Incidental Mutation 'R5262:Tap2'
| ID |
475432 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
042857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R5262 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34432990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 424
(N424S)
|
| 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: N424S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: N424S
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145528
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
98% (61/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
A |
4: 126,390,557 (GRCm39) |
D821V |
possibly damaging |
Het |
| Ankdd1b |
C |
A |
13: 96,557,281 (GRCm39) |
R384L |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,950,586 (GRCm39) |
F65S |
probably damaging |
Het |
| Cfap53 |
A |
C |
18: 74,462,530 (GRCm39) |
S425R |
probably benign |
Het |
| Corin |
A |
G |
5: 72,462,298 (GRCm39) |
V837A |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,502,572 (GRCm39) |
V188E |
probably damaging |
Het |
| Defb26 |
A |
T |
2: 152,349,878 (GRCm39) |
M134K |
unknown |
Het |
| Dnah10 |
A |
C |
5: 124,862,220 (GRCm39) |
K2158N |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 66,003,159 (GRCm39) |
V882M |
probably benign |
Het |
| Dpyd |
C |
A |
3: 118,591,071 (GRCm39) |
Y186* |
probably null |
Het |
| Elovl1 |
G |
A |
4: 118,288,124 (GRCm39) |
|
probably benign |
Het |
| Fars2 |
T |
A |
13: 36,526,001 (GRCm39) |
I329N |
probably damaging |
Het |
| Gstm1 |
T |
A |
3: 107,923,679 (GRCm39) |
M109L |
probably benign |
Het |
| Gtf2e1 |
T |
C |
16: 37,356,293 (GRCm39) |
T80A |
probably damaging |
Het |
| Gtf2h2 |
A |
G |
13: 100,618,356 (GRCm39) |
|
probably benign |
Het |
| Hrh4 |
G |
T |
18: 13,148,870 (GRCm39) |
L77F |
probably damaging |
Het |
| Ifi47 |
A |
G |
11: 48,986,559 (GRCm39) |
T109A |
probably benign |
Het |
| Igsf5 |
G |
T |
16: 96,192,237 (GRCm39) |
E179* |
probably null |
Het |
| Ints8 |
A |
G |
4: 11,211,916 (GRCm39) |
I885T |
probably damaging |
Het |
| Iqgap1 |
T |
G |
7: 80,376,490 (GRCm39) |
I1341L |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,269,219 (GRCm39) |
L2567P |
probably damaging |
Het |
| Lilrb4a |
T |
C |
10: 51,369,303 (GRCm39) |
|
probably null |
Het |
| Maip1 |
G |
A |
1: 57,446,131 (GRCm39) |
R67H |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,237,375 (GRCm39) |
I254F |
possibly damaging |
Het |
| Nfkb1 |
A |
T |
3: 135,318,173 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
T |
C |
7: 26,159,236 (GRCm39) |
|
probably null |
Het |
| Nrap |
A |
T |
19: 56,308,655 (GRCm39) |
I1477N |
possibly damaging |
Het |
| Pdgfa |
A |
G |
5: 138,979,049 (GRCm39) |
S52P |
probably benign |
Het |
| Pou1f1 |
G |
T |
16: 65,328,868 (GRCm39) |
E196* |
probably null |
Het |
| Ppp2r5e |
G |
A |
12: 75,640,045 (GRCm39) |
R19W |
probably damaging |
Het |
| Ptn |
T |
A |
6: 36,721,419 (GRCm39) |
Q7L |
probably benign |
Het |
| Rbp3 |
G |
T |
14: 33,676,807 (GRCm39) |
A252S |
probably damaging |
Het |
| Rcor2 |
G |
T |
19: 7,251,426 (GRCm39) |
V313L |
probably damaging |
Het |
| Rtp3 |
A |
T |
9: 110,815,195 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,787,323 (GRCm39) |
T1017A |
probably damaging |
Het |
| Scgb2b11 |
T |
C |
7: 31,908,776 (GRCm39) |
N108S |
probably benign |
Het |
| Sgo2b |
C |
A |
8: 64,396,171 (GRCm39) |
L28F |
probably damaging |
Het |
| Shroom3 |
A |
G |
5: 93,112,432 (GRCm39) |
E1850G |
probably damaging |
Het |
| Slc16a14 |
A |
G |
1: 84,890,612 (GRCm39) |
L231P |
probably benign |
Het |
| Slfn5 |
A |
G |
11: 82,847,496 (GRCm39) |
E127G |
possibly damaging |
Het |
| Snx16 |
C |
T |
3: 10,502,892 (GRCm39) |
M118I |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,633,741 (GRCm39) |
F176L |
probably damaging |
Het |
| Tcf7l1 |
T |
C |
6: 72,613,449 (GRCm39) |
|
probably benign |
Het |
| Trappc8 |
C |
T |
18: 20,951,247 (GRCm39) |
V1400I |
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,542,494 (GRCm39) |
Y485H |
possibly damaging |
Het |
| U2af1l4 |
C |
T |
7: 30,263,638 (GRCm39) |
T65I |
probably benign |
Het |
| Ufl1 |
G |
T |
4: 25,251,294 (GRCm39) |
|
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,593,031 (GRCm39) |
N762S |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,539,926 (GRCm39) |
D1465V |
probably benign |
Het |
| Vmn1r48 |
A |
T |
6: 90,013,016 (GRCm39) |
S270T |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,541,697 (GRCm39) |
Y9F |
possibly damaging |
Het |
| Wwp1 |
A |
G |
4: 19,631,057 (GRCm39) |
F659L |
probably damaging |
Het |
| Zbtb24 |
C |
T |
10: 41,340,556 (GRCm39) |
Q529* |
probably null |
Het |
| Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-04-19 |
Incidental Mutation