Incidental Mutation 'IGL02488:Tap2'
ID |
295533 |
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 # |
IGL02488
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 34433616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025197]
[ENSMUST00000121995]
|
AlphaFold |
P36371 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025197
|
SMART Domains |
Protein: ENSMUSP00000025197 Gene: ENSMUSG00000024339
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 |
probably benign
Transcript: ENSMUST00000121995
|
SMART Domains |
Protein: ENSMUSP00000112395 Gene: ENSMUSG00000081512
Domain | Start | End | E-Value | Type |
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127543
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
C |
T |
8: 25,282,022 (GRCm39) |
D417N |
probably damaging |
Het |
Akr1d1 |
A |
T |
6: 37,544,095 (GRCm39) |
E324D |
probably benign |
Het |
Ankrd34a |
A |
G |
3: 96,506,229 (GRCm39) |
I478V |
probably benign |
Het |
C8b |
A |
G |
4: 104,661,278 (GRCm39) |
H498R |
probably benign |
Het |
Cct6a |
T |
G |
5: 129,866,885 (GRCm39) |
|
probably benign |
Het |
Enpp7 |
C |
A |
11: 118,879,640 (GRCm39) |
T98N |
probably damaging |
Het |
Fcna |
A |
T |
2: 25,515,223 (GRCm39) |
|
probably null |
Het |
Gtdc1 |
A |
G |
2: 44,715,451 (GRCm39) |
Y31H |
probably benign |
Het |
Gzme |
A |
T |
14: 56,355,849 (GRCm39) |
N154K |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,430,150 (GRCm39) |
V849A |
probably benign |
Het |
Hps1 |
C |
T |
19: 42,746,227 (GRCm39) |
|
probably benign |
Het |
Incenp |
A |
T |
19: 9,870,771 (GRCm39) |
I286N |
unknown |
Het |
Matn1 |
G |
T |
4: 130,671,804 (GRCm39) |
V24F |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,335,483 (GRCm39) |
T1302A |
probably damaging |
Het |
Megf10 |
A |
G |
18: 57,425,704 (GRCm39) |
Y1030C |
probably damaging |
Het |
Mpdu1 |
T |
C |
11: 69,549,435 (GRCm39) |
T87A |
probably damaging |
Het |
Or1j18 |
T |
A |
2: 36,624,362 (GRCm39) |
S10T |
probably benign |
Het |
Or52h1 |
T |
A |
7: 103,829,478 (GRCm39) |
I46F |
possibly damaging |
Het |
Pde6h |
A |
G |
6: 136,940,264 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
A |
G |
15: 44,421,993 (GRCm39) |
I3088V |
probably benign |
Het |
Plec |
G |
T |
15: 76,063,359 (GRCm39) |
T2259K |
possibly damaging |
Het |
Ptch2 |
C |
T |
4: 116,967,593 (GRCm39) |
R754C |
probably damaging |
Het |
Ptpn12 |
T |
C |
5: 21,227,060 (GRCm39) |
T81A |
possibly damaging |
Het |
Sars2 |
C |
T |
7: 28,441,585 (GRCm39) |
R49* |
probably null |
Het |
Scyl1 |
G |
T |
19: 5,820,341 (GRCm39) |
Y164* |
probably null |
Het |
Smarcd1 |
T |
C |
15: 99,609,082 (GRCm39) |
C419R |
possibly damaging |
Het |
Syne2 |
C |
A |
12: 76,012,512 (GRCm39) |
R2568S |
probably benign |
Het |
Thrb |
T |
A |
14: 18,033,455 (GRCm38) |
I406K |
probably damaging |
Het |
Tnn |
T |
A |
1: 159,968,163 (GRCm39) |
I410F |
probably benign |
Het |
Tns2 |
T |
C |
15: 102,021,178 (GRCm39) |
S940P |
probably benign |
Het |
Trav6-2 |
A |
G |
14: 52,905,243 (GRCm39) |
K88R |
probably benign |
Het |
Ttbk2 |
T |
C |
2: 120,586,352 (GRCm39) |
M386V |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,215,675 (GRCm39) |
E224G |
probably damaging |
Het |
Vmn1r46 |
T |
A |
6: 89,953,963 (GRCm39) |
C271S |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,302,560 (GRCm39) |
E1808G |
possibly damaging |
Het |
Zfp385a |
A |
G |
15: 103,228,733 (GRCm39) |
I42T |
probably damaging |
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 |
|
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 |
IGL03183:Tap2
|
APN |
17 |
34,424,399 (GRCm39) |
unclassified |
probably benign |
|
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 |
2015-04-16 |