Incidental Mutation 'R0440:Oca2'
ID |
46690 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oca2
|
Ensembl Gene |
ENSMUSG00000030450 |
Gene Name |
oculocutaneous albinism II |
Synonyms |
p, D7H15S12, D7H15S12 |
MMRRC Submission |
038641-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R0440 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
7 |
Chromosomal Location |
55889508-56186266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56073100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 765
(Y765F)
|
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: Y765F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000032633 Gene: ENSMUSG00000030450 AA Change: Y765F
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 |
0.1073 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
99% (68/69) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
G |
A |
15: 83,112,694 (GRCm39) |
R30W |
probably damaging |
Het |
Adam7 |
T |
C |
14: 68,748,305 (GRCm39) |
|
probably null |
Het |
Agl |
A |
T |
3: 116,552,455 (GRCm39) |
L1158Q |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,114,569 (GRCm39) |
S66P |
probably damaging |
Het |
Akr1c20 |
T |
A |
13: 4,537,207 (GRCm39) |
D316V |
probably benign |
Het |
App |
C |
A |
16: 84,853,302 (GRCm39) |
E259* |
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,784,529 (GRCm39) |
|
probably null |
Het |
Armc9 |
G |
A |
1: 86,121,984 (GRCm39) |
|
probably null |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Btaf1 |
C |
T |
19: 36,964,053 (GRCm39) |
P875S |
probably damaging |
Het |
Cc2d1b |
T |
A |
4: 108,483,013 (GRCm39) |
|
probably null |
Het |
Ccar1 |
C |
T |
10: 62,616,236 (GRCm39) |
V165I |
possibly damaging |
Het |
Ccdc106 |
A |
T |
7: 5,063,244 (GRCm39) |
I250F |
probably damaging |
Het |
Ccny |
T |
C |
18: 9,332,917 (GRCm39) |
I205V |
probably benign |
Het |
Cfap52 |
T |
A |
11: 67,844,914 (GRCm39) |
I52L |
probably benign |
Het |
Chd8 |
T |
A |
14: 52,442,283 (GRCm39) |
T2096S |
possibly damaging |
Het |
Clstn3 |
G |
A |
6: 124,428,372 (GRCm39) |
T423I |
probably damaging |
Het |
Col13a1 |
T |
C |
10: 61,703,262 (GRCm39) |
D440G |
possibly damaging |
Het |
Dclk3 |
G |
A |
9: 111,298,231 (GRCm39) |
V592M |
probably damaging |
Het |
Ddx31 |
A |
T |
2: 28,747,144 (GRCm39) |
I208F |
probably damaging |
Het |
Dlat |
A |
T |
9: 50,556,419 (GRCm39) |
|
probably null |
Het |
Eml4 |
T |
C |
17: 83,753,487 (GRCm39) |
|
probably null |
Het |
Enpp2 |
T |
A |
15: 54,710,633 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
C |
5: 73,244,315 (GRCm39) |
S38G |
possibly damaging |
Het |
Gcnt1 |
G |
A |
19: 17,307,680 (GRCm39) |
T15I |
probably benign |
Het |
Gm21834 |
T |
C |
17: 58,049,121 (GRCm39) |
T32A |
possibly damaging |
Het |
Golga2 |
A |
G |
2: 32,192,945 (GRCm39) |
D394G |
probably damaging |
Het |
Gtf3c4 |
G |
T |
2: 28,730,181 (GRCm39) |
|
probably null |
Het |
Igkv4-69 |
A |
G |
6: 69,261,253 (GRCm39) |
|
probably benign |
Het |
Inpp5j |
T |
C |
11: 3,451,150 (GRCm39) |
R500G |
possibly damaging |
Het |
Kif5b |
A |
T |
18: 6,226,980 (GRCm39) |
|
probably benign |
Het |
Klhl36 |
A |
G |
8: 120,603,290 (GRCm39) |
E515G |
probably damaging |
Het |
Lifr |
C |
T |
15: 7,186,672 (GRCm39) |
R59* |
probably null |
Het |
Lrif1 |
A |
T |
3: 106,641,714 (GRCm39) |
Q10L |
possibly damaging |
Het |
Lrp8 |
A |
G |
4: 107,726,295 (GRCm39) |
E908G |
probably damaging |
Het |
Lrrc23 |
A |
T |
6: 124,747,667 (GRCm39) |
D307E |
probably benign |
Het |
Mpv17l |
T |
C |
16: 13,762,583 (GRCm39) |
F27L |
probably damaging |
Het |
Mta3 |
C |
T |
17: 84,074,016 (GRCm39) |
A76V |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,345,771 (GRCm39) |
Y202* |
probably null |
Het |
Naprt |
A |
G |
15: 75,762,918 (GRCm39) |
|
probably benign |
Het |
Npr2 |
T |
A |
4: 43,650,315 (GRCm39) |
V960D |
probably damaging |
Het |
Or2d2 |
A |
T |
7: 106,727,939 (GRCm39) |
H220Q |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,326,712 (GRCm39) |
Y215* |
probably null |
Het |
Prdm16 |
G |
A |
4: 154,561,084 (GRCm39) |
|
probably benign |
Het |
Ptn |
A |
G |
6: 36,721,432 (GRCm39) |
S3P |
probably benign |
Het |
Pus10 |
T |
C |
11: 23,623,331 (GRCm39) |
|
probably benign |
Het |
Rad21 |
A |
T |
15: 51,831,754 (GRCm39) |
D442E |
probably benign |
Het |
Rmdn2 |
A |
G |
17: 79,975,384 (GRCm39) |
H291R |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,415,863 (GRCm39) |
S1750P |
probably damaging |
Het |
Samd4b |
A |
T |
7: 28,107,585 (GRCm39) |
I228N |
probably benign |
Het |
Sdr9c7 |
G |
T |
10: 127,734,822 (GRCm39) |
|
probably benign |
Het |
Slc13a2 |
T |
C |
11: 78,294,001 (GRCm39) |
N254D |
probably benign |
Het |
Slc16a8 |
T |
A |
15: 79,136,807 (GRCm39) |
I132F |
probably damaging |
Het |
Slc18b1 |
T |
A |
10: 23,694,976 (GRCm39) |
Y274N |
probably benign |
Het |
Slc45a2 |
A |
T |
15: 11,000,903 (GRCm39) |
M1L |
probably benign |
Het |
Smc1b |
A |
G |
15: 84,996,874 (GRCm39) |
|
probably benign |
Het |
Stab2 |
T |
C |
10: 86,785,792 (GRCm39) |
S617G |
probably benign |
Het |
Stk10 |
A |
G |
11: 32,554,190 (GRCm39) |
M626V |
probably damaging |
Het |
Synpo2l |
T |
G |
14: 20,711,466 (GRCm39) |
I385L |
possibly damaging |
Het |
Tmprss11d |
T |
C |
5: 86,486,671 (GRCm39) |
Y73C |
probably damaging |
Het |
Ttc21b |
A |
G |
2: 66,066,726 (GRCm39) |
V309A |
probably benign |
Het |
Tubgcp6 |
A |
G |
15: 88,987,268 (GRCm39) |
I1235T |
probably benign |
Het |
Usp8 |
A |
G |
2: 126,567,310 (GRCm39) |
I110V |
probably benign |
Het |
Vps13c |
G |
A |
9: 67,880,143 (GRCm39) |
G3442S |
probably damaging |
Het |
Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
Zfp207 |
T |
A |
11: 80,286,333 (GRCm39) |
|
probably benign |
Het |
Zfp748 |
A |
C |
13: 67,701,144 (GRCm39) |
|
probably null |
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 |
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 |
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'- AAGGTTCTTTAGGTTTCGTAAATCAGTCACA -3'
(R):5'- CAGTTTTCTTTAGACTTCAGTCCCAGCA -3'
|
Posted On |
2013-06-11 |