Incidental Mutation 'R7020:Tap2'
ID |
545588 |
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 |
045121-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.206)
|
Stock # |
R7020 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34433388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 517
(N517S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025197]
[ENSMUST00000121995]
|
AlphaFold |
P36371 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025197
AA Change: N517S
PolyPhen 2
Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000025197 Gene: ENSMUSG00000024339 AA Change: N517S
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 |
|
Meta Mutation Damage Score |
0.0858 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (52/52) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
C |
T |
12: 110,634,975 (GRCm39) |
G188R |
probably damaging |
Het |
Abhd3 |
T |
C |
18: 10,645,127 (GRCm39) |
Y384C |
probably damaging |
Het |
Cd209b |
T |
A |
8: 3,968,783 (GRCm39) |
E282V |
probably damaging |
Het |
Cep350 |
A |
C |
1: 155,804,077 (GRCm39) |
L1002W |
probably damaging |
Het |
Clcn1 |
T |
C |
6: 42,275,754 (GRCm39) |
V292A |
probably damaging |
Het |
Clcn7 |
T |
C |
17: 25,365,325 (GRCm39) |
I107T |
possibly damaging |
Het |
Cntrob |
A |
G |
11: 69,193,918 (GRCm39) |
|
probably null |
Het |
Crb1 |
A |
T |
1: 139,159,341 (GRCm39) |
S1294T |
possibly damaging |
Het |
Cst13 |
T |
G |
2: 148,665,129 (GRCm39) |
Y41* |
probably null |
Het |
Gp1ba |
A |
G |
11: 70,531,139 (GRCm39) |
|
probably benign |
Het |
Gucy2e |
A |
T |
11: 69,123,619 (GRCm39) |
L427I |
probably benign |
Het |
Gucy2g |
A |
G |
19: 55,221,482 (GRCm39) |
S340P |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,393,360 (GRCm39) |
T4080A |
probably benign |
Het |
Iglon5 |
A |
T |
7: 43,126,319 (GRCm39) |
C195S |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,002,195 (GRCm39) |
T100A |
probably damaging |
Het |
Jarid2 |
C |
T |
13: 45,038,300 (GRCm39) |
S205L |
probably damaging |
Het |
Macrod2 |
A |
T |
2: 142,231,795 (GRCm39) |
*424C |
probably null |
Het |
Map2k6 |
A |
T |
11: 110,397,540 (GRCm39) |
|
probably benign |
Het |
Muc4 |
A |
T |
16: 32,570,628 (GRCm39) |
K563* |
probably null |
Het |
Myh7b |
T |
C |
2: 155,473,671 (GRCm39) |
I1568T |
possibly damaging |
Het |
Myo15b |
G |
A |
11: 115,757,493 (GRCm39) |
W1114* |
probably null |
Het |
Mypn |
T |
C |
10: 63,028,289 (GRCm39) |
Y258C |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,371,586 (GRCm39) |
T288A |
possibly damaging |
Het |
Npc1 |
C |
T |
18: 12,331,594 (GRCm39) |
G859R |
probably damaging |
Het |
Olfm2 |
T |
A |
9: 20,579,864 (GRCm39) |
R326W |
probably damaging |
Het |
Or2a7 |
T |
C |
6: 43,151,096 (GRCm39) |
Y59H |
possibly damaging |
Het |
Or5al7 |
A |
G |
2: 85,992,363 (GRCm39) |
I310T |
probably benign |
Het |
Or5g23 |
A |
G |
2: 85,438,976 (GRCm39) |
S93P |
probably benign |
Het |
Ovol1 |
G |
A |
19: 5,610,261 (GRCm39) |
P23L |
probably damaging |
Het |
Pappa2 |
C |
A |
1: 158,675,579 (GRCm39) |
V1056F |
probably damaging |
Het |
Pik3ca |
T |
C |
3: 32,490,428 (GRCm39) |
L25S |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,277,743 (GRCm39) |
H860R |
possibly damaging |
Het |
Pms1 |
A |
T |
1: 53,228,541 (GRCm39) |
H902Q |
probably damaging |
Het |
Ptgs1 |
T |
G |
2: 36,141,041 (GRCm39) |
L496R |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,188,638 (GRCm39) |
Y1381* |
probably null |
Het |
Rtl1 |
T |
C |
12: 109,558,749 (GRCm39) |
Q1030R |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,583,423 (GRCm39) |
Y2816F |
probably benign |
Het |
Sh2b2 |
T |
C |
5: 136,253,153 (GRCm39) |
T340A |
possibly damaging |
Het |
Slc30a5 |
T |
A |
13: 100,961,421 (GRCm39) |
|
probably null |
Het |
Spta1 |
T |
C |
1: 174,036,918 (GRCm39) |
L1143P |
probably damaging |
Het |
St8sia5 |
T |
C |
18: 77,333,876 (GRCm39) |
I178T |
probably damaging |
Het |
Tcp11 |
A |
G |
17: 28,290,679 (GRCm39) |
Y227H |
possibly damaging |
Het |
Usp34 |
A |
G |
11: 23,343,954 (GRCm39) |
D1411G |
probably benign |
Het |
Vmn2r105 |
A |
G |
17: 20,429,336 (GRCm39) |
L580P |
probably damaging |
Het |
Wdr19 |
A |
G |
5: 65,413,657 (GRCm39) |
E1200G |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,355,913 (GRCm39) |
V3558A |
probably benign |
Het |
Xpo7 |
T |
C |
14: 70,903,463 (GRCm39) |
N1082S |
probably benign |
Het |
Zbtb49 |
A |
T |
5: 38,370,711 (GRCm39) |
L390* |
probably null |
Het |
Zfp639 |
C |
A |
3: 32,574,261 (GRCm39) |
D295E |
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 |
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 |
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'- GGATCGGAACCTTTCTCTCTGC -3'
(R):5'- CACCTGTACAGAGCGGAAAG -3'
Sequencing Primer
(F):5'- TCTCTCTGCTGCGGAGGTC -3'
(R):5'- GTTCCTCATGATGGACCCCAG -3'
|
Posted On |
2019-05-13 |