Incidental Mutation 'R1296:Tap2'
| ID |
158156 |
| 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 |
039362-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R1296 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34430889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 330
(V330L)
|
| 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: V330L
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: V330L
| 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
|
| Meta Mutation Damage Score |
0.0983 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.1%
|
| Validation Efficiency |
100% (72/72) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
G |
A |
8: 56,324,754 (GRCm39) |
Q567* |
probably null |
Het |
| Apol11a |
T |
C |
15: 77,395,219 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
A |
G |
3: 121,786,044 (GRCm39) |
H275R |
probably benign |
Het |
| Arhgef17 |
C |
A |
7: 100,530,476 (GRCm39) |
E428* |
probably null |
Het |
| Atm |
A |
T |
9: 53,367,830 (GRCm39) |
V2431E |
probably damaging |
Het |
| Atn1 |
G |
T |
6: 124,724,750 (GRCm39) |
P161Q |
unknown |
Het |
| Atp13a2 |
T |
C |
4: 140,721,113 (GRCm39) |
S99P |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,780,049 (GRCm39) |
|
probably benign |
Het |
| Cdk18 |
T |
C |
1: 132,047,698 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
A |
G |
4: 133,894,711 (GRCm39) |
W32R |
probably damaging |
Het |
| Cntn4 |
G |
T |
6: 106,486,363 (GRCm39) |
G264C |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,940,052 (GRCm39) |
S1293P |
possibly damaging |
Het |
| Col6a6 |
T |
C |
9: 105,658,290 (GRCm39) |
K641E |
probably damaging |
Het |
| Dmd |
A |
T |
X: 82,922,126 (GRCm39) |
K1465N |
probably damaging |
Het |
| Dus2 |
T |
C |
8: 106,779,675 (GRCm39) |
V403A |
possibly damaging |
Het |
| Frs2 |
C |
T |
10: 116,916,979 (GRCm39) |
C5Y |
probably benign |
Het |
| Gm5174 |
A |
G |
10: 86,492,866 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr61 |
A |
G |
3: 108,057,797 (GRCm39) |
V288A |
possibly damaging |
Het |
| Grik3 |
G |
A |
4: 125,598,357 (GRCm39) |
|
probably benign |
Het |
| Haao |
T |
A |
17: 84,146,267 (GRCm39) |
Q69L |
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,942,352 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,221,204 (GRCm39) |
I724V |
possibly damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,613,123 (GRCm39) |
C749Y |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,697,877 (GRCm39) |
D471G |
possibly damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,801,185 (GRCm39) |
Y122C |
probably damaging |
Het |
| Mif-ps9 |
T |
A |
19: 56,743,766 (GRCm39) |
|
noncoding transcript |
Het |
| Mrfap1 |
A |
G |
5: 36,953,817 (GRCm39) |
S41P |
possibly damaging |
Het |
| Mrm2 |
T |
C |
5: 140,314,308 (GRCm39) |
T176A |
probably benign |
Het |
| Mslnl |
T |
C |
17: 25,962,214 (GRCm39) |
L204P |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,238,144 (GRCm39) |
E112G |
probably benign |
Het |
| Nfyb |
A |
G |
10: 82,586,665 (GRCm39) |
|
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,522 (GRCm39) |
|
probably benign |
Het |
| Nr3c1 |
G |
A |
18: 39,620,051 (GRCm39) |
Q79* |
probably null |
Het |
| Nxpe4 |
C |
G |
9: 48,307,793 (GRCm39) |
T299R |
probably benign |
Het |
| Otud4 |
C |
A |
8: 80,400,603 (GRCm39) |
H1105N |
unknown |
Het |
| Pcnx2 |
A |
G |
8: 126,500,572 (GRCm39) |
L1506P |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,364,009 (GRCm39) |
H88Q |
probably damaging |
Het |
| Psmb2 |
A |
G |
4: 126,580,825 (GRCm39) |
Y73C |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,011,891 (GRCm39) |
V688D |
probably benign |
Het |
| Rhox2g |
C |
A |
X: 36,824,865 (GRCm39) |
|
probably benign |
Het |
| Rmnd5a |
G |
A |
6: 71,375,439 (GRCm39) |
L80F |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,702,765 (GRCm39) |
|
probably benign |
Het |
| Sele |
T |
A |
1: 163,878,379 (GRCm39) |
S239R |
probably damaging |
Het |
| Siglecf |
A |
T |
7: 43,005,344 (GRCm39) |
R435* |
probably null |
Het |
| Slc23a1 |
C |
T |
18: 35,755,676 (GRCm39) |
V407M |
possibly damaging |
Het |
| Slc6a14 |
G |
A |
X: 21,587,807 (GRCm39) |
V122I |
probably benign |
Het |
| Spdl1 |
T |
A |
11: 34,704,434 (GRCm39) |
E466D |
unknown |
Het |
| Stau2 |
A |
G |
1: 16,510,596 (GRCm39) |
F121L |
probably benign |
Het |
| Stxbp1 |
A |
T |
2: 32,684,648 (GRCm39) |
S594T |
probably benign |
Het |
| Sufu |
G |
A |
19: 46,443,159 (GRCm39) |
|
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,421,775 (GRCm39) |
L389P |
probably damaging |
Het |
| Tbx2 |
A |
G |
11: 85,725,592 (GRCm39) |
E181G |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,000,940 (GRCm39) |
V231A |
probably benign |
Het |
| Tmprss9 |
G |
T |
10: 80,726,279 (GRCm39) |
A510S |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,890,551 (GRCm39) |
C298Y |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,005 (GRCm39) |
L413Q |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,805,675 (GRCm39) |
I2335T |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,484,544 (GRCm39) |
N552S |
possibly damaging |
Het |
| Zc3h7a |
C |
T |
16: 10,978,890 (GRCm39) |
R95H |
probably damaging |
Het |
| Zfp598 |
A |
G |
17: 24,898,623 (GRCm39) |
N474S |
probably benign |
Het |
| Zng1 |
A |
T |
19: 24,920,039 (GRCm39) |
|
probably benign |
Het |
| Zpld1 |
T |
C |
16: 55,068,697 (GRCm39) |
D138G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGTGAGTGTGCGTGATACACTG -3'
(R):5'- ACCCTCCGTATGACTAGATACACGTC -3'
Sequencing Primer
(F):5'- tcccctcccctcccctc -3'
(R):5'- GACTAGATACACGTCTTTTTCCAGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation