Incidental Mutation 'R6226:Dnase2b'
ID 504324
Institutional Source Beutler Lab
Gene Symbol Dnase2b
Ensembl Gene ENSMUSG00000028185
Gene Name deoxyribonuclease II beta
Synonyms Dlad, DnaseIIb
MMRRC Submission 044397-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6226 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 146286740-146321351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146290318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 218 (Y218H)
Ref Sequence ENSEMBL: ENSMUSP00000142872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029836] [ENSMUST00000199489] [ENSMUST00000200633]
AlphaFold Q9QY48
Predicted Effect probably benign
Transcript: ENSMUST00000029836
AA Change: Y218H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029836
Gene: ENSMUSG00000028185
AA Change: Y218H

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DNase_II 27 353 1.5e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199489
SMART Domains Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186

DomainStartEndE-ValueType
Pfam:Uricase 1 121 8.3e-35 PFAM
Pfam:Uricase 128 228 1.8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200633
AA Change: Y218H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142872
Gene: ENSMUSG00000028185
AA Change: Y218H

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DNase_II 26 353 4.5e-117 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: The inability of homozygous mutant mice to degrade DNA in differentiating lens cells leads to cataract formation in the nucleus lentis. Consequently, mutant mice exhibit an impaired response to light. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,293,853 (GRCm39) T62A probably benign Het
Adam33 G A 2: 130,897,530 (GRCm39) T265I probably damaging Het
Afap1l2 T C 19: 56,904,560 (GRCm39) T654A probably benign Het
Agrn A G 4: 156,258,066 (GRCm39) S992P probably damaging Het
Anapc1 A G 2: 128,492,292 (GRCm39) F939L probably damaging Het
Anks1 G A 17: 28,276,304 (GRCm39) V1016I probably benign Het
Ankzf1 A G 1: 75,173,238 (GRCm39) T401A probably benign Het
Atad1 G T 19: 32,678,987 (GRCm39) D105E probably benign Het
Carmil2 A G 8: 106,415,664 (GRCm39) T313A possibly damaging Het
Cdk15 T C 1: 59,304,792 (GRCm39) V131A probably damaging Het
Cldnd1 A T 16: 58,551,663 (GRCm39) probably null Het
Col16a1 A T 4: 129,948,882 (GRCm39) probably benign Het
Cts3 T A 13: 61,716,535 (GRCm39) I34L probably benign Het
Dnah7b A C 1: 46,165,828 (GRCm39) K498Q probably benign Het
Dsg2 T A 18: 20,712,506 (GRCm39) V170D probably damaging Het
Dst T C 1: 34,309,955 (GRCm39) V1543A probably damaging Het
Ell3 A T 2: 121,272,258 (GRCm39) I72K probably damaging Het
Fank1 A G 7: 133,463,927 (GRCm39) Y41C probably benign Het
Foxd3 T C 4: 99,545,261 (GRCm39) Y134H probably damaging Het
Frmd6 A G 12: 70,910,685 (GRCm39) probably benign Het
Gale A G 4: 135,692,916 (GRCm39) E53G possibly damaging Het
Glis3 A G 19: 28,294,702 (GRCm39) S699P probably damaging Het
Gm12830 T A 4: 114,702,246 (GRCm39) M136K unknown Het
Grik3 T C 4: 125,553,582 (GRCm39) V438A probably benign Het
Gsap A G 5: 21,422,429 (GRCm39) N133D probably damaging Het
Gsg1 T A 6: 135,217,110 (GRCm39) D239V probably damaging Het
H2-T10 A T 17: 36,431,975 (GRCm39) W23R probably damaging Het
Itgae A G 11: 73,031,583 (GRCm39) T1100A probably benign Het
Kcnh7 A T 2: 62,607,903 (GRCm39) F559L probably damaging Het
Kdm5b G T 1: 134,536,616 (GRCm39) R612L probably damaging Het
Lrrc74a T A 12: 86,795,231 (GRCm39) N253K possibly damaging Het
Mcm3ap A G 10: 76,351,540 (GRCm39) H1961R possibly damaging Het
Ncam1 C T 9: 49,476,304 (GRCm39) E262K probably benign Het
Nckap1 A G 2: 80,339,125 (GRCm39) S968P possibly damaging Het
Nkapd1 T C 9: 50,519,070 (GRCm39) T181A possibly damaging Het
Nr2f2 T G 7: 70,009,744 (GRCm39) S112R probably benign Het
Nup93 T C 8: 95,013,165 (GRCm39) W137R probably damaging Het
Or10ag53 A G 2: 87,082,736 (GRCm39) S152G probably benign Het
Or2t26 A G 11: 49,039,660 (GRCm39) D192G possibly damaging Het
Or4a78 A T 2: 89,497,333 (GRCm39) L299H probably damaging Het
Or52n1 A T 7: 104,383,243 (GRCm39) F109L probably damaging Het
Or8b12 T A 9: 37,657,433 (GRCm39) M1K probably null Het
Or8b55 T C 9: 38,727,666 (GRCm39) I289T probably damaging Het
Otogl A T 10: 107,607,067 (GRCm39) Y2105* probably null Het
Pibf1 A G 14: 99,338,555 (GRCm39) S24G probably damaging Het
Pitx2 C T 3: 129,009,491 (GRCm39) R130W probably damaging Het
Pkd1l1 T C 11: 8,851,287 (GRCm39) N715S probably benign Het
Pou6f2 A T 13: 18,303,739 (GRCm39) I123N possibly damaging Het
Prss29 T A 17: 25,539,513 (GRCm39) H35Q possibly damaging Het
Ptpn21 A G 12: 98,646,375 (GRCm39) F1028L probably benign Het
Ptpn21 A T 12: 98,681,431 (GRCm39) Y68N probably damaging Het
Ptprk A G 10: 28,440,099 (GRCm39) T856A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpl22l1 A G 3: 28,860,676 (GRCm39) T13A possibly damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sec14l5 G A 16: 4,994,429 (GRCm39) V408I probably damaging Het
Serpina5 T C 12: 104,068,037 (GRCm39) S33P possibly damaging Het
Sgip1 A G 4: 102,823,392 (GRCm39) N524S probably damaging Het
Shkbp1 C A 7: 27,051,405 (GRCm39) R218M probably null Het
Sorcs1 T A 19: 50,169,852 (GRCm39) I970F probably damaging Het
Spg11 A G 2: 121,918,743 (GRCm39) V962A possibly damaging Het
Sptbn1 A G 11: 30,086,054 (GRCm39) M1205T probably damaging Het
Sufu G A 19: 46,462,093 (GRCm39) V369M probably damaging Het
Tmem98 T C 11: 80,712,220 (GRCm39) F219S probably benign Het
Trim27 T C 13: 21,365,086 (GRCm39) probably benign Het
Trim43b T C 9: 88,973,328 (GRCm39) E135G possibly damaging Het
Ube2m A G 7: 12,769,815 (GRCm39) V110A probably damaging Het
Ugt2b36 A G 5: 87,239,989 (GRCm39) V132A probably damaging Het
Usp36 A T 11: 118,168,100 (GRCm39) S86T probably damaging Het
Zfp941 A T 7: 140,392,398 (GRCm39) D320E probably benign Het
Other mutations in Dnase2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Dnase2b APN 3 146,302,133 (GRCm39) missense probably benign 0.34
IGL01626:Dnase2b APN 3 146,290,371 (GRCm39) splice site probably null
IGL02582:Dnase2b APN 3 146,294,840 (GRCm39) missense probably benign 0.00
IGL02970:Dnase2b APN 3 146,288,261 (GRCm39) missense probably damaging 0.97
R0006:Dnase2b UTSW 3 146,288,244 (GRCm39) missense probably damaging 0.99
R0006:Dnase2b UTSW 3 146,288,244 (GRCm39) missense probably damaging 0.99
R0233:Dnase2b UTSW 3 146,288,305 (GRCm39) missense probably benign 0.01
R0233:Dnase2b UTSW 3 146,288,305 (GRCm39) missense probably benign 0.01
R0539:Dnase2b UTSW 3 146,294,910 (GRCm39) splice site probably benign
R1544:Dnase2b UTSW 3 146,290,312 (GRCm39) missense probably benign 0.03
R2201:Dnase2b UTSW 3 146,290,443 (GRCm39) missense probably damaging 0.99
R3690:Dnase2b UTSW 3 146,299,326 (GRCm39) nonsense probably null
R4921:Dnase2b UTSW 3 146,299,196 (GRCm39) missense probably damaging 1.00
R5318:Dnase2b UTSW 3 146,288,210 (GRCm39) missense probably benign 0.02
R6593:Dnase2b UTSW 3 146,292,666 (GRCm39) missense probably damaging 1.00
R6781:Dnase2b UTSW 3 146,288,126 (GRCm39) missense probably benign 0.40
R7035:Dnase2b UTSW 3 146,288,096 (GRCm39) missense probably damaging 1.00
R7314:Dnase2b UTSW 3 146,288,151 (GRCm39) missense probably damaging 0.99
R8992:Dnase2b UTSW 3 146,292,717 (GRCm39) missense probably damaging 1.00
R9154:Dnase2b UTSW 3 146,299,326 (GRCm39) nonsense probably null
R9590:Dnase2b UTSW 3 146,290,323 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAGATGCATACGTTGGTGCC -3'
(R):5'- CAGGAAGCATTTCAATTTGTGC -3'

Sequencing Primer
(F):5'- CATACGTTGGTGCCAGAACTG -3'
(R):5'- TGTGCTTAAGTTCTTAACTCTTCG -3'
Posted On 2018-02-28