Incidental Mutation 'IGL01337:Tap2'
| ID |
74663 |
| 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 # |
IGL01337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 34424386 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: I40V
|
| SMART Domains |
Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: I40V
| 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: I40V
|
| SMART Domains |
Protein: ENSMUSP00000118700
Gene: ENSMUSG00000024339
AA Change: I40V
| 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: ENSMUST00000173770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172960
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,645,529 (GRCm39) |
Y1025H |
probably damaging |
Het |
| Adarb2 |
T |
C |
13: 8,620,282 (GRCm39) |
L256P |
probably benign |
Het |
| Arsj |
A |
G |
3: 126,158,763 (GRCm39) |
Y114C |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,192,700 (GRCm39) |
P1378L |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,800,939 (GRCm39) |
Y138C |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,376,663 (GRCm39) |
D1483N |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,198 (GRCm39) |
S617P |
probably benign |
Het |
| Fbxo34 |
T |
C |
14: 47,767,674 (GRCm39) |
S345P |
probably benign |
Het |
| Gm5420 |
A |
G |
10: 21,567,514 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr182 |
T |
A |
10: 127,586,655 (GRCm39) |
I99F |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,849,057 (GRCm39) |
I349T |
possibly damaging |
Het |
| Kifc5b |
A |
G |
17: 27,143,718 (GRCm39) |
T497A |
possibly damaging |
Het |
| Mllt3 |
A |
C |
4: 87,759,057 (GRCm39) |
D330E |
probably damaging |
Het |
| Mpp3 |
T |
C |
11: 101,891,411 (GRCm39) |
T576A |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,934,506 (GRCm39) |
M126V |
probably benign |
Het |
| Naalad2 |
T |
G |
9: 18,238,669 (GRCm39) |
D644A |
probably damaging |
Het |
| Or4a74 |
A |
G |
2: 89,439,720 (GRCm39) |
I242T |
probably damaging |
Het |
| Otof |
C |
A |
5: 30,563,121 (GRCm39) |
A242S |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,576,856 (GRCm39) |
D132G |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,491,869 (GRCm39) |
M68L |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,093,488 (GRCm39) |
Y385H |
probably damaging |
Het |
| Rxrb |
A |
G |
17: 34,255,605 (GRCm39) |
N254S |
probably damaging |
Het |
| Samd5 |
T |
A |
10: 9,504,768 (GRCm39) |
Y162F |
probably benign |
Het |
| Sapcd2 |
A |
G |
2: 25,266,491 (GRCm39) |
*392W |
probably null |
Het |
| Senp6 |
T |
C |
9: 80,043,792 (GRCm39) |
Y635H |
probably damaging |
Het |
| Serpine1 |
C |
A |
5: 137,098,185 (GRCm39) |
V163L |
probably damaging |
Het |
| Slc15a1 |
T |
C |
14: 121,698,091 (GRCm39) |
E678G |
possibly damaging |
Het |
| Slc22a16 |
T |
C |
10: 40,471,310 (GRCm39) |
F494L |
possibly damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,450,718 (GRCm39) |
C304* |
probably null |
Het |
| Spink1 |
G |
A |
18: 43,870,216 (GRCm39) |
|
probably benign |
Het |
| Star |
G |
A |
8: 26,299,892 (GRCm39) |
G78E |
probably damaging |
Het |
| Stx1a |
T |
C |
5: 135,074,518 (GRCm39) |
I203T |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,436,387 (GRCm39) |
D21G |
possibly damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,679,144 (GRCm39) |
I275N |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation