Incidental Mutation 'R6781:Dnase2b'
ID 531408
Institutional Source Beutler Lab
Gene Symbol Dnase2b
Ensembl Gene ENSMUSG00000028185
Gene Name deoxyribonuclease II beta
Synonyms Dlad, DnaseIIb
MMRRC Submission 044895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6781 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 146286740-146321351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 146288126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 323 (H323R)
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: H323R

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029836
Gene: ENSMUSG00000028185
AA Change: H323R

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: H323R

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142872
Gene: ENSMUSG00000028185
AA Change: H323R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DNase_II 26 353 4.5e-117 PFAM
Meta Mutation Damage Score 0.2339 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (45/46)
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
Abca3 T A 17: 24,593,380 (GRCm39) I259N possibly damaging Het
Acot12 G T 13: 91,932,531 (GRCm39) probably null Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Amigo3 T C 9: 107,931,162 (GRCm39) L195P probably damaging Het
Aox4 A T 1: 58,284,268 (GRCm39) D556V probably benign Het
Arhgef40 A C 14: 52,235,354 (GRCm39) probably benign Het
Asb15 T C 6: 24,558,674 (GRCm39) V63A probably benign Het
Bicd1 T C 6: 149,414,664 (GRCm39) I459T possibly damaging Het
Bub1 C A 2: 127,649,777 (GRCm39) G694W probably damaging Het
C4b A T 17: 34,961,928 (GRCm39) I106N probably damaging Het
Clca4b T C 3: 144,628,562 (GRCm39) I382V probably benign Het
Cntnap5a A C 1: 116,220,127 (GRCm39) S646R probably benign Het
Cntnap5c C T 17: 58,445,648 (GRCm39) Q563* probably null Het
Cpn1 A G 19: 43,969,343 (GRCm39) F107L possibly damaging Het
Csrnp3 T A 2: 65,852,615 (GRCm39) C336S probably benign Het
Defa3 T A 8: 21,778,277 (GRCm39) M87K probably benign Het
Dennd2b T C 7: 109,124,511 (GRCm39) D1110G possibly damaging Het
Dmbt1 T C 7: 130,648,291 (GRCm39) F274L probably benign Het
Dnah8 TTA TTATA 17: 30,984,698 (GRCm39) probably null Het
Fam83e A T 7: 45,371,571 (GRCm39) probably benign Het
Fbn1 T C 2: 125,158,958 (GRCm39) N2269S probably damaging Het
Foxa1 A T 12: 57,590,043 (GRCm39) M59K possibly damaging Het
Fpr3 T C 17: 18,190,978 (GRCm39) V83A probably benign Het
Frmd6 A G 12: 70,946,417 (GRCm39) D615G possibly damaging Het
Gfra3 T C 18: 34,844,375 (GRCm39) K55R possibly damaging Het
Gm5414 A T 15: 101,534,096 (GRCm39) S296T possibly damaging Het
Gtf3c1 T A 7: 125,258,369 (GRCm39) K1234* probably null Het
Hltf T A 3: 20,152,330 (GRCm39) Y609N probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ift74 A G 4: 94,515,539 (GRCm39) D152G probably damaging Het
Kcnk6 T C 7: 28,924,480 (GRCm39) Y308C probably damaging Het
Klhl29 A G 12: 5,141,347 (GRCm39) S546P probably damaging Het
Map7d1 AGGGCAGCC AGGGCAGCCGGGCAGCC 4: 126,134,544 (GRCm39) probably null Het
Meis2 T A 2: 115,879,636 (GRCm39) H228L probably benign Het
Mfsd10 A T 5: 34,791,853 (GRCm39) M344K possibly damaging Het
Mrps33 T C 6: 39,782,757 (GRCm39) probably benign Het
Or2a52 A G 6: 43,144,322 (GRCm39) E110G probably damaging Het
Or4p23 A T 2: 88,577,174 (GRCm39) N19K probably benign Het
Pik3cb T C 9: 98,923,045 (GRCm39) T996A possibly damaging Het
Plekha7 A G 7: 115,757,090 (GRCm39) probably null Het
Ppp1cb A G 5: 32,638,106 (GRCm39) Y86C probably damaging Het
Sass6 T G 3: 116,388,773 (GRCm39) probably benign Het
Slc6a15 A T 10: 103,230,928 (GRCm39) I218F probably damaging Het
Tcf23 C T 5: 31,126,304 (GRCm39) P61L probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zc3h6 T C 2: 128,857,341 (GRCm39) F620S 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
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
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'- TGTGCTCACTCAGAAGCCTTG -3'
(R):5'- TGTTAGCACAAACCTGGCAG -3'

Sequencing Primer
(F):5'- CACTCAGAAGCCTTGAAATTATGGAG -3'
(R):5'- TGTTAGCACAAACCTGGCAGAAAAAG -3'
Posted On 2018-08-29