Incidental Mutation 'R4869:Ercc2'
ID 376405
Institutional Source Beutler Lab
Gene Symbol Ercc2
Ensembl Gene ENSMUSG00000030400
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 2
Synonyms RCO015, Ercc-2, Mhdarco15, XPD
MMRRC Submission 042479-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4869 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 19115942-19129619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19120732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 155 (V155A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062831] [ENSMUST00000108460] [ENSMUST00000108461]
AlphaFold O08811
Predicted Effect possibly damaging
Transcript: ENSMUST00000062831
AA Change: V232A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054380
Gene: ENSMUSG00000030400
AA Change: V232A

DomainStartEndE-ValueType
DEXDc 8 280 1.62e-144 SMART
Blast:DEXDc2 340 369 3e-10 BLAST
Blast:DEXDc 412 467 9e-27 BLAST
HELICc 542 686 1.32e-76 SMART
low complexity region 733 751 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102360
Predicted Effect possibly damaging
Transcript: ENSMUST00000108460
AA Change: V211A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104100
Gene: ENSMUSG00000030400
AA Change: V211A

DomainStartEndE-ValueType
DEXDc 8 259 1.7e-120 SMART
Blast:DEXDc2 319 348 3e-10 BLAST
Blast:DEXDc 391 446 8e-27 BLAST
HELICc 521 665 1.32e-76 SMART
low complexity region 712 730 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108461
SMART Domains Protein: ENSMUSP00000104101
Gene: ENSMUSG00000030400

DomainStartEndE-ValueType
Pfam:DUF1227 16 161 4.5e-60 PFAM
Blast:HELICc2 193 262 1e-40 BLAST
HELICc 290 434 1.32e-76 SMART
low complexity region 481 499 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128167
Predicted Effect probably damaging
Transcript: ENSMUST00000129249
AA Change: V155A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117840
Gene: ENSMUSG00000030400
AA Change: V155A

