Incidental Mutation 'R7820:Oca2'
ID |
601815 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oca2
|
Ensembl Gene |
ENSMUSG00000030450 |
Gene Name |
oculocutaneous albinism II |
Synonyms |
p, D7H15S12, D7H15S12 |
MMRRC Submission |
045874-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R7820 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
55889508-56186266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55981713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 612
(I612F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032633]
[ENSMUST00000144739]
[ENSMUST00000152693]
|
AlphaFold |
Q62052 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032633
AA Change: I612F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000032633 Gene: ENSMUSG00000030450 AA Change: I612F
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
96% (49/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405O20Rik |
T |
A |
7: 50,249,371 (GRCm39) |
I135N |
probably benign |
Het |
Abca14 |
A |
T |
7: 119,811,944 (GRCm39) |
N175I |
probably benign |
Het |
Adam12 |
A |
G |
7: 133,599,917 (GRCm39) |
V99A |
probably benign |
Het |
Ankfn1 |
G |
T |
11: 89,311,956 (GRCm39) |
P730T |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,867,983 (GRCm39) |
S847P |
probably damaging |
Het |
Cacna1i |
C |
T |
15: 80,256,573 (GRCm39) |
A989V |
probably benign |
Het |
Cacnb2 |
T |
A |
2: 14,965,477 (GRCm39) |
N152K |
probably damaging |
Het |
Cemip2 |
C |
T |
19: 21,784,825 (GRCm39) |
A436V |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,244,064 (GRCm39) |
Y1334N |
probably damaging |
Het |
Cimap1a |
A |
C |
7: 140,429,176 (GRCm39) |
T128P |
probably benign |
Het |
Clca4a |
A |
T |
3: 144,666,432 (GRCm39) |
D473E |
probably damaging |
Het |
Crhr2 |
A |
C |
6: 55,079,764 (GRCm39) |
I191S |
probably damaging |
Het |
Eef1akmt3 |
T |
C |
10: 126,869,063 (GRCm39) |
Q137R |
possibly damaging |
Het |
Eml1 |
T |
C |
12: 108,481,433 (GRCm39) |
I432T |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,819,784 (GRCm39) |
T2504A |
probably benign |
Het |
Hmgxb4 |
G |
T |
8: 75,727,574 (GRCm39) |
E186* |
probably null |
Het |
Ighv16-1 |
T |
C |
12: 114,032,589 (GRCm39) |
N71S |
probably benign |
Het |
Kif2b |
A |
G |
11: 91,468,100 (GRCm39) |
V61A |
probably benign |
Het |
Map1b |
C |
T |
13: 99,567,685 (GRCm39) |
G1679R |
unknown |
Het |
Mast4 |
G |
A |
13: 102,890,596 (GRCm39) |
S1086L |
probably damaging |
Het |
Mcm8 |
A |
G |
2: 132,682,692 (GRCm39) |
E724G |
possibly damaging |
Het |
Mfap5 |
C |
A |
6: 122,497,880 (GRCm39) |
D51E |
probably damaging |
Het |
Mon1a |
T |
C |
9: 107,778,511 (GRCm39) |
L245P |
probably damaging |
Het |
Mtx1 |
G |
T |
3: 89,121,315 (GRCm39) |
H106Q |
probably benign |
Het |
Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
Ngp |
A |
G |
9: 110,249,932 (GRCm39) |
T77A |
probably benign |
Het |
Or11a4 |
A |
T |
17: 37,536,786 (GRCm39) |
M257L |
probably benign |
Het |
Or4c119 |
T |
A |
2: 88,986,592 (GRCm39) |
D309V |
probably benign |
Het |
Or8b3 |
A |
T |
9: 38,314,862 (GRCm39) |
I228F |
probably damaging |
Het |
Otop3 |
T |
A |
11: 115,230,414 (GRCm39) |
V97D |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,893,837 (GRCm39) |
|
probably benign |
Het |
Pdc |
T |
C |
1: 150,209,021 (GRCm39) |
I168T |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Plekha7 |
A |
T |
7: 115,836,715 (GRCm39) |
F18I |
probably benign |
Het |
Plppr4 |
A |
G |
3: 117,115,598 (GRCm39) |
I753T |
possibly damaging |
Het |
Pms2 |
T |
G |
5: 143,851,451 (GRCm39) |
S123A |
possibly damaging |
Het |
Pou4f2 |
T |
A |
8: 79,163,131 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
A |
T |
13: 63,670,875 (GRCm39) |
L885Q |
probably damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rgs11 |
T |
A |
17: 26,424,169 (GRCm39) |
|
probably null |
Het |
Samd3 |
T |
A |
10: 26,109,416 (GRCm39) |
|
probably null |
Het |
Slit3 |
A |
G |
11: 35,591,235 (GRCm39) |
D1349G |
probably benign |
Het |
Sorbs2 |
A |
T |
8: 46,249,593 (GRCm39) |
Q868L |
probably null |
Het |
Speer4f1 |
T |
A |
5: 17,684,528 (GRCm39) |
S185R |
probably damaging |
Het |
Spin2f |
A |
G |
X: 30,905,635 (GRCm39) |
K28R |
probably benign |
Het |
Tas2r125 |
T |
G |
6: 132,886,841 (GRCm39) |
I76M |
probably benign |
Het |
Tex15 |
A |
T |
8: 34,065,090 (GRCm39) |
I1507F |
probably damaging |
Het |
Vmn1r215 |
A |
T |
13: 23,260,715 (GRCm39) |
I252F |
probably damaging |
Het |
Vmn1r71 |
A |
G |
7: 10,482,652 (GRCm39) |
F12S |
possibly damaging |
Het |
Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
Zfp764l1 |
A |
T |
7: 126,990,608 (GRCm39) |
W460R |
possibly 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 |
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 |
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'- TCATTACCTTGTGACTCTGGG -3'
(R):5'- CCTTTGGTACAGTTATCATCTGGG -3'
Sequencing Primer
(F):5'- ACTGCTGCATATGTACCAGG -3'
(R):5'- TGGTACAGTTATCATCTGGGAATAG -3'
|
Posted On |
2019-12-03 |