Incidental Mutation 'IGL02970:Dnase2b'
ID365771
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnase2b
Ensembl Gene ENSMUSG00000028185
Gene Namedeoxyribonuclease II beta
SynonymsDlad, DnaseIIb
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02970
Quality Score
Status
Chromosome3
Chromosomal Location146580985-146615596 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 146582506 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 278 (V278A)
Ref Sequence ENSEMBL: ENSMUSP00000142872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029836] [ENSMUST00000199489] [ENSMUST00000200633]
Predicted Effect probably damaging
Transcript: ENSMUST00000029836
AA Change: V278A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029836
Gene: ENSMUSG00000028185
AA Change: V278A

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 damaging
Transcript: ENSMUST00000200633
AA Change: V278A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142872
Gene: ENSMUSG00000028185
AA Change: V278A

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,187,589 G5S probably damaging Het
A2ml1 A T 6: 128,569,979 F396I probably damaging Het
BC051019 T A 7: 109,716,055 N331I probably benign Het
Crocc G A 4: 141,030,246 S912L possibly damaging Het
Dcaf4 A G 12: 83,529,215 D46G probably damaging Het
Dido1 C T 2: 180,689,415 R80Q probably damaging Het
Drosha C T 15: 12,913,956 L1106F probably damaging Het
Dsc3 C A 18: 19,968,260 W692L probably damaging Het
F2 T A 2: 91,625,551 Y579F possibly damaging Het
Fam126b T C 1: 58,539,617 E258G probably damaging Het
Fam43a C T 16: 30,601,104 R169C probably damaging Het
Gm9772 A G 17: 22,006,559 F120S probably damaging Het
Gsdma3 T C 11: 98,632,993 S251P probably benign Het
Itgam G A 7: 128,086,043 E443K probably benign Het
Kif18a T C 2: 109,287,888 V16A probably damaging Het
Lrrn3 T G 12: 41,452,360 S653R probably benign Het
Map1b A T 13: 99,430,734 Y1826* probably null Het
Mbnl1 T C 3: 60,613,423 F139S probably damaging Het
Micu3 T C 8: 40,382,130 Y509H possibly damaging Het
Ncmap T C 4: 135,377,018 T17A probably damaging Het
Oas1h T A 5: 120,861,635 M61K possibly damaging Het
Otog T A 7: 46,295,867 W2183R probably benign Het
Pcdh15 T C 10: 74,290,962 probably benign Het
Plekho1 C T 3: 95,990,902 V150I probably damaging Het
Ppargc1b A G 18: 61,298,766 S1004P probably damaging Het
Prf1 T C 10: 61,300,178 S78P probably benign Het
Prss12 A G 3: 123,482,762 S347G probably benign Het
Rai1 T C 11: 60,185,733 S208P probably damaging Het
Sgms1 A G 19: 32,159,765 Y134H probably damaging Het
Sult2a4 A G 7: 13,909,906 probably benign Het
T C T 17: 8,435,385 A134V probably damaging Het
Thoc5 A G 11: 4,904,201 T187A probably damaging Het
Ticrr A G 7: 79,695,171 S1595G probably benign Het
Tiprl A G 1: 165,236,746 S30P probably damaging Het
Ttl T C 2: 129,076,070 S151P probably damaging Het
Ttn T A 2: 76,752,990 T22520S probably damaging Het
Usp54 G A 14: 20,577,472 S420L probably damaging Het
Vmn1r62 T A 7: 5,675,568 Y83N possibly damaging Het
Other mutations in Dnase2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Dnase2b APN 3 146596378 missense probably benign 0.34
IGL01626:Dnase2b APN 3 146584616 splice site probably null
IGL02582:Dnase2b APN 3 146589085 missense probably benign 0.00
R0006:Dnase2b UTSW 3 146582489 missense probably damaging 0.99
R0006:Dnase2b UTSW 3 146582489 missense probably damaging 0.99
R0233:Dnase2b UTSW 3 146582550 missense probably benign 0.01
R0233:Dnase2b UTSW 3 146582550 missense probably benign 0.01
R0539:Dnase2b UTSW 3 146589155 splice site probably benign
R1544:Dnase2b UTSW 3 146584557 missense probably benign 0.03
R2201:Dnase2b UTSW 3 146584688 missense probably damaging 0.99
R3690:Dnase2b UTSW 3 146593571 nonsense probably null
R4921:Dnase2b UTSW 3 146593441 missense probably damaging 1.00
R5318:Dnase2b UTSW 3 146582455 missense probably benign 0.02
R6226:Dnase2b UTSW 3 146584563 missense probably benign
R6593:Dnase2b UTSW 3 146586911 missense probably damaging 1.00
R6781:Dnase2b UTSW 3 146582371 missense probably benign 0.40
R7035:Dnase2b UTSW 3 146582341 missense probably damaging 1.00
R7314:Dnase2b UTSW 3 146582396 missense probably damaging 0.99
Posted On2015-12-18