DomainStartEndE-ValueType
DEXDc 10 204 1.14e-71 SMART
Blast:DEXDc2 264 293 2e-10 BLAST
Blast:DEXDc 336 391 5e-27 BLAST
HELICc 466 610 1.32e-76 SMART
low complexity region 657 675 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136055
Meta Mutation Damage Score 0.7653 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 99% (102/103)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,161,488 (GRCm39) K943N probably damaging Het
Abca13 G A 11: 9,265,434 (GRCm39) probably null Het
Ankub1 A G 3: 57,597,751 (GRCm39) L73P probably damaging Het
Birc6 A G 17: 74,893,007 (GRCm39) I982V probably benign Het
Cabyr G T 18: 12,884,875 (GRCm39) *454L probably null Het
Ccdc57 C T 11: 120,794,344 (GRCm39) probably null Het
Cd209c A G 8: 3,994,077 (GRCm39) F128L probably benign Het
Cdh23 A T 10: 60,212,713 (GRCm39) I1566N probably damaging Het
Cdon T C 9: 35,364,200 (GRCm39) V106A possibly damaging Het
Cebpa G T 7: 34,819,246 (GRCm39) G135C probably damaging Het
Cfap65 A G 1: 74,958,420 (GRCm39) S896P probably benign Het
Ciz1 T C 2: 32,254,247 (GRCm39) S63P probably damaging Het
Clybl G A 14: 122,621,618 (GRCm39) V269M probably damaging Het
Ctnnb1 G T 9: 120,782,060 (GRCm39) V358L possibly damaging Het
Cwh43 G T 5: 73,586,016 (GRCm39) probably null Het
Cyp2d10 G A 15: 82,287,967 (GRCm39) R379C probably benign Het
Dab2ip C A 2: 35,610,049 (GRCm39) R727S probably damaging Het
Dmrt1 T A 19: 25,483,219 (GRCm39) M1K probably null Het
Dock1 A T 7: 134,335,800 (GRCm39) I65F probably damaging Het
Exph5 A C 9: 53,287,539 (GRCm39) D1540A possibly damaging Het
Fat3 T A 9: 16,288,773 (GRCm39) H250L probably damaging Het
Fbxw10 C A 11: 62,753,557 (GRCm39) A517E probably damaging Het
Furin A T 7: 80,046,727 (GRCm39) N176K probably damaging Het
Gabrb3 A G 7: 57,442,207 (GRCm39) probably benign Het
Gabrg2 A T 11: 41,811,231 (GRCm39) S305T probably damaging Het
Gas6 G T 8: 13,525,086 (GRCm39) S299R possibly damaging Het
Gga3 G T 11: 115,477,111 (GRCm39) probably benign Het
Gle1 A G 2: 29,826,032 (GRCm39) E37G possibly damaging Het
Gm7964 A G 7: 83,405,350 (GRCm39) D80G possibly damaging Het
Gne C T 4: 44,055,204 (GRCm39) probably null Het
Grid2 G T 6: 64,406,724 (GRCm39) G695W probably damaging Het
H2-M10.6 A T 17: 37,123,425 (GRCm39) M40L probably benign Het
Hectd4 G T 5: 121,460,735 (GRCm39) V905L possibly damaging Het
Isyna1 C A 8: 71,049,412 (GRCm39) S441R possibly damaging Het
Kcnh3 C T 15: 99,139,913 (GRCm39) S933L probably benign Het
Knl1 T C 2: 118,902,832 (GRCm39) I1511T possibly damaging Het
Krt73 T C 15: 101,704,833 (GRCm39) E351G probably damaging Het
Lipo4 C T 19: 33,478,953 (GRCm39) probably null Het
Llgl1 T A 11: 60,598,036 (GRCm39) L360* probably null Het
Map2k5 G A 9: 63,229,525 (GRCm39) R169* probably null Het
Muc19 A T 15: 91,781,910 (GRCm39) noncoding transcript Het
Muc4 G A 16: 32,754,836 (GRCm38) probably benign Het
Myh4 A G 11: 67,143,490 (GRCm39) E1074G probably damaging Het
Naip5 C T 13: 100,381,639 (GRCm39) G210E probably damaging Het
Nalcn A G 14: 123,837,296 (GRCm39) S23P probably benign Het
Nepro T A 16: 44,550,536 (GRCm39) M176K probably damaging Het
Nlrp6 G A 7: 140,504,006 (GRCm39) C704Y probably damaging Het
Notch1 A G 2: 26,361,191 (GRCm39) S1100P probably benign Het
Nrxn3 A G 12: 88,762,352 (GRCm39) E133G possibly damaging Het
Obi1 A G 14: 104,716,252 (GRCm39) I707T probably damaging Het
Parp9 T C 16: 35,777,274 (GRCm39) L406S probably damaging Het
Peak1 G T 9: 56,134,876 (GRCm39) A155D probably benign Het
Piezo1 G A 8: 123,214,284 (GRCm39) H1628Y probably benign Het
Piwil2 A G 14: 70,632,811 (GRCm39) V587A probably benign Het
Pkn2 A G 3: 142,509,379 (GRCm39) Y722H probably damaging Het
Plch2 A T 4: 155,073,885 (GRCm39) I834K probably benign Het
Pld1 A G 3: 28,163,951 (GRCm39) T795A possibly damaging Het
Plekhh1 A G 12: 79,097,160 (GRCm39) S103G probably benign Het
Ppl T C 16: 4,922,753 (GRCm39) Y246C probably damaging Het
Prpf40b G A 15: 99,207,726 (GRCm39) probably benign Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp3 T A 4: 59,524,443 (GRCm39) I28F possibly damaging Het
Ptrh2 A T 11: 86,580,631 (GRCm39) K83* probably null Het
Rai1 T C 11: 60,077,588 (GRCm39) S551P probably damaging Het
Rapgefl1 A T 11: 98,741,935 (GRCm39) Q633L probably damaging Het
Rb1cc1 T C 1: 6,285,245 (GRCm39) probably benign Het
Rif1 T A 2: 51,983,623 (GRCm39) probably benign Het
Rnf141 A G 7: 110,424,557 (GRCm39) Y101H probably damaging Het
Rttn T A 18: 89,061,138 (GRCm39) L1102* probably null Het
Sall4 G A 2: 168,597,637 (GRCm39) S401F probably damaging Het
Saxo5 G A 8: 3,537,148 (GRCm39) S498N probably damaging Het
Sec11c T C 18: 65,934,541 (GRCm39) I36T probably benign Het
Sel1l A G 12: 91,780,828 (GRCm39) probably benign Het
Setd1a T C 7: 127,396,776 (GRCm39) probably benign Het
Sez6l2 C T 7: 126,561,014 (GRCm39) P433L probably benign Het
Sgf29 T C 7: 126,248,547 (GRCm39) probably benign Het
Slc47a1 A G 11: 61,253,520 (GRCm39) V305A probably benign Het
Slco1a8 T C 6: 141,933,492 (GRCm39) D431G probably damaging Het
Sun2 T C 15: 79,612,587 (GRCm39) probably benign Het
Tecta T C 9: 42,286,830 (GRCm39) S609G probably benign Het
Tmprss6 T A 15: 78,327,880 (GRCm39) probably null Het
Tns1 T C 1: 73,991,774 (GRCm39) H968R probably benign Het
Tomm34 G A 2: 163,896,637 (GRCm39) A270V probably damaging Het
Tpo T C 12: 30,153,364 (GRCm39) K330R probably benign Het
Ttn T A 2: 76,542,837 (GRCm39) Y33383F probably damaging Het
Unc13c G T 9: 73,587,716 (GRCm39) A1439D probably benign Het
Vcp C T 4: 42,993,691 (GRCm39) R147H probably benign Het
Vps13d A G 4: 144,854,612 (GRCm39) L2272P probably damaging Het
Wdfy3 A G 5: 102,042,787 (GRCm39) L1988P probably damaging Het
Wwc2 A G 8: 48,373,713 (GRCm39) F51S probably damaging Het
Zfp454 C T 11: 50,763,980 (GRCm39) C373Y probably damaging Het
Zfp853 A T 5: 143,274,048 (GRCm39) V473E probably damaging Het
Zfp959 A T 17: 56,204,228 (GRCm39) R85S possibly damaging Het
Other mutations in Ercc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Ercc2 APN 7 19,124,342 (GRCm39) missense probably benign 0.03
IGL01767:Ercc2 APN 7 19,124,346 (GRCm39) missense probably damaging 1.00
IGL01810:Ercc2 APN 7 19,127,374 (GRCm39) missense probably damaging 1.00
IGL02485:Ercc2 APN 7 19,127,970 (GRCm39) missense possibly damaging 0.83
IGL02891:Ercc2 APN 7 19,127,211 (GRCm39) missense probably damaging 1.00
IGL03010:Ercc2 APN 7 19,125,491 (GRCm39) missense possibly damaging 0.89
R0304:Ercc2 UTSW 7 19,120,633 (GRCm39) missense possibly damaging 0.75
R0512:Ercc2 UTSW 7 19,127,812 (GRCm39) missense probably damaging 0.99
R1467:Ercc2 UTSW 7 19,119,811 (GRCm39) missense probably benign 0.05
R1467:Ercc2 UTSW 7 19,119,811 (GRCm39) missense probably benign 0.05
R1600:Ercc2 UTSW 7 19,119,866 (GRCm39) missense probably benign 0.00
R1636:Ercc2 UTSW 7 19,121,049 (GRCm39) missense possibly damaging 0.94
R2156:Ercc2 UTSW 7 19,120,717 (GRCm39) missense possibly damaging 0.95
R2446:Ercc2 UTSW 7 19,120,869 (GRCm39) missense probably damaging 0.97
R4458:Ercc2 UTSW 7 19,127,771 (GRCm39) missense probably damaging 1.00
R5861:Ercc2 UTSW 7 19,128,066 (GRCm39) missense possibly damaging 0.91
R6960:Ercc2 UTSW 7 19,127,615 (GRCm39) missense probably damaging 0.98
R7301:Ercc2 UTSW 7 19,128,060 (GRCm39) missense probably benign 0.09
R7354:Ercc2 UTSW 7 19,127,579 (GRCm39) missense possibly damaging 0.91
R8485:Ercc2 UTSW 7 19,122,165 (GRCm39) missense possibly damaging 0.89
R9521:Ercc2 UTSW 7 19,125,899 (GRCm39) missense probably damaging 0.99
R9574:Ercc2 UTSW 7 19,124,060 (GRCm39) missense probably benign 0.02
Z1176:Ercc2 UTSW 7 19,119,593 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGTGGCACCTCTGTGTAC -3'
(R):5'- TGAGCACGGTCTTCTGTAGG -3'

Sequencing Primer
(F):5'- CACCTCTGTGTACCTGGGATAGAG -3'
(R):5'- TCTGGCAACGGTCCAGAGTC -3'
Posted On 2016-03-17