Incidental Mutation 'R7789:Trub2'
ID 599710
Institutional Source Beutler Lab
Gene Symbol Trub2
Ensembl Gene ENSMUSG00000039826
Gene Name TruB pseudouridine (psi) synthase family member 2
Synonyms
MMRRC Submission 045845-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7789 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 29761224-29788502 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29777908 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 240 (H240L)
Ref Sequence ENSEMBL: ENSMUSP00000041848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048044] [ENSMUST00000113807] [ENSMUST00000156846] [ENSMUST00000176312] [ENSMUST00000177133] [ENSMUST00000177467]
AlphaFold Q91WG3
Predicted Effect probably damaging
Transcript: ENSMUST00000048044
AA Change: H240L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041848
Gene: ENSMUSG00000039826
AA Change: H240L

DomainStartEndE-ValueType
Pfam:TruB_N 84 233 1e-27 PFAM
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 probably benign
Transcript: ENSMUST00000156846
Predicted Effect probably benign
Transcript: ENSMUST00000176312
Predicted Effect probably benign
Transcript: ENSMUST00000177133
Predicted Effect silent
Transcript: ENSMUST00000177467
SMART Domains Protein: ENSMUSP00000135521
Gene: ENSMUSG00000039826

DomainStartEndE-ValueType
Pfam:TruB_N 84 187 3.2e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (77/78)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,864,311 E163K probably benign Het
Adam34 T A 8: 43,652,451 R52S probably benign Het
Adcy8 A T 15: 64,871,774 C328* probably null Het
Ankrd26 G T 6: 118,527,798 H717N probably damaging Het
Ankrd26 G T 6: 118,527,799 S716R possibly damaging Het
Ankrd40 C A 11: 94,334,709 P189T probably damaging Het
Anln A G 9: 22,352,037 S113P Het
Arid5b C T 10: 68,098,587 G495E probably benign Het
Asxl1 C T 2: 153,400,023 T832I probably benign Het
Bicd2 C T 13: 49,379,659 R574C probably damaging Het
Boll T C 1: 55,360,667 probably null Het
Casr A G 16: 36,495,291 F806L probably damaging Het
Casz1 C A 4: 148,929,406 N142K probably benign Het
Cbl C T 9: 44,163,467 D433N probably damaging Het
Ceacam14 T A 7: 17,814,171 V62D probably damaging Het
Chst10 T C 1: 38,884,451 N18S probably benign Het
Cyp2j6 C T 4: 96,545,716 R119H probably benign Het
Cyp4a14 C G 4: 115,494,910 V102L probably benign Het
Dnajb3 A T 1: 88,205,677 M1K probably null Het
Dnajc6 A T 4: 101,618,532 K534M possibly damaging Het
Dnase2a T C 8: 84,908,876 probably null Het
Dock10 A G 1: 80,559,213 I985T possibly damaging Het
Emsy G T 7: 98,621,489 P436Q probably damaging Het
Enpp1 A T 10: 24,654,083 probably null Het
Erc1 T A 6: 119,773,709 R353* probably null Het
Fam196b T A 11: 34,402,537 M193K probably benign Het
Fbn2 T A 18: 58,039,313 D2140V probably benign Het
Fgfr1 T A 8: 25,562,313 Y218* probably null Het
Fhod1 C T 8: 105,330,108 R1045H probably damaging Het
Focad G T 4: 88,229,406 L427F unknown Het
Gbf1 T A 19: 46,254,002 L144M probably damaging Het
Glmn T G 5: 107,549,075 N592T probably benign Het
Golgb1 C G 16: 36,875,399 P87A unknown Het
H2bfm G A X: 136,927,722 R120K unknown Het
Itga9 T G 9: 118,658,496 F216V possibly damaging Het
Klhl18 T C 9: 110,439,008 D149G unknown Het
Lcat C T 8: 105,942,225 V114M probably benign Het
Lrrc8c C A 5: 105,607,200 N280K probably damaging Het
Mettl8 T C 2: 70,966,462 Y283C probably damaging Het
Mgat4a A T 1: 37,490,279 I173K probably damaging Het
Mmp1a T C 9: 7,475,265 V345A possibly damaging Het
Mok T A 12: 110,811,827 H215L probably damaging Het
Mphosph9 C G 5: 124,315,587 E221Q probably damaging Het
Muc4 C G 16: 32,753,930 Q1269E probably benign Het
Mug1 C A 6: 121,861,220 H470N possibly damaging Het
Myom1 A G 17: 71,117,436 T1525A probably benign Het
Nap1l1 C T 10: 111,490,456 S143L probably benign Het
Olfr366 C T 2: 37,219,660 T57I probably benign Het
Olfr531 A T 7: 140,400,697 Y116* probably null Het
Olfr646 T A 7: 104,106,988 S236R probably damaging Het
Olfr847 G T 9: 19,375,065 T272K probably benign Het
Plbd2 T C 5: 120,485,754 S568G probably damaging Het
Plxna4 T A 6: 32,206,233 probably null Het
Plxnc1 T A 10: 94,794,477 E1520V probably damaging Het
Ppil3 G A 1: 58,434,379 T104I possibly damaging Het
Ptprm A T 17: 67,095,539 V118E probably damaging Het
Rimbp2 T C 5: 128,774,335 D849G probably damaging Het
Rnf213 T C 11: 119,470,219 probably null Het
Sema3f T A 9: 107,705,432 K37N probably benign Het
Sh3glb1 G T 3: 144,692,131 probably null Het
Sh3rf3 A G 10: 59,086,815 D571G probably benign Het
Sipa1l3 T C 7: 29,377,725 Y874C probably damaging Het
Smchd1 G A 17: 71,475,301 probably benign Het
Snrnp70 A T 7: 45,376,621 Y441* probably null Het
Ssrp1 C T 2: 85,041,181 R316W probably damaging Het
Syt10 A T 15: 89,826,898 V144E probably damaging Het
Tdrd12 A G 7: 35,488,692 L562P Het
Trim68 T C 7: 102,684,469 D2G possibly damaging Het
Tssc4 A G 7: 143,069,778 probably null Het
Usp7 T A 16: 8,698,811 Q539L probably benign Het
Vmn2r17 T A 5: 109,452,965 C710S possibly damaging Het
Vmn2r99 G T 17: 19,393,817 V600F possibly damaging Het
Vps13d C T 4: 145,100,065 V2879M Het
Vrtn T A 12: 84,650,306 M610K probably benign Het
Xpo4 T C 14: 57,613,349 E366G probably benign Het
Zyg11a G A 4: 108,183,648 P703S probably damaging Het
Other mutations in Trub2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1147:Trub2 UTSW 2 29787632 unclassified probably benign
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
R7773:Trub2 UTSW 2 29786508 missense probably benign 0.01
R8066:Trub2 UTSW 2 29777855 missense possibly damaging 0.93
R8117:Trub2 UTSW 2 29778727 splice site probably null
R8261:Trub2 UTSW 2 29777713 missense probably benign
R9015:Trub2 UTSW 2 29778264 intron probably benign
R9618:Trub2 UTSW 2 29783334 missense probably benign 0.33
R9655:Trub2 UTSW 2 29779821 critical splice donor site probably null
Z1177:Trub2 UTSW 2 29777761 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAGTTCTTTTGCAGTTCCGC -3'
(R):5'- TGAGTGATGCTGCCAGAAG -3'

Sequencing Primer
(F):5'- AGTTCCGCTGCCACCCG -3'
(R):5'- GAAGCCCAGCCTTTTTACAGC -3'
Posted On 2019-11-26