Incidental Mutation 'R1567:Tap2'
ID |
175381 |
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 |
039606-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R1567 (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 34433065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 449
(K449R)
|
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: K449R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000025197 Gene: ENSMUSG00000024339 AA Change: K449R
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 |
unknown
Transcript: ENSMUST00000121995
AA Change: F85L
|
SMART Domains |
Protein: ENSMUSP00000112395 Gene: ENSMUSG00000081512 AA Change: F85L
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: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
G |
A |
7: 120,030,352 (GRCm39) |
V155I |
probably benign |
Het |
Actrt2 |
T |
C |
4: 154,751,371 (GRCm39) |
Q255R |
possibly damaging |
Het |
Adar |
A |
T |
3: 89,643,088 (GRCm39) |
H323L |
probably benign |
Het |
Adgrg5 |
T |
A |
8: 95,664,326 (GRCm39) |
V312E |
probably damaging |
Het |
Anapc1 |
T |
C |
2: 128,459,636 (GRCm39) |
T1808A |
probably damaging |
Het |
Aox3 |
C |
A |
1: 58,233,852 (GRCm39) |
A1285E |
probably damaging |
Het |
Arhgap40 |
T |
A |
2: 158,388,719 (GRCm39) |
L551Q |
probably damaging |
Het |
Blk |
A |
G |
14: 63,618,178 (GRCm39) |
S243P |
probably damaging |
Het |
Cfap206 |
G |
T |
4: 34,716,490 (GRCm39) |
A325E |
probably benign |
Het |
Cimap1b |
C |
A |
15: 89,261,981 (GRCm39) |
R137L |
probably benign |
Het |
Cnn3 |
A |
T |
3: 121,243,607 (GRCm39) |
K23* |
probably null |
Het |
Cog8 |
G |
A |
8: 107,780,740 (GRCm39) |
R173* |
probably null |
Het |
Col11a1 |
G |
A |
3: 113,932,261 (GRCm39) |
R880H |
unknown |
Het |
Cyp2c40 |
T |
C |
19: 39,792,215 (GRCm39) |
Q243R |
probably null |
Het |
Dcbld1 |
A |
G |
10: 52,195,752 (GRCm39) |
E391G |
probably damaging |
Het |
Dchs1 |
C |
A |
7: 105,421,068 (GRCm39) |
A451S |
probably benign |
Het |
Ddx43 |
A |
G |
9: 78,323,991 (GRCm39) |
K441E |
probably damaging |
Het |
Depdc1a |
A |
T |
3: 159,228,177 (GRCm39) |
I310F |
possibly damaging |
Het |
Dnah17 |
C |
T |
11: 118,016,811 (GRCm39) |
V247M |
probably damaging |
Het |
Dtd1 |
G |
T |
2: 144,588,945 (GRCm39) |
G201V |
probably damaging |
Het |
Eif1ad3 |
A |
T |
12: 87,843,754 (GRCm39) |
I134F |
unknown |
Het |
Enoph1 |
G |
A |
5: 100,208,884 (GRCm39) |
G80S |
probably benign |
Het |
Fam76a |
A |
T |
4: 132,645,039 (GRCm39) |
Y48* |
probably null |
Het |
Fut9 |
T |
G |
4: 25,620,344 (GRCm39) |
T157P |
probably damaging |
Het |
Gm57859 |
T |
A |
11: 113,578,728 (GRCm39) |
V41D |
probably damaging |
Het |
Gtpbp1 |
T |
C |
15: 79,596,391 (GRCm39) |
I310T |
probably damaging |
Het |
Hk3 |
T |
A |
13: 55,154,418 (GRCm39) |
I753F |
probably damaging |
Het |
Hnrnpl |
G |
T |
7: 28,519,608 (GRCm39) |
A419S |
possibly damaging |
Het |
Ighv5-6 |
T |
C |
12: 113,589,528 (GRCm39) |
|
probably benign |
Het |
Itpkb |
A |
G |
1: 180,249,423 (GRCm39) |
T933A |
probably benign |
Het |
Kcnn2 |
T |
G |
18: 45,803,401 (GRCm39) |
|
probably null |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Lmcd1 |
C |
T |
6: 112,287,526 (GRCm39) |
R71C |
probably damaging |
Het |
Mrgprb1 |
A |
T |
7: 48,097,201 (GRCm39) |
V237E |
probably damaging |
Het |
Mybl1 |
T |
A |
1: 9,755,976 (GRCm39) |
E191V |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,335,279 (GRCm39) |
F158I |
possibly damaging |
Het |
Nbr1 |
C |
G |
11: 101,466,037 (GRCm39) |
L748V |
probably damaging |
Het |
Nlrp10 |
G |
A |
7: 108,526,257 (GRCm39) |
T27M |
probably benign |
Het |
Notch3 |
G |
A |
17: 32,377,554 (GRCm39) |
T174I |
possibly damaging |
Het |
Nup85 |
T |
A |
11: 115,459,224 (GRCm39) |
I109K |
possibly damaging |
Het |
Or10h28 |
A |
G |
17: 33,488,450 (GRCm39) |
I251V |
probably benign |
Het |
Or2b28 |
A |
T |
13: 21,531,595 (GRCm39) |
I166L |
probably benign |
Het |
Or2n1e |
A |
G |
17: 38,586,459 (GRCm39) |
I266V |
possibly damaging |
Het |
Or4c12b |
T |
C |
2: 89,647,528 (GRCm39) |
L280P |
probably damaging |
Het |
Or4k48 |
G |
T |
2: 111,476,271 (GRCm39) |
Q24K |
possibly damaging |
Het |
Or5b105 |
T |
C |
19: 13,080,006 (GRCm39) |
T221A |
probably benign |
Het |
Phf2 |
T |
C |
13: 48,985,589 (GRCm39) |
K64E |
unknown |
Het |
Polr2a |
T |
C |
11: 69,636,857 (GRCm39) |
T365A |
probably benign |
Het |
Prkcd |
A |
G |
14: 30,329,405 (GRCm39) |
C12R |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,401,748 (GRCm39) |
I1915V |
probably benign |
Het |
Rcbtb2 |
G |
A |
14: 73,399,902 (GRCm39) |
V112I |
probably benign |
Het |
Rxfp3 |
A |
G |
15: 11,036,187 (GRCm39) |
V395A |
probably benign |
Het |
Ryr2 |
C |
A |
13: 11,774,563 (GRCm39) |
G1198C |
possibly damaging |
Het |
Scn1a |
T |
A |
2: 66,103,675 (GRCm39) |
I1851F |
probably damaging |
Het |
Selenop |
A |
G |
15: 3,309,180 (GRCm39) |
*377W |
probably null |
Het |
Sema4a |
A |
T |
3: 88,359,353 (GRCm39) |
C113S |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,404,691 (GRCm39) |
S2575P |
probably benign |
Het |
Stk24 |
T |
A |
14: 121,545,468 (GRCm39) |
I97L |
probably benign |
Het |
Tecpr2 |
T |
A |
12: 110,908,030 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,727,955 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,246,505 (GRCm39) |
F1204L |
possibly damaging |
Het |
Ugt2b36 |
T |
C |
5: 87,240,258 (GRCm39) |
I42M |
probably damaging |
Het |
Zdhhc8 |
A |
G |
16: 18,044,984 (GRCm39) |
L274P |
probably benign |
Het |
Zfp974 |
C |
A |
7: 27,610,148 (GRCm39) |
D526Y |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTTTTCATCGCAAATCGGAACAC -3'
(R):5'- AATGATGTTCAGGCTGCGGGAG -3'
Sequencing Primer
(F):5'- ggggacagtggcacaag -3'
(R):5'- AGCAGAGAGAAAGGTTCCGATC -3'
|
Posted On |
2014-04-24 |