Incidental Mutation 'R1802:Oca2'
ID |
203211 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oca2
|
Ensembl Gene |
ENSMUSG00000030450 |
Gene Name |
oculocutaneous albinism II |
Synonyms |
p, D7H15S12, D7H15S12 |
MMRRC Submission |
039832-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R1802 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
55889508-56186266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55904728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 65
(S65G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032633]
[ENSMUST00000144739]
[ENSMUST00000152693]
[ENSMUST00000155533]
[ENSMUST00000156886]
|
AlphaFold |
Q62052 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032633
AA Change: S65G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032633 Gene: ENSMUSG00000030450 AA Change: S65G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
Pfam:ArsB
|
319 |
558 |
2e-10 |
PFAM |
Pfam:CitMHS
|
337 |
770 |
2e-49 |
PFAM |
Pfam:ArsB
|
562 |
827 |
8.9e-9 |
PFAM |
Pfam:Na_sulph_symp
|
573 |
832 |
6e-13 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144739
AA Change: S65G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152693
AA Change: S65G
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000119099 Gene: ENSMUSG00000030450 AA Change: S65G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155533
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156886
AA Change: S65G
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] PHENOTYPE: Mutations generally result in varying degrees of coat and eye pigment dilution. Specific alleles produce cleft palate, reproductive, endocrine or neurological disorders, and/or lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
G |
T |
15: 91,047,305 (GRCm39) |
R583S |
probably benign |
Het |
Ago2 |
A |
T |
15: 72,993,029 (GRCm39) |
F492Y |
probably damaging |
Het |
Ano4 |
T |
A |
10: 88,816,878 (GRCm39) |
D610V |
probably damaging |
Het |
Atp6v0d2 |
A |
G |
4: 19,922,366 (GRCm39) |
|
probably null |
Het |
Atxn7 |
T |
G |
14: 14,089,419 (GRCm38) |
S312A |
probably benign |
Het |
Azgp1 |
A |
G |
5: 137,983,493 (GRCm39) |
Y56C |
probably damaging |
Het |
Bcan |
A |
G |
3: 87,900,415 (GRCm39) |
V606A |
possibly damaging |
Het |
Btnl9 |
T |
A |
11: 49,066,617 (GRCm39) |
I335F |
probably benign |
Het |
Ccdc63 |
T |
C |
5: 122,267,940 (GRCm39) |
R9G |
probably damaging |
Het |
Cdyl |
T |
A |
13: 36,056,619 (GRCm39) |
L534* |
probably null |
Het |
Celf2 |
T |
C |
2: 6,554,744 (GRCm39) |
E445G |
probably damaging |
Het |
Cfap97d1 |
T |
A |
11: 101,879,302 (GRCm39) |
Y25N |
possibly damaging |
Het |
Cimap3 |
T |
A |
3: 105,921,866 (GRCm39) |
Q19L |
possibly damaging |
Het |
Cnot8 |
T |
C |
11: 58,008,361 (GRCm39) |
C276R |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,844,597 (GRCm39) |
I1135V |
possibly damaging |
Het |
Edc3 |
A |
G |
9: 57,634,598 (GRCm39) |
D205G |
probably damaging |
Het |
Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
Fancl |
T |
G |
11: 26,409,709 (GRCm39) |
S188R |
probably benign |
Het |
Fbn2 |
T |
A |
18: 58,186,048 (GRCm39) |
K1767* |
probably null |
Het |
Glrb |
A |
T |
3: 80,769,264 (GRCm39) |
H154Q |
probably damaging |
Het |
Gm19965 |
C |
T |
1: 116,748,633 (GRCm39) |
R105* |
probably null |
Het |
Grhpr |
C |
A |
4: 44,988,950 (GRCm39) |
Y202* |
probably null |
Het |
Herc2 |
A |
G |
7: 55,834,080 (GRCm39) |
E3095G |
probably damaging |
Het |
