Mutagenetix > Incidental Mutation

Incidental Mutation 'R9188:Tarbp2'

697549

Institutional Source

Beutler Lab

Gene Symbol

Tarbp2

Ensembl Gene

ENSMUSG00000023051

Gene Name

TARBP2, RISC loading complex RNA binding subunit

Synonyms

TRBP, Prbp

MMRRC Submission

068980-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.607) question?

Stock #

R9188 (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 102430946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 233 (D233G)

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: D233G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000023813
Gene: ENSMUSG00000023051
AA Change: D233G

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

possibly damaging
Transcript: ENSMUST00000100168
AA Change: D142G

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097744
Gene: ENSMUSG00000023051
AA Change: D142G

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: D212G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123339
Gene: ENSMUSG00000023051
AA Change: D212G

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: D212G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121748
Gene: ENSMUSG00000023051
AA Change: D212G

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: 99.8%
20x: 99.4%

Validation Efficiency

100% (71/71)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	G	T	6: 83,139,230 (GRCm39)	R385L	probably benign	Het
Abca8b	A	T	11: 109,872,561 (GRCm39)	C13*	probably null	Het
Actc1	T	C	2: 113,880,979 (GRCm39)	D82G	probably damaging	Het
Adamts1	G	A	16: 85,599,571 (GRCm39)	R10C	probably damaging	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Arhgap23	A	G	11: 97,390,983 (GRCm39)	I4V	possibly damaging	Het
Asic2	A	G	11: 81,042,738 (GRCm39)	F185S	probably benign	Het
Asmt	G	A	X: 169,111,583 (GRCm39)	E322K	probably damaging	Het
Caprin2	T	C	6: 148,767,422 (GRCm39)	D512G	probably benign	Het
Cltc	A	C	11: 86,627,992 (GRCm39)	I52S	probably damaging	Het
Cntn2	A	G	1: 132,443,276 (GRCm39)	L1040P	probably damaging	Het
Col12a1	T	C	9: 79,509,614 (GRCm39)	T3019A	probably benign	Het
Crisp4	A	T	1: 18,192,990 (GRCm39)	C242*	probably null	Het
Crocc	G	T	4: 140,747,151 (GRCm39)	N1716K	probably benign	Het
Cstf3	A	G	2: 104,439,223 (GRCm39)	E12G	possibly damaging	Het
Dnai4	T	C	4: 102,939,332 (GRCm39)	T77A		Het
Drc3	G	T	11: 60,249,615 (GRCm39)	V45F	probably damaging	Het
Etv4	A	G	11: 101,666,202 (GRCm39)	S108P	probably damaging	Het
Exosc10	T	A	4: 148,643,017 (GRCm39)	D31E	probably damaging	Het
F11	A	T	8: 45,698,736 (GRCm39)	D469E	probably benign	Het
Fzd7	A	G	1: 59,523,797 (GRCm39)	H560R	probably benign	Het
Gabrp	A	G	11: 33,517,252 (GRCm39)	I140T	possibly damaging	Het
Get1	A	G	16: 95,955,363 (GRCm39)	D140G	probably benign	Het
Gna15	T	C	10: 81,343,798 (GRCm39)	T288A	probably benign	Het
Gucy2c	T	C	6: 136,700,756 (GRCm39)	D586G	probably benign	Het
H2-D1	T	C	17: 35,484,778 (GRCm39)	V213A	probably damaging	Het
Hsd3b1	A	T	3: 98,760,216 (GRCm39)	D258E	probably damaging	Het
Ier3	G	T	17: 36,132,779 (GRCm39)	G57W	probably damaging	Het
