Incidental Mutation 'R5666:Ddb2'
ID 444399
Institutional Source Beutler Lab
Gene Symbol Ddb2
Ensembl Gene ENSMUSG00000002109
Gene Name damage specific DNA binding protein 2
Synonyms 2610043A19Rik, p48
MMRRC Submission 043309-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R5666 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 91041917-91067327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91042926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 353 (V353M)
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 probably damaging
Transcript: ENSMUST00000028696
AA Change: V353M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028696
Gene: ENSMUSG00000002109
AA Change: V353M

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 probably damaging
Transcript: ENSMUST00000111352
AA Change: V217M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106984
Gene: ENSMUSG00000002109
AA Change: V217M

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik T C 5: 100,127,068 (GRCm39) probably benign Het
Abce1 C A 8: 80,416,906 (GRCm39) E368D probably benign Het
Becn2 C T 1: 175,749,179 (GRCm39) T415M probably damaging Het
Bmper T A 9: 23,384,759 (GRCm39) M588K probably damaging Het
Bop1 T C 15: 76,338,433 (GRCm39) E503G probably benign Het
Btla A T 16: 45,070,782 (GRCm39) D247V probably damaging Het
Cap2 T A 13: 46,684,559 (GRCm39) probably null Het
Chd2 A T 7: 73,091,465 (GRCm39) I1592K probably benign Het
Chd3 T C 11: 69,244,177 (GRCm39) E1202G possibly damaging Het
Cmya5 T C 13: 93,182,457 (GRCm39) I3568V possibly damaging Het
Col4a4 A G 1: 82,463,300 (GRCm39) probably null Het
Cpxm2 C T 7: 131,656,625 (GRCm39) E546K probably benign Het
Cyp2j5 C T 4: 96,546,930 (GRCm39) V195I probably benign Het
Dscam G A 16: 96,519,364 (GRCm39) T791I probably benign Het
Dtd2 T A 12: 52,046,643 (GRCm39) L65F probably damaging Het
E2f1 T A 2: 154,411,101 (GRCm39) probably benign Het
Ephb3 A G 16: 21,041,241 (GRCm39) N732S probably benign Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Foxm1 C T 6: 128,350,130 (GRCm39) S339L possibly damaging Het
Fzd6 A T 15: 38,894,510 (GRCm39) R225S probably benign Het
Gfpt1 A T 6: 87,030,795 (GRCm39) I60F possibly damaging Het
Glce A G 9: 61,967,793 (GRCm39) S453P probably damaging Het
Gm4787 G A 12: 81,424,805 (GRCm39) T451I probably benign Het
Hs2st1 A T 3: 144,275,554 (GRCm39) V22E probably damaging Het
Hspa9 T C 18: 35,087,300 (GRCm39) I2V probably null Het
Ikzf2 A G 1: 69,617,059 (GRCm39) V96A probably benign Het
Ilkap T C 1: 91,318,863 (GRCm39) T38A probably benign Het
Lpin3 A G 2: 160,739,250 (GRCm39) T353A probably benign Het
Myh1 T A 11: 67,112,178 (GRCm39) I1744N probably benign Het
Nadsyn1 C T 7: 143,361,168 (GRCm39) G335S probably damaging Het
Ndc1 T C 4: 107,246,723 (GRCm39) V382A possibly damaging Het
Ndufaf4 A T 4: 24,898,636 (GRCm39) D64V probably damaging Het
Nfe2l2 T C 2: 75,507,462 (GRCm39) T213A probably benign Het
Nkain4 A G 2: 180,584,995 (GRCm39) L73P probably damaging Het
Nmt1 C T 11: 102,949,041 (GRCm39) R299* probably null Het
Or1j20 T A 2: 36,760,401 (GRCm39) D274E probably benign Het
Or2y8 A C 11: 52,035,525 (GRCm39) Y277* probably null Het
Or4b12 T C 2: 90,096,308 (GRCm39) I155M probably benign Het
Or5k1 G A 16: 58,617,424 (GRCm39) P262S possibly damaging Het
Padi2 G T 4: 140,676,542 (GRCm39) R560L possibly damaging Het
Palmd T C 3: 116,717,750 (GRCm39) N249S possibly damaging Het
Pde1c A C 6: 56,103,842 (GRCm39) probably null Het
Pdgfra T C 5: 75,334,156 (GRCm39) S410P probably benign Het
Phldb1 T C 9: 44,627,078 (GRCm39) M456V probably damaging Het
Pla2g2d T A 4: 138,507,591 (GRCm39) C82S probably damaging Het
Rgs21 A G 1: 144,412,680 (GRCm39) V48A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Slc4a2 G T 5: 24,639,836 (GRCm39) V506L probably damaging Het
Slc7a4 A G 16: 17,393,815 (GRCm39) probably benign Het
Sptbn5 C G 2: 119,916,048 (GRCm39) probably benign Het
Sstr2 T A 11: 113,515,539 (GRCm39) W153R probably damaging Het
Steap2 C T 5: 5,723,681 (GRCm39) V400I probably benign Het
Syne2 G A 12: 75,997,733 (GRCm39) G2236D probably benign Het
Tas2r130 T C 6: 131,607,342 (GRCm39) N151S possibly damaging Het
Tex52 T C 6: 128,352,518 (GRCm39) S13P probably benign Het
Tmprss13 A G 9: 45,256,253 (GRCm39) I456V probably damaging Het
Trim24 T C 6: 37,942,536 (GRCm39) F946S probably benign Het
Vmn2r10 A T 5: 109,146,910 (GRCm39) Y459* probably null Het
Vwa1 A G 4: 155,858,922 (GRCm39) L13P probably damaging Het
Zfp648 C A 1: 154,079,963 (GRCm39) Q41K 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
R5670:Ddb2 UTSW 2 91,042,926 (GRCm39) missense probably damaging 1.00
R5768:Ddb2 UTSW 2 91,042,337 (GRCm39) missense possibly damaging 0.67
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'- ATGAGAAATTCCCTGCTTCCTC -3'
(R):5'- TCTGCCACAGAACTGGATATCC -3'

Sequencing Primer
(F):5'- CTCCCATCACTGTTTGGGGG -3'
(R):5'- ATAGCTAGCAAGTTCTGGGCATCC -3'
Posted On 2016-11-09