Incidental Mutation 'R0054:Ddb2'
ID 17268
Institutional Source Beutler Lab
Gene Symbol Ddb2
Ensembl Gene ENSMUSG00000002109
Gene Name damage specific DNA binding protein 2
Synonyms 2610043A19Rik, p48
MMRRC Submission 038348-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R0054 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 91041917-91067327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 91065165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 87 (Q87K)
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: Q87K

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028696
Gene: ENSMUSG00000002109
AA Change: Q87K

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 0.1541 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.6%
  • 10x: 76.3%
  • 20x: 59.9%
Validation Efficiency 96% (91/95)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,547,500 (GRCm39) probably null Het
Apoa4 A G 9: 46,153,822 (GRCm39) D141G probably benign Het
Atg9a T C 1: 75,161,143 (GRCm39) Y701C probably damaging Het
Baz2b C T 2: 59,762,510 (GRCm39) R922Q probably damaging Het
Bmal2 T G 6: 146,731,216 (GRCm39) V507G probably benign Het
Brms1 T A 19: 5,096,727 (GRCm39) C136* probably null Het
Ccdc180 T A 4: 45,890,900 (GRCm39) V24E probably benign Het
Clec4f C T 6: 83,629,911 (GRCm39) V216M probably benign Het
Cpd C G 11: 76,681,664 (GRCm39) G1160R probably damaging Het
Creb5 A G 6: 53,424,642 (GRCm39) M128V probably benign Het
Defb41 A G 1: 18,321,471 (GRCm39) Y48H probably damaging Het
Dido1 T C 2: 180,303,267 (GRCm39) N1546D probably benign Het
Dmac1 A G 4: 75,196,337 (GRCm39) V51A possibly damaging Het
Dnajb11 C T 16: 22,681,369 (GRCm39) A49V probably damaging Het
Dnajc14 G A 10: 128,643,448 (GRCm39) D457N probably damaging Het
Eif3a C A 19: 60,755,264 (GRCm39) D973Y unknown Het
Farsb T A 1: 78,439,011 (GRCm39) K395* probably null Het
Fem1b A G 9: 62,704,082 (GRCm39) S393P probably damaging Het
Fsip2 A C 2: 82,817,299 (GRCm39) N4344T possibly damaging Het
Gphn A G 12: 78,684,277 (GRCm39) S558G probably damaging Het
Gpr142 C A 11: 114,689,755 (GRCm39) H2Q probably benign Het
Grhpr T C 4: 44,988,915 (GRCm39) probably benign Het
Grik3 C A 4: 125,517,368 (GRCm39) N70K probably damaging Het
Gsap T A 5: 21,455,933 (GRCm39) probably benign Het
Iars1 T A 13: 49,846,611 (GRCm39) C237S probably damaging Het
Ighv1-9 A T 12: 114,547,602 (GRCm39) F7L probably benign Het
Ints8 A G 4: 11,204,595 (GRCm39) probably benign Het
Kcnj16 G T 11: 110,915,549 (GRCm39) W70C probably damaging Het
Kpna6 T C 4: 129,551,251 (GRCm39) M85V probably benign Het
Kri1 G A 9: 21,186,661 (GRCm39) S447L probably damaging Het
Lrp1b A G 2: 40,632,829 (GRCm39) V3528A probably benign Het
Lrrc46 A T 11: 96,929,605 (GRCm39) L77Q probably damaging Het
Mrpl44 T C 1: 79,757,212 (GRCm39) L219S probably damaging Het
Ms4a14 T C 19: 11,281,303 (GRCm39) I418M probably benign Het
Myo7a T C 7: 97,714,905 (GRCm39) D112G probably damaging Het
Ncoa3 A G 2: 165,897,098 (GRCm39) T630A possibly damaging Het
Nsl1 T C 1: 190,814,381 (GRCm39) L194P probably damaging Het
Or5ac23 T C 16: 59,149,428 (GRCm39) Y148C possibly damaging Het
Or8u10 T C 2: 85,915,705 (GRCm39) K139E probably benign Het
Pde4d A G 13: 109,876,955 (GRCm39) S159G probably benign Het
Pi4ka T C 16: 17,142,978 (GRCm39) R845G probably null Het
Pld1 A G 3: 28,150,033 (GRCm39) probably benign Het
Psd T A 19: 46,311,781 (GRCm39) I300F probably damaging Het
Ptprz1 T A 6: 22,986,195 (GRCm39) W332R probably damaging Het
Rnf212 T A 5: 108,893,530 (GRCm39) M70L possibly damaging Het
Sema4f A G 6: 82,896,674 (GRCm39) probably benign Het
Sez6 C A 11: 77,844,699 (GRCm39) T7K possibly damaging Het
Skint2 T C 4: 112,502,660 (GRCm39) I290T probably benign Het
Slc5a3 T A 16: 91,874,522 (GRCm39) I193N probably damaging Het
Snip1 T A 4: 124,966,633 (GRCm39) Y354* probably null Het
Tmco5 A G 2: 116,717,768 (GRCm39) Y200C probably damaging Het
Tmem87b T A 2: 128,673,361 (GRCm39) probably benign Het
Trim60 T C 8: 65,453,973 (GRCm39) E92G probably benign Het
Ttn A T 2: 76,626,804 (GRCm39) D13067E possibly damaging Het
Ufl1 A T 4: 25,269,087 (GRCm39) I168N probably damaging Het
Zfp385c G A 11: 100,520,782 (GRCm39) P293S probably benign Het
Zfp473 T A 7: 44,383,899 (GRCm39) S144C probably damaging Het
Other mutations in Ddb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-01-20