Incidental Mutation 'R0595:Tap2'
| ID |
55087 |
| 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 |
038785-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R0595 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34431328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 422
(V422D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025197]
[ENSMUST00000121995]
|
| AlphaFold |
P36371 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025197
AA Change: V422D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: V422D
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,790,417 (GRCm39) |
D1093E |
probably damaging |
Het |
| Aldh2 |
G |
T |
5: 121,711,563 (GRCm39) |
A276D |
probably damaging |
Het |
| Aldh2 |
C |
T |
5: 121,711,564 (GRCm39) |
A276T |
probably damaging |
Het |
| Aldh7a1 |
C |
T |
18: 56,679,965 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
C |
T |
7: 144,143,890 (GRCm39) |
R964H |
possibly damaging |
Het |
| Apob |
G |
A |
12: 8,058,369 (GRCm39) |
V2251I |
probably benign |
Het |
| Atp6v1e1 |
A |
G |
6: 120,778,091 (GRCm39) |
V148A |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,408,111 (GRCm39) |
H73Q |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,713 (GRCm39) |
V807A |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,540,001 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,321,703 (GRCm39) |
|
probably null |
Het |
| Cep152 |
T |
C |
2: 125,436,983 (GRCm39) |
Q519R |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,243,487 (GRCm39) |
Y1608* |
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,720,598 (GRCm39) |
I2619V |
unknown |
Het |
| Dnajb9 |
A |
G |
12: 44,255,067 (GRCm39) |
V7A |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,408 (GRCm39) |
K1358R |
unknown |
Het |
| Fbxw7 |
C |
A |
3: 84,884,674 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,777,296 (GRCm39) |
Y108H |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,328,493 (GRCm39) |
L331Q |
probably damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,548,242 (GRCm39) |
I25N |
possibly damaging |
Het |
| Krt75 |
C |
T |
15: 101,476,789 (GRCm39) |
E367K |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,206,950 (GRCm39) |
Y487C |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,968,574 (GRCm39) |
G59W |
probably damaging |
Het |
| Mme |
A |
G |
3: 63,235,602 (GRCm39) |
T129A |
probably benign |
Het |
| Mmp10 |
G |
A |
9: 7,508,199 (GRCm39) |
E442K |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,235,672 (GRCm39) |
S646P |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,535,917 (GRCm39) |
I2889N |
probably benign |
Het |
| Nlrp4d |
T |
A |
7: 10,114,972 (GRCm39) |
K581N |
probably benign |
Het |
| Nr3c2 |
C |
T |
8: 77,636,233 (GRCm39) |
P445S |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,810,868 (GRCm39) |
N289K |
probably damaging |
Het |
| Pck1 |
T |
A |
2: 172,998,822 (GRCm39) |
V360E |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,744,203 (GRCm39) |
D766G |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,614,156 (GRCm39) |
N1236S |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,625,952 (GRCm39) |
Q3326P |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,073,189 (GRCm39) |
M57T |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,511,120 (GRCm39) |
F330I |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,180,089 (GRCm39) |
E448G |
possibly damaging |
Het |
| Scn10a |
T |
A |
9: 119,495,129 (GRCm39) |
M371L |
probably benign |
Het |
| Sgta |
T |
C |
10: 80,884,742 (GRCm39) |
D189G |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,091 (GRCm39) |
H413R |
probably benign |
Het |
| Stau2 |
T |
C |
1: 16,510,674 (GRCm39) |
T95A |
probably damaging |
Het |
| Supt4a |
C |
T |
11: 87,633,982 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,605,003 (GRCm39) |
|
probably null |
Het |
| Tas2r138 |
A |
G |
6: 40,589,799 (GRCm39) |
L149P |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,062,645 (GRCm39) |
S692P |
probably damaging |
Het |
| Tgm2 |
C |
T |
2: 157,984,962 (GRCm39) |
R48H |
probably damaging |
Het |
| Ticrr |
T |
A |
7: 79,345,311 (GRCm39) |
F1725L |
possibly damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,778,670 (GRCm39) |
C672* |
probably null |
Het |
| Xkr9 |
A |
G |
1: 13,771,008 (GRCm39) |
I175V |
probably benign |
Het |
| Zfp428 |
T |
A |
7: 24,214,803 (GRCm39) |
S140T |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTCTGGCTGGAGAGGTCAC -3'
(R):5'- GCAGTTAGGGATAAGATTAGCCAGG -3'
Sequencing Primer
(F):5'- TGGAGAGGTCACCCGGGGTG -3'
(R):5'- TAATTTAGGGTGGAGTCAGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation