Incidental Mutation 'R3690:Dnase2b'
ID 269712
Institutional Source Beutler Lab
Gene Symbol Dnase2b
Ensembl Gene ENSMUSG00000028185
Gene Name deoxyribonuclease II beta
Synonyms Dlad, DnaseIIb
MMRRC Submission 040685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R3690 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 146286740-146321351 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 146299326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 42 (Y42*)
Ref Sequence ENSEMBL: ENSMUSP00000142872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029836] [ENSMUST00000029837] [ENSMUST00000121133] [ENSMUST00000147409] [ENSMUST00000199489] [ENSMUST00000200633]
AlphaFold Q9QY48
Predicted Effect probably null
Transcript: ENSMUST00000029836
AA Change: Y42*
SMART Domains Protein: ENSMUSP00000029836
Gene: ENSMUSG00000028185
AA Change: Y42*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DNase_II 27 353 1.5e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000029837
SMART Domains Protein: ENSMUSP00000029837
Gene: ENSMUSG00000028186

DomainStartEndE-ValueType
Pfam:Uricase 19 144 8.7e-25 PFAM
Pfam:Uricase 153 292 5.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121133
SMART Domains Protein: ENSMUSP00000113649
Gene: ENSMUSG00000028186

DomainStartEndE-ValueType
Pfam:Uricase 2 72 1.2e-19 PFAM
Pfam:Uricase 79 181 8.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138921
Predicted Effect probably benign
Transcript: ENSMUST00000147409
SMART Domains Protein: ENSMUSP00000143299
Gene: ENSMUSG00000028186

DomainStartEndE-ValueType
Pfam:Uricase 1 73 1.1e-17 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 null
Transcript: ENSMUST00000200633
AA Change: Y42*
SMART Domains Protein: ENSMUSP00000142872
Gene: ENSMUSG00000028185
AA Change: Y42*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DNase_II 26 353 4.5e-117 PFAM
Meta Mutation Damage Score 0.9717 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,091,328 (GRCm39) Y629F probably benign Het
Abcb5 T A 12: 118,836,668 (GRCm39) D1081V probably damaging Het
Afdn A G 17: 14,108,671 (GRCm39) E1398G probably damaging Het
Atp8b5 T C 4: 43,368,055 (GRCm39) C893R probably damaging Het
Avl9 C T 6: 56,713,812 (GRCm39) H357Y probably benign Het
Bclaf1 C T 10: 20,201,143 (GRCm39) T423I possibly damaging Het
Btbd19 A T 4: 116,977,789 (GRCm39) probably benign Het
Cap1 A G 4: 122,758,419 (GRCm39) S254P probably damaging Het
Cdc42ep1 T C 15: 78,731,629 (GRCm39) S25P probably benign Het
Cln6 T C 9: 62,754,252 (GRCm39) I98T possibly damaging Het
Cul9 T C 17: 46,814,957 (GRCm39) probably null Het
Dcx T C X: 142,660,240 (GRCm39) E268G possibly damaging Het
Ddias G A 7: 92,509,366 (GRCm39) P183L probably benign Het
Dusp16 C T 6: 134,738,082 (GRCm39) probably benign Het
Egfr T C 11: 16,821,881 (GRCm39) probably benign Het
Fam171a1 T C 2: 3,227,393 (GRCm39) V842A probably benign Het
Folr1 T C 7: 101,507,745 (GRCm39) S232G probably benign Het
Foxj3 T C 4: 119,473,839 (GRCm39) probably benign Het
Fpr-rs6 T C 17: 20,403,137 (GRCm39) M75V probably benign Het
Fxyd5 G T 7: 30,735,864 (GRCm39) L128M possibly damaging Het
Gigyf2 T C 1: 87,349,238 (GRCm39) S500P possibly damaging Het
Inppl1 A G 7: 101,481,275 (GRCm39) L268P probably damaging Het
Klk1b24 A T 7: 43,841,243 (GRCm39) H192L probably benign Het
Llgl1 T G 11: 60,597,828 (GRCm39) Y316D probably damaging Het
Lmbrd1 T A 1: 24,801,374 (GRCm39) *143R probably null Het
Map3k15 T A X: 158,905,568 (GRCm39) N1295K possibly damaging Het
Mcm3ap A G 10: 76,318,513 (GRCm39) E678G probably damaging Het
Mrpl44 T A 1: 79,757,366 (GRCm39) Y270* probably null Het
Nav1 T A 1: 135,395,382 (GRCm39) I996L probably benign Het
Neb T C 2: 52,027,397 (GRCm39) E6868G probably damaging Het
Nexmif A T X: 103,131,213 (GRCm39) Y235N probably damaging Het
Nup50 C T 15: 84,823,994 (GRCm39) T449M probably damaging Het
Or14a256 G A 7: 86,265,686 (GRCm39) P56S probably damaging Het
Or2b6 A G 13: 21,823,508 (GRCm39) F62L probably damaging Het
Or51aa2 T C 7: 103,188,274 (GRCm39) T56A probably benign Het
Or52e8b A G 7: 104,673,902 (GRCm39) L95P probably damaging Het
Or52n2 T C 7: 104,542,724 (GRCm39) Y37C possibly damaging Het
Pald1 A T 10: 61,191,587 (GRCm39) probably null Het
Pde11a T A 2: 76,121,510 (GRCm39) K357I probably damaging Het
Ric3 A G 7: 108,637,817 (GRCm39) V312A possibly damaging Het
Scaper C T 9: 55,791,205 (GRCm39) G231D probably benign Het
Smc1b T A 15: 85,001,464 (GRCm39) probably benign Het
Smcr8 A G 11: 60,668,854 (GRCm39) M1V probably null Het
Smtn T C 11: 3,477,687 (GRCm39) probably benign Het
Spatc1 A T 15: 76,152,495 (GRCm39) K42* probably null Het
Taf7l A T X: 133,365,074 (GRCm39) I449K probably damaging Het
Tex47 A G 5: 7,354,777 (GRCm39) probably benign Het
Tram2 T A 1: 21,075,824 (GRCm39) Y198F probably damaging Het
Ttn C G 2: 76,629,588 (GRCm39) W14284C probably damaging Het
Ube3a A G 7: 58,926,547 (GRCm39) K442E probably damaging Het
Vmn2r116 T A 17: 23,603,798 (GRCm39) F8I unknown Het
Vmn2r59 A G 7: 41,661,370 (GRCm39) F815S possibly damaging Het
Zap70 T C 1: 36,820,493 (GRCm39) C563R probably damaging Het
Zfp579 T C 7: 4,997,719 (GRCm39) H64R probably damaging 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
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
R6226:Dnase2b UTSW 3 146,290,318 (GRCm39) missense probably benign
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'- CCACAAATGGTTGACTGTCACC -3'
(R):5'- TATGCCACCCATACCAAGCTTG -3'

Sequencing Primer
(F):5'- GACTGTCACCTACCGTGGAATTATG -3'
(R):5'- GCTTGTCCTCACTAGAGAAAGGC -3'
Posted On 2015-02-19