Mutagenetix > Incidental Mutation

Incidental Mutation 'R7203:Tarbp2'

560823

Institutional Source

Beutler Lab

Gene Symbol

Tarbp2

Ensembl Gene

ENSMUSG00000023051

Gene Name

TARBP2, RISC loading complex RNA binding subunit

Synonyms

TRBP, Prbp

MMRRC Submission

045281-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.607) question?

Stock #

R7203 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102426627-102432111 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102430922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 225 (H225R)

Ref Sequence

ENSEMBL: ENSMUSP00000023813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023813] [ENSMUST00000023814] [ENSMUST00000100168] [ENSMUST00000131184] [ENSMUST00000142194] [ENSMUST00000146756] [ENSMUST00000149200] [ENSMUST00000150393] [ENSMUST00000184772] [ENSMUST00000184906] [ENSMUST00000229805]

AlphaFold

P97473

Predicted Effect

probably benign
Transcript: ENSMUST00000023813
AA Change: H225R

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023813
Gene: ENSMUSG00000023051
AA Change: H225R

Domain	Start	End	E-Value	Type
DSRM	31	96	6.65e-25	SMART
low complexity region	105	121	N/A	INTRINSIC
low complexity region	123	137	N/A	INTRINSIC
DSRM	159	225	9.21e-19	SMART
DSRM	293	359	9.35e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000023814

SMART Domains

Protein: ENSMUSP00000023814
Gene: ENSMUSG00000023052

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:NPFF	24	114	3.1e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100168
AA Change: H134R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097744
Gene: ENSMUSG00000023051
AA Change: H134R

Domain	Start	End	E-Value	Type
low complexity region	16	28	N/A	INTRINSIC
low complexity region	32	46	N/A	INTRINSIC
DSRM	68	134	9.21e-19	SMART
DSRM	202	268	9.35e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131184

SMART Domains

Protein: ENSMUSP00000117964
Gene: ENSMUSG00000023051

Domain	Start	End	E-Value	Type
DSRM	31	77	1.45e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142194
AA Change: H204R

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123339
Gene: ENSMUSG00000023051
AA Change: H204R

Domain	Start	End	E-Value	Type
DSRM	10	75	6.65e-25	SMART
low complexity region	84	100	N/A	INTRINSIC
low complexity region	102	116	N/A	INTRINSIC
DSRM	138	204	9.21e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146756
AA Change: H204R

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121748
Gene: ENSMUSG00000023051
AA Change: H204R

Domain	Start	End	E-Value	Type
DSRM	10	75	6.65e-25	SMART
low complexity region	84	100	N/A	INTRINSIC
low complexity region	102	116	N/A	INTRINSIC
DSRM	138	204	9.21e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149200

SMART Domains

Protein: ENSMUSP00000123213
Gene: ENSMUSG00000023051

Domain	Start	End	E-Value	Type
DSRM	10	56	1.45e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150393

SMART Domains

Protein: ENSMUSP00000120315
Gene: ENSMUSG00000023051

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	24	38	N/A	INTRINSIC
PDB:2CPN\|A	50	89	1e-22	PDB
Blast:DSRM	60	89	2e-14	BLAST
SCOP:d1di2a_	60	89	2e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154948

Predicted Effect

probably benign
Transcript: ENSMUST00000184772

SMART Domains

Protein: ENSMUSP00000138975
Gene: ENSMUSG00000052414

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	6.32e-3	SMART
low complexity region	108	130	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
low complexity region	300	318	N/A	INTRINSIC
low complexity region	319	326	N/A	INTRINSIC
BRLZ	330	394	3.46e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184906

SMART Domains

Protein: ENSMUSP00000139243
Gene: ENSMUSG00000099083

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	6.32e-3	SMART
low complexity region	108	130	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
low complexity region	300	318	N/A	INTRINSIC
low complexity region	319	326	N/A	INTRINSIC
BRLZ	330	394	3.46e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229805

