Incidental Mutation 'IGL02337:Tarbp2'
ID 288903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tarbp2
Ensembl Gene ENSMUSG00000023051
Gene Name TARBP2, RISC loading complex RNA binding subunit
Synonyms TRBP, Prbp
Accession Numbers
Essential gene? Possibly essential (E-score: 0.573) question?
Stock # IGL02337
Quality Score
Status
Chromosome 15
Chromosomal Location 102426627-102432111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 102430428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 148 (Q148K)
Ref Sequence ENSEMBL: ENSMUSP00000123339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023813] [ENSMUST00000023814] [ENSMUST00000100168] [ENSMUST00000131184] [ENSMUST00000146756] [ENSMUST00000142194] [ENSMUST00000142114] [ENSMUST00000149200] [ENSMUST00000150393] [ENSMUST00000169377] [ENSMUST00000169367] [ENSMUST00000229805] [ENSMUST00000184772] [ENSMUST00000184906]
AlphaFold P97473
Predicted Effect possibly damaging
Transcript: ENSMUST00000023813
AA Change: Q169K

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023813
Gene: ENSMUSG00000023051
AA Change: Q169K

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: ENSMUST00000023814
SMART Domains Protein: ENSMUSP00000023814
Gene: ENSMUSG00000023052

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:NPFF 24 114 3.1e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100168
AA Change: Q78K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097744
Gene: ENSMUSG00000023051
AA Change: Q78K

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 possibly damaging
Transcript: ENSMUST00000146756
AA Change: Q148K

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121748
Gene: ENSMUSG00000023051
AA Change: Q148K

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 damaging
Transcript: ENSMUST00000142194
AA Change: Q148K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123339
Gene: ENSMUSG00000023051
AA Change: Q148K

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 noncoding transcript
Transcript: ENSMUST00000153171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154451
Predicted Effect probably benign
Transcript: ENSMUST00000154948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184659
Predicted Effect probably benign
Transcript: ENSMUST00000142114
SMART Domains Protein: ENSMUSP00000114953
Gene: ENSMUSG00000023051

DomainStartEndE-ValueType
low complexity region 16 28 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149200
SMART Domains Protein: ENSMUSP00000123213
Gene: ENSMUSG00000023051

DomainStartEndE-ValueType
DSRM 10 56 1.45e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000150393
AA Change: Q70K
SMART Domains Protein: ENSMUSP00000120315
Gene: ENSMUSG00000023051
AA Change: Q70K

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 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
Predicted Effect probably benign
Transcript: ENSMUST00000169367
Predicted Effect probably damaging
Transcript: ENSMUST00000229805
AA Change: Q26K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000184772
SMART Domains Protein: ENSMUSP00000138975
Gene: ENSMUSG00000052414

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,247,662 (GRCm39) V403A probably benign Het
Afm A G 5: 90,695,770 (GRCm39) T426A probably benign Het
Atp8a2 T C 14: 60,235,451 (GRCm39) D697G probably benign Het
Barhl1 G T 2: 28,801,431 (GRCm39) S204R probably damaging Het
Ceacam11 T A 7: 17,707,550 (GRCm39) S111R probably benign Het
Cenpe A G 3: 134,926,037 (GRCm39) probably benign Het
Cnot11 G A 1: 39,583,964 (GRCm39) probably benign Het
Ctc1 A G 11: 68,916,957 (GRCm39) T284A probably damaging Het
Ephb3 A G 16: 21,040,253 (GRCm39) probably null Het
Fsip1 T A 2: 118,082,195 (GRCm39) K80* probably null Het
Gaa G T 11: 119,168,429 (GRCm39) G220C probably damaging Het
Gna15 T C 10: 81,350,244 (GRCm39) S53G probably damaging Het
Hfm1 A T 5: 107,052,133 (GRCm39) M321K possibly damaging Het
Hgfac C A 5: 35,199,722 (GRCm39) T68K probably benign Het
Hmgxb4 C T 8: 75,726,259 (GRCm39) R35W probably damaging Het
Itfg2 T C 6: 128,390,533 (GRCm39) D184G probably benign Het
Kirrel1 G A 3: 86,996,519 (GRCm39) T360I possibly damaging Het
Lrp1 T C 10: 127,412,756 (GRCm39) Q1240R possibly damaging Het
Lrrk1 G T 7: 65,929,164 (GRCm39) T1156N possibly damaging Het
Olfm1 A G 2: 28,119,697 (GRCm39) Y429C probably damaging Het
Or4k77 T G 2: 111,199,496 (GRCm39) V173G probably benign Het
Or5t5 T A 2: 86,616,518 (GRCm39) M148K probably damaging Het
Pafah1b2 C T 9: 45,884,287 (GRCm39) V122I probably benign Het
Pdcd1 T C 1: 93,968,582 (GRCm39) T151A probably benign Het
Pkd1l1 T C 11: 8,892,079 (GRCm39) S697G probably damaging Het
Rgs12 T A 5: 35,177,697 (GRCm39) F96I probably damaging Het
Sptbn4 T C 7: 27,127,672 (GRCm39) D176G probably benign Het
Txk T C 5: 72,864,889 (GRCm39) R329G possibly damaging Het
Unc79 T A 12: 103,122,705 (GRCm39) probably benign Het
Vmn1r73 C A 7: 11,490,640 (GRCm39) P153T possibly damaging Het
Zeb2 G A 2: 44,887,242 (GRCm39) T605I probably damaging Het
Zfp654 A G 16: 64,605,512 (GRCm39) S897P probably benign Het
Other mutations in Tarbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9188:Tarbp2 UTSW 15 102,430,946 (GRCm39) missense probably benign 0.31
Posted On 2015-04-16