Mutagenetix > Incidental Mutation

Incidental Mutation 'R8737:Tarbp2'

663114

Institutional Source

Beutler Lab

Gene Symbol

Tarbp2

Ensembl Gene

ENSMUSG00000023051

Gene Name

TARBP2, RISC loading complex RNA binding subunit

Synonyms

TRBP, Prbp

MMRRC Submission

068584-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.573) question?

Stock #

R8737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102426627-102432111 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102430202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 155 (S155T)

Ref Sequence

ENSEMBL: ENSMUSP00000023813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023812] [ENSMUST00000023813] [ENSMUST00000023814] [ENSMUST00000100168] [ENSMUST00000131184] [ENSMUST00000142194] [ENSMUST00000146756] [ENSMUST00000149200] [ENSMUST00000150393] [ENSMUST00000165174] [ENSMUST00000169162] [ENSMUST00000169367] [ENSMUST00000169377] [ENSMUST00000184772] [ENSMUST00000184906] [ENSMUST00000229805]

AlphaFold

P97473

Predicted Effect

probably benign
Transcript: ENSMUST00000023812

SMART Domains

Protein: ENSMUSP00000023812
Gene: ENSMUSG00000023050

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
Pfam:Pkinase	158	397	3.3e-59	PFAM
Pfam:Pkinase_Tyr	159	397	2.7e-62	PFAM
coiled coil region	447	501	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	599	617	N/A	INTRINSIC
low complexity region	640	663	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
low complexity region	691	727	N/A	INTRINSIC
low complexity region	751	764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000023813
AA Change: S155T

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

SMART Domains

Protein: ENSMUSP00000023813
Gene: ENSMUSG00000023051
AA Change: S155T

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 benign
Transcript: ENSMUST00000100168
AA Change: S64T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097744
Gene: ENSMUSG00000023051
AA Change: S64T

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: S134T

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

SMART Domains

Protein: ENSMUSP00000123339
Gene: ENSMUSG00000023051
AA Change: S134T

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: S134T

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

SMART Domains

Protein: ENSMUSP00000121748
Gene: ENSMUSG00000023051
AA Change: S134T

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
AA Change: S56T

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

SMART Domains

Protein: ENSMUSP00000120315
Gene: ENSMUSG00000023051
AA Change: S56T

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: ENSMUST00000165174

Predicted Effect

probably benign
Transcript: ENSMUST00000169162

Predicted Effect

probably benign
Transcript: ENSMUST00000169367

Predicted Effect

probably benign
Transcript: ENSMUST00000169377

SMART Domains

Protein: ENSMUSP00000133209
Gene: ENSMUSG00000023050

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
Pfam:Pkinase	159	397	1.2e-58	PFAM
Pfam:Pkinase_Tyr	160	397	3.7e-62	PFAM
coiled coil region	447	501	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	599	617	N/A	INTRINSIC
low complexity region	640	663	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
low complexity region	691	727	N/A	INTRINSIC
low complexity region	751	764	N/A	INTRINSIC

