Incidental Mutation 'R1349:Oca2'
| ID |
156600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oca2
|
| Ensembl Gene |
ENSMUSG00000030450 |
| Gene Name |
oculocutaneous albinism II |
| Synonyms |
p, D7H15S12, D7H15S12 |
| MMRRC Submission |
039414-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1349 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
55889508-56186266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56185716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 814
(M814K)
|
| 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: M814K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000032633
Gene: ENSMUSG00000030450
AA Change: M814K
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
| Validation Efficiency |
98% (46/47) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
G |
A |
8: 125,587,992 (GRCm39) |
T36I |
possibly damaging |
Het |
| Adcy2 |
T |
A |
13: 68,816,652 (GRCm39) |
N778I |
probably damaging |
Het |
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
| Ankrd28 |
A |
T |
14: 31,467,218 (GRCm39) |
M248K |
probably benign |
Het |
| Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
| Ccdc157 |
A |
T |
11: 4,099,056 (GRCm39) |
I48N |
probably benign |
Het |
| Cd209d |
C |
A |
8: 3,928,515 (GRCm39) |
|
probably benign |
Het |
| Cecr2 |
G |
A |
6: 120,734,564 (GRCm39) |
G613E |
probably damaging |
Het |
| Clspn |
C |
T |
4: 126,457,770 (GRCm39) |
A98V |
probably benign |
Het |
| Cntnap5b |
G |
A |
1: 100,091,813 (GRCm39) |
D499N |
probably benign |
Het |
| Cox7a2 |
G |
A |
9: 79,665,819 (GRCm39) |
R21* |
probably null |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dbpht2 |
C |
CNNNNNNNNNNNNNNNNNN |
12: 74,345,836 (GRCm39) |
|
noncoding transcript |
Het |
| Dlg1 |
T |
C |
16: 31,631,638 (GRCm39) |
I208T |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,021,920 (GRCm39) |
N1612Y |
probably damaging |
Het |
| Epha3 |
A |
G |
16: 63,431,416 (GRCm39) |
I495T |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,840,542 (GRCm39) |
|
probably benign |
Het |
| Glipr1 |
A |
G |
10: 111,829,437 (GRCm39) |
V108A |
probably benign |
Het |
| Gpatch2l |
T |
C |
12: 86,307,483 (GRCm39) |
L287P |
possibly damaging |
Het |
| Hp |
T |
G |
8: 110,301,938 (GRCm39) |
K337Q |
probably benign |
Het |
| Htr1a |
T |
A |
13: 105,581,874 (GRCm39) |
C371* |
probably null |
Het |
| Leo1 |
T |
C |
9: 75,356,751 (GRCm39) |
V377A |
possibly damaging |
Het |
| Lsg1 |
A |
G |
16: 30,383,472 (GRCm39) |
F583L |
possibly damaging |
Het |
| Map4k4 |
C |
A |
1: 40,060,319 (GRCm39) |
P1103Q |
probably damaging |
Het |
| Mybph |
T |
C |
1: 134,121,353 (GRCm39) |
S38P |
probably benign |
Het |
| Myo1e |
T |
G |
9: 70,194,351 (GRCm39) |
|
probably benign |
Het |
| Nefh |
T |
TNNNNNNNNNNNNNNNNNN |
11: 4,891,010 (GRCm39) |
|
probably benign |
Het |
| Odad3 |
C |
T |
9: 21,904,916 (GRCm39) |
R290H |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,794,240 (GRCm39) |
C1976R |
probably damaging |
Het |
| Pogz |
T |
A |
3: 94,768,199 (GRCm39) |
L126M |
probably damaging |
Het |
| Rec8 |
T |
C |
14: 55,856,431 (GRCm39) |
Y68H |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,664,546 (GRCm39) |
S1582C |
probably damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,160 (GRCm39) |
W853R |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,133,615 (GRCm39) |
G527D |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,435 (GRCm39) |
T148A |
possibly damaging |
Het |
| Tgm1 |
A |
G |
14: 55,948,658 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,929,267 (GRCm39) |
V2770A |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,057,919 (GRCm39) |
M1502K |
probably damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,880,887 (GRCm39) |
|
probably benign |
Het |
| Vmn2r12 |
T |
C |
5: 109,234,452 (GRCm39) |
M587V |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,578,642 (GRCm39) |
F84L |
possibly damaging |
Het |
| Wdr35 |
A |
T |
12: 9,069,870 (GRCm39) |
|
probably benign |
Het |
| Wdr73 |
C |
A |
7: 80,543,000 (GRCm39) |
V176L |
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 |
|
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 |
|
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'- TTCGGTATGTGTGTCTGTATGCC -3'
(R):5'- TCATCCTTTTCTTCTTCGGAGGT -3'
Sequencing Primer
(F):5'- GCCTGTCCTTTCTTCATTCC -3'
(R):5'- AAGCCTTCCACCTGATGCTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation