Incidental Mutation 'R1693:Tap2'
| ID |
191968 |
| 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 |
039726-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R1693 (G1)
|
| Quality Score |
142 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 34428186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 287
(V287L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025197]
[ENSMUST00000121995]
[ENSMUST00000131105]
[ENSMUST00000138491]
|
| AlphaFold |
P36371 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025197
AA Change: V287L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: V287L
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000145528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172796
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
96% (69/72) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
A |
G |
11: 53,287,380 (GRCm39) |
D378G |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,124,701 (GRCm39) |
Y981H |
probably damaging |
Het |
| Arfgap2 |
T |
A |
2: 91,100,420 (GRCm39) |
|
probably null |
Het |
| Ccnf |
TGGGGG |
TGGGGGGG |
17: 24,445,514 (GRCm39) |
|
probably null |
Het |
| Cd53 |
T |
C |
3: 106,676,205 (GRCm39) |
N54S |
possibly damaging |
Het |
| Cep152 |
C |
A |
2: 125,408,174 (GRCm39) |
A1390S |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,162,085 (GRCm39) |
Y19H |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,864,307 (GRCm39) |
|
probably null |
Het |
| Chrm5 |
A |
G |
2: 112,309,625 (GRCm39) |
L497P |
probably damaging |
Het |
| Colec12 |
G |
A |
18: 9,866,765 (GRCm39) |
V659M |
unknown |
Het |
| Creb3 |
C |
A |
4: 43,566,755 (GRCm39) |
H390Q |
probably damaging |
Het |
| D1Pas1 |
T |
C |
1: 186,700,226 (GRCm39) |
F52L |
probably benign |
Het |
| D5Ertd579e |
A |
G |
5: 36,771,441 (GRCm39) |
F985L |
probably damaging |
Het |
| Dock4 |
C |
T |
12: 40,884,721 (GRCm39) |
P1742S |
probably benign |
Het |
| Ehmt2 |
G |
T |
17: 35,125,386 (GRCm39) |
V534L |
possibly damaging |
Het |
| Epcam |
A |
G |
17: 87,947,324 (GRCm39) |
D26G |
probably benign |
Het |
| F2 |
C |
T |
2: 91,459,524 (GRCm39) |
V420M |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,265,327 (GRCm39) |
D401E |
possibly damaging |
Het |
| Fiz1 |
T |
C |
7: 5,011,727 (GRCm39) |
T264A |
probably benign |
Het |
| Fsbp |
T |
C |
4: 11,583,745 (GRCm39) |
V148A |
probably benign |
Het |
| Furin |
A |
G |
7: 80,042,230 (GRCm39) |
L455P |
probably damaging |
Het |
| Ggt7 |
G |
A |
2: 155,348,395 (GRCm39) |
R10W |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,211,358 (GRCm39) |
E624G |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,923,203 (GRCm39) |
F1202S |
probably damaging |
Het |
| Ikzf1 |
C |
T |
11: 11,657,838 (GRCm39) |
P32S |
probably damaging |
Het |
| Itgal |
G |
A |
7: 126,904,453 (GRCm39) |
V309M |
probably damaging |
Het |
| Kcnk5 |
C |
A |
14: 20,191,964 (GRCm39) |
R399L |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,525,314 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,340,762 (GRCm39) |
V1038M |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,322,698 (GRCm39) |
Y1096H |
probably damaging |
Het |
| Lrrc7 |
C |
G |
3: 157,790,170 (GRCm39) |
S1465T |
possibly damaging |
Het |
| Map3k5 |
A |
G |
10: 19,979,988 (GRCm39) |
N832S |
probably damaging |
Het |
| Mrtfb |
C |
A |
16: 13,216,334 (GRCm39) |
L349I |
possibly damaging |
Het |
| Mrtfb |
T |
A |
16: 13,216,335 (GRCm39) |
L349Q |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,232,310 (GRCm39) |
M495L |
possibly damaging |
Het |
| Myh9 |
A |
C |
15: 77,697,097 (GRCm39) |
Y106D |
probably damaging |
Het |
| Naa16 |
A |
T |
14: 79,588,896 (GRCm39) |
W452R |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,395,074 (GRCm39) |
S892P |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,187,906 (GRCm39) |
I939V |
probably benign |
Het |
| Oit3 |
A |
G |
10: 59,261,239 (GRCm39) |
F476S |
probably damaging |
Het |
| Or7e174 |
T |
C |
9: 20,012,883 (GRCm39) |
V276A |
probably benign |
Het |
| Panx3 |
A |
T |
9: 37,580,203 (GRCm39) |
M50K |
possibly damaging |
Het |
| Panx3 |
A |
C |
9: 37,580,242 (GRCm39) |
M37R |
possibly damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,886,631 (GRCm39) |
D68E |
probably benign |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prkaca |
T |
A |
8: 84,707,827 (GRCm39) |
D37E |
probably benign |
Het |
| Prkcq |
T |
A |
2: 11,259,010 (GRCm39) |
I310N |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,546,282 (GRCm39) |
Y235H |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,280,141 (GRCm39) |
C1052* |
probably null |
Het |
| Rad52 |
C |
A |
6: 119,892,996 (GRCm39) |
P180Q |
probably damaging |
Het |
| Sdhaf3 |
T |
A |
6: 7,038,964 (GRCm39) |
D95E |
probably benign |
Het |
| Slitrk6 |
A |
G |
14: 110,988,360 (GRCm39) |
I449T |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,630,516 (GRCm39) |
M358K |
possibly damaging |
Het |
| Tada2a |
C |
T |
11: 83,972,895 (GRCm39) |
G178D |
probably damaging |
Het |
| Tmem200a |
A |
G |
10: 25,869,877 (GRCm39) |
F131L |
possibly damaging |
Het |
| Traip |
A |
T |
9: 107,847,229 (GRCm39) |
K356M |
probably damaging |
Het |
| Tspan8 |
T |
A |
10: 115,679,949 (GRCm39) |
|
probably benign |
Het |
| U2surp |
A |
T |
9: 95,393,913 (GRCm39) |
M1K |
probably null |
Het |
| Vars1 |
A |
T |
17: 35,217,172 (GRCm39) |
D427E |
probably benign |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,532 (GRCm39) |
C108Y |
probably damaging |
Het |
| Vmn2r63 |
T |
A |
7: 42,577,743 (GRCm39) |
Q265L |
probably benign |
Het |
| Vps33b |
T |
A |
7: 79,937,641 (GRCm39) |
V463E |
probably damaging |
Het |
| Vrtn |
T |
C |
12: 84,695,429 (GRCm39) |
S60P |
probably benign |
Het |
| Zfp53 |
T |
A |
17: 21,729,884 (GRCm39) |
V639D |
possibly damaging |
Het |
| Zfp964 |
T |
A |
8: 70,116,800 (GRCm39) |
S466T |
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 |
|
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'- CAGAGGAAGGTTTTGGGTTCCCATC -3'
(R):5'- AGACTCTGAGAAGCTCACTGGAAGG -3'
Sequencing Primer
(F):5'- GGGTTCCCATCATCCTTTCTG -3'
(R):5'- tctactacctacctatccatccac -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation