Incidental Mutation 'R6416:Oca2'
| ID |
517928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oca2
|
| Ensembl Gene |
ENSMUSG00000030450 |
| Gene Name |
oculocutaneous albinism II |
| Synonyms |
D7H15S12, p, D7H15S12 |
| MMRRC Submission |
044558-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R6416 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
56239760-56536518 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 56328767 bp (GRCm38)
|
| 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: 88,707,891 (GRCm38) |
R6L |
unknown |
Het |
| Anxa11 |
A |
G |
14: 25,874,270 (GRCm38) |
Q235R |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,308,239 (GRCm38) |
M1K |
probably null |
Het |
| Atl2 |
G |
A |
17: 79,850,223 (GRCm38) |
T563I |
probably benign |
Het |
| Azin1 |
A |
T |
15: 38,492,343 (GRCm38) |
S307R |
possibly damaging |
Het |
| Ccdc153 |
A |
G |
9: 44,245,780 (GRCm38) |
T118A |
probably benign |
Het |
| Chac1 |
G |
A |
2: 119,353,534 (GRCm38) |
V206I |
probably damaging |
Het |
| Chrm3 |
A |
G |
13: 9,877,662 (GRCm38) |
V446A |
probably benign |
Het |
| Cped1 |
T |
C |
6: 22,123,649 (GRCm38) |
F467S |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 48,673,560 (GRCm38) |
P82L |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 61,977,950 (GRCm38) |
S840T |
probably benign |
Het |
| Ddx60 |
C |
T |
8: 61,998,681 (GRCm38) |
H1202Y |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,765,635 (GRCm38) |
N3102K |
probably benign |
Het |
| Dst |
A |
T |
1: 34,116,128 (GRCm38) |
K85M |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,718,757 (GRCm38) |
I839M |
probably benign |
Het |
| Fam184b |
T |
A |
5: 45,537,653 (GRCm38) |
M750L |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,572,378 (GRCm38) |
T1965A |
probably benign |
Het |
| Ftl1 |
A |
T |
7: 45,459,210 (GRCm38) |
D41E |
probably benign |
Het |
| Garem2 |
G |
A |
5: 30,116,737 (GRCm38) |
W698* |
probably null |
Het |
| Glt8d2 |
T |
C |
10: 82,652,906 (GRCm38) |
Y283C |
probably damaging |
Het |
| Hars |
T |
C |
18: 36,773,590 (GRCm38) |
E109G |
possibly damaging |
Het |
| Hspb9 |
T |
C |
11: 100,714,210 (GRCm38) |
S121P |
probably damaging |
Het |
| Hus1b |
A |
T |
13: 30,947,205 (GRCm38) |
L157Q |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,946,359 (GRCm38) |
M322V |
probably benign |
Het |
| Igkv4-61 |
C |
A |
6: 69,417,154 (GRCm38) |
A31S |
possibly damaging |
Het |
| Il17f |
T |
A |
1: 20,777,907 (GRCm38) |
M116L |
probably benign |
Het |
| Kif22 |
T |
C |
7: 127,028,932 (GRCm38) |
K9E |
possibly damaging |
Het |
| Krt90 |
T |
C |
15: 101,559,244 (GRCm38) |
E233G |
probably benign |
Het |
| Lipg |
T |
C |
18: 74,957,236 (GRCm38) |
M81V |
probably benign |
Het |
| Mocos |
C |
T |
18: 24,701,456 (GRCm38) |
S850L |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,082,754 (GRCm38) |
S1364T |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,185,328 (GRCm38) |
N208K |
probably benign |
Het |
| Olfm5 |
A |
G |
7: 104,154,053 (GRCm38) |
L401P |
probably damaging |
Het |
| Olfr109 |
T |
A |
17: 37,467,080 (GRCm38) |
Y291* |
probably null |
Het |
| Olfr1238 |
C |
A |
2: 89,406,522 (GRCm38) |
A186S |
possibly damaging |
Het |
| Olfr331 |
T |
C |
11: 58,502,340 (GRCm38) |
D72G |
probably damaging |
Het |
| Olfr828 |
G |
A |
9: 18,815,892 (GRCm38) |
T134M |
probably benign |
Het |
| Olfr952 |
T |
A |
9: 39,426,891 (GRCm38) |
Y60F |