Il22ra2 |
A |
T |
10: 19,502,447 (GRCm39) |
N89Y |
probably damaging |
Het |
Itgb6 |
T |
C |
2: 60,483,625 (GRCm39) |
D261G |
probably benign |
Het |
Jmjd7 |
C |
T |
2: 119,860,589 (GRCm39) |
L39F |
probably damaging |
Het |
Kif1a |
T |
A |
1: 92,993,871 (GRCm39) |
I360F |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,760,866 (GRCm39) |
Q828R |
unknown |
Het |
Marchf10 |
C |
A |
11: 105,280,741 (GRCm39) |
A515S |
probably benign |
Het |
Mios |
T |
A |
6: 8,216,385 (GRCm39) |
Y436* |
probably null |
Het |
Mprip |
C |
T |
11: 59,645,867 (GRCm39) |
L684F |
probably damaging |
Het |
Mybpc2 |
T |
A |
7: 44,161,894 (GRCm39) |
N519Y |
possibly damaging |
Het |
Naga |
C |
T |
15: 82,221,669 (GRCm39) |
R24Q |
probably benign |
Het |
Nr2c1 |
G |
A |
10: 93,999,648 (GRCm39) |
V103M |
possibly damaging |
Het |
Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
Or52ab7 |
A |
G |
7: 102,977,854 (GRCm39) |
I54V |
probably benign |
Het |
Phyhipl |
A |
T |
10: 70,434,855 (GRCm39) |
I28N |
probably benign |
Het |
Pik3cb |
C |
A |
9: 98,983,342 (GRCm39) |
E89* |
probably null |
Het |
Plekhm2 |
A |
T |
4: 141,361,658 (GRCm39) |
S262T |
probably benign |
Het |
Ppm1a |
T |
A |
12: 72,840,481 (GRCm39) |
|
probably null |
Het |
Relt |
T |
C |
7: 100,499,401 (GRCm39) |
I173V |
probably damaging |
Het |
Rfx7 |
T |
A |
9: 72,526,919 (GRCm39) |
S1370T |
possibly damaging |
Het |
Rps7 |
G |
A |
12: 28,684,258 (GRCm39) |
R81C |
probably benign |
Het |
Saa3 |
T |
C |
7: 46,361,550 (GRCm39) |
*123W |
probably null |
Het |
Serpina3b |
C |
A |
12: 104,104,896 (GRCm39) |
H357Q |
probably damaging |
Het |
Slc9c1 |
T |
A |
16: 45,378,644 (GRCm39) |
N493K |
probably benign |
Het |
Spata31 |
T |
C |
13: 65,070,197 (GRCm39) |
Y782H |
probably benign |
Het |
Tfap2a |
T |
C |
13: 40,878,646 (GRCm39) |
D166G |
probably damaging |
Het |
Thada |
A |
T |
17: 84,771,835 (GRCm39) |
M9K |
probably benign |
Het |
Tmem269 |
A |
T |
4: 119,068,070 (GRCm39) |
|
probably null |
Het |
Tnxb |
C |
A |
17: 34,922,863 (GRCm39) |
P2482Q |
probably damaging |
Het |
Vit |
T |
C |
17: 78,912,940 (GRCm39) |
V291A |
possibly damaging |
Het |
Zfp930 |
G |
T |
8: 69,679,046 (GRCm39) |
A18S |
possibly damaging |
Het |
Zup1 |
A |
T |
10: 33,819,714 (GRCm39) |
V200D |
probably damaging |
Het |
|
Other mutations in Oca2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00509:Oca2
|
APN |
7 |
55,930,594 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01022:Oca2
|
APN |
7 |
55,974,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01666:Oca2
|
APN |
7 |
55,964,559 (GRCm39) |
splice site |
probably null |
|
IGL02157:Oca2
|
APN |
7 |
55,974,545 (GRCm39) |
splice site |
probably null |
|
IGL02213:Oca2
|
APN |
7 |
55,971,232 (GRCm39) |
splice site |
probably benign |
|
IGL02314:Oca2
|
APN |
7 |
56,006,899 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03083:Oca2
|
APN |
7 |
55,945,232 (GRCm39) |
missense |
probably benign |
0.28 |
IGL03356:Oca2
|
APN |
7 |
56,185,716 (GRCm39) |
missense |
probably benign |
0.01 |
charbon
|
UTSW |
7 |
55,966,153 (GRCm39) |
missense |
probably damaging |
1.00 |
cotton
|
UTSW |
7 |
56,185,716 (GRCm39) |
missense |
probably benign |
0.00 |
cutworm
|
UTSW |
7 |
55,966,168 (GRCm39) |
missense |
probably damaging |
1.00 |
Dirk
|
UTSW |
7 |
56,185,716 (GRCm39) |
missense |
probably benign |
0.00 |
draco1
|
UTSW |
7 |
56,073,100 (GRCm39) |
missense |
probably benign |
0.00 |
faded
