Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Tap2'

489306

Institutional Source

Beutler Lab

Gene Symbol

Tap2

Ensembl Gene

ENSMUSG00000024339

Gene Name

transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)

Synonyms

Abcb3, Ham-2, HAM2, Ham2, MTP2, PSF2, Tap-2

MMRRC Submission

044298-MU

Accession Numbers

Genbank: NM_011530; MGI: 98484

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R6151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34203527-34216321 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34212047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 374 (V374L)

Ref Sequence

ENSEMBL: ENSMUSP00000025197 (fasta)

Gene Model

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

AlphaFold

P36371

Predicted Effect

probably benign
Transcript: ENSMUST00000025197
AA Change: V374L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: V374L

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

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

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

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	T	13: 66,431,681	C248S	probably damaging	Het
3110009E18Rik	A	G	1: 120,171,486		probably null	Het
4930550C14Rik	G	T	9: 53,414,383	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261	V517A	probably benign	Het
Adck5	A	T	15: 76,594,687	K370N	possibly damaging	Het
Akap6	A	C	12: 53,025,792	D981A	probably damaging	Het
Apbb1	G	A	7: 105,574,252	R51*	probably null	Het
Arhgap23	A	G	11: 97,500,412	M1252V	probably benign	Het
Arhgef1	A	G	7: 24,917,942	T354A	probably benign	Het
Arid1a	G	T	4: 133,684,976	Q1636K	unknown	Het
Asmt	C	T	X: 170,676,467	A237V	possibly damaging	Het
Brat1	T	A	5: 140,705,961	C43S	probably benign	Het
Cd36	T	C	5: 17,795,595	Y370C	probably damaging	Het
Ceacam12	A	T	7: 18,069,105	L145F	probably benign	Het
Col24a1	C	T	3: 145,314,054	T62I	probably damaging	Het
Col6a3	G	T	1: 90,813,753	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,304,660	L140P	probably damaging	Het
Dhrs13	G	A	11: 78,036,982	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,853,353	E1158A	probably damaging	Het
Emp2	A	C	16: 10,292,281	F20C	probably damaging	Het
Enpep	T	C	3: 129,332,418	I22V	possibly damaging	Het
Epha2	A	G	4: 141,318,480		probably null	Het
Eprs	G	T	1: 185,407,754		probably null	Het
Etl4	T	A	2: 20,713,360	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,491,745	S89*	probably null	Het
F5	A	T	1: 164,181,635	I325F	probably damaging	Het
F5	G	A	1: 164,190,187	C611Y	probably damaging	Het
Fam133b	A	T	5: 3,559,133	S116C	probably null	Het
Fam13b	A	T	18: 34,494,277	D190E	probably damaging	Het
Fam169a	T	G	13: 97,093,630	Y58D	probably damaging	Het
Far1	G	A	7: 113,561,396	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,570,930	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,623,271	Q469K	unknown	Het
Frs3	A	T	17: 47,689,088		probably benign	Het
Gdpd3	A	G	7: 126,775,502	S290G	probably benign	Het
Gm6768	T	G	12: 119,261,106		noncoding transcript	Het
Gmip	T	A	8: 69,817,085	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,864,025	I176N	probably damaging	Het
Grm3	A	G	5: 9,511,556	F765L	probably damaging	Het
Hhat	A	T	1: 192,759,757	L2Q	probably damaging	Het
Hrasls5	C	T	19: 7,619,291	P148S	probably damaging	Het
Hspbap1	T	C	16: 35,817,222	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,461,289	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,295,668	K50*	probably null	Het
Kidins220	T	C	12: 25,056,909	S1454P	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,824,854	L356R	probably damaging	Het
Kndc1	A	T	7: 139,921,213	D806V	probably benign	Het
Krt26	T	C	11: 99,337,489	E139G	probably benign	Het
Lefty1	T	C	1: 180,935,116	F3L	unknown	Het
Madd	A	C	2: 91,165,457	Y853*	probably null	Het
Map1a	T	A	2: 121,289,823	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735	V815E	probably damaging	Het
Mettl3	A	G	14: 52,295,020	Y569H	probably damaging	Het
Mknk2	T	C	10: 80,669,025		probably null	Het
Mpp3	C	A	11: 102,008,566	R376S	probably benign	Het
Nup160	T	A	2: 90,690,105	Y293*	probably null	Het
Nupl1	A	T	14: 60,244,616	F100I	possibly damaging	Het
Nxpe2	A	C	9: 48,326,191	L255V	probably benign	Het
Olfr1423	T	C	19: 12,036,736	E2G	probably benign	Het
Olfr167	A	T	16: 19,515,531	L35Q	probably damaging	Het
Olfr390	T	A	11: 73,787,695	Y252*	probably null	Het
Olfr479	A	G	7: 108,055,899	I306V	probably benign	Het
Padi3	A	T	4: 140,796,394	D248E	probably damaging	Het
Paxip1	G	T	5: 27,761,618	H637N	probably damaging	Het
Pde4b	T	A	4: 102,601,551	M296K	probably damaging	Het
Pkd1	A	G	17: 24,575,606	H2089R	probably benign	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Rhebl1	T	C	15: 98,878,279	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426	V481E	possibly damaging	Het
Rtca	T	A	3: 116,507,827	T24S	probably benign	Het
Serpina3c	T	A	12: 104,152,068	I4F	possibly damaging	Het
Serpina3j	C	A	12: 104,317,390	A249E	possibly damaging	Het
Slc38a9	A	G	13: 112,689,376	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,690,563	V58I	possibly damaging	Het
Slfn8	T	A	11: 83,017,321	Y132F	probably damaging	Het
Smg6	T	G	11: 75,156,207	I1242S	probably damaging	Het
Tbc1d10b	G	A	7: 127,207,996	T123M	probably damaging	Het
Tenm2	A	C	11: 36,008,783	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,395,573	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,737,851	M355L	probably benign	Het
Tns4	C	T	11: 99,075,550	S433N	probably benign	Het
Traip	G	T	9: 107,970,619		probably null	Het
Trmo	G	A	4: 46,389,390	R2C	probably damaging	Het
Ttn	A	T	2: 76,944,160	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984	D380G	probably benign	Het
Ube2t	T	A	1: 134,967,960		probably null	Het
Ugdh	A	T	5: 65,417,581	Y367*	probably null	Het
Usp45	A	C	4: 21,810,797	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,361,914	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 20,101,435	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,801,670	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,583,959	Q490H	probably benign	Het
Vwa2	A	G	19: 56,903,465		probably null	Het
Vwf	A	G	6: 125,657,065	K169E	unknown	Het
Zc3h7b	G	C	15: 81,778,710		probably null	Het
Zfp458	T	A	13: 67,257,598	H259L	possibly damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,769,910	V1051A	probably benign	Het

Other mutations in Tap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Tap2	APN	17	34215378	missense	probably benign	0.09
IGL00802:Tap2	APN	17	34209130	missense	probably damaging	0.96
IGL01291:Tap2	APN	17	34209210	missense	probably benign	0.01
IGL01337:Tap2	APN	17	34205412	unclassified	probably benign
IGL01549:Tap2	APN	17	34214329	missense	probably benign	0.12
IGL02433:Tap2	APN	17	34205419	unclassified	probably benign
IGL02488:Tap2	APN	17	34214642	unclassified	probably benign
IGL02657:Tap2	APN	17	34205458	missense	probably damaging	0.99
IGL02677:Tap2	APN	17	34212047	missense	probably benign	0.20
IGL03183:Tap2	APN	17	34205425	unclassified	probably benign
date	UTSW	17	34212354	missense	probably damaging	0.99
date2	UTSW	17	34214032	nonsense	probably null
ganymede	UTSW	17		small insertion
hebe	UTSW	17		small insertion
juventas	UTSW	17		small insertion
Palm	UTSW	17	34215940	missense	possibly damaging	0.64
3370:Tap2	UTSW	17	34209279	splice site	probably null
ANU05:Tap2	UTSW	17	34209210	missense	probably benign	0.01
FR4976:Tap2	UTSW	17	34205699	unclassified	probably benign
R0595:Tap2	UTSW	17	34212354	missense	probably damaging	0.99
R0841:Tap2	UTSW	17	34215940	missense	possibly damaging	0.64
R1145:Tap2	UTSW	17	34215940	missense	possibly damaging	0.64
R1145:Tap2	UTSW	17	34215940	missense	possibly damaging	0.64
R1296:Tap2	UTSW	17	34211915	missense	probably benign	0.12
R1567:Tap2	UTSW	17	34214091	missense	probably benign	0.00
R1656:Tap2	UTSW	17	34205953	missense	possibly damaging	0.64
R1693:Tap2	UTSW	17	34209212	missense	probably benign	0.00
R2246:Tap2	UTSW	17	34208801	missense	possibly damaging	0.82
R2251:Tap2	UTSW	17	34211954	missense	probably damaging	0.98
R2937:Tap2	UTSW	17	34212354	missense	possibly damaging	0.80
R4682:Tap2	UTSW	17	34214032	nonsense	probably null
R5262:Tap2	UTSW	17	34214016	missense	probably benign
R6052:Tap2	UTSW	17	34214709	missense	probably damaging	1.00
R6196:Tap2	UTSW	17	34214410	missense	possibly damaging	0.50
R7020:Tap2	UTSW	17	34214414	missense	possibly damaging	0.78
R7677:Tap2	UTSW	17	34205520	missense	probably benign	0.01
R7694:Tap2	UTSW	17	34205697	missense	probably benign
R8129:Tap2	UTSW	17	34205698	missense	probably benign	0.01
R8256:Tap2	UTSW	17	34216032	missense	probably benign	0.04
R9157:Tap2	UTSW	17	34212030	missense	possibly damaging	0.85
Z1177:Tap2	UTSW	17	34205668	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTTCAGGCGGTGCTAAAGG -3'
(R):5'- CAGAATCAGCACCTGCATGC -3'

Sequencing Primer
(F):5'- TTTCAGGCGGTGCTAAAGGAGATC -3'
(R):5'- GCACCTGCATGCCCAAG -3'

Posted On

2017-10-10