probably damaging |
Het |
| Oxgr1 |
T |
C |
14: 120,022,448 (GRCm38) |
N116D |
probably damaging |
Het |
| Pcdha11 |
G |
T |
18: 37,012,169 (GRCm38) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,358,322 (GRCm38) |
I418V |
probably benign |
Het |
| Pih1d2 |
T |
C |
9: 50,618,609 (GRCm38) |
V62A |
probably benign |
Het |
| Pkib |
T |
A |
10: 57,728,138 (GRCm38) |
V46E |
probably damaging |
Het |
| Pum1 |
A |
G |
4: 130,728,287 (GRCm38) |
|
probably null |
Het |
| Rbak |
G |
T |
5: 143,176,552 (GRCm38) |
Q19K |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,576,961 (GRCm38) |
T32A |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,167,873 (GRCm38) |
W835R |
probably damaging |
Het |
| Sis |
T |
G |
3: 72,911,854 (GRCm38) |
K1456N |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,179,729 (GRCm38) |
N675I |
probably benign |
Het |
| Slc8a3 |
C |
A |
12: 81,315,627 (GRCm38) |
M139I |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,802,759 (GRCm38) |
F1182S |
probably damaging |
Het |
| St8sia2 |
A |
T |
7: 73,971,921 (GRCm38) |
I96N |
probably damaging |
Het |
| Stx19 |
T |
C |
16: 62,822,057 (GRCm38) |
S79P |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,375,267 (GRCm38) |
V698M |
probably damaging |
Het |
| Timm22 |
T |
C |
11: 76,411,139 (GRCm38) |
S150P |
probably damaging |
Het |
| Tjp1 |
C |
T |
7: 65,313,205 (GRCm38) |
D995N |
possibly damaging |
Het |
| Tmem135 |
T |
A |
7: 89,147,794 (GRCm38) |
T365S |
probably benign |
Het |
| Tmem174 |
T |
C |
13: 98,636,981 (GRCm38) |
T114A |
probably benign |
Het |
| Tnc |
A |
G |
4: 64,007,816 (GRCm38) |
I909T |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,241,330 (GRCm38) |
I62V |
possibly damaging |
Het |
| Tulp1 |
A |
T |
17: 28,356,031 (GRCm38) |
*487K |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,131,646 (GRCm38) |
V1826E |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,174,116 (GRCm38) |
N238K |
probably damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,637,738 (GRCm38) |
N298Y |
probably damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,712,902 (GRCm38) |
F246I |
probably damaging |
Het |
| Vps9d1 |
A |
C |
8: 123,248,639 (GRCm38) |
V194G |
probably damaging |
Het |
| Zfp260 |
A |
T |
7: 30,104,810 (GRCm38) |
H45L |
possibly damaging |
Het |
| Zfp846 |
A |
T |
9: 20,593,720 (GRCm38) |
H292L |
possibly damaging |
Het |
|
| Other mutations in Oca2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Oca2
|
APN |
7 |
56,280,846 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01022:Oca2
|
APN |
7 |
56,324,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01666:Oca2
|
APN |
7 |
56,314,811 (GRCm38) |
splice site |
probably null |
|
|
IGL02157:Oca2
|
APN |
7 |
56,324,797 (GRCm38) |
splice site |
probably null |
|
|
IGL02213:Oca2
|
APN |
7 |
56,321,484 (GRCm38) |
splice site |
probably benign |
|
|
IGL02314:Oca2
|
APN |
7 |
56,357,151 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03083:Oca2
|
APN |
7 |
56,295,484 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL03356:Oca2
|
APN |
7 |
56,535,968 (GRCm38) |
missense |
probably benign |
0.01 |
|
charbon
|
UTSW |
7 |
56,316,405 (GRCm38) |
missense |
probably damaging |
1.00 |
|
cotton
|
UTSW |
7 |
56,535,968 (GRCm38) |
missense |
probably benign |
0.00 |
|
cutworm
|
UTSW |
7 |
56,316,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Dirk
|
UTSW |
7 |
56,535,968 (GRCm38) |
missense |
probably benign |
0.00 |
|
draco1
|
UTSW |
7 |
56,423,352 (GRCm38) |
missense |
probably benign |
0.00 |
|
faded
|
UTSW |
7 |
56,324,661 (GRCm38) |
missense |
probably benign |
0.19 |
|
hardy
|
UTSW |
7 |
56,295,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
narwhal
|
UTSW |
7 |
56,295,498 (GRCm38) |
nonsense |
probably null |
|
|
quicksilver
|
UTSW |
7 |
56,324,661 (GRCm38) |
missense |
probably benign |
0.19 |
|
renesmee
|
UTSW |
7 |
56,535,968 (GRCm38) |
missense |
probably benign |
0.00 |
|
slush
|
UTSW |
7 |
56,277,441 (GRCm38) |
critical splice donor site |
probably null |
|
|
snowflake
|
UTSW |
7 |
56,324,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
whitemouse
|
UTSW |
7 |
56,414,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0440:Oca2
|
UTSW |
7 |
56,423,352 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1067:Oca2
|
UTSW |
7 |
56,316,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1349:Oca2
|
UTSW |
7 |
56,535,968 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1372:Oca2
|
UTSW |
7 |
56,535,968 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1457:Oca2
|
UTSW |
7 |
56,321,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1737:Oca2
|
UTSW |
7 |
56,328,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1802:Oca2
|
UTSW |
7 |
56,254,980 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R1957:Oca2
|
UTSW |
7 |
56,321,498 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1966:Oca2
|
UTSW |
7 |
56,414,467 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2082:Oca2
|
UTSW |
7 |
56,297,137 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2229:Oca2
|
UTSW |
7 |
56,357,155 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4120:Oca2
|
UTSW |
7 |
56,254,882 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4192:Oca2
|
UTSW |
7 |
56,297,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4405:Oca2
|
UTSW |
7 |
56,414,434 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R4654:Oca2
|
UTSW |
7 |
56,328,812 (GRCm38) |
missense |
probably benign |
0.44 |
|
R4701:Oca2
|
UTSW |
7 |
56,255,002 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4887:Oca2
|
UTSW |
7 |
56,330,358 (GRCm38) |
nonsense |
probably null |
|
|
R5053:Oca2
|
UTSW |
7 |
56,323,580 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5215:Oca2
|
UTSW |
7 |
56,295,498 (GRCm38) |
nonsense |
probably null |
|
|
R5430:Oca2
|
UTSW |
7 |
56,295,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5677:Oca2
|
UTSW |
7 |
56,414,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6645:Oca2
|
UTSW |
7 |
56,314,774 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7257:Oca2
|
UTSW |
7 |
56,279,538 (GRCm38) |
intron |
probably benign |
|
|
R7409:Oca2
|
UTSW |
7 |
56,414,397 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7530:Oca2
|
UTSW |
7 |
56,331,972 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7820:Oca2
|
UTSW |
7 |
56,331,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9043:Oca2
|
UTSW |
7 |
56,277,441 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9153:Oca2
|
UTSW |
7 |
56,293,838 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9205:Oca2
|
UTSW |
7 |
56,316,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9681:Oca2
|
UTSW |
7 |
56,293,875 (GRCm38) |
missense |
probably null |
1.00 |
|
Z1088:Oca2
|
UTSW |
7 |
56,330,375 (GRCm38) |
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