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
AA Change: S12T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,308,810 (GRCm39)	D375V	probably damaging	Het
Agfg1	C	G	1: 82,871,243 (GRCm39)	P492A	probably benign	Het
Asb13	T	C	13: 3,692,089 (GRCm39)	V23A	probably damaging	Het
Atxn1l	A	T	8: 110,460,230 (GRCm39)	C11S	probably damaging	Het
Bbs9	T	G	9: 22,590,244 (GRCm39)	S661A	probably benign	Het
Btrc	T	C	19: 45,496,198 (GRCm39)	V211A	probably damaging	Het
Camk1g	T	C	1: 193,030,794 (GRCm39)		probably null	Het
Capn11	A	T	17: 45,943,801 (GRCm39)	L578I	probably benign	Het
Cd82	A	T	2: 93,252,239 (GRCm39)	I124N	probably damaging	Het
Cdkl4	G	T	17: 80,858,258 (GRCm39)	H120Q	probably benign	Het
Cftr	T	C	6: 18,319,728 (GRCm39)	V1393A	probably damaging	Het
Col14a1	A	T	15: 55,318,706 (GRCm39)	R1402*	probably null	Het
Col6a3	T	G	1: 90,727,747 (GRCm39)	Y1960S	probably benign	Het
Col9a1	A	T	1: 24,224,127 (GRCm39)	Y103F	unknown	Het
Cux1	A	G	5: 136,311,796 (GRCm39)	V1180A	probably damaging	Het
Cyp17a1	A	T	19: 46,658,166 (GRCm39)	C249S	probably benign	Het
Derl1	A	T	15: 57,755,568 (GRCm39)	W42R	probably benign	Het
Dhx36	C	A	3: 62,386,747 (GRCm39)	M668I	probably benign	Het
Dnah6	T	C	6: 73,044,428 (GRCm39)	K3228E	possibly damaging	Het
Dst	C	T	1: 34,267,750 (GRCm39)	A3050V	probably benign	Het
Efr3b	A	G	12: 4,049,594 (GRCm39)	Y70H	probably damaging	Het
Epb42	T	A	2: 120,856,324 (GRCm39)	T407S	possibly damaging	Het
Fads2b	T	A	2: 85,324,387 (GRCm39)		probably benign	Het
Fap	T	A	2: 62,342,777 (GRCm39)	I608L	probably benign	Het
Fblim1	A	G	4: 141,310,387 (GRCm39)	Y292H	probably benign	Het
Fmod	A	G	1: 133,968,043 (GRCm39)	I28V	probably benign	Het
Gad2	T	A	2: 22,524,985 (GRCm39)	Y256*	probably null	Het
Gapdh	G	A	6: 125,139,017 (GRCm39)	A353V	probably benign	Het
Gm5460	T	G	14: 33,739,149 (GRCm39)	W44G	unknown	Het
Ino80e	A	T	7: 126,460,974 (GRCm39)	V91D	probably benign	Het
Iqgap2	G	A	13: 95,802,258 (GRCm39)	P896S	probably damaging	Het
Kif26b	T	A	1: 178,692,430 (GRCm39)	I457N	probably damaging	Het
Klc2	T	A	19: 5,168,477 (GRCm39)		probably benign	Het
Ldlrap1	C	A	4: 134,495,147 (GRCm39)	W22L	probably benign	Het
Matn3	A	G	12: 9,017,665 (GRCm39)	D439G	possibly damaging	Het
Met	T	C	6: 17,540,510 (GRCm39)	L812P	probably benign	Het
Mki67	A	T	7: 135,315,504 (GRCm39)	I90N	probably damaging	Het
Mptx2	A	C	1: 173,105,256 (GRCm39)	S12A	probably benign	Het
Mrgpra9	G	T	7: 46,885,624 (GRCm39)	N14K	probably benign	Het
Nbeal2	G	A	9: 110,456,949 (GRCm39)	R2350C	probably damaging	Het
Nsmaf	A	G	4: 6,396,748 (GRCm39)	I913T	probably benign	Het
Nuggc	G	T	14: 65,882,535 (GRCm39)	C760F	probably benign	Het
Or10a3m	T	A	7: 108,312,964 (GRCm39)	F135I	probably damaging	Het
Or1j13	T	A	2: 36,369,629 (GRCm39)	N171I	probably benign	Het
Or2y1f	T	A	11: 49,184,965 (GRCm39)	F272L	probably damaging	Het
Or4c110	C	A	2: 88,832,351 (GRCm39)	E94*	probably null	Het
Or51b6	A	G	7: 103,555,913 (GRCm39)	N86S		Het
Pdgfrb	C	T	18: 61,214,073 (GRCm39)	P953S	probably damaging	Het
Pemt	T	G	11: 59,874,285 (GRCm39)	I102L	probably benign	Het
Pla2g4c	G	T	7: 13,069,154 (GRCm39)	M109I	probably benign	Het
Pla2g4d	T	A	2: 120,100,466 (GRCm39)	Y622F	probably damaging	Het
Pmpca	T	A	2: 26,283,531 (GRCm39)	V400D	probably damaging	Het
Pnpt1	G	C	11: 29,104,815 (GRCm39)		probably null	Het
Pramel29	A	C	4: 143,935,192 (GRCm39)	L183R	probably damaging	Het
Prrc1	T	A	18: 57,496,408 (GRCm39)	S120T	possibly damaging	Het
Prrx2	T	G	2: 30,768,578 (GRCm39)	V135G	probably damaging	Het
Qrfprl	A	G	6: 65,433,260 (GRCm39)	K360R	probably benign	Het
Recql4	T	C	15: 76,593,054 (GRCm39)	N352S	probably benign	Het
Sftpa1	T	C	14: 40,856,044 (GRCm39)	S130P	probably damaging	Het
Slc35e2	T	C	4: 155,695,042 (GRCm39)	L136P	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tmem116	A	T	5: 121,620,433 (GRCm39)	Y146F		Het
Ttc17	C	T	2: 94,206,374 (GRCm39)		probably null	Het
Vmn2r114	G	A	17: 23,529,142 (GRCm39)	T320I	probably benign	Het
Vmn2r69	A	T	7: 85,055,783 (GRCm39)	V785D	probably damaging	Het
Vmn2r89	T	A	14: 51,693,722 (GRCm39)	N357K	probably damaging	Het
Zfp811	A	T	17: 33,017,197 (GRCm39)	L281Q	possibly damaging	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
R9188:Tarbp2	UTSW	15	102,430,946 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GAAGTAGCAGAGCCTCACTTGG -3'
(R):5'- GGAAAGGGTCCTTAGCCAATGG -3'

Sequencing Primer
(F):5'- AAGGCTAGATGTTTGGACAGATAGC -3'
(R):5'- TGGCCTTCTACCAAGAGCC -3'

Posted On

2021-03-08