Incidental Mutation 'R5768:Ddb2'
ID 446366
Institutional Source Beutler Lab
Gene Symbol Ddb2
Ensembl Gene ENSMUSG00000002109
Gene Name damage specific DNA binding protein 2
Synonyms 2610043A19Rik, p48
MMRRC Submission 043368-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R5768 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 91041917-91067327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91042337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 419 (S419G)
Ref Sequence ENSEMBL: ENSMUSP00000028696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002172] [ENSMUST00000028696] [ENSMUST00000111352] [ENSMUST00000150403]
AlphaFold Q99J79
Predicted Effect probably benign
Transcript: ENSMUST00000002172
SMART Domains Protein: ENSMUSP00000002172
Gene: ENSMUSG00000002103

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:His_Phos_2 54 330 1.5e-35 PFAM
transmembrane domain 382 404 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000028696
AA Change: S419G

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028696
Gene: ENSMUSG00000002109
AA Change: S419G

DomainStartEndE-ValueType
low complexity region 48 69 N/A INTRINSIC
WD40 100 140 1.48e-2 SMART
WD40 144 185 7.92e1 SMART
WD40 187 229 7.36e1 SMART
WD40 231 271 3.14e-6 SMART
WD40 278 316 3.55e-5 SMART
Blast:WD40 379 419 1e-14 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000111352
AA Change: S283G

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106984
Gene: ENSMUSG00000002109
AA Change: S283G

DomainStartEndE-ValueType
WD40 8 49 7.92e1 SMART
WD40 51 93 7.36e1 SMART
WD40 95 135 3.14e-6 SMART
WD40 142 180 3.55e-5 SMART
Blast:WD40 243 283 3e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135927
Predicted Effect probably benign
Transcript: ENSMUST00000150403
SMART Domains Protein: ENSMUSP00000119144
Gene: ENSMUSG00000002103

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:His_Phos_2 32 159 4e-35 PFAM
Pfam:His_Phos_2 147 297 5.1e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152277
Meta Mutation Damage Score 0.1435 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mutant mice are prone to both spontaneous and UV-induced skin cancer. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,177,426 (GRCm39) T561I probably benign Het
Akp3 T C 1: 87,054,844 (GRCm39) I393T probably damaging Het
Atxn10 A T 15: 85,277,621 (GRCm39) I363F probably benign Het
BC004004 A T 17: 29,501,709 (GRCm39) S83C probably damaging Het
Bin1 T A 18: 32,559,264 (GRCm39) probably null Het
Cacna1c A G 6: 118,674,641 (GRCm39) I541T probably damaging Het
Cand1 A G 10: 119,046,910 (GRCm39) V860A probably benign Het
Ccdc69 T C 11: 54,945,856 (GRCm39) N50S possibly damaging Het
Cd209d T A 8: 3,921,968 (GRCm39) T235S probably benign Het
Cdhr3 G T 12: 33,096,685 (GRCm39) T591K possibly damaging Het
Cherp C T 8: 73,216,957 (GRCm39) D658N probably damaging Het
Clip4 T A 17: 72,113,494 (GRCm39) probably null Het
Cryzl1 C T 16: 91,492,242 (GRCm39) V195M probably damaging Het
Cst11 A T 2: 148,612,387 (GRCm39) Y83* probably null Het
Ddi2 A T 4: 141,412,901 (GRCm39) L4M probably damaging Het
Dip2b C A 15: 100,055,826 (GRCm39) P393T probably benign Het
Dnmt3a G A 12: 3,935,660 (GRCm39) probably null Het
Elf5 C T 2: 103,279,367 (GRCm39) S196L probably damaging Het
Eps15 C G 4: 109,220,373 (GRCm39) probably null Het
Fra10ac1 T C 19: 38,195,734 (GRCm39) E163G probably benign Het
Gc T C 5: 89,589,125 (GRCm39) T213A probably damaging Het
Grpel1 A T 5: 36,622,503 (GRCm39) probably benign Het
Gsdme G A 6: 50,196,280 (GRCm39) Q377* probably null Het
Hira T C 16: 18,753,768 (GRCm39) probably benign Het
Hsd11b1 T A 1: 192,922,554 (GRCm39) I168F probably damaging Het
Htr6 G A 4: 138,789,015 (GRCm39) R347W probably damaging Het
Ipp A C 4: 116,367,967 (GRCm39) T67P probably damaging Het
Lrfn5 G A 12: 61,886,509 (GRCm39) R99Q probably benign Het
Madd T A 2: 90,998,174 (GRCm39) I649F probably damaging Het
Map2k7 T A 8: 4,295,757 (GRCm39) D368E probably benign Het
Mppe1 T G 18: 67,358,889 (GRCm39) T360P possibly damaging Het
Msi2 A G 11: 88,608,564 (GRCm39) F2L probably damaging Het
Nectin3 T C 16: 46,279,180 (GRCm39) Q266R probably damaging Het
Nfasc T C 1: 132,532,883 (GRCm39) H691R probably benign Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or4c117 T C 2: 88,955,793 (GRCm39) E94G probably benign Het
Or5ac15 TGAAGAAGAA TGAAGAA 16: 58,940,335 (GRCm39) probably benign Het
Papss2 G A 19: 32,638,119 (GRCm39) probably null Het
Pi4ka T C 16: 17,172,736 (GRCm39) K549E probably benign Het
Plekha6 A G 1: 133,208,116 (GRCm39) T596A probably benign Het
Polr2f A G 15: 79,035,845 (GRCm39) D117G probably damaging Het
Psd T C 19: 46,301,178 (GRCm39) E381G possibly damaging Het
Rfx6 G A 10: 51,602,976 (GRCm39) R831H probably damaging Het
Rpp25l A T 4: 41,712,649 (GRCm39) L42Q probably damaging Het
Ryr3 T C 2: 112,583,442 (GRCm39) M2810V probably benign Het
Sdk1 C A 5: 142,129,626 (GRCm39) L1616I probably benign Het
Spock2 T A 10: 59,962,029 (GRCm39) F215I probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tchh A T 3: 93,353,488 (GRCm39) E976V unknown Het
Tgfbr3 T C 5: 107,297,761 (GRCm39) E213G probably benign Het
Tmed1 T C 9: 21,420,619 (GRCm39) D71G probably benign Het
Tmtc4 T A 14: 123,170,565 (GRCm39) K527N possibly damaging Het
Zfhx2 T C 14: 55,311,822 (GRCm39) T291A probably benign Het
Other mutations in Ddb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0054:Ddb2 UTSW 2 91,065,165 (GRCm39) missense probably benign 0.14
R0054:Ddb2 UTSW 2 91,065,165 (GRCm39) missense probably benign 0.14
R1537:Ddb2 UTSW 2 91,065,234 (GRCm39) missense probably benign
R1679:Ddb2 UTSW 2 91,064,595 (GRCm39) missense probably benign 0.00
R1707:Ddb2 UTSW 2 91,064,554 (GRCm39) missense probably damaging 1.00
R2858:Ddb2 UTSW 2 91,047,022 (GRCm39) missense probably damaging 1.00
R4797:Ddb2 UTSW 2 91,067,163 (GRCm39) utr 5 prime probably benign
R4985:Ddb2 UTSW 2 91,042,643 (GRCm39) splice site probably null
R5256:Ddb2 UTSW 2 91,067,073 (GRCm39) missense probably damaging 0.98
R5666:Ddb2 UTSW 2 91,042,926 (GRCm39) missense probably damaging 1.00
R5670:Ddb2 UTSW 2 91,042,926 (GRCm39) missense probably damaging 1.00
R7324:Ddb2 UTSW 2 91,067,229 (GRCm39) start gained probably benign
R8296:Ddb2 UTSW 2 91,042,645 (GRCm39) missense probably damaging 1.00
R9123:Ddb2 UTSW 2 91,064,593 (GRCm39) nonsense probably null
R9125:Ddb2 UTSW 2 91,064,593 (GRCm39) nonsense probably null
R9323:Ddb2 UTSW 2 91,042,337 (GRCm39) missense possibly damaging 0.67
R9326:Ddb2 UTSW 2 91,047,559 (GRCm39) missense probably benign 0.16
R9525:Ddb2 UTSW 2 91,065,180 (GRCm39) missense probably benign
R9556:Ddb2 UTSW 2 91,065,202 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTATCCCTTGTCACAAGTGTCC -3'
(R):5'- TGAATTCACCGTAGCTCTGC -3'

Sequencing Primer
(F):5'- CCTGCTCCAACCCTAAGAATTGG -3'
(R):5'- TATTCGTCCCAGGGCAGTG -3'
Posted On 2016-11-21