Incidental Mutation 'R7677:Tap2'
| ID |
592539 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R7677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34424494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 76
(F76L)
|
| 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: F76L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: F76L
| 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
AA Change: F76L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000118700
Gene: ENSMUSG00000024339
AA Change: F76L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,248,349 (GRCm39) |
R2699* |
probably null |
Het |
| Adra2a |
G |
A |
19: 54,035,375 (GRCm39) |
V244M |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,344,845 (GRCm39) |
S12G |
probably benign |
Het |
| Arhgap20 |
T |
A |
9: 51,751,698 (GRCm39) |
M383K |
probably damaging |
Het |
| Armc12 |
T |
C |
17: 28,756,865 (GRCm39) |
V210A |
probably benign |
Het |
| Ash1l |
A |
T |
3: 88,950,500 (GRCm39) |
H2131L |
probably damaging |
Het |
| Atg5 |
T |
C |
10: 44,223,035 (GRCm39) |
L219P |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,474,915 (GRCm39) |
M507L |
probably benign |
Het |
| Atr |
T |
A |
9: 95,767,515 (GRCm39) |
L1191I |
probably damaging |
Het |
| B4galt5 |
T |
C |
2: 167,146,998 (GRCm39) |
T279A |
probably damaging |
Het |
| Bglap2 |
T |
C |
3: 88,285,280 (GRCm39) |
E62G |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,127,926 (GRCm39) |
S1157P |
unknown |
Het |
| Ccdc17 |
T |
C |
4: 116,454,962 (GRCm39) |
|
probably null |
Het |
| Cdc6 |
T |
A |
11: 98,810,191 (GRCm39) |
L500* |
probably null |
Het |
| Dst |
G |
T |
1: 34,208,403 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
C |
T |
3: 84,811,373 (GRCm39) |
T166I |
|
Het |
| Fer1l6 |
T |
C |
15: 58,474,139 (GRCm39) |
V955A |
probably benign |
Het |
| Fezf2 |
T |
C |
14: 12,344,941 (GRCm38) |
E82G |
probably benign |
Het |
| Flii |
T |
C |
11: 60,610,971 (GRCm39) |
D486G |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,804,854 (GRCm39) |
T476A |
probably benign |
Het |
| Gbp3 |
C |
T |
3: 142,266,264 (GRCm39) |
|
probably benign |
Het |
| Hebp2 |
T |
C |
10: 18,421,547 (GRCm39) |
|
probably benign |
Het |
| Hhipl2 |
T |
A |
1: 183,204,951 (GRCm39) |
M88K |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,459,171 (GRCm39) |
C605R |
probably benign |
Het |
| Hoxd13 |
T |
C |
2: 74,498,909 (GRCm39) |
S86P |
probably benign |
Het |
| Hspa12a |
G |
T |
19: 58,849,317 (GRCm39) |
A2E |
probably benign |
Het |
| Il1rl1 |
A |
C |
1: 40,485,864 (GRCm39) |
*338C |
probably null |
Het |
| Lrrc37a |
G |
T |
11: 103,390,464 (GRCm39) |
P1654T |
probably benign |
Het |
| Mybpc3 |
A |
T |
2: 90,959,376 (GRCm39) |
D704V |
probably benign |
Het |
| Napsa |
A |
T |
7: 44,231,130 (GRCm39) |
K120* |
probably null |
Het |
| Nat3 |
A |
C |
8: 68,000,139 (GRCm39) |
Y6S |
probably damaging |
Het |
| Negr1 |
C |
T |
3: 156,774,823 (GRCm39) |
Q180* |
probably null |
Het |
| Nynrin |
T |
A |
14: 56,107,693 (GRCm39) |
D933E |
probably benign |
Het |
| Or10al3 |
T |
A |
17: 38,011,957 (GRCm39) |
I132K |
probably damaging |
Het |
| Or10c1 |
A |
T |
17: 37,522,386 (GRCm39) |
Y119* |
probably null |
Het |
| Or2l5 |
G |
A |
16: 19,333,678 (GRCm39) |
A236V |
probably benign |
Het |
| Or6k2 |
A |
T |
1: 173,986,614 (GRCm39) |
I92F |
probably damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,831 (GRCm39) |
S263T |
possibly damaging |
Het |
| Or8c16 |
T |
A |
9: 38,130,324 (GRCm39) |
N65K |
probably damaging |
Het |
| Or9s23 |
C |
T |
1: 92,500,983 (GRCm39) |
T30I |
not run |
Het |
| Pbx1 |
A |
T |
1: 168,030,995 (GRCm39) |
F208I |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,144,605 (GRCm39) |
V232A |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,558,593 (GRCm39) |
Y605H |
possibly damaging |
Het |
| Pde3a |
T |
A |
6: 141,195,983 (GRCm39) |
L223Q |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pitpnm2 |
G |
A |
5: 124,261,632 (GRCm39) |
R977C |
probably damaging |
Het |
| Pkdrej |
A |
C |
15: 85,699,788 (GRCm39) |
D2049E |
probably benign |
Het |
| Psmd6 |
T |
C |
14: 14,120,837 (GRCm38) |
D16G |
probably benign |
Het |
| Pth2r |
C |
A |
1: 65,427,605 (GRCm39) |
T426N |
probably benign |
Het |
| Ralgapa1 |
G |
T |
12: 55,705,928 (GRCm39) |
L1865M |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,664,245 (GRCm39) |
Q1702L |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,446,176 (GRCm39) |
Y135C |
probably benign |
Het |
| Sdha |
G |
A |
13: 74,481,172 (GRCm39) |
R345* |
probably null |
Het |
| Selp |
A |
T |
1: 163,961,525 (GRCm39) |
S413C |
probably damaging |
Het |
| Sirt2 |
G |
A |
7: 28,484,835 (GRCm39) |
C221Y |
probably damaging |
Het |
| Skic2 |
A |
T |
17: 35,067,140 (GRCm39) |
S100T |
probably benign |
Het |
| Socs7 |
C |
A |
11: 97,280,468 (GRCm39) |
Q566K |
probably benign |
Het |
| Spdye4c |
G |
A |
2: 128,436,056 (GRCm39) |
V151M |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,158,980 (GRCm39) |
D2952G |
unknown |
Het |
| Srd5a2 |
A |
T |
17: 74,354,749 (GRCm39) |
L25Q |
probably damaging |
Het |
| Srrt |
A |
T |
5: 137,298,410 (GRCm39) |
V254D |
probably damaging |
Het |
| Tdpoz4 |
T |
A |
3: 93,704,815 (GRCm39) |
*371R |
probably null |
Het |
| Tm9sf3 |
A |
T |
19: 41,209,743 (GRCm39) |
F441I |
probably damaging |
Het |
| Tmem259 |
C |
T |
10: 79,814,414 (GRCm39) |
R314Q |
probably damaging |
Het |
| Trim28 |
G |
T |
7: 12,762,040 (GRCm39) |
R312L |
possibly damaging |
Het |
| Tsc1 |
A |
G |
2: 28,562,829 (GRCm39) |
T393A |
probably benign |
Het |
| Txndc11 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 10,952,338 (GRCm39) |
|
probably benign |
Het |
| Ube2v2 |
T |
C |
16: 15,398,964 (GRCm39) |
T42A |
probably benign |
Het |
| Vmn2r-ps158 |
A |
C |
7: 42,674,163 (GRCm39) |
H414P |
probably damaging |
Het |
| Zfp609 |
A |
T |
9: 65,604,456 (GRCm39) |
S1342R |
possibly damaging |
Het |
| Zg16 |
A |
T |
7: 126,649,763 (GRCm39) |
V66E |
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 |
|
R7020:Tap2
|
UTSW |
17 |
34,433,388 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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'- CTTGGGTTGCTACAAGGATCTC -3'
(R):5'- CTATGAGGAAAGGCAGGTCC -3'
Sequencing Primer
(F):5'- CTACAAGGATCTCTGGGAAATCTGC -3'
(R):5'- TGGACAGCTTCAGCAACCG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation