Incidental Mutation 'R1147:Trub2'
ID500202
Institutional Source Beutler Lab
Gene Symbol Trub2
Ensembl Gene ENSMUSG00000039826
Gene NameTruB pseudouridine (psi) synthase family member 2
Synonyms
MMRRC Submission 039220-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1147 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location29761224-29788502 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 29787632 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028137] [ENSMUST00000048044] [ENSMUST00000113807] [ENSMUST00000143616] [ENSMUST00000148791] [ENSMUST00000156846] [ENSMUST00000176312] [ENSMUST00000176348] [ENSMUST00000177133] [ENSMUST00000177467]
Predicted Effect probably benign
Transcript: ENSMUST00000028137
SMART Domains Protein: ENSMUSP00000028137
Gene: ENSMUSG00000026798

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:Coq4 39 259 1.2e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048044
SMART Domains Protein: ENSMUSP00000041848
Gene: ENSMUSG00000039826

DomainStartEndE-ValueType
Pfam:TruB_N 84 233 1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113803
Predicted Effect probably benign
Transcript: ENSMUST00000113807
SMART Domains Protein: ENSMUSP00000109438
Gene: ENSMUSG00000039826

DomainStartEndE-ValueType
Pfam:TruB_N 84 180 5.7e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142694
Predicted Effect probably benign
Transcript: ENSMUST00000143616
SMART Domains Protein: ENSMUSP00000120160
Gene: ENSMUSG00000026798

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:Coq4 39 135 2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148791
SMART Domains Protein: ENSMUSP00000116944
Gene: ENSMUSG00000026798

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:Coq4 39 200 6.9e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175644
Predicted Effect probably benign
Transcript: ENSMUST00000176312
Predicted Effect probably benign
Transcript: ENSMUST00000176348
SMART Domains Protein: ENSMUSP00000135687
Gene: ENSMUSG00000026798

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:Coq4 39 135 2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177133
Predicted Effect probably benign
Transcript: ENSMUST00000177467
SMART Domains Protein: ENSMUSP00000135521
Gene: ENSMUSG00000039826

DomainStartEndE-ValueType
Pfam:TruB_N 84 187 3.2e-16 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 97.7%
  • 10x: 89.5%
  • 20x: 66.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530032D15Rik C G 1: 85,099,505 K113N probably benign Het
Adam20 T C 8: 40,795,618 I255T possibly damaging Het
Aknad1 T A 3: 108,752,541 N290K possibly damaging Het
Als2cr12 A T 1: 58,669,463 Y215N probably damaging Het
Ano8 C A 8: 71,482,017 V447F probably damaging Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Ash1l A T 3: 88,984,887 M1358L possibly damaging Het
Ccdc110 A G 8: 45,944,084 K837E possibly damaging Het
Cd19 T A 7: 126,411,045 D384V possibly damaging Het
Ces1f C T 8: 93,258,281 V473I possibly damaging Het
Chd6 C T 2: 160,990,271 E994K probably damaging Het
Col5a2 G T 1: 45,376,771 N1405K probably damaging Het
Dnah7b A G 1: 46,340,266 D3720G probably damaging Het
Dsel T C 1: 111,862,209 T199A possibly damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Hrg G T 16: 22,961,004 C344F probably damaging Het
Htt T C 5: 34,851,252 Y1462H probably damaging Het
Kcnh2 T A 5: 24,324,387 I784F probably damaging Het
Kifc3 T C 8: 95,137,918 T55A probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Olfr434 A T 6: 43,217,212 T100S probably damaging Het
Olfr692 G A 7: 105,369,277 R308Q probably benign Het
Oog3 A G 4: 144,158,412 F318S possibly damaging Het
Pde5a C T 3: 122,794,313 T376M probably damaging Het
Pkhd1l1 A G 15: 44,537,441 I2204V probably null Het
Ppp1r13l A G 7: 19,375,847 D731G probably damaging Het
Ptk6 C T 2: 181,195,797 G443D probably benign Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Ptprs T C 17: 56,423,504 D749G probably damaging Het
Ralgapa1 A T 12: 55,702,480 D1212E probably damaging Het
Rsad1 T C 11: 94,544,140 Y290C probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Slc6a11 T A 6: 114,244,870 I507N possibly damaging Het
Sybu A T 15: 44,746,255 F78I probably damaging Het
Tox A T 4: 6,823,055 N87K possibly damaging Het
Trrap G A 5: 144,804,766 G1308R probably damaging Het
Vmn2r114 A T 17: 23,311,063 H123Q probably benign Het
Vmn2r15 T A 5: 109,293,206 Y262F probably damaging Het
Vmn2r33 C T 7: 7,554,145 E519K probably benign Het
Zfp106 A T 2: 120,520,536 C1545S probably damaging Het
Other mutations in Trub2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1147:Trub2 UTSW 2 29787632 unclassified probably benign
R1252:Trub2 UTSW 2 29782158 missense probably damaging 1.00
R1643:Trub2 UTSW 2 29777936 missense probably damaging 1.00
R1869:Trub2 UTSW 2 29777666 missense probably benign 0.00
R4694:Trub2 UTSW 2 29778846 missense probably damaging 0.99
R6983:Trub2 UTSW 2 29787784 unclassified probably benign
R7097:Trub2 UTSW 2 29779826 missense possibly damaging 0.55
R7386:Trub2 UTSW 2 29786595 missense probably benign 0.01
R7472:Trub2 UTSW 2 29783373 missense probably damaging 0.99
Predicted Primers
Posted On2017-12-01