Incidental Mutation 'R2156:Ercc2'
ID 234813
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 040159-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2156 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 19115942-19129619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19120717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 206 (R206H)
Ref Sequence ENSEMBL: ENSMUSP00000104100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062831] [ENSMUST00000108460] [ENSMUST00000108461]
AlphaFold O08811
Predicted Effect possibly damaging
Transcript: ENSMUST00000062831
AA Change: R227H

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054380
Gene: ENSMUSG00000030400
AA Change: R227H

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: R206H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104100
Gene: ENSMUSG00000030400
AA Change: R206H

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 unknown
Transcript: ENSMUST00000129249
AA Change: R150H
SMART Domains Protein: ENSMUSP00000117840
Gene: ENSMUSG00000030400
AA Change: R150H

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: ENSMUST00000180691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136055
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T A 11: 58,313,134 (GRCm39) probably null Het
Acaa2 T C 18: 74,926,476 (GRCm39) probably null Het
Adam7 T C 14: 68,748,792 (GRCm39) Q485R probably benign Het
Adcy4 T G 14: 56,006,627 (GRCm39) T1069P probably benign Het
Arsj T C 3: 126,232,337 (GRCm39) L361P probably damaging Het
Birc2 A C 9: 7,826,939 (GRCm39) L349R probably damaging Het
C1qa T C 4: 136,623,727 (GRCm39) Y159C probably damaging Het
Cdh13 A G 8: 119,963,703 (GRCm39) K428E probably damaging Het
Cenpe T C 3: 134,953,235 (GRCm39) M1563T probably benign Het
Col10a1 T C 10: 34,271,696 (GRCm39) V556A probably benign Het
Creg2 G A 1: 39,662,338 (GRCm39) L265F probably damaging Het
Cyp1a2 T A 9: 57,589,433 (GRCm39) D127V probably damaging Het
Cyp3a44 A T 5: 145,740,480 (GRCm39) Y53* probably null Het
Cyth1 C T 11: 118,073,634 (GRCm39) R233Q probably damaging Het
Dnmbp G A 19: 43,890,346 (GRCm39) H474Y possibly damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Evx2 T A 2: 74,486,360 (GRCm39) H343L probably damaging Het
Fcrl2 T A 3: 87,164,648 (GRCm39) I293F probably benign Het
Gcnt4 A G 13: 97,082,974 (GRCm39) E90G probably damaging Het
Gid8 T G 2: 180,358,751 (GRCm39) C139G probably benign Het
Gm11938 C A 11: 99,493,933 (GRCm39) C54F probably damaging Het
Gm3336 G A 8: 71,174,509 (GRCm39) V158I probably benign Het
Gucy1b1 T C 3: 81,968,327 (GRCm39) N60D probably benign Het
Hdac7 T C 15: 97,691,944 (GRCm39) K810E probably benign Het
Hsp90ab1 A G 17: 45,880,629 (GRCm39) F361L possibly damaging Het
Igf2bp3 A T 6: 49,085,858 (GRCm39) probably null Het
Inpp4b T A 8: 82,775,118 (GRCm39) I772N probably damaging Het
Iqca1 A G 1: 90,017,238 (GRCm39) L390P possibly damaging Het
Itgb2 C T 10: 77,396,082 (GRCm39) R586W probably benign Het
Itih1 A G 14: 30,655,432 (GRCm39) S588P possibly damaging Het
Iyd T A 10: 3,497,166 (GRCm39) probably null Het
Kl A G 5: 150,912,425 (GRCm39) K725E probably benign Het
Layn T A 9: 50,968,697 (GRCm39) M349L probably benign Het
Map3k5 T C 10: 19,900,683 (GRCm39) Y286H probably damaging Het
Med4 C T 14: 73,755,472 (GRCm39) probably benign Het
Mfn1 T A 3: 32,588,400 (GRCm39) N42K possibly damaging Het
Mindy2 T C 9: 70,563,874 (GRCm39) D152G probably benign Het
Mrc2 A G 11: 105,238,682 (GRCm39) probably null Het
Mrpl11 C A 19: 5,012,497 (GRCm39) A26E probably damaging Het
Msh6 G A 17: 88,293,568 (GRCm39) W774* probably null Het
Mtch1 A T 17: 29,561,841 (GRCm39) V121E probably damaging Het
Mtg2 G T 2: 179,725,923 (GRCm39) E178* probably null Het
Nbas A T 12: 13,491,510 (GRCm39) N1461Y probably damaging Het
Ndfip2 A G 14: 105,525,204 (GRCm39) T65A probably benign Het
Ninl G T 2: 150,786,503 (GRCm39) Q1146K probably damaging Het
Notch1 T C 2: 26,350,873 (GRCm39) D2089G possibly damaging Het
Notch3 C T 17: 32,366,818 (GRCm39) V906M probably damaging Het
Or51l14 A G 7: 103,101,371 (GRCm39) I276V probably benign Het
Or6b6 A G 7: 106,570,775 (GRCm39) Y259H probably damaging Het
Osmr A T 15: 6,873,891 (GRCm39) Y169N probably benign Het
Ovgp1 T C 3: 105,885,033 (GRCm39) V124A possibly damaging Het
P2rx1 T C 11: 72,904,939 (GRCm39) M369T probably benign Het
Pde4dip T C 3: 97,631,534 (GRCm39) Q1125R probably damaging Het
Podn A T 4: 107,878,892 (GRCm39) V180E probably damaging Het
Pold1 A T 7: 44,188,542 (GRCm39) V475E probably damaging Het
Polg A G 7: 79,111,468 (GRCm39) I261T possibly damaging Het
Satb1 G T 17: 52,047,438 (GRCm39) Q595K probably benign Het
Scaf8 T A 17: 3,214,407 (GRCm39) probably null Het
Semp2l1 T A 1: 32,585,128 (GRCm39) M261L probably benign Het
Serpinb3a C T 1: 106,975,202 (GRCm39) probably null Het
Slc22a26 T C 19: 7,779,480 (GRCm39) D112G probably damaging Het
Slc25a23 A G 17: 57,352,562 (GRCm39) F441L probably benign Het
Slc25a53 T C X: 135,884,216 (GRCm39) T42A probably damaging Het
Slc6a15 T C 10: 103,229,269 (GRCm39) Y103H probably damaging Het
Slx4 A G 16: 3,804,223 (GRCm39) S864P probably benign Het
Snap91 T C 9: 86,707,130 (GRCm39) E220G probably damaging Het
Spam1 T C 6: 24,796,267 (GRCm39) F73L probably damaging Het
Sphkap C T 1: 83,255,710 (GRCm39) V393M probably benign Het
Spred2 T C 11: 19,971,241 (GRCm39) Y370H probably damaging Het
Sqle T C 15: 59,195,578 (GRCm39) probably null Het
Srrm2 A G 17: 24,037,237 (GRCm39) T1390A probably benign Het
Tas1r2 A G 4: 139,396,352 (GRCm39) R564G possibly damaging Het
Tbl2 G T 5: 135,185,374 (GRCm39) probably null Het
Tcof1 T C 18: 60,964,901 (GRCm39) D606G possibly damaging Het
Tdpoz3 T A 3: 93,734,087 (GRCm39) L254H probably damaging Het
Trpm1 A T 7: 63,884,736 (GRCm39) I806F probably damaging Het
Ttc22 A G 4: 106,496,237 (GRCm39) D429G probably benign Het
Ube2o C A 11: 116,471,972 (GRCm39) G90C probably damaging Het
Usp34 T A 11: 23,332,602 (GRCm39) F1110I probably damaging Het
Vmn2r82 T C 10: 79,214,722 (GRCm39) L235P probably damaging Het
Vps35 A G 8: 86,013,129 (GRCm39) V116A probably benign Het
Wdfy3 A G 5: 102,046,291 (GRCm39) probably null Het
Zeb2 T C 2: 44,878,821 (GRCm39) K1138E probably benign Het
Zfp513 G A 5: 31,357,866 (GRCm39) T169I probably benign Het
Zfp629 T C 7: 127,211,551 (GRCm39) D86G probably benign 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
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
R4869:Ercc2 UTSW 7 19,120,732 (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'- TTGTGGCACCTCTGTGTACC -3'
(R):5'- CTGAGCACGGTCTTCTGTAG -3'

Sequencing Primer
(F):5'- CACCTCTGTGTACCTGGGATAGAG -3'
(R):5'- TCTGGCAACGGTCCAGAGTC -3'
Posted On 2014-10-01