Incidental Mutation 'IGL00095:Tap2'
| ID |
801 |
| 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: 0.206)
|
| Stock # |
IGL00095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34434352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 613
(R613C)
|
| 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: R613C
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: R613C
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cadm2 |
A |
T |
16: 66,679,639 (GRCm39) |
Y65N |
probably damaging |
Het |
| Catsperg2 |
C |
A |
7: 29,397,483 (GRCm39) |
C1042F |
possibly damaging |
Het |
| Cluh |
T |
C |
11: 74,554,890 (GRCm39) |
V776A |
probably benign |
Het |
| Crxos |
T |
A |
7: 15,632,543 (GRCm39) |
C116* |
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,059,297 (GRCm39) |
|
probably benign |
Het |
| Cubn |
C |
A |
2: 13,496,631 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
G |
13: 31,004,609 (GRCm39) |
I858T |
probably benign |
Het |
| Frmpd1 |
C |
A |
4: 45,279,456 (GRCm39) |
T727K |
possibly damaging |
Het |
| Hapln3 |
T |
C |
7: 78,771,731 (GRCm39) |
T53A |
probably damaging |
Het |
| Hnrnpul1 |
T |
A |
7: 25,425,579 (GRCm39) |
Q584L |
possibly damaging |
Het |
| Ikbkb |
A |
T |
8: 23,196,127 (GRCm39) |
F26I |
probably damaging |
Het |
| Il31ra |
A |
T |
13: 112,684,012 (GRCm39) |
I120N |
possibly damaging |
Het |
| Itih1 |
C |
T |
14: 30,651,778 (GRCm39) |
V855M |
probably benign |
Het |
| Krtap4-16 |
A |
G |
11: 99,742,032 (GRCm39) |
S123P |
possibly damaging |
Het |
| Large1 |
C |
T |
8: 73,564,125 (GRCm39) |
R547Q |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,111 (GRCm39) |
|
probably benign |
Het |
| Mark1 |
A |
G |
1: 184,630,800 (GRCm39) |
V770A |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,440,074 (GRCm39) |
F511L |
probably benign |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,839 (GRCm39) |
V276A |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,677,594 (GRCm39) |
T666A |
probably damaging |
Het |
| Ndufa8 |
T |
C |
2: 35,934,467 (GRCm39) |
D37G |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,164,576 (GRCm39) |
L956P |
probably damaging |
Het |
| Nr5a1 |
T |
C |
2: 38,598,353 (GRCm39) |
E148G |
probably benign |
Het |
| Or10ab5 |
A |
T |
7: 108,245,043 (GRCm39) |
F247I |
possibly damaging |
Het |
| Or14c46 |
T |
C |
7: 85,918,877 (GRCm39) |
N40S |
probably damaging |
Het |
| Otulinl |
A |
G |
15: 27,658,202 (GRCm39) |
S273P |
possibly damaging |
Het |
| Patj |
A |
C |
4: 98,423,799 (GRCm39) |
Q1184P |
possibly damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,500,884 (GRCm39) |
T619A |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,173,441 (GRCm39) |
T643A |
probably damaging |
Het |
| Pramel42 |
T |
C |
5: 94,685,663 (GRCm39) |
L441P |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,483,677 (GRCm39) |
S510P |
probably damaging |
Het |
| Spock1 |
A |
G |
13: 57,735,552 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,297,400 (GRCm39) |
T577M |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,953,021 (GRCm39) |
V673A |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,716,784 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,068 (GRCm39) |
D393G |
probably benign |
Het |
| Zbtb48 |
T |
C |
4: 152,105,851 (GRCm39) |
H418R |
probably damaging |
Het |
| Zc3h12d |
T |
C |
10: 7,738,231 (GRCm39) |
V179A |
probably damaging |
Het |
|
| Other mutations in Tap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2011-07-12 |
Incidental Mutation