Incidental Mutation 'R8129:Tap2'
| ID |
631933 |
| 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 |
067558-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R8129 (G1)
|
| Quality Score |
217.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34424672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 135
(T135I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025196]
[ENSMUST00000025197]
[ENSMUST00000131105]
[ENSMUST00000138491]
[ENSMUST00000173441]
|
| AlphaFold |
P36371 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025196
|
| SMART Domains |
Protein: ENSMUSP00000025196
Gene: ENSMUSG00000024338
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
69 |
251 |
1.9e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025197
AA Change: T135I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: T135I
| 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: ENSMUST00000131105
|
| SMART Domains |
Protein: ENSMUSP00000118700
Gene: ENSMUSG00000024339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173441
|
| SMART Domains |
Protein: ENSMUSP00000134664
Gene: ENSMUSG00000024338
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
69 |
248 |
6.3e-53 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 85.2%
|
| Validation Efficiency |
98% (99/101) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
C |
2: 35,266,187 (GRCm39) |
D161G |
probably damaging |
Het |
| Adamts19 |
T |
C |
18: 59,140,559 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
T |
19: 8,977,464 (GRCm39) |
M1L |
not run |
Het |
| Appl1 |
A |
G |
14: 26,671,466 (GRCm39) |
S329P |
possibly damaging |
Het |
| Bach1 |
C |
T |
16: 87,519,314 (GRCm39) |
R535W |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,915,033 (GRCm39) |
D77G |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,468,975 (GRCm39) |
D913E |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,864,208 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
T |
C |
3: 130,290,050 (GRCm39) |
S247P |
probably damaging |
Het |
| Commd8 |
T |
C |
5: 72,320,164 (GRCm39) |
M126V |
unknown |
Het |
| Dpysl4 |
C |
T |
7: 138,666,076 (GRCm39) |
T13M |
probably benign |
Het |
| Epc1 |
A |
G |
18: 6,439,634 (GRCm39) |
V776A |
possibly damaging |
Het |
| Fancg |
G |
T |
4: 43,005,036 (GRCm39) |
|
probably null |
Het |
| Fdx1 |
T |
C |
9: 51,859,926 (GRCm39) |
T135A |
probably benign |
Het |
| Fgf7 |
T |
C |
2: 125,877,765 (GRCm39) |
V44A |
probably benign |
Het |
| Fgfr3 |
A |
T |
5: 33,891,250 (GRCm39) |
M523L |
probably damaging |
Het |
| Focad |
A |
T |
4: 88,151,000 (GRCm39) |
H548L |
unknown |
Het |
| Ftsj3 |
C |
A |
11: 106,144,657 (GRCm39) |
V111F |
probably benign |
Het |
| Gm28168 |
T |
A |
1: 117,857,483 (GRCm39) |
D12E |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,844 (GRCm39) |
T488A |
probably benign |
Het |
| Hormad2 |
C |
A |
11: 4,296,648 (GRCm39) |
V279L |
probably benign |
Het |
| Hs6st1 |
A |
G |
1: 36,108,105 (GRCm39) |
K123E |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,754,320 (GRCm39) |
S589P |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,341,447 (GRCm39) |
H286Q |
probably benign |
Het |
| Il1rl1 |
T |
A |
1: 40,490,987 (GRCm39) |
C423S |
probably damaging |
Het |
| L1td1 |
A |
T |
4: 98,621,563 (GRCm39) |
M42L |
probably benign |
Het |
| Large1 |
T |
C |
8: 73,542,585 (GRCm39) |
D713G |
probably damaging |
Het |
| Llgl2 |
C |
A |
11: 115,741,737 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,260,624 (GRCm39) |
V4536M |
possibly damaging |
Het |
| Map3k19 |
A |
C |
1: 127,750,420 (GRCm39) |
L977R |
possibly damaging |
Het |
| Myo15a |
A |
T |
11: 60,399,026 (GRCm39) |
D1617V |
|
Het |
| Nek3 |
A |
G |
8: 22,639,908 (GRCm39) |
I189T |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,355,068 (GRCm39) |
|
probably null |
Het |
| Omd |
A |
C |
13: 49,745,565 (GRCm39) |
D325A |
probably damaging |
Het |
| Or1x6 |
G |
A |
11: 50,939,210 (GRCm39) |
R92K |
probably benign |
Het |
| Or4a76 |
C |
A |
2: 89,460,792 (GRCm39) |
G150V |
probably damaging |
Het |
| Or52h7 |
A |
G |
7: 104,213,584 (GRCm39) |
Y52C |
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,448,508 (GRCm39) |
Y16F |
probably damaging |
Het |
| Pabpc6 |
C |
T |
17: 9,887,427 (GRCm39) |
V375I |
possibly damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,832 (GRCm39) |
D447G |
probably damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,262,944 (GRCm39) |
W1032R |
probably damaging |
Het |
| Ppp2r5d |
T |
C |
17: 46,995,263 (GRCm39) |
Y524C |
probably benign |
Het |
| Ppp4r3b |
T |
C |
11: 29,159,364 (GRCm39) |
Y573H |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,096,200 (GRCm39) |
I568T |
probably benign |
Het |
| Ptpn22 |
G |
A |
3: 103,797,600 (GRCm39) |
|
probably null |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,549 (GRCm39) |
D507G |
probably damaging |
Het |
| Rdh7 |
A |
G |
10: 127,723,370 (GRCm39) |
S162P |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,113,775 (GRCm39) |
A378V |
probably benign |
Het |
| Scaf11 |
A |
G |
15: 96,317,350 (GRCm39) |
F738S |
probably damaging |
Het |
| Sdk1 |
C |
A |
5: 142,177,648 (GRCm39) |
N2031K |
probably benign |
Het |
| Serpina3c |
A |
T |
12: 104,118,056 (GRCm39) |
L94Q |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,381,834 (GRCm39) |
S333G |
possibly damaging |
Het |
| Slc22a15 |
A |
G |
3: 101,822,658 (GRCm39) |
V88A |
possibly damaging |
Het |
| Smarcad1 |
G |
T |
6: 65,044,078 (GRCm39) |
D217Y |
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,765,390 (GRCm39) |
F244S |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,443,959 (GRCm39) |
D2156N |
possibly damaging |
Het |
| Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
| Tbx15 |
G |
T |
3: 99,161,254 (GRCm39) |
V20F |
probably damaging |
Het |
| Tes |
A |
T |
6: 17,065,242 (GRCm39) |
|
probably benign |
Het |
| Tmem39b |
A |
T |
4: 129,572,468 (GRCm39) |
M378K |
probably damaging |
Het |
| Trim44 |
A |
G |
2: 102,230,848 (GRCm39) |
V61A |
unknown |
Het |
| Ttll5 |
T |
C |
12: 85,937,858 (GRCm39) |
|
probably null |
Het |
| Tubgcp4 |
C |
T |
2: 121,004,109 (GRCm39) |
T50I |
possibly damaging |
Het |
| Txndc17 |
G |
A |
11: 72,098,588 (GRCm39) |
V47M |
probably damaging |
Het |
| Ubp1 |
A |
G |
9: 113,804,417 (GRCm39) |
E494G |
possibly damaging |
Het |
| Utp20 |
A |
T |
10: 88,628,487 (GRCm39) |
S936T |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,603,154 (GRCm39) |
D585G |
probably damaging |
Het |
| Wdtc1 |
A |
T |
4: 133,031,460 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
A |
G |
4: 34,807,386 (GRCm39) |
M1891T |
probably damaging |
Het |
| Zfp84 |
A |
C |
7: 29,475,862 (GRCm39) |
I185L |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,808,956 (GRCm39) |
F364L |
possibly 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 |
|
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 |
|
|
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'- TTCTCGCTAAGAGCTCTGGTG -3'
(R):5'- ACCTCCCAGGATGTCAATTAC -3'
Sequencing Primer
(F):5'- CTAAGAGCTCTGGTGGGAGGC -3'
(R):5'- GATTAATGTCTCCCCTGAAAGAGGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation