|Institutional Source||Beutler Lab|
|Gene Name||ribonuclease H2, subunit B|
|Synonyms||Dleu8, 1110019N06Rik, 2610207P08Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6360 (G1)|
|Chromosomal Location||62292589-62372992 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 62361419 bp|
|Amino Acid Change||Serine to Proline at position 198 (S198P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022499 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022499] [ENSMUST00000169728]|
mouse RNase H2 complex [X-RAY DIFFRACTION]
The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease [X-RAY DIFFRACTION]
|Predicted Effect||probably damaging
AA Change: S198P
PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: S198P
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit preweaning lethality associated with reduced cell proliferation and embryonic growth retardation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rnaseh2b||
(F):5'- GCTGACAAAGATAACTCTAGGTGC -3'
(R):5'- TGTTTGGTCACTATTAGGCCACG -3'
(F):5'- CTCTAGGTGCTTAAATATTTCCTGG -3'
(R):5'- TGGTCACTATTAGGCCACGAGTAG -3'