Incidental Mutation 'R2273:Tyrp1'
| ID |
242632 |
| 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 |
040273-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R2273 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
80752360-80769956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80755771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 180
(E180V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006151]
[ENSMUST00000102831]
[ENSMUST00000133655]
|
| AlphaFold |
P07147 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006151
AA Change: E180V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000006151
Gene: ENSMUSG00000005994
AA Change: E180V
| 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: E180V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099895
Gene: ENSMUSG00000005994
AA Change: E180V
| 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 damaging
Transcript: ENSMUST00000133655
AA Change: E180V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117080
Gene: ENSMUSG00000005994
AA Change: E180V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Tyrosinase
|
182 |
229 |
1.1e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
T |
11: 99,728,667 (GRCm39) |
C59S |
possibly damaging |
Het |
| Abca5 |
A |
T |
11: 110,166,107 (GRCm39) |
N1556K |
possibly damaging |
Het |
| Ackr1 |
T |
C |
1: 173,160,052 (GRCm39) |
N156D |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,786,772 (GRCm39) |
|
probably null |
Het |
| Arhgef7 |
T |
A |
8: 11,865,010 (GRCm39) |
F374Y |
possibly damaging |
Het |
| Atp11b |
A |
G |
3: 35,882,762 (GRCm39) |
I606V |
probably benign |
Het |
| Atp6v1h |
T |
A |
1: 5,187,699 (GRCm39) |
D222E |
probably damaging |
Het |
| Bco1 |
G |
A |
8: 117,835,522 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
T |
A |
11: 94,306,762 (GRCm39) |
E1842V |
probably damaging |
Het |
| Calhm3 |
T |
A |
19: 47,145,986 (GRCm39) |
Q73L |
probably damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,268,601 (GRCm39) |
E1200K |
probably damaging |
Het |
| Cdr2 |
A |
T |
7: 120,557,732 (GRCm39) |
H264Q |
possibly damaging |
Het |
| Cecr2 |
C |
T |
6: 120,733,702 (GRCm39) |
S563L |
probably benign |
Het |
| Cfh |
C |
T |
1: 140,030,563 (GRCm39) |
V824M |
probably damaging |
Het |
| Ciapin1 |
A |
T |
8: 95,558,415 (GRCm39) |
V99E |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Cpxm2 |
TGCAGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAGCAG |
7: 131,661,581 (GRCm39) |
|
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,662,608 (GRCm39) |
|
probably null |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
| Dnlz |
A |
T |
2: 26,241,483 (GRCm39) |
C82S |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,705,184 (GRCm39) |
D119G |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,826,558 (GRCm39) |
T4465A |
probably benign |
Het |
| Fdxacb1 |
A |
G |
9: 50,683,321 (GRCm39) |
E428G |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,653,102 (GRCm39) |
G1296R |
probably null |
Het |
| Gm11568 |
A |
G |
11: 99,749,070 (GRCm39) |
S92G |
unknown |
Het |
| Gpr158 |
A |
T |
2: 21,831,674 (GRCm39) |
M925L |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,008,187 (GRCm39) |
M1595T |
probably benign |
Het |
| Hoxd1 |
A |
G |
2: 74,594,501 (GRCm39) |
K252R |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,726,393 (GRCm39) |
K684E |
possibly damaging |
Het |
| Iqck |
G |
A |
7: 118,498,880 (GRCm39) |
D173N |
possibly damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,077,226 (GRCm39) |
N343D |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,696,327 (GRCm39) |
V652D |
possibly damaging |
Het |
| Lrig1 |
A |
T |
6: 94,585,124 (GRCm39) |
D840E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,892,696 (GRCm39) |
S318P |
probably damaging |
Het |
| Map1b |
A |
C |
13: 99,568,592 (GRCm39) |
D1376E |
unknown |
Het |
| Marchf1 |
T |
A |
8: 66,840,151 (GRCm39) |
N311K |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,368 (GRCm39) |
I321V |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,330,183 (GRCm39) |
R1264Q |
probably damaging |
Het |
| Nrarp |
T |
C |
2: 25,071,421 (GRCm39) |
V100A |
possibly damaging |
Het |
| Nt5c1a |
T |
C |
4: 123,109,873 (GRCm39) |
F324S |
probably damaging |
Het |
| Odad2 |
C |
A |
18: 7,223,676 (GRCm39) |
G456W |
probably benign |
Het |
| Or2t44 |
T |
C |
11: 58,677,492 (GRCm39) |
V144A |
probably benign |
Het |
| Or5d41 |
A |
G |
2: 88,055,167 (GRCm39) |
F70L |
probably benign |
Het |
| Or5g29 |
G |
T |
2: 85,420,932 (GRCm39) |
G16V |
probably damaging |
Het |
| Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
| Pcdhb4 |
C |
T |
18: 37,441,979 (GRCm39) |
L430F |
probably damaging |
Het |
| Ptpn2 |
T |
G |
18: 67,810,872 (GRCm39) |
M256L |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,111,367 (GRCm39) |
R71H |
probably damaging |
Het |
| Rrm2b |
T |
A |
15: 37,945,295 (GRCm39) |
D148V |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc12a3 |
T |
A |
8: 95,059,915 (GRCm39) |
I187N |
possibly damaging |
Het |
| Slc46a1 |
T |
G |
11: 78,357,249 (GRCm39) |
S101A |
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,209,364 (GRCm39) |
|
probably null |
Het |
| Sult1d1 |
T |
G |
5: 87,703,887 (GRCm39) |
N266T |
probably damaging |
Het |
| Tjp2 |
G |
T |
19: 24,090,171 (GRCm39) |
H624N |
probably benign |
Het |
| Tmcc3 |
G |
A |
10: 94,414,777 (GRCm39) |
V160I |
probably damaging |
Het |
| Tsr1 |
A |
T |
11: 74,795,653 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,846,685 (GRCm39) |
V1636A |
probably benign |
Het |
| Usp1 |
T |
C |
4: 98,818,079 (GRCm39) |
L139P |
probably damaging |
Het |
| Vldlr |
A |
T |
19: 27,225,415 (GRCm39) |
T859S |
probably damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,477,593 (GRCm39) |
M273L |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 128,856,629 (GRCm39) |
Y570H |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,565 (GRCm39) |
S645G |
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 |
|
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'- GCATAGCATGTTGGAATATGATTGTGC -3'
(R):5'- TGTGAGTTACATGGAGGGACC -3'
Sequencing Primer
(F):5'- CTTGGATATGGCGAAGC -3'
(R):5'- TTACATGGAGGGACCTAAAAACC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation