Incidental Mutation 'R6416:Oca2'
| ID |
517928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oca2
|
| Ensembl Gene |
ENSMUSG00000030450 |
| Gene Name |
oculocutaneous albinism II |
| Synonyms |
p, D7H15S12, D7H15S12 |
| MMRRC Submission |
044558-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R6416 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
55889508-56186266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 55978515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 561
(R561L)
|
| 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: R561L
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000032633
Gene: ENSMUSG00000030450
AA Change: R561L
| 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: 99.8%
- 10x: 98.4%
- 20x: 94.6%
|
| Validation Efficiency |
99% (67/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
C |
A |
16: 88,504,779 (GRCm39) |
R6L |
unknown |
Het |
| Anxa11 |
A |
G |
14: 25,874,694 (GRCm39) |
Q235R |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,199,065 (GRCm39) |
M1K |
probably null |
Het |
| Atl2 |
G |
A |
17: 80,157,652 (GRCm39) |
T563I |
probably benign |
Het |
| Azin1 |
A |
T |
15: 38,492,587 (GRCm39) |
S307R |
possibly damaging |
Het |
| Ccdc153 |
A |
G |
9: 44,157,077 (GRCm39) |
T118A |
probably benign |
Het |
| Chac1 |
G |
A |
2: 119,184,015 (GRCm39) |
V206I |
probably damaging |
Het |
| Chrm3 |
A |
G |
13: 9,927,698 (GRCm39) |
V446A |
probably benign |
Het |
| Cped1 |
T |
C |
6: 22,123,648 (GRCm39) |
F467S |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 48,536,956 (GRCm39) |
P82L |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,430,984 (GRCm39) |
S840T |
probably benign |
Het |
| Ddx60 |
C |
T |
8: 62,451,715 (GRCm39) |
H1202Y |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,984,609 (GRCm39) |
N3102K |
probably benign |
Het |
| Dst |
A |
T |
1: 34,155,209 (GRCm39) |
K85M |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,768,785 (GRCm39) |
I839M |
probably benign |
Het |
| Fam184b |
T |
A |
5: 45,694,995 (GRCm39) |
M750L |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,479,799 (GRCm39) |
T1965A |
probably benign |
Het |
| Ftl1 |
A |
T |
7: 45,108,634 (GRCm39) |
D41E |
probably benign |
Het |
| Garem2 |
G |
A |
5: 30,321,735 (GRCm39) |
W698* |
probably null |
Het |
| Glt8d2 |
T |
C |
10: 82,488,740 (GRCm39) |
Y283C |
probably damaging |
Het |
| Hars1 |
T |
C |
18: 36,906,643 (GRCm39) |
E109G |
possibly damaging |
Het |
| Hspb9 |
T |
C |
11: 100,605,036 (GRCm39) |
S121P |
probably damaging |
Het |
| Hus1b |
A |
T |
13: 31,131,188 (GRCm39) |
L157Q |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,853,643 (GRCm39) |
M322V |
probably benign |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Il17f |
T |
A |
1: 20,848,131 (GRCm39) |
M116L |
probably benign |
Het |
| Kif22 |
T |
C |
7: 126,628,104 (GRCm39) |
K9E |
possibly damaging |
Het |
| Krt90 |
T |
C |
15: 101,467,679 (GRCm39) |
E233G |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,090,307 (GRCm39) |
M81V |
probably benign |
Het |
| Mocos |
C |
T |
18: 24,834,513 (GRCm39) |
S850L |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,059,713 (GRCm39) |
S1364T |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,075,340 (GRCm39) |
N208K |
probably benign |
Het |
| Olfm5 |
A |
G |
7: 103,803,260 (GRCm39) |
L401P |
probably damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,971 (GRCm39) |
Y291* |
probably null |
Het |
| Or2t49 |
T |
C |
11: 58,393,166 (GRCm39) |
D72G |
probably damaging |
Het |
| Or4a39 |
C |
A |
2: 89,236,866 (GRCm39) |
A186S |
possibly damaging |
Het |
| Or7g16 |
G |
A |
9: 18,727,188 (GRCm39) |
T134M |
probably benign |
Het |
| Or8g33 |
T |
A |
9: 39,338,187 (GRCm39) |
Y60F |
probably damaging |
Het |
| Oxgr1 |
T |
C |
14: 120,259,860 (GRCm39) |
N116D |
probably damaging |
Het |
| Pcdha11 |
G |
T |
18: 37,145,222 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,176,186 (GRCm39) |
I418V |
probably benign |
Het |
| Pih1d2 |
T |
C |
9: 50,529,909 (GRCm39) |
V62A |
probably benign |
Het |
| Pkib |
T |
A |
10: 57,604,234 (GRCm39) |
V46E |
probably damaging |
Het |
| Pum1 |
A |
G |
4: 130,455,598 (GRCm39) |
|
probably null |
Het |
| Rbak |
G |
T |
5: 143,162,307 (GRCm39) |
Q19K |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,781,959 (GRCm39) |
T32A |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,043,617 (GRCm39) |
W835R |
probably damaging |
Het |
| Sis |
T |
G |
3: 72,819,187 (GRCm39) |
K1456N |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,327,588 (GRCm39) |
N675I |
probably benign |
Het |
| Slc8a3 |
C |
A |
12: 81,362,401 (GRCm39) |
M139I |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,791,198 (GRCm39) |
F1182S |
probably damaging |
Het |
| St8sia2 |
A |
T |
7: 73,621,669 (GRCm39) |
I96N |
probably damaging |
Het |
| Stx19 |
T |
C |
16: 62,642,420 (GRCm39) |
S79P |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,286,563 (GRCm39) |
V698M |
probably damaging |
Het |
| Timm22 |
T |
C |
11: 76,301,965 (GRCm39) |
S150P |
probably damaging |
Het |
| Tjp1 |
C |
T |
7: 64,962,953 (GRCm39) |
D995N |
possibly damaging |
Het |
| Tmem135 |
T |
A |
7: 88,797,002 (GRCm39) |
T365S |
probably benign |
Het |
| Tmem174 |
T |
C |
13: 98,773,489 (GRCm39) |
T114A |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,926,053 (GRCm39) |
I909T |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,148,613 (GRCm39) |
I62V |
possibly damaging |
Het |
| Tulp1 |
A |
T |
17: 28,575,005 (GRCm39) |
*487K |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,097,905 (GRCm39) |
V1826E |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,321,982 (GRCm39) |
N238K |
probably damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,614,697 (GRCm39) |
N298Y |
probably damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,689,861 (GRCm39) |
F246I |
probably damaging |
Het |
| Vps9d1 |
A |
C |
8: 123,975,378 (GRCm39) |
V194G |
probably damaging |
Het |
| Zfp260 |
A |
T |
7: 29,804,235 (GRCm39) |
H45L |
possibly damaging |
Het |
| Zfp846 |
A |
T |
9: 20,505,016 (GRCm39) |
H292L |
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 |
|
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'- GTTCCATCATTGTAGCTCATGC -3'
(R):5'- ATATGTTCCTTCATGCAATGCC -3'
Sequencing Primer
(F):5'- CTCATGCTGTGAAGAGTCTGC -3'
(R):5'- TTCATGCAATGCCACCGTTAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation