Incidental Mutation 'IGL03183:Tap2'
| ID |
412339 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tap2
|
| Ensembl Gene |
ENSMUSG00000024339 |
| Gene Name |
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) |
| Synonyms |
HAM2, MTP2, PSF2, Abcb3, Ham2, Ham-2, Tap-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
IGL03183
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 34424399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025196]
[ENSMUST00000025197]
[ENSMUST00000131105]
[ENSMUST00000138491]
[ENSMUST00000173441]
|
| AlphaFold |
P36371 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025196
|
| SMART Domains |
Protein: ENSMUSP00000025196
Gene: ENSMUSG00000024338
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
69 |
251 |
1.9e-49 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000025197
AA Change: L44Q
|
| SMART Domains |
Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: L44Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
transmembrane domain
|
97 |
119 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
151 |
419 |
1.8e-62 |
PFAM |
|
AAA
|
494 |
678 |
2.58e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127543
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131105
AA Change: L44Q
|
| SMART Domains |
Protein: ENSMUSP00000118700
Gene: ENSMUSG00000024339
AA Change: L44Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173770
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173441
|
| SMART Domains |
Protein: ENSMUSP00000134664
Gene: ENSMUSG00000024338
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
69 |
248 |
6.3e-53 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with Tap1 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in the human gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have no CD8+ T cells, although their numbers of CD4+ T cells and B cells are normal. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Chemically induced(1) |
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh6a1 |
A |
G |
12: 84,483,214 (GRCm39) |
|
probably null |
Het |
| Ano2 |
A |
T |
6: 125,687,592 (GRCm39) |
K32N |
probably benign |
Het |
| Asic1 |
A |
G |
15: 99,569,898 (GRCm39) |
H73R |
probably benign |
Het |
| B3glct |
A |
G |
5: 149,677,607 (GRCm39) |
D412G |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,733,640 (GRCm39) |
I1891V |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,889,721 (GRCm39) |
E1278G |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,960,718 (GRCm39) |
E33G |
probably benign |
Het |
| Celf4 |
T |
A |
18: 25,670,796 (GRCm39) |
Q129L |
probably benign |
Het |
| Celf4 |
G |
T |
18: 25,670,797 (GRCm39) |
Q129K |
probably benign |
Het |
| Cfap251 |
A |
G |
5: 123,392,682 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,909,588 (GRCm39) |
S817P |
probably damaging |
Het |
| Corin |
A |
G |
5: 72,458,929 (GRCm39) |
V940A |
probably damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,777,525 (GRCm39) |
N257Y |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,349,314 (GRCm39) |
V2441L |
possibly damaging |
Het |
| Evpl |
C |
T |
11: 116,112,438 (GRCm39) |
E1751K |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,403,623 (GRCm39) |
E125K |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,881,640 (GRCm39) |
|
probably benign |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| G3bp2 |
A |
C |
5: 92,202,905 (GRCm39) |
M362R |
possibly damaging |
Het |
| Grk5 |
T |
C |
19: 61,057,774 (GRCm39) |
F158S |
probably damaging |
Het |
| Hmbox1 |
G |
T |
14: 65,125,048 (GRCm39) |
Q188K |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,429,348 (GRCm39) |
D604E |
probably benign |
Het |
| Igkv6-32 |
T |
A |
6: 70,051,556 (GRCm39) |
T5S |
probably benign |
Het |
| Impa1 |
A |
G |
3: 10,388,054 (GRCm39) |
Y123H |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,879,550 (GRCm39) |
T612M |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,944,976 (GRCm39) |
|
probably null |
Het |
| Meis2 |
A |
G |
2: 115,890,002 (GRCm39) |
L160S |
probably damaging |
Het |
| Micu1 |
C |
T |
10: 59,563,870 (GRCm39) |
R31* |
probably null |
Het |
| Nlrp9a |
G |
T |
7: 26,256,882 (GRCm39) |
A167S |
probably damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,425 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or4d10 |
A |
T |
19: 12,051,392 (GRCm39) |
N201K |
probably damaging |
Het |
| Plpp6 |
A |
G |
19: 28,942,071 (GRCm39) |
N224S |
possibly damaging |
Het |
| Sdk2 |
T |
A |
11: 113,741,810 (GRCm39) |
H803L |
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,967,143 (GRCm39) |
T690A |
probably benign |
Het |
| Slc36a1 |
T |
A |
11: 55,119,017 (GRCm39) |
Y331N |
probably damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,183,009 (GRCm39) |
I184F |
possibly damaging |
Het |
| Stat3 |
T |
C |
11: 100,793,582 (GRCm39) |
I338V |
possibly damaging |
Het |
| Stk10 |
T |
A |
11: 32,554,143 (GRCm39) |
V610E |
possibly damaging |
Het |
| Syna |
A |
G |
5: 134,587,144 (GRCm39) |
S602P |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,539,084 (GRCm39) |
|
probably benign |
Het |
| Tra2b |
C |
A |
16: 22,073,303 (GRCm39) |
|
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,339,968 (GRCm39) |
|
probably null |
Het |
| Vmn2r121 |
G |
A |
X: 123,042,023 (GRCm39) |
T378I |
probably benign |
Het |
| Wdr1 |
A |
T |
5: 38,690,825 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Tap2
|
APN |
17 |
34,434,352 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL00802:Tap2
|
APN |
17 |
34,428,104 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01291:Tap2
|
APN |
17 |
34,428,184 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01337:Tap2
|
APN |
17 |
34,424,386 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01549:Tap2
|
APN |
17 |
34,433,303 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02433:Tap2
|
APN |
17 |
34,424,393 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02488:Tap2
|
APN |
17 |
34,433,616 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02657:Tap2
|
APN |
17 |
34,424,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02677:Tap2
|
APN |
17 |
34,431,021 (GRCm39) |
missense |
probably benign |
0.20 |
|
date
|
UTSW |
17 |
34,431,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
date2
|
UTSW |
17 |
34,433,006 (GRCm39) |
nonsense |
probably null |
|
|
ganymede
|
UTSW |
17 |
0 () |
small insertion |
|
|
|
hebe
|
UTSW |
17 |
0 () |
small insertion |
|
|
|
juventas
|
UTSW |
17 |
0 () |
small insertion |
|
|
|
Palm
|
UTSW |
17 |
34,434,914 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
3370:Tap2
|
UTSW |
17 |
34,428,253 (GRCm39) |
splice site |
probably null |
|
|
ANU05:Tap2
|
UTSW |
17 |
34,428,184 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4976:Tap2
|
UTSW |
17 |
34,424,673 (GRCm39) |
unclassified |
probably benign |
|
|
R0595:Tap2
|
UTSW |
17 |
34,431,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0841:Tap2
|
UTSW |
17 |
34,434,914 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1145:Tap2
|
UTSW |
17 |
34,434,914 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1145:Tap2
|
UTSW |
17 |
34,434,914 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1296:Tap2
|
UTSW |
17 |
34,430,889 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1567:Tap2
|
UTSW |
17 |
34,433,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1656:Tap2
|
UTSW |
17 |
34,424,927 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1693:Tap2
|
UTSW |
17 |
34,428,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2246:Tap2
|
UTSW |
17 |
34,427,775 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2251:Tap2
|
UTSW |
17 |
34,430,928 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2937:Tap2
|
UTSW |
17 |
34,431,328 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4682:Tap2
|
UTSW |
17 |
34,433,006 (GRCm39) |
nonsense |
probably null |
|
|
R5262:Tap2
|
UTSW |
17 |
34,432,990 (GRCm39) |
missense |
probably benign |
|
|
R6052:Tap2
|
UTSW |
17 |
34,433,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Tap2
|
UTSW |
17 |
34,431,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6196:Tap2
|
UTSW |
17 |
34,433,384 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7020:Tap2
|
UTSW |
17 |
34,433,388 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7677:Tap2
|
UTSW |
17 |
34,424,494 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7694:Tap2
|
UTSW |
17 |
34,424,671 (GRCm39) |
missense |
probably benign |
|
|
R8129:Tap2
|
UTSW |
17 |
34,424,672 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8256:Tap2
|
UTSW |
17 |
34,435,006 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9157:Tap2
|
UTSW |
17 |
34,431,004 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Tap2
|
UTSW |
17 |
34,424,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation