Incidental Mutation 'R9154:Dnase2b'
ID 695210
Institutional Source Beutler Lab
Gene Symbol Dnase2b
Ensembl Gene ENSMUSG00000028185
Gene Name deoxyribonuclease II beta
Synonyms Dlad, DnaseIIb
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R9154 (G1)
Quality Score 225.009
Status Not 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,926,926 (GRCm39) V862A probably benign Het
A2m A T 6: 121,645,512 (GRCm39) K1019M probably damaging Het
Acot6 G T 12: 84,147,789 (GRCm39) W15L possibly damaging Het
Adam32 CCAGCAGCAGCAGCAGCAG CCAGCAGCAGCAGCAG 8: 25,438,769 (GRCm39) probably benign Het
Adnp C A 2: 168,026,580 (GRCm39) Q238H possibly damaging Het
Akap7 T C 10: 25,047,053 (GRCm39) Y281C probably damaging Het
Ank1 A G 8: 23,605,387 (GRCm39) E1085G probably damaging Het
Arhgef38 A T 3: 132,837,924 (GRCm39) S669T unknown Het
Atp8b2 A T 3: 89,865,927 (GRCm39) S50R possibly damaging Het
Atp8b5 T C 4: 43,372,630 (GRCm39) I1090T probably benign Het
Ccdc198 A T 14: 49,473,367 (GRCm39) H129Q probably benign Het
Chrna4 G A 2: 180,670,602 (GRCm39) R385C probably damaging Het
Col4a1 T A 8: 11,267,446 (GRCm39) I1105F probably damaging Het
Crybg2 G A 4: 133,792,620 (GRCm39) R85Q probably benign Het
Cspg4 T A 9: 56,798,287 (GRCm39) L1434Q Het
Cyp3a13 T C 5: 137,919,758 (GRCm39) N6S probably benign Het
F11r A G 1: 171,289,376 (GRCm39) E233G probably damaging Het
Fip1l1 T C 5: 74,747,703 (GRCm39) I390T possibly damaging Het
Fiz1 G A 7: 5,011,280 (GRCm39) R413C probably damaging Het
Fus G A 7: 127,580,440 (GRCm39) G450E unknown Het
Gm11569 C A 11: 99,689,267 (GRCm39) C144F unknown Het
Gm7298 A T 6: 121,756,436 (GRCm39) Y1027F probably damaging Het
Grik5 C A 7: 24,758,403 (GRCm39) W340L probably damaging Het
H1f2 A G 13: 23,923,373 (GRCm39) K181R unknown Het
Hectd4 G A 5: 121,391,967 (GRCm39) R77H Het
Ift81 C A 5: 122,689,122 (GRCm39) V665L probably benign Het
Ints2 A G 11: 86,125,524 (GRCm39) F559L probably damaging Het
Kdm8 G A 7: 125,054,296 (GRCm39) V176I probably benign Het
Keap1 A T 9: 21,142,121 (GRCm39) Y584* probably null Het
Klra1 T C 6: 130,357,607 (GRCm39) T7A Het
Lmo7 T A 14: 102,122,743 (GRCm39) W311R probably damaging Het
Lrp6 A G 6: 134,518,855 (GRCm39) V70A probably damaging Het
Luc7l3 A T 11: 94,190,793 (GRCm39) S174T unknown Het
Madd T C 2: 90,998,162 (GRCm39) T653A probably damaging Het
Mlph G T 1: 90,855,716 (GRCm39) G41V probably damaging Het
Mov10l1 A G 15: 88,896,118 (GRCm39) E654G possibly damaging Het
Mpp3 T C 11: 101,911,328 (GRCm39) I165V Het
Mrgpra2a T G 7: 47,076,394 (GRCm39) Y288S probably damaging Het
Mroh9 T A 1: 162,890,030 (GRCm39) M236L Het
Muc5b A C 7: 141,417,974 (GRCm39) K3640T probably damaging Het
Myh13 A G 11: 67,253,318 (GRCm39) I1485V probably benign Het
Nf2 A T 11: 4,744,873 (GRCm39) F285L probably damaging Het
Nfx1 T A 4: 40,990,845 (GRCm39) C471S probably damaging Het
Nsd1 C T 13: 55,361,253 (GRCm39) R74W probably damaging Het
Nudt16l1 A T 16: 4,758,281 (GRCm39) *212C probably null Het
Oaf T C 9: 43,133,992 (GRCm39) Y243C probably damaging Het
Or51e1 T C 7: 102,358,541 (GRCm39) V25A probably benign Het
Or6c3 T C 10: 129,308,690 (GRCm39) I43T probably benign Het
Or7g30 T A 9: 19,352,531 (GRCm39) F107L probably benign Het
Or7h8 A G 9: 20,124,173 (GRCm39) H176R possibly damaging Het
Or8b36 T A 9: 37,937,690 (GRCm39) L196* probably null Het
Parp9 T C 16: 35,768,543 (GRCm39) I241T probably damaging Het
Phlpp2 G T 8: 110,666,590 (GRCm39) A1040S possibly damaging Het
Pon2 A T 6: 5,265,391 (GRCm39) V332E possibly damaging Het
Ptprc A G 1: 138,016,302 (GRCm39) V544A probably damaging Het
Rfx6 A G 10: 51,597,600 (GRCm39) S446G probably benign Het
Rnf103 T A 6: 71,487,099 (GRCm39) C577S probably benign Het
Ros1 T G 10: 51,922,301 (GRCm39) E2278D possibly damaging Het
Rpl37 A G 15: 5,147,109 (GRCm39) S50G probably benign Het
Rrad C T 8: 105,355,343 (GRCm39) V222M possibly damaging Het
Ryr1 T C 7: 28,769,283 (GRCm39) T2770A probably benign Het
Secisbp2l G A 2: 125,617,623 (GRCm39) P18L probably damaging Het
Septin2 T A 1: 93,429,310 (GRCm39) W260R probably damaging Het
Slc35c2 A G 2: 165,122,797 (GRCm39) M117T probably benign Het
Slc44a5 A G 3: 153,953,373 (GRCm39) T252A probably benign Het
Speer4f2 T A 5: 17,581,610 (GRCm39) L184Q Het
Sphkap C G 1: 83,234,982 (GRCm39) V1615L probably damaging Het
Sult2a3 C T 7: 13,806,981 (GRCm39) V234I probably benign Het
Tanc1 T C 2: 59,630,132 (GRCm39) L704P probably damaging Het
Tas2r126 T C 6: 42,412,174 (GRCm39) S236P probably benign Het
Tnik A G 3: 28,704,235 (GRCm39) I1020V probably damaging Het
Tomm5 T C 4: 45,106,724 (GRCm39) Q64R unknown Het
Ttll13 A G 7: 79,897,182 (GRCm39) E16G probably benign Het
Vmn1r21 C A 6: 57,821,348 (GRCm39) C32F probably benign Het
Vmn2r51 T A 7: 9,839,480 (GRCm39) D36V probably damaging Het
Vmn2r63 C T 7: 42,576,413 (GRCm39) D467N probably damaging Het
Vwce A G 19: 10,625,850 (GRCm39) N454S possibly damaging Het
Wfdc1 A C 8: 120,406,116 (GRCm39) D77A Het
Yme1l1 T A 2: 23,077,815 (GRCm39) I419N probably damaging Het
Zfp106 G A 2: 120,364,812 (GRCm39) Q555* probably null Het
Zfp773 A C 7: 7,138,302 (GRCm39) M111R probably damaging Het
Zmat3 G A 3: 32,397,767 (GRCm39) A165V possibly 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
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
R9590:Dnase2b UTSW 3 146,290,323 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGTTGACTGTCACCTACCG -3'
(R):5'- TGTAGAATATATGCCACCCATACC -3'

Sequencing Primer
(F):5'- GACTGTCACCTACCGTGGAATTATG -3'
(R):5'- GCTTGTCCTCACTAGAGAAAGGC -3'
Posted On 2022-01-20