Incidental Mutation 'IGL02582:Dnase2b'
ID 299382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnase2b
Ensembl Gene ENSMUSG00000028185
Gene Name deoxyribonuclease II beta
Synonyms Dlad, DnaseIIb
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL02582
Quality Score
Status
Chromosome 3
Chromosomal Location 146286740-146321351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 146294840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 118 (Q118L)
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: Q118L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029836
Gene: ENSMUSG00000028185
AA Change: Q118L

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: Q118L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000142872
Gene: ENSMUSG00000028185
AA Change: Q118L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DNase_II 26 353 4.5e-117 PFAM
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T A 9: 53,506,045 (GRCm39) I92F probably benign Het
Actr3b A G 5: 26,037,411 (GRCm39) I208V probably benign Het
Car12 T C 9: 66,621,159 (GRCm39) V10A probably benign Het
Ccdc171 C A 4: 83,661,255 (GRCm39) R1122S probably damaging Het
Cep97 A G 16: 55,742,539 (GRCm39) V136A probably damaging Het
Cilp2 G T 8: 70,333,936 (GRCm39) Q1021K probably damaging Het
Col24a1 C A 3: 145,020,247 (GRCm39) T206N probably damaging Het
Crebbp A T 16: 3,902,141 (GRCm39) I2328K possibly damaging Het
Ctns A G 11: 73,087,478 (GRCm39) F16S probably benign Het
Dbf4 T C 5: 8,453,172 (GRCm39) K276E probably benign Het
Elf1 T C 14: 79,773,819 (GRCm39) L10P probably damaging Het
Exosc5 T C 7: 25,364,988 (GRCm39) probably null Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fam180a G T 6: 35,290,647 (GRCm39) A112E possibly damaging Het
Fam3b A T 16: 97,272,391 (GRCm39) Y89* probably null Het
Gcg C T 2: 62,308,922 (GRCm39) W77* probably null Het
Gm17472 G A 6: 42,957,832 (GRCm39) V34I possibly damaging Het
Klhl23 T A 2: 69,654,582 (GRCm39) C151S probably damaging Het
Mdh1b T A 1: 63,758,756 (GRCm39) I279F probably benign Het
Mfsd11 T A 11: 116,764,701 (GRCm39) I375N probably damaging Het
Mroh2b T A 15: 4,937,997 (GRCm39) I206N probably damaging Het
Myo1b T C 1: 51,821,133 (GRCm39) E456G possibly damaging Het
Nat8 G A 6: 85,807,783 (GRCm39) Q117* probably null Het
Nlrp4g A C 9: 124,349,764 (GRCm38) noncoding transcript Het
Nmt1 G T 11: 102,955,625 (GRCm39) G468C possibly damaging Het
Nobox G T 6: 43,281,973 (GRCm39) Q367K possibly damaging Het
Nusap1 A G 2: 119,479,470 (GRCm39) *428W probably null Het
Or12j4 T C 7: 140,046,560 (GRCm39) F149L probably benign Het
Or4c126 G A 2: 89,824,656 (GRCm39) M306I probably benign Het
Pbp2 T C 6: 135,287,147 (GRCm39) I67V probably benign Het
Pcdhb8 T G 18: 37,488,427 (GRCm39) M35R possibly damaging Het
Pkp1 T C 1: 135,817,664 (GRCm39) E157G probably damaging Het
Pomgnt1 C T 4: 116,015,747 (GRCm39) L560F probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Ptprd T A 4: 75,865,361 (GRCm39) R1446S probably damaging Het
Ptprq T C 10: 107,479,860 (GRCm39) T1137A probably benign Het
Sec22c T C 9: 121,514,630 (GRCm39) I153V probably benign Het
Slc30a5 C T 13: 100,949,155 (GRCm39) probably null Het
Smcr8 T C 11: 60,669,721 (GRCm39) S290P probably benign Het
Stambpl1 T G 19: 34,212,612 (GRCm39) L261V probably benign Het
Stk38l T C 6: 146,668,321 (GRCm39) probably null Het
Themis T C 10: 28,637,543 (GRCm39) F216L probably benign Het
Trmt1l T C 1: 151,309,536 (GRCm39) probably benign Het
Usp17lb C A 7: 104,489,937 (GRCm39) C330F probably damaging Het
Vmn2r120 A T 17: 57,831,724 (GRCm39) L355H probably damaging Het
Zc3h7b T A 15: 81,653,341 (GRCm39) C82S 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
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
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
Posted On 2015-04-16