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (108/108)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene binds between the bulge and the loop of the HIV-1 TAR RNA regulatory element and activates HIV-1 gene expression in synergy with the viral Tat protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene also has a pseudogene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in lethality at weaning, decreased body weight, and male infertility associated with oligozoospermia and failure of spermiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,930,317 (GRCm39)	V184A	probably benign	Het
Aars2	A	G	17: 45,827,497 (GRCm39)	Y513C	probably damaging	Het
Ackr2	G	A	9: 121,738,033 (GRCm39)	C136Y	probably damaging	Het
Aldh1l1	A	G	6: 90,547,782 (GRCm39)	K414R	probably benign	Het
Arl9	A	G	5: 77,155,118 (GRCm39)	Y83C	possibly damaging	Het
Atp10a	G	T	7: 58,436,221 (GRCm39)	R337L	probably benign	Het
Atp6v1g3	A	T	1: 138,215,538 (GRCm39)	Q66L	probably damaging	Het
Atp7b	A	T	8: 22,487,351 (GRCm39)	N1321K	probably damaging	Het
Axdnd1	A	T	1: 156,209,959 (GRCm39)	M437K	probably damaging	Het
Bap1	C	A	14: 30,976,126 (GRCm39)	P147Q	probably damaging	Het
Bicd1	C	T	6: 149,414,403 (GRCm39)	T372I	possibly damaging	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Btrc	A	G	19: 45,501,967 (GRCm39)		probably null	Het
C130050O18Rik	A	C	5: 139,400,129 (GRCm39)	I61L	probably benign	Het
Cfap161	A	G	7: 83,425,258 (GRCm39)	S278P	probably damaging	Het
Cgnl1	T	C	9: 71,631,815 (GRCm39)	D512G	possibly damaging	Het
Chat	T	C	14: 32,141,014 (GRCm39)	D461G	probably damaging	Het
Chl1	T	A	6: 103,668,635 (GRCm39)	V456D	probably benign	Het
Cib1	T	C	7: 79,882,120 (GRCm39)	T20A	possibly damaging	Het
Cubn	T	G	2: 13,355,814 (GRCm39)	H1806P	probably benign	Het
Dapk1	T	A	13: 60,844,149 (GRCm39)	V56E	possibly damaging	Het
Dennd4a	A	G	9: 64,803,756 (GRCm39)	N1032D	probably benign	Het
Dlg5	T	A	14: 24,188,723 (GRCm39)	E1756V	probably damaging	Het
Dnah1	T	C	14: 30,996,339 (GRCm39)	T2666A	probably benign	Het
Dnah11	A	T	12: 118,009,257 (GRCm39)	I2135N	possibly damaging	Het
Dnah6	T	A	6: 73,150,528 (GRCm39)	E745V	probably benign	Het
Dock8	A	T	19: 25,158,927 (GRCm39)	N1695I	probably damaging	Het
Esf1	C	T	2: 140,006,139 (GRCm39)	R336Q	possibly damaging	Het
Fam161a	A	G	11: 22,971,664 (GRCm39)		probably null	Het
Fam89a	T	C	8: 125,478,418 (GRCm39)	E44G	possibly damaging	Het
Fndc3b	A	T	3: 27,510,634 (GRCm39)	D829E	probably benign	Het
Fxr1	C	T	3: 34,100,689 (GRCm39)	T125I	possibly damaging	Het
Gfer	T	C	17: 24,914,836 (GRCm39)	D69G	probably damaging	Het
Gpatch2l	T	A	12: 86,335,711 (GRCm39)	S471T	probably benign	Het
Grm7	T	G	6: 111,335,530 (GRCm39)	I647S	possibly damaging	Het
Gsn	A	G	2: 35,188,807 (GRCm39)	I447V	probably benign	Het
H2al2c	C	T	Y: 2,599,234 (GRCm39)	L46F	possibly damaging	Het
Hao2	A	C	3: 98,784,598 (GRCm39)		probably null	Het
Ifitm10	T	C	7: 141,882,305 (GRCm39)	E155G	probably benign	Het
Igkv8-16	C	A	6: 70,363,794 (GRCm39)	W76L	probably benign	Het
Igsf21	A	T	4: 139,834,648 (GRCm39)	F75I	possibly damaging	Het
Ints14	T	A	9: 64,871,701 (GRCm39)	M13K	probably damaging	Het
Ipmk	A	T	10: 71,199,298 (GRCm39)	D53V	possibly damaging	Het
Iqcn	A	T	8: 71,169,597 (GRCm39)	E1229V	probably benign	Het
Itga8	A	G	2: 12,234,906 (GRCm39)	F451L	possibly damaging	Het
Jup	A	G	11: 100,272,560 (GRCm39)	F284S	probably damaging	Het
Kctd5	T	C	17: 24,292,209 (GRCm39)	D65G	probably benign	Het
Klrc1	A	T	6: 129,654,184 (GRCm39)	S148T	probably benign	Het
Kmt5b	A	G	19: 3,864,147 (GRCm39)	K404E	probably damaging	Het
Krt9	A	C	11: 100,081,617 (GRCm39)	M304R	probably damaging	Het
Krtap5-1	A	T	7: 141,850,299 (GRCm39)	S143T	unknown	Het
Kyat3	A	G	3: 142,426,162 (GRCm39)	N68D	probably damaging	Het
Kynu	A	G	2: 43,571,365 (GRCm39)	D427G	probably damaging	Het
Leo1	A	G	9: 75,353,278 (GRCm39)		probably null	Het
Loxhd1	A	G	18: 77,501,892 (GRCm39)	D1737G	probably damaging	Het
Lpo	C	A	11: 87,700,077 (GRCm39)	L521F	possibly damaging	Het
Lrrk1	A	G	7: 65,920,573 (GRCm39)	S1477P	probably damaging	Het
Lrrtm1	C	A	6: 77,220,584 (GRCm39)	L14M	probably damaging	Het
Ly75	G	A	2: 60,154,196 (GRCm39)	R1084*	probably null	Het
Mcf2l	A	G	8: 13,060,456 (GRCm39)	D764G	probably benign	Het
Mmut	A	T	17: 41,249,564 (GRCm39)	M180L	probably benign	Het
Mrgprd	A	T	7: 144,876,086 (GRCm39)	D319V	probably benign	Het
Myom3	T	C	4: 135,522,490 (GRCm39)	L897P	possibly damaging	Het
Ncapd2	A	T	6: 125,161,291 (GRCm39)	M247K	possibly damaging	Het
Nlrp2	T	C	7: 5,320,533 (GRCm39)	D868G	probably damaging	Het
Npy6r	A	G	18: 44,408,999 (GRCm39)	N140S	probably damaging	Het
Nsmce4a	T	C	7: 130,141,602 (GRCm39)	K196E	probably benign	Het
Nup88	T	C	11: 70,836,080 (GRCm39)	K532R	probably benign	Het
Or6k4	T	A	1: 173,964,680 (GRCm39)	Y123*	probably null	Het
Or8d6	T	A	9: 39,853,805 (GRCm39)	V83E	probably benign	Het
Or8g29-ps1	A	T	9: 39,200,589 (GRCm39)	I199N	unknown	Het
Pbxip1	A	T	3: 89,354,735 (GRCm39)	D418V	possibly damaging	Het
Pde2a	C	A	7: 101,159,151 (GRCm39)	R761S	possibly damaging	Het
Phf10	A	T	17: 15,166,575 (GRCm39)	C432S	probably damaging	Het
Pitpnm2	T	C	5: 124,259,522 (GRCm39)	D1271G	probably damaging	Het
Plin1	A	T	7: 79,373,192 (GRCm39)	L259Q	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pou6f2	T	A	13: 18,414,379 (GRCm39)	Q132L	unknown	Het
Ppa2	A	T	3: 133,036,199 (GRCm39)	N118Y	possibly damaging	Het
Prickle2	T	C	6: 92,387,959 (GRCm39)	E537G	possibly damaging	Het
Prl3d1	A	G	13: 27,282,684 (GRCm39)	I141V	possibly damaging	Het
Prl8a1	A	T	13: 27,758,172 (GRCm39)	V179D	probably damaging	Het
Prr14l	A	G	5: 32,984,489 (GRCm39)	F1669L	probably benign	Het
Prrg4	T	A	2: 104,669,787 (GRCm39)	E110V	possibly damaging	Het
Rfx5	C	A	3: 94,866,187 (GRCm39)	H495Q	unknown	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rpe65	A	G	3: 159,328,491 (GRCm39)	Y433C	probably damaging	Het
Rpl35rt	A	T	1: 156,193,657 (GRCm39)	I4F	probably damaging	Het
Rtn4rl1	C	T	11: 75,156,576 (GRCm39)	S336F	possibly damaging	Het
Scn2a	A	G	2: 65,578,663 (GRCm39)	D1446G	probably benign	Het
Sdk1	C	A	5: 142,031,931 (GRCm39)	T1002K	probably benign	Het
Slc9b2	T	C	3: 135,036,422 (GRCm39)	S409P	probably benign	Het
Sowahc	A	G	10: 59,058,100 (GRCm39)	T79A	probably benign	Het
Spata31h1	G	A	10: 82,129,248 (GRCm39)	T1254I	probably benign	Het
Stk35	T	A	2: 129,643,513 (GRCm39)	C166S	probably benign	Het
Tdrd12	T	A	7: 35,188,648 (GRCm39)	K530*	probably null	Het
Terf2ip	A	G	8: 112,744,618 (GRCm39)	I312V	probably benign	Het
Tgfb1	T	C	7: 25,391,964 (GRCm39)		probably null	Het
Thbs2	T	C	17: 14,891,720 (GRCm39)	D939G	probably damaging	Het
Ube4b	A	T	4: 149,483,067 (GRCm39)	I67K	probably benign	Het
Ubn1	G	T	16: 4,895,080 (GRCm39)	V709F	possibly damaging	Het
Ugt2b5	T	C	5: 87,276,258 (GRCm39)	K339E	possibly damaging	Het
Vax2	T	C	6: 83,714,882 (GRCm39)	S266P	probably damaging	Het
Vmn2r108	A	G	17: 20,683,038 (GRCm39)	I722T	probably benign	Het
Vmn2r95	A	G	17: 18,661,577 (GRCm39)	K441R	probably benign	Het
Wapl	C	A	14: 34,458,648 (GRCm39)	D903E	probably benign	Het
Wee1	T	A	7: 109,734,001 (GRCm39)	V442D	probably benign	Het
Zan	T	C	5: 137,432,358 (GRCm39)	N2313S	unknown	Het

Other mutations in Tarbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02337:Tarbp2	APN	15	102,430,428 (GRCm39)	missense	probably damaging	1.00
R2518:Tarbp2	UTSW	15	102,426,992 (GRCm39)	missense	possibly damaging	0.86
R6459:Tarbp2	UTSW	15	102,426,914 (GRCm39)	start gained	probably benign
R7478:Tarbp2	UTSW	15	102,430,169 (GRCm39)	missense	probably benign
R8737:Tarbp2	UTSW	15	102,430,202 (GRCm39)	missense	probably benign	0.00
R9188:Tarbp2	UTSW	15	102,430,946 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TGAGCTCCTCTTTGCAGTGG -3'
(R):5'- TGACCCTACATATAGGCTGAGGG -3'

Sequencing Primer
(F):5'- CAGTGGTATCTCATTGGGTGAC -3'
(R):5'- CCTACATATAGGCTGAGGGGACTTC -3'

Posted On

2019-06-26