Mutagenetix > Incidental Mutation

Incidental Mutation 'R2937:Tap2'

255102

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

040514-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R2937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34423453-34435295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34431328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 422 (V422A)

Ref Sequence

ENSEMBL: ENSMUSP00000025197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025197] [ENSMUST00000121995]

AlphaFold

P36371

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025197
AA Change: V422A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: V422A

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

0.5809

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,258,350 (GRCm39)	E481G	probably damaging	Het
Anks1b	C	T	10: 89,912,928 (GRCm39)	T351M	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Asph	A	C	4: 9,542,314 (GRCm39)		probably benign	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Cfap91	A	T	16: 38,131,400 (GRCm39)	I471N	possibly damaging	Het
Clca3a2	T	A	3: 144,519,679 (GRCm39)	T232S	probably benign	Het
Col1a2	G	A	6: 4,519,882 (GRCm39)		probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Cpd	T	C	11: 76,702,685 (GRCm39)	N561S	probably damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dnah10	T	C	5: 124,896,476 (GRCm39)		probably null	Het
Dsg2	T	C	18: 20,712,185 (GRCm39)	F107S	probably damaging	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fermt2	A	C	14: 45,741,948 (GRCm39)		probably null	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Grtp1	G	A	8: 13,239,755 (GRCm39)		probably benign	Het
Hecw1	G	T	13: 14,420,421 (GRCm39)	Q1001K	possibly damaging	Het
Hydin	T	C	8: 111,130,927 (GRCm39)	V606A	possibly damaging	Het
Krt33b	T	A	11: 99,914,835 (GRCm39)	N388I	probably benign	Het
Lipf	T	C	19: 33,950,438 (GRCm39)	Y277H	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Med17	T	C	9: 15,187,187 (GRCm39)	K196E	probably damaging	Het
Mmp25	T	A	17: 23,863,765 (GRCm39)	I22F	probably benign	Het
Nrg3	T	A	14: 38,092,965 (GRCm39)	N540I	possibly damaging	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Or52ad1	T	C	7: 102,995,272 (GRCm39)	M288V	probably benign	Het
Or52r1c	T	A	7: 102,735,548 (GRCm39)	H269Q	probably benign	Het
Pcdh1	G	T	18: 38,322,815 (GRCm39)	A1006E	probably benign	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Plaa	G	A	4: 94,457,696 (GRCm39)	A758V	probably damaging	Het
Prl6a1	T	A	13: 27,499,303 (GRCm39)	W24R	probably damaging	Het
Ptk7	T	C	17: 46,883,476 (GRCm39)	H863R	probably damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Rhou	T	C	8: 124,387,880 (GRCm39)	I204T	possibly damaging	Het
Serpind1	G	T	16: 17,154,972 (GRCm39)	M266I	probably benign	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Slc2a2	T	G	3: 28,772,920 (GRCm39)	C238G	probably damaging	Het
Slc39a8	A	G	3: 135,592,584 (GRCm39)	M420V	probably benign	Het
Slc7a9	C	A	7: 35,163,167 (GRCm39)	Y457*	probably null	Het
Smpd3	C	T	8: 106,991,452 (GRCm39)	R367H	probably damaging	Het
Sntb2	T	C	8: 107,662,729 (GRCm39)	V99A	probably benign	Het
Specc1l	T	G	10: 75,094,965 (GRCm39)	I796R	probably damaging	Het
Stfa2l1	G	T	16: 35,980,316 (GRCm39)	V29F	probably damaging	Het
Synrg	T	C	11: 83,885,180 (GRCm39)	F455S	probably damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tcp10a	A	G	17: 7,597,173 (GRCm39)	Y110C	probably damaging	Het
Thoc1	T	A	18: 9,959,255 (GRCm39)	S43R	probably damaging	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Trpc3	G	A	3: 36,688,532 (GRCm39)	R836*	probably null	Het
Tsbp1	A	T	17: 34,640,836 (GRCm39)	H57L	possibly damaging	Het
Ube2u	T	C	4: 100,381,495 (GRCm39)	S185P	possibly damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vcp	A	G	4: 42,980,846 (GRCm39)	Y755H	probably damaging	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdfy3	A	T	5: 102,091,988 (GRCm39)	F450L	probably benign	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Xylt1	C	A	7: 117,234,011 (GRCm39)	Q513K	probably benign	Het
Zfp229	T	C	17: 21,964,484 (GRCm39)	F238S	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
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'- ATGTAGACAGCTGTGGTGGC -3'
(R):5'- AATTTAGGGTGGAGTCAGGC -3'

Sequencing Primer
(F):5'- CCTGGAAAAAGACGTGTATCTAGTC -3'
(R):5'- TGGAGTCAGGCTAGGGTTAGAG -3'

Posted On

2014-12-29