Ifnlr1	T	A	4: 135,426,171 (GRCm39)	C85S	probably damaging	Het
Ivd	G	T	2: 118,710,942 (GRCm39)	G384C	probably damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Jak2	A	C	19: 29,288,353 (GRCm39)	D1068A	probably damaging	Het
Klk4	T	C	7: 43,534,797 (GRCm39)	I252T	probably damaging	Het
Klra17	A	T	6: 129,808,523 (GRCm39)	C237S	probably damaging	Het
Krtap1-3	T	C	11: 99,481,887 (GRCm39)	T87A	unknown	Het
Lbhd1	A	T	19: 8,864,397 (GRCm39)		probably null	Het
Lrig3	A	G	10: 125,838,935 (GRCm39)	R481G	possibly damaging	Het
Lrrc1	T	C	9: 77,362,487 (GRCm39)	Y247C	probably benign	Het
Marchf1	T	A	8: 66,908,803 (GRCm39)	Y174*	probably null	Het
Mlxip	A	T	5: 123,583,642 (GRCm39)	T402S	probably benign	Het
Mmd2	T	C	5: 142,560,957 (GRCm39)	K93E	probably damaging	Het
Mmp27	A	G	9: 7,579,792 (GRCm39)	D422G	possibly damaging	Het
Mroh7	T	C	4: 106,566,789 (GRCm39)	I487V	probably benign	Het
Nectin2	A	G	7: 19,453,119 (GRCm39)		probably null	Het
Nfkbia	A	T	12: 55,537,258 (GRCm39)	L277H	probably damaging	Het
Or4n5	T	C	14: 50,132,366 (GRCm39)	M298V	probably benign	Het
Or52r1	T	A	7: 102,536,596 (GRCm39)	I255F	possibly damaging	Het
Otof	C	T	5: 30,534,095 (GRCm39)	V1410M	probably damaging	Het
Pcdhb11	A	G	18: 37,556,188 (GRCm39)	N506S	probably damaging	Het
Pik3c2g	A	C	6: 139,599,401 (GRCm39)	E172D	possibly damaging	Het
Plch1	T	C	3: 63,639,075 (GRCm39)	D466G	probably null	Het
Plekha6	C	T	1: 133,220,171 (GRCm39)	R955W	probably damaging	Het
Ppm1d	T	A	11: 85,236,747 (GRCm39)	S509T	possibly damaging	Het
Prmt7	A	G	8: 106,961,486 (GRCm39)	D133G	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rfx6	A	G	10: 51,594,263 (GRCm39)	I394M	probably benign	Het
Rgl1	G	T	1: 152,394,922 (GRCm39)	N715K	probably damaging	Het
Rnf212	G	T	5: 108,922,811 (GRCm39)	S13*	probably null	Het
Rpgrip1l	T	C	8: 92,031,638 (GRCm39)	T80A	probably damaging	Het
Rsl1	G	T	13: 67,330,185 (GRCm39)	S211I	probably benign	Het
Serpinb9d	A	G	13: 33,386,843 (GRCm39)	M304V	probably damaging	Het
Sh3rf1	G	T	8: 61,814,807 (GRCm39)		probably null	Het
Snx16	C	A	3: 10,485,835 (GRCm39)	K261N	possibly damaging	Het
Srebf2	G	A	15: 82,066,357 (GRCm39)	R635Q	probably benign	Het
Styxl1	T	C	5: 135,794,672 (GRCm39)		probably null	Het
Tenm4	A	T	7: 96,421,234 (GRCm39)	N633Y	probably damaging	Het
Tgs1	T	C	4: 3,585,693 (GRCm39)	L190P	probably benign	Het
Tmem87a	C	T	2: 120,233,244 (GRCm39)	G55D	probably benign	Het
Ttn	A	T	2: 76,733,468 (GRCm39)	Y4602*	probably null	Het
Unc5b	A	T	10: 60,609,550 (GRCm39)	L582Q	probably damaging	Het
Wdpcp	A	G	11: 21,610,025 (GRCm39)	D31G	probably damaging	Het
Zbtb32	C	T	7: 30,291,320 (GRCm39)		probably benign	Het
Zfp936	C	T	7: 42,839,768 (GRCm39)	L412F	probably benign	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
R7203:Tarbp2	UTSW	15	102,430,922 (GRCm39)	missense	probably benign	0.22
R7478:Tarbp2	UTSW	15	102,430,169 (GRCm39)	missense	probably benign
R8737:Tarbp2	UTSW	15	102,430,202 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGAGCTCCTCTTTGCAGTG -3'
(R):5'- GACCCTACATATAGGCTGAGGG -3'

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

Posted On

2022-02-07