Incidental Mutation 'IGL02677:Tap2'
ID |
303191 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02677
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
34423453-34435295 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 34431021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 374
(V374M)
|
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: V374M
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000025197 Gene: ENSMUSG00000024339 AA Change: V374M
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
|
Coding Region Coverage |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
G |
T |
7: 43,150,519 (GRCm39) |
Y84* |
probably null |
Het |
Adam5 |
A |
G |
8: 25,302,395 (GRCm39) |
|
probably benign |
Het |
Aipl1 |
T |
C |
11: 71,920,222 (GRCm39) |
E282G |
possibly damaging |
Het |
Akp3 |
A |
G |
1: 87,052,994 (GRCm39) |
D61G |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,488,478 (GRCm39) |
S451P |
probably damaging |
Het |
Csnka2ip |
A |
G |
16: 64,298,675 (GRCm39) |
L119P |
probably damaging |
Het |
Ddx19a |
T |
C |
8: 111,716,241 (GRCm39) |
E53G |
probably benign |
Het |
Ddx50 |
C |
T |
10: 62,452,072 (GRCm39) |
R116Q |
unknown |
Het |
Ddx60 |
A |
T |
8: 62,441,166 (GRCm39) |
E1078D |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,396,368 (GRCm39) |
D116G |
probably damaging |
Het |
Dsg4 |
A |
G |
18: 20,597,933 (GRCm39) |
T668A |
possibly damaging |
Het |
Dspp |
A |
G |
5: 104,323,843 (GRCm39) |
T329A |
possibly damaging |
Het |
Eftud2 |
T |
C |
11: 102,737,440 (GRCm39) |
T554A |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,555,083 (GRCm39) |
|
probably benign |
Het |
Ext2 |
A |
T |
2: 93,537,590 (GRCm39) |
F599I |
probably damaging |
Het |
Fahd1 |
A |
T |
17: 25,068,504 (GRCm39) |
I191N |
probably damaging |
Het |
Fcrl2 |
A |
T |
3: 87,166,694 (GRCm39) |
S100T |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,692,883 (GRCm39) |
C181S |
probably damaging |
Het |
Garre1 |
T |
A |
7: 33,941,834 (GRCm39) |
|
probably benign |
Het |
Gcnt4 |
A |
G |
13: 97,083,741 (GRCm39) |
I346V |
probably benign |
Het |
Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
Kcnma1 |
A |
G |
14: 23,513,224 (GRCm39) |
Y392H |
probably damaging |
Het |
Klc2 |
T |
C |
19: 5,161,696 (GRCm39) |
Y298C |
probably damaging |
Het |
Lamb3 |
G |
A |
1: 193,021,830 (GRCm39) |
V1011I |
probably benign |
Het |
Ldb1 |
T |
C |
19: 46,024,594 (GRCm39) |
|
probably benign |
Het |
Mcph1 |
A |
G |
8: 18,675,609 (GRCm39) |
K11E |
probably damaging |
Het |
Myc |
A |
G |
15: 61,861,513 (GRCm39) |
H374R |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,391,344 (GRCm39) |
Y853C |
probably damaging |
Het |
Or4k38 |
A |
T |
2: 111,166,147 (GRCm39) |
I92N |
probably damaging |
Het |
Pakap |
C |
T |
4: 57,856,263 (GRCm39) |
P572S |
probably benign |
Het |
Pclo |
A |
G |
5: 14,726,943 (GRCm39) |
|
probably benign |
Het |
Pde3a |
G |
A |
6: 141,350,898 (GRCm39) |
|
probably benign |
Het |
Per1 |
T |
C |
11: 68,997,486 (GRCm39) |
V887A |
probably benign |
Het |
Prokr1 |
G |
A |
6: 87,565,350 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,319,643 (GRCm39) |
I1021V |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,810,033 (GRCm39) |
E344G |
probably benign |
Het |
Sec24c |
A |
T |
14: 20,739,710 (GRCm39) |
D529V |
probably damaging |
Het |
Slc1a6 |
T |
C |
10: 78,624,898 (GRCm39) |
V101A |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tex15 |
T |
A |
8: 34,061,108 (GRCm39) |
D179E |
probably benign |
Het |
Tmem8b |
T |
C |
4: 43,686,092 (GRCm39) |
L241P |
probably damaging |
Het |
Tmprss11g |
T |
C |
5: 86,640,149 (GRCm39) |
D160G |
probably benign |
Het |
Trim30a |
C |
T |
7: 104,085,120 (GRCm39) |
C30Y |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,601,840 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
G |
1: 188,466,882 (GRCm39) |
R2849G |
probably damaging |
Het |
Usp5 |
A |
G |
6: 124,796,389 (GRCm39) |
V570A |
probably damaging |
Het |
Vipr1 |
T |
C |
9: 121,489,349 (GRCm39) |
|
probably benign |
Het |
Zc2hc1c |
A |
C |
12: 85,336,850 (GRCm39) |
D169A |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |