Incidental Mutation 'R9326:Ddb2'
ID 706498
Institutional Source Beutler Lab
Gene Symbol Ddb2
Ensembl Gene ENSMUSG00000002109
Gene Name damage specific DNA binding protein 2
Synonyms 2610043A19Rik, p48
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R9326 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 91041917-91067327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91047559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 240 (M240K)
Ref Sequence ENSEMBL: ENSMUSP00000028696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002172] [ENSMUST00000028696] [ENSMUST00000111352]
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 benign
Transcript: ENSMUST00000028696
AA Change: M240K

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028696
Gene: ENSMUSG00000002109
AA Change: M240K

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
AA Change: M104K

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106984
Gene: ENSMUSG00000002109
AA Change: M104K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,849,882 (GRCm39) Y230* probably null Het
Adamts14 A G 10: 61,036,238 (GRCm39) S1015P probably benign Het
Adamts8 A G 9: 30,854,886 (GRCm39) T252A probably benign Het
Adamtsl1 T A 4: 86,150,804 (GRCm39) S149T possibly damaging Het
Afp A G 5: 90,652,205 (GRCm39) K399E probably damaging Het
Atp8b1 T A 18: 64,706,344 (GRCm39) S222C probably damaging Het
Ccdc88c C A 12: 100,995,109 (GRCm39) probably benign Het
Cfap276 C T 3: 108,451,931 (GRCm39) R159W probably damaging Het
Cip2a G A 16: 48,834,235 (GRCm39) probably null Het
Cluh A G 11: 74,554,902 (GRCm39) K780R probably benign Het
Cope C A 8: 70,755,516 (GRCm39) F20L possibly damaging Het
Cps1 G T 1: 67,248,795 (GRCm39) R1174L probably damaging Het
Csmd1 G A 8: 16,049,803 (GRCm39) T2271I probably benign Het
Ctbp2 A G 7: 132,616,359 (GRCm39) I192T probably benign Het
Dcun1d4 A G 5: 73,680,018 (GRCm39) T106A probably benign Het
Ddx20 A T 3: 105,591,735 (GRCm39) V145D probably damaging Het
Ddx31 A G 2: 28,749,008 (GRCm39) D268G probably damaging Het
Drc7 A G 8: 95,801,886 (GRCm39) I716V probably benign Het
Epb41l4a G T 18: 33,961,261 (GRCm39) Y424* probably null Het
Exog A G 9: 119,291,554 (GRCm39) N277S probably damaging Het
Fzd7 T C 1: 59,522,837 (GRCm39) L240P possibly damaging Het
Gpr87 T C 3: 59,086,609 (GRCm39) T299A probably damaging Het
Hecw2 A G 1: 54,079,369 (GRCm39) Y95H probably damaging Het
Idh1 T C 1: 65,205,416 (GRCm39) Y183C probably damaging Het
Ighv14-4 T A 12: 114,140,469 (GRCm39) I7F possibly damaging Het
Il1rap A T 16: 26,495,641 (GRCm39) I83F probably damaging Het
Jag1 A G 2: 136,931,745 (GRCm39) S609P probably benign Het
Klhl33 T C 14: 51,134,615 (GRCm39) E9G possibly damaging Het
Lama2 A G 10: 26,906,193 (GRCm39) F2421L probably benign Het
Lmod2 A T 6: 24,597,999 (GRCm39) I40F probably damaging Het
Lsm5 A T 6: 56,681,616 (GRCm39) L13Q possibly damaging Het
Man2c1 G T 9: 57,042,904 (GRCm39) C258F probably damaging Het
Mgst1 T C 6: 138,120,023 (GRCm39) S28P probably benign Het
Msh3 A T 13: 92,400,307 (GRCm39) V744E probably benign Het
Mtx2 C T 2: 74,656,287 (GRCm39) probably benign Het
N4bp3 C T 11: 51,535,313 (GRCm39) R292H probably benign Het
Neto2 A T 8: 86,369,063 (GRCm39) W354R probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Nutm1 A T 2: 112,078,692 (GRCm39) S1074R possibly damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or10ag56 T A 2: 87,139,730 (GRCm39) M219K probably benign Het
Or5aq1 T C 2: 86,966,647 (GRCm39) H6R probably benign Het
Or7g29 A T 9: 19,286,346 (GRCm39) M277K probably damaging Het
Or8s8 T C 15: 98,354,935 (GRCm39) V248A probably damaging Het
Pi4kb T A 3: 94,900,506 (GRCm39) probably null Het
Rgsl1 C T 1: 153,679,768 (GRCm39) D103N probably benign Het
Rrbp1 G A 2: 143,806,744 (GRCm39) T958M probably damaging Het
S100a13 G T 3: 90,423,170 (GRCm39) D54Y unknown Het
Setd2 T C 9: 110,378,671 (GRCm39) C829R probably benign Het
Snd1 A T 6: 28,795,842 (GRCm39) R562* probably null Het
Snx27 A T 3: 94,409,369 (GRCm39) Y526N probably damaging Het
Stab2 A G 10: 86,791,010 (GRCm39) L483P probably damaging Het
Sybu A G 15: 44,537,019 (GRCm39) S436P probably damaging Het
Thy1 A G 9: 43,957,983 (GRCm39) D37G probably damaging Het
Tmed8 A T 12: 87,221,395 (GRCm39) I126N probably damaging Het
Tmem161b T A 13: 84,440,602 (GRCm39) L340* probably null Het
Tpr C T 1: 150,301,407 (GRCm39) A1331V possibly damaging Het
Tprg1 G A 16: 25,136,107 (GRCm39) E33K probably benign Het
Vps26b T C 9: 26,930,627 (GRCm39) N123D probably damaging Het
Wdr7 G A 18: 63,872,260 (GRCm39) S398N probably benign Het
Zbtb48 T C 4: 152,111,509 (GRCm39) D2G probably damaging Het
Zfp975 G A 7: 42,311,837 (GRCm39) R259* probably null Het
Zfp986 T A 4: 145,626,451 (GRCm39) H370Q probably 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
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
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'- TGGGATGTCACACCTGCATTG -3'
(R):5'- CGAAGGGTCTTACAGCACAC -3'

Sequencing Primer
(F):5'- GTCACACCTGCATTGACAGGATG -3'
(R):5'- GAAGGGTCTTACAGCACACTCTCTC -3'
Posted On 2022-04-18