2: 12,183,491 (GRCm39)	T751I	possibly damaging	Het
Kif5a	A	G	10: 127,067,205 (GRCm39)	V904A	probably benign	Het
Lpgat1	A	G	1: 191,492,321 (GRCm39)	E269G	probably benign	Het
Or12j5	T	A	7: 140,083,465 (GRCm39)	K302N	probably benign	Het
Pde4d	A	G	13: 110,063,731 (GRCm39)		probably benign	Het
Rita1	T	C	5: 120,748,004 (GRCm39)	Y98C	probably damaging	Het
Surf1	A	G	2: 26,803,919 (GRCm39)		probably null	Het
Sv2c	A	G	13: 96,185,084 (GRCm39)	Y198H	probably damaging	Het
Svs3a	T	C	2: 164,131,551 (GRCm39)	F41L	possibly damaging	Het
Tigd2	A	G	6: 59,186,980 (GRCm39)		probably benign	Het
Tubb4a	C	A	17: 57,393,285 (GRCm39)	G38W	probably damaging	Het
Unc45a	A	G	7: 79,978,805 (GRCm39)	Y615H	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
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
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'- TTGCTCTAGAGAGGCAACAC -3'
(R):5'- TGTCAAGGGCTAGCTTGAATTG -3'

Sequencing Primer
(F):5'- GGCAACACTGTTATAATGAGCTG -3'
(R):5'- GGTAAGCTCTTTGCAAAGCC -3'

Posted On

2014-11-12