Incidental Mutation 'R6459:Tarbp2'
ID 517532
Institutional Source Beutler Lab
Gene Symbol Tarbp2
Ensembl Gene ENSMUSG00000023051
Gene Name TARBP2, RISC loading complex RNA binding subunit
Synonyms TRBP, Prbp
MMRRC Submission 044594-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.573) question?
Stock # R6459 (G1)
Quality Score 131.008
Status Not validated
Chromosome 15
Chromosomal Location 102426627-102432111 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to G at 102426914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023812] [ENSMUST00000023813] [ENSMUST00000100168] [ENSMUST00000131184] [ENSMUST00000150393] [ENSMUST00000142194] [ENSMUST00000169367] [ENSMUST00000146756] [ENSMUST00000149200] [ENSMUST00000165174] [ENSMUST00000169162] [ENSMUST00000229805] [ENSMUST00000169377]
AlphaFold P97473
Predicted Effect probably benign
Transcript: ENSMUST00000023812
SMART Domains Protein: ENSMUSP00000023812
Gene: ENSMUSG00000023050

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000023813
Gene: ENSMUSG00000023051

DomainStartEndE-ValueType
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: ENSMUST00000100168
SMART Domains Protein: ENSMUSP00000097744
Gene: ENSMUSG00000023051

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
DSRM 31 77 1.45e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141266
Predicted Effect probably benign
Transcript: ENSMUST00000150393
SMART Domains Protein: ENSMUSP00000120315
Gene: ENSMUSG00000023051

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000164343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154451
Predicted Effect probably benign
Transcript: ENSMUST00000142194
SMART Domains Protein: ENSMUSP00000123339
Gene: ENSMUSG00000023051

DomainStartEndE-ValueType
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: ENSMUST00000169367
Predicted Effect probably benign
Transcript: ENSMUST00000146756
SMART Domains Protein: ENSMUSP00000121748
Gene: ENSMUSG00000023051

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
DSRM 10 56 1.45e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165174
Predicted Effect probably benign
Transcript: ENSMUST00000154948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153171
Predicted Effect probably benign
Transcript: ENSMUST00000169162
Predicted Effect probably benign
Transcript: ENSMUST00000229805
Predicted Effect probably benign
Transcript: ENSMUST00000169377
SMART Domains Protein: ENSMUSP00000133209
Gene: ENSMUSG00000023050

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 98% (52/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr C A 11: 76,315,815 (GRCm39) R583L probably damaging Het
Acss1 A G 2: 150,509,840 (GRCm39) I93T probably damaging Het
Ank3 C T 10: 69,827,577 (GRCm39) probably benign Het
Aoah A G 13: 21,184,112 (GRCm39) Y392C probably damaging Het
Atl3 A T 19: 7,498,163 (GRCm39) E186D probably benign Het
Atp4a A G 7: 30,411,887 (GRCm39) K41E probably benign Het
Atp9a G A 2: 168,509,933 (GRCm39) P500L probably damaging Het
Ccdc88b A T 19: 6,832,246 (GRCm39) V363D possibly damaging Het
Cftr T C 6: 18,258,235 (GRCm39) V532A probably damaging Het
Cldn13 T C 5: 134,943,769 (GRCm39) T139A possibly damaging Het
Cnksr3 T C 10: 7,076,820 (GRCm39) Y124C probably benign Het
Cyb5r2 T C 7: 107,352,462 (GRCm39) K161E possibly damaging Het
Epop T C 11: 97,519,333 (GRCm39) S259G possibly damaging Het
Fhl2 G A 1: 43,162,813 (GRCm39) T234I possibly damaging Het
Fnip2 T C 3: 79,388,941 (GRCm39) T567A possibly damaging Het
Frmd4b A G 6: 97,464,601 (GRCm39) C39R probably damaging Het
Grhl3 T C 4: 135,284,744 (GRCm39) N116S possibly damaging Het
Igkv14-111 A T 6: 68,233,725 (GRCm39) R75S probably benign Het
Il16 A T 7: 83,371,529 (GRCm39) D92E probably damaging Het
Il16 C A 7: 83,371,536 (GRCm39) G90V probably damaging Het
Ipo11 T C 13: 107,002,277 (GRCm39) probably null Het
Kng2 A G 16: 22,830,865 (GRCm39) I148T probably damaging Het
Lrrc41 T C 4: 115,945,977 (GRCm39) S231P possibly damaging Het
Maneal C T 4: 124,750,635 (GRCm39) V374I possibly damaging Het
Mgat4c T A 10: 102,220,988 (GRCm39) L90Q probably damaging Het
Mrps28 A G 3: 8,965,040 (GRCm39) probably null Het
Ncapd3 A G 9: 26,963,051 (GRCm39) D452G probably benign Het
Nefh T C 11: 4,889,551 (GRCm39) T1023A unknown Het
Nipa1 A G 7: 55,629,354 (GRCm39) V253A probably benign Het
Or5ac17 C T 16: 59,036,383 (GRCm39) V198M probably benign Het
Or5b97 G T 19: 12,878,369 (GRCm39) F258L possibly damaging Het
Or5m11 G T 2: 85,781,862 (GRCm39) G152C probably damaging Het
Or8d23 A G 9: 38,841,961 (GRCm39) S165G probably benign Het
Or8k41 T A 2: 86,313,573 (GRCm39) H171L probably benign Het
Pak1 A G 7: 97,557,088 (GRCm39) D495G probably benign Het
Pcm1 G A 8: 41,714,073 (GRCm39) R213H probably damaging Het
Prg4 T C 1: 150,330,052 (GRCm39) probably benign Het
Proser1 C T 3: 53,385,750 (GRCm39) T544M possibly damaging Het
Rftn1 T C 17: 50,354,334 (GRCm39) M343V probably benign Het
Ryr1 T C 7: 28,715,079 (GRCm39) I4656V probably benign Het
Scg2 T A 1: 79,414,007 (GRCm39) N239Y probably damaging Het
Sec16a C A 2: 26,313,512 (GRCm39) M1949I probably benign Het
Sipa1l2 A G 8: 126,171,223 (GRCm39) probably null Het
Slc10a2 A C 8: 5,148,581 (GRCm39) probably null Het
Slc25a16 C T 10: 62,773,256 (GRCm39) Q164* probably null Het
Specc1l T C 10: 75,082,001 (GRCm39) Y483H probably damaging Het
Ston1 T C 17: 88,943,896 (GRCm39) V434A probably benign Het
Trappc8 C T 18: 20,969,925 (GRCm39) V1022M probably benign Het
Tsen54 T C 11: 115,712,506 (GRCm39) V269A probably damaging Het
Vps13a A T 19: 16,641,382 (GRCm39) M78K possibly damaging Het
Vwa5b2 A G 16: 20,413,429 (GRCm39) T215A probably damaging Het
Zc3h7a A G 16: 10,971,025 (GRCm39) Y335H probably damaging Het
Zfp994 T A 17: 22,419,527 (GRCm39) Q474L possibly damaging Het
Other mutations in Tarbp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9188:Tarbp2 UTSW 15 102,430,946 (GRCm39) missense probably benign 0.31
Predicted Primers
Posted On 2018-05-21