Incidental Mutation 'IGL01549:Tap2'
ID |
90547 |
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 # |
IGL01549
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34433303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 489
(T489A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025197]
[ENSMUST00000121995]
|
AlphaFold |
P36371 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025197
AA Change: T489A
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000025197 Gene: ENSMUSG00000024339 AA Change: T489A
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 |
silent
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
C |
T |
18: 70,601,106 (GRCm39) |
V259I |
possibly damaging |
Het |
Abhd4 |
C |
T |
14: 54,504,589 (GRCm39) |
T273I |
probably damaging |
Het |
Adamtsl3 |
T |
C |
7: 82,261,656 (GRCm39) |
S1691P |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,495,090 (GRCm39) |
S901P |
probably benign |
Het |
Ank3 |
C |
T |
10: 69,768,250 (GRCm39) |
S56F |
probably damaging |
Het |
Ccdc74a |
A |
G |
16: 17,468,406 (GRCm39) |
S343G |
probably benign |
Het |
Clec7a |
A |
T |
6: 129,449,640 (GRCm39) |
Y3* |
probably null |
Het |
Il6 |
A |
G |
5: 30,224,469 (GRCm39) |
T170A |
probably benign |
Het |
Itgax |
C |
A |
7: 127,730,378 (GRCm39) |
|
probably null |
Het |
Lrrc17 |
A |
T |
5: 21,775,288 (GRCm39) |
R283S |
probably benign |
Het |
Muc1 |
C |
T |
3: 89,139,117 (GRCm39) |
P533S |
probably damaging |
Het |
Or10j5 |
T |
C |
1: 172,784,541 (GRCm39) |
Y60H |
probably damaging |
Het |
Or13n4 |
T |
C |
7: 106,423,236 (GRCm39) |
I166V |
probably benign |
Het |
Or4c121 |
C |
T |
2: 89,024,133 (GRCm39) |
V82I |
probably benign |
Het |
Or4d10c |
T |
A |
19: 12,065,329 (GRCm39) |
I276F |
probably benign |
Het |
Or8k37 |
A |
C |
2: 86,469,705 (GRCm39) |
S116A |
probably benign |
Het |
Or8k37 |
T |
C |
2: 86,469,876 (GRCm39) |
M59V |
possibly damaging |
Het |
Pcnt |
A |
C |
10: 76,203,320 (GRCm39) |
|
probably null |
Het |
Pde4b |
A |
T |
4: 102,462,265 (GRCm39) |
D647V |
probably damaging |
Het |
Phldb2 |
T |
C |
16: 45,594,681 (GRCm39) |
M875V |
probably benign |
Het |
Prkar2b |
T |
C |
12: 32,111,071 (GRCm39) |
E4G |
possibly damaging |
Het |
Rab2a |
C |
A |
4: 8,582,393 (GRCm39) |
S125Y |
probably benign |
Het |
Samm50 |
A |
G |
15: 84,086,982 (GRCm39) |
I264V |
probably benign |
Het |
Sgsh |
C |
T |
11: 119,241,755 (GRCm39) |
A90T |
probably damaging |
Het |
Wdr38 |
T |
G |
2: 38,890,730 (GRCm39) |
S201R |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,464,522 (GRCm39) |
D1560G |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,013,181 (GRCm39) |
T568A |
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 |
|
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 |
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 |
2013-12-09 |