Incidental Mutation 'R2082:Oca2'
ID |
230071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oca2
|
Ensembl Gene |
ENSMUSG00000030450 |
Gene Name |
oculocutaneous albinism II |
Synonyms |
p, D7H15S12, D7H15S12 |
MMRRC Submission |
040087-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R2082 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
55889508-56186266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 55946885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 305
(Q305K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032633]
[ENSMUST00000144739]
[ENSMUST00000152693]
|
AlphaFold |
Q62052 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032633
AA Change: Q305K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000032633 Gene: ENSMUSG00000030450 AA Change: Q305K
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 |
probably benign
Transcript: ENSMUST00000144739
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152693
|
SMART Domains |
Protein: ENSMUSP00000119099 Gene: ENSMUSG00000030450
Domain | Start | End | E-Value | Type |
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 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 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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
T |
A |
2: 30,686,391 (GRCm39) |
|
probably null |
Het |
4933427I04Rik |
A |
G |
4: 123,754,769 (GRCm39) |
I228V |
probably benign |
Het |
Aco2 |
T |
C |
15: 81,797,896 (GRCm39) |
W657R |
possibly damaging |
Het |
Acsm2 |
T |
A |
7: 119,179,857 (GRCm39) |
H333Q |
probably benign |
Het |
Adamts18 |
C |
T |
8: 114,501,965 (GRCm39) |
V299I |
probably damaging |
Het |
Adat2 |
G |
A |
10: 13,435,907 (GRCm39) |
C84Y |
probably damaging |
Het |
Arhgef11 |
C |
T |
3: 87,633,303 (GRCm39) |
T690I |
possibly damaging |
Het |
Cachd1 |
A |
G |
4: 100,860,155 (GRCm39) |
D1242G |
probably damaging |
Het |
Casp14 |
A |
G |
10: 78,550,867 (GRCm39) |
M106T |
probably benign |
Het |
Ccdc69 |
T |
A |
11: 54,943,215 (GRCm39) |
I130F |
probably damaging |
Het |
Cdk9 |
A |
G |
2: 32,599,513 (GRCm39) |
L189P |
probably damaging |
Het |
Cfhr1 |
C |
T |
1: 139,478,624 (GRCm39) |
V249I |
possibly damaging |
Het |
Chst1 |
T |
C |
2: 92,444,335 (GRCm39) |
V269A |
possibly damaging |
Het |
Col18a1 |
G |
T |
10: 76,895,127 (GRCm39) |
P1178Q |
probably damaging |
Het |
Col6a1 |
A |
G |
10: 76,545,430 (GRCm39) |
L1014P |
probably damaging |
Het |
Crisp3 |
T |
C |
17: 40,536,751 (GRCm39) |
Y188C |
probably damaging |
Het |
Dse |
G |
A |
10: 34,031,936 (GRCm39) |
R363C |
probably damaging |
Het |
Exoc5 |
T |
C |
14: 49,253,044 (GRCm39) |
I525V |
probably benign |
Het |
Fech |
A |
T |
18: 64,591,260 (GRCm39) |
I388N |
probably damaging |
Het |
Fmnl1 |
T |
C |
11: 103,082,851 (GRCm39) |
L363P |
probably damaging |
Het |
Gm10842 |
T |
A |
11: 105,037,909 (GRCm39) |
L64Q |
unknown |
Het |
Gm8225 |
C |
A |
17: 26,762,670 (GRCm39) |
P287Q |
possibly damaging |
Het |
Hsp90aa1 |
A |
T |
12: 110,659,261 (GRCm39) |
L512H |
probably damaging |
Het |
Ifi30 |
T |
C |
8: 71,216,373 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
A |
T |
6: 90,671,556 (GRCm39) |
D115E |
probably damaging |
Het |
Kcnu1 |
T |
A |
8: 26,411,577 (GRCm39) |
L174H |
probably damaging |
Het |
Krt10 |
A |
G |
11: 99,279,701 (GRCm39) |
V153A |
probably damaging |
Het |
Krt18 |
G |
A |
15: 101,939,455 (GRCm39) |
|
probably null |
Het |
Micu1 |
A |
G |
10: 59,699,129 (GRCm39) |
T469A |
probably benign |
Het |
Mtss2 |
T |
C |
8: 111,452,889 (GRCm39) |
|
probably null |
Het |
Myo10 |
T |
A |
15: 25,786,079 (GRCm39) |
F1253L |
probably damaging |
Het |
N4bp2 |
A |
T |
5: 65,964,908 (GRCm39) |
T986S |
probably damaging |
Het |
Naip6 |
C |
A |
13: 100,440,852 (GRCm39) |
|
probably null |
Het |
Nphp4 |
G |
A |
4: 152,643,821 (GRCm39) |
V1117M |
probably benign |
Het |
Or56b34 |
C |
T |
7: 104,937,710 (GRCm39) |
Q137* |
probably null |
Het |
Or5k3 |
T |
A |
16: 58,969,248 (GRCm39) |
F12I |
probably damaging |
Het |
Or7g27 |
G |
A |
9: 19,250,574 (GRCm39) |
V273I |
probably benign |
Het |
P2rx7 |
A |
T |
5: 122,782,158 (GRCm39) |
N8Y |
possibly damaging |
Het |
Pag1 |
A |
T |
3: 9,764,545 (GRCm39) |
S203T |
probably damaging |
Het |
Pfn4 |
T |
A |
12: 4,825,439 (GRCm39) |
|
probably null |
Het |
Pip4k2c |
T |
C |
10: 127,034,958 (GRCm39) |
D414G |
probably damaging |
Het |
Pkp1 |
T |
G |
1: 135,812,714 (GRCm39) |
Q329P |
possibly damaging |
Het |
Polrmt |
A |
T |
10: 79,579,346 (GRCm39) |
I135N |
probably benign |
Het |
Ppa2 |
G |
A |
3: 133,076,178 (GRCm39) |
R269H |
probably benign |
Het |
Ppp3cb |
T |
C |
14: 20,558,746 (GRCm39) |
T439A |
possibly damaging |
Het |
Prkdc |
A |
G |
16: 15,533,827 (GRCm39) |
Y1555C |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,553,774 (GRCm39) |
D859G |
probably damaging |
Het |
Sema5a |
T |
A |
15: 32,619,002 (GRCm39) |
M510K |
probably benign |
Het |
Slc22a16 |
A |
G |
10: 40,461,335 (GRCm39) |
E379G |
probably benign |
Het |
Slc30a5 |
C |
A |
13: 100,943,041 (GRCm39) |
|
probably null |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tbc1d9 |
A |
T |
8: 83,997,616 (GRCm39) |
S1058C |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,191,488 (GRCm39) |
L982P |
possibly damaging |
Het |
Tmem101 |
G |
T |
11: 102,044,203 (GRCm39) |
T228K |
probably benign |
Het |
Tshz2 |
G |
T |
2: 169,728,135 (GRCm39) |
K441N |
probably damaging |
Het |
Upf1 |
A |
T |
8: 70,794,222 (GRCm39) |
I228N |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,921,338 (GRCm39) |
I692N |
probably damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,679,230 (GRCm39) |
S665P |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,910,892 (GRCm39) |
V3552A |
possibly damaging |
Het |
Vps35 |
A |
T |
8: 85,990,094 (GRCm39) |
M638K |
possibly damaging |
Het |
Vps41 |
T |
G |
13: 19,036,521 (GRCm39) |
I645S |
probably benign |
Het |
Zfp703 |
T |
C |
8: 27,469,016 (GRCm39) |
S227P |
probably benign |
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 |
R1802:Oca2
|
UTSW |
7 |
55,904,728 (GRCm39) |
missense |
possibly damaging |
0.96 |
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 |
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'- TCACAGGTCTGTACTCAGGG -3'
(R):5'- GGGCAGTTGCTTTTCCTACC -3'
Sequencing Primer
(F):5'- ACAGGTCTGTACTCAGGGCTTTTC -3'
(R):5'- GTTTATCAAAGCATCCAACAGACTG -3'
|
Posted On |
2014-09-18 |