Incidental Mutation 'R1679:Ddb2'
ID 188336
Institutional Source Beutler Lab
Gene Symbol Ddb2
Ensembl Gene ENSMUSG00000002109
Gene Name damage specific DNA binding protein 2
Synonyms 2610043A19Rik, p48
MMRRC Submission 039715-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R1679 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 91041917-91067327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91064595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 105 (R105Q)
Ref Sequence ENSEMBL: ENSMUSP00000028696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028696] [ENSMUST00000111352]
AlphaFold Q99J79
Predicted Effect probably benign
Transcript: ENSMUST00000028696
AA Change: R105Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028696
Gene: ENSMUSG00000002109
AA Change: R105Q

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 benign
Transcript: ENSMUST00000111352
SMART Domains Protein: ENSMUSP00000106984
Gene: ENSMUSG00000002109

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: ENSMUST00000135927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181191
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (51/52)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Adam6a A G 12: 113,508,376 (GRCm39) M250V probably benign Het
Adgre5 C A 8: 84,456,034 (GRCm39) R254L probably benign Het
Adgrv1 A T 13: 81,707,671 (GRCm39) L525Q probably damaging Het
Ano9 T A 7: 140,688,210 (GRCm39) I205F probably benign Het
Bmp5 T C 9: 75,746,877 (GRCm39) V245A probably benign Het
Capn8 T C 1: 182,441,032 (GRCm39) S489P probably damaging Het
Ccdc85a A G 11: 28,533,316 (GRCm39) L76P probably damaging Het
Cd164l2 A G 4: 132,948,810 (GRCm39) T49A probably benign Het
Cdc25c T C 18: 34,880,348 (GRCm39) T129A probably damaging Het
Cfap43 T C 19: 47,761,553 (GRCm39) D847G probably benign Het
Crim1 G A 17: 78,508,228 (GRCm39) A11T probably benign Het
Cul9 A T 17: 46,832,082 (GRCm39) L1449H possibly damaging Het
Cyp2a22 T A 7: 26,635,736 (GRCm39) K276* probably null Het
Cyp2c50 C A 19: 40,099,859 (GRCm39) T430K possibly damaging Het
Emilin1 T C 5: 31,077,543 (GRCm39) Y900H probably benign Het
Eml3 T C 19: 8,914,001 (GRCm39) F100L probably damaging Het
Eps8l2 G A 7: 140,940,970 (GRCm39) G542D probably damaging Het
Fbf1 A G 11: 116,041,843 (GRCm39) probably null Het
Gm21886 T C 18: 80,132,954 (GRCm39) Y68C probably damaging Het
H2-Q10 A G 17: 35,784,492 (GRCm39) probably benign Het
Hebp2 G T 10: 18,420,163 (GRCm39) T90K possibly damaging Het
Il1rl2 A G 1: 40,382,320 (GRCm39) T211A probably benign Het
Incenp T C 19: 9,872,778 (GRCm39) D16G unknown Het
Isg20l2 T A 3: 87,839,392 (GRCm39) M201K probably damaging Het
Kansl1 A T 11: 104,314,822 (GRCm39) S405R probably damaging Het
Kdsr T A 1: 106,680,956 (GRCm39) I81F probably benign Het
Leprotl1 T G 8: 34,607,986 (GRCm39) L7F probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mtmr2 T A 9: 13,700,373 (GRCm39) I60K probably damaging Het
Mto1 A G 9: 78,372,245 (GRCm39) T572A probably benign Het
Nipbl G A 15: 8,332,396 (GRCm39) T2287I probably benign Het
Nutm2 A G 13: 50,623,422 (GRCm39) T40A probably benign Het
Nxf1 T C 19: 8,746,438 (GRCm39) S550P probably benign Het
Or5p4 A T 7: 107,680,859 (GRCm39) N286I probably damaging Het
Phactr1 G A 13: 43,210,756 (GRCm39) V193I possibly damaging Het
Phactr1 A T 13: 43,248,257 (GRCm39) Y317F possibly damaging Het
Pih1d1 T C 7: 44,809,250 (GRCm39) probably null Het
Rictor T C 15: 6,797,571 (GRCm39) I309T possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ruvbl2 T C 7: 45,074,391 (GRCm39) D216G probably damaging Het
Slc20a2 T G 8: 23,028,846 (GRCm39) S106A possibly damaging Het
Srprb A G 9: 103,069,406 (GRCm39) probably benign Het
Stx11 A T 10: 12,817,580 (GRCm39) I48N probably damaging Het
Vmn1r29 A T 6: 58,285,003 (GRCm39) Y241F probably damaging Het
Wdfy1 A T 1: 79,685,192 (GRCm39) C347* probably null Het
Zfp683 T C 4: 133,785,956 (GRCm39) V361A possibly damaging 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
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
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'- TCTGGCACATATAGCCACTTACCCC -3'
(R):5'- ACTTCTAGCCACAACATGCGTTCTC -3'

Sequencing Primer
(F):5'- GTCCTTGATGCCAAAGTTCCA -3'
(R):5'- tggcttcagtctcacagaaatc -3'
Posted On 2014-05-09