|
UTSW |
7 |
55,974,409 (GRCm39) |
missense |
probably benign |
0.19 |
hardy
|
UTSW |
7 |
55,945,208 (GRCm39) |
missense |
probably damaging |
1.00 |
narwhal
|
UTSW |
7 |
55,945,246 (GRCm39) |
nonsense |
probably null |
|
quicksilver
|
UTSW |
7 |
55,974,409 (GRCm39) |
missense |
probably benign |
0.19 |
renesmee
|
UTSW |
7 |
56,185,716 (GRCm39) |
missense |
probably benign |
0.00 |
slush
|
UTSW |
7 |
55,927,189 (GRCm39) |
critical splice donor site |
probably null |
|
snowflake
|
UTSW |
7 |
55,974,428 (GRCm39) |
missense |
probably damaging |
1.00 |
whitemouse
|
UTSW |
7 |
56,064,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R0440:Oca2
|
UTSW |
7 |
56,073,100 (GRCm39) |
missense |
probably benign |
0.00 |
R1067:Oca2
|
UTSW |
7 |
55,966,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R1349:Oca2
|
UTSW |
7 |
56,185,716 (GRCm39) |
missense |
probably benign |
0.00 |
R1372:Oca2
|
UTSW |
7 |
56,185,716 (GRCm39) |
missense |
probably benign |
0.00 |
R1457:Oca2
|
UTSW |
7 |
55,971,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R1737:Oca2
|
UTSW |
7 |
55,978,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Oca2
|
UTSW |
7 |
55,971,246 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1966:Oca2
|
UTSW |
7 |
56,064,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R2082:Oca2
|
UTSW |
7 |
55,946,885 (GRCm39) |
missense |
probably benign |
0.01 |
R2229:Oca2
|
UTSW |
7 |
56,006,903 (GRCm39) |
missense |
probably benign |
0.11 |
R4120:Oca2
|
UTSW |
7 |
55,904,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R4192:Oca2
|
UTSW |
7 |
55,946,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R4405:Oca2
|
UTSW |
7 |
56,064,182 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4654:Oca2
|
UTSW |
7 |
55,978,560 (GRCm39) |
missense |
probably benign |
0.44 |
R4701:Oca2
|
UTSW |
7 |
55,904,750 (GRCm39) |
missense |
probably benign |
0.00 |
R4887:Oca2
|
UTSW |
7 |
55,980,106 (GRCm39) |
nonsense |
probably null |
|
R5053:Oca2
|
UTSW |
7 |
55,973,328 (GRCm39) |
missense |
probably benign |
0.02 |
R5215:Oca2
|
UTSW |
7 |
55,945,246 (GRCm39) |
nonsense |
probably null |
|
R5430:Oca2
|
UTSW |
7 |
55,945,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Oca2
|
UTSW |
7 |
56,064,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R6416:Oca2
|
UTSW |
7 |
55,978,515 (GRCm39) |
missense |
probably benign |
0.44 |
R6645:Oca2
|
UTSW |
7 |
55,964,522 (GRCm39) |
missense |
probably benign |
0.21 |
R7257:Oca2
|
UTSW |
7 |
55,929,286 (GRCm39) |
intron |
probably benign |
|
R7409:Oca2
|
UTSW |
7 |
56,064,145 (GRCm39) |
missense |
probably benign |
0.00 |
R7530:Oca2
|
UTSW |
7 |
55,981,720 (GRCm39) |
missense |
probably damaging |
0.99 |
R7820:Oca2
|
UTSW |
7 |
55,981,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R9043:Oca2
|
UTSW |
7 |
55,927,189 (GRCm39) |
critical splice donor site |
probably null |
|
R9153:Oca2
|
UTSW |
7 |
55,943,586 (GRCm39) |
missense |
probably benign |
0.00 |
R9205:Oca2
|
UTSW |
7 |
55,966,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R9681:Oca2
|
UTSW |
7 |
55,943,623 (GRCm39) |
missense |
probably null |
1.00 |
Z1088:Oca2
|
UTSW |
7 |
55,980,123 (GRCm39) |
missense |
probably null |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- AACAAAGACATCAGGCTGGC -3'
(R):5'- TACTCAGCAGACACAGGTAACAGAG -3'
Sequencing Primer
(F):5'- AAGACATCAGGCTGGCCTCAG -3'
(R):5'- CACTTTGAGACTCTGTTTAATCTCAG -3'
|
Posted On |
2014-06-23 |