Incidental Mutation 'R2304:Rnaseh2b'
ID 244538
Institutional Source Beutler Lab
Gene Symbol Rnaseh2b
Ensembl Gene ENSMUSG00000021932
Gene Name ribonuclease H2, subunit B
Synonyms 2610207P08Rik, 1110019N06Rik, Dleu8
MMRRC Submission 040303-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2304 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 62569517-62610445 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62598838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 188 (S188P)
Ref Sequence ENSEMBL: ENSMUSP00000022499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022499] [ENSMUST00000169728]
AlphaFold Q80ZV0
PDB Structure 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
Transcript: ENSMUST00000022499
AA Change: S188P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022499
Gene: ENSMUSG00000021932
AA Change: S188P

DomainStartEndE-ValueType
Pfam:RNase_H2-Ydr279 14 298 6.8e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169728
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype 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
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T A 5: 8,142,366 (GRCm39) R806S probably damaging Het
Ccdc187 T C 2: 26,171,029 (GRCm39) K483R possibly damaging Het
Dcdc5 T A 2: 106,166,488 (GRCm39) noncoding transcript Het
Dvl1 C T 4: 155,940,041 (GRCm39) S391F probably damaging Het
Erg28 A G 12: 85,862,937 (GRCm39) L125P probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm5449 G T 13: 53,679,899 (GRCm39) noncoding transcript Het
Grid2ip T C 5: 143,373,595 (GRCm39) Y796H probably damaging Het
Mcrip1 A T 11: 120,435,519 (GRCm39) F39I probably damaging Het
Or5w12 T A 2: 87,502,238 (GRCm39) I158L probably benign Het
Prss53 T C 7: 127,487,479 (GRCm39) N291D probably benign Het
Ptpru A T 4: 131,499,879 (GRCm39) V1255D probably damaging Het
Rbl1 T C 2: 156,989,551 (GRCm39) T1023A probably benign Het
Sh2d6 T C 6: 72,497,542 (GRCm39) E20G probably damaging Het
Slc13a5 A G 11: 72,149,865 (GRCm39) V172A probably damaging Het
Slco5a1 C T 1: 12,949,486 (GRCm39) G635S probably damaging Het
Sp8 G T 12: 118,812,304 (GRCm39) S53I possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Togaram1 G T 12: 65,023,630 (GRCm39) probably null Het
Trip11 A T 12: 101,865,236 (GRCm39) F146I possibly damaging Het
Vmn1r184 T C 7: 25,966,550 (GRCm39) S99P probably damaging Het
Xpot T C 10: 121,447,488 (GRCm39) I325V probably benign Het
Zfp786 A G 6: 47,797,633 (GRCm39) L435P probably damaging Het
Other mutations in Rnaseh2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Rnaseh2b APN 14 62,602,706 (GRCm39) critical splice acceptor site probably null
IGL02475:Rnaseh2b APN 14 62,584,064 (GRCm39) missense probably damaging 1.00
R1268:Rnaseh2b UTSW 14 62,609,904 (GRCm39) missense possibly damaging 0.83
R1698:Rnaseh2b UTSW 14 62,591,081 (GRCm39) missense probably benign 0.02
R2138:Rnaseh2b UTSW 14 62,598,794 (GRCm39) missense probably benign
R3896:Rnaseh2b UTSW 14 62,597,906 (GRCm39) splice site probably benign
R4717:Rnaseh2b UTSW 14 62,591,075 (GRCm39) missense probably damaging 1.00
R5160:Rnaseh2b UTSW 14 62,590,980 (GRCm39) nonsense probably null
R6360:Rnaseh2b UTSW 14 62,598,868 (GRCm39) missense probably damaging 0.98
R8029:Rnaseh2b UTSW 14 62,590,997 (GRCm39) missense possibly damaging 0.92
R8401:Rnaseh2b UTSW 14 62,607,938 (GRCm39) missense probably benign 0.10
R8870:Rnaseh2b UTSW 14 62,569,617 (GRCm39) missense probably damaging 1.00
R9433:Rnaseh2b UTSW 14 62,602,722 (GRCm39) missense probably benign 0.02
R9570:Rnaseh2b UTSW 14 62,597,978 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TAGCTGACAAAGATAACTCTAGGTGC -3'
(R):5'- GTTTGGTCACTATTAGGCCACG -3'

Sequencing Primer
(F):5'- CTCTAGGTGCTTAAATATTTCCTGG -3'
(R):5'- TGGTCACTATTAGGCCACGAGTAG -3'
Posted On 2014-10-30