Incidental Mutation 'R1268:Rnaseh2b'
ID 151222
Institutional Source Beutler Lab
Gene Symbol Rnaseh2b
Ensembl Gene ENSMUSG00000021932
Gene Name ribonuclease H2, subunit B
Synonyms 2610207P08Rik, 1110019N06Rik, Dleu8
MMRRC Submission 039335-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1268 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 62569517-62610445 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62609904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 303 (K303N)
Ref Sequence ENSEMBL: ENSMUSP00000022499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022499]
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 possibly damaging
Transcript: ENSMUST00000022499
AA Change: K303N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022499
Gene: ENSMUSG00000021932
AA Change: K303N

DomainStartEndE-ValueType
Pfam:RNase_H2-Ydr279 14 298 6.8e-58 PFAM
Meta Mutation Damage Score 0.1786 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 100% (41/41)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T C 17: 14,108,248 (GRCm39) V1257A probably damaging Het
Aplnr A G 2: 84,967,775 (GRCm39) T267A possibly damaging Het
Arap2 A G 5: 62,887,964 (GRCm39) S461P probably benign Het
Brpf3 A G 17: 29,055,530 (GRCm39) T1160A probably damaging Het
Col5a1 A T 2: 27,892,501 (GRCm39) T1005S unknown Het
Crebrf CTTTT CTTT 17: 26,958,570 (GRCm39) probably null Het
Fmo6 A T 1: 162,748,086 (GRCm39) I326N probably damaging Het
Foxp4 G C 17: 48,191,278 (GRCm39) probably benign Het
Gnat1 A G 9: 107,553,076 (GRCm39) probably benign Het
Hs6st1 T A 1: 36,108,007 (GRCm39) V90D probably damaging Het
Igsf11 A G 16: 38,845,216 (GRCm39) T257A probably benign Het
Ints2 C T 11: 86,123,911 (GRCm39) G626R probably damaging Het
Mab21l3 C T 3: 101,742,363 (GRCm39) E66K possibly damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mybl2 A G 2: 162,916,636 (GRCm39) N429S probably benign Het
Mycbp2 G A 14: 103,446,218 (GRCm39) T1837I probably damaging Het
Myh7b C A 2: 155,455,966 (GRCm39) S117* probably null Het
Nek1 C A 8: 61,475,298 (GRCm39) A202E probably damaging Het
Notum C T 11: 120,549,493 (GRCm39) W159* probably null Het
Ntn1 TCCTCGGC TC 11: 68,103,959 (GRCm39) probably benign Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Or2w2 C T 13: 21,758,498 (GRCm39) V43M probably benign Het
Or4c58 A G 2: 89,674,498 (GRCm39) I273T probably damaging Het
Or4f57 G T 2: 111,791,222 (GRCm39) N65K possibly damaging Het
Or5b99 T C 19: 12,976,625 (GRCm39) Y92H possibly damaging Het
Or5p69 A T 7: 107,967,002 (GRCm39) I102F probably benign Het
Or7g12 T C 9: 18,899,652 (GRCm39) F123L probably damaging Het
Plk4 T A 3: 40,765,804 (GRCm39) V659D probably damaging Het
Rbm27 T C 18: 42,466,367 (GRCm39) S866P probably damaging Het
Samd9l C T 6: 3,376,113 (GRCm39) V383I possibly damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Slc35f2 T A 9: 53,705,197 (GRCm39) Y62* probably null Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Ulk1 A G 5: 110,938,143 (GRCm39) S610P probably damaging Het
Ulk4 C A 9: 121,086,140 (GRCm39) probably benign Het
Vdr T C 15: 97,755,356 (GRCm39) N389S probably benign 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
R1698:Rnaseh2b UTSW 14 62,591,081 (GRCm39) missense probably benign 0.02
R2138:Rnaseh2b UTSW 14 62,598,794 (GRCm39) missense probably benign
R2304:Rnaseh2b UTSW 14 62,598,838 (GRCm39) missense probably damaging 1.00
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'- TGCACCCTCAAAATGATTCCCAGAG -3'
(R):5'- AAGTCACAGCGCAGCAAGTGTC -3'

Sequencing Primer
(F):5'- GTGCTCATTGAACCAAGATTCAGG -3'
(R):5'- TGTCTGCAGGATGCGAAA -3'
Posted On 2014-01-29