Incidental Mutation 'R2198:Rad23b'
ID 238480
Institutional Source Beutler Lab
Gene Symbol Rad23b
Ensembl Gene ENSMUSG00000028426
Gene Name RAD23 homolog B, nucleotide excision repair protein
Synonyms mHR23B, 0610007D13Rik
MMRRC Submission 040200-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2198 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 55350043-55392237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55385497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 345 (G345R)
Ref Sequence ENSEMBL: ENSMUSP00000030134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030134]
AlphaFold P54728
PDB Structure The Mouse PNGase-HR23 Complex Reveals a Complete Remodulation of the Protein-Protein Interface Compared to its Yeast Orthologs [X-RAY DIFFRACTION]
The Mouse PNGase-HR23 Complex Reveals a Complete Remodulation of the Protein-Protein Interface Compared to its Yeast Orthologs [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030134
AA Change: G345R

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030134
Gene: ENSMUSG00000028426
AA Change: G345R

DomainStartEndE-ValueType
UBQ 1 75 8.79e-24 SMART
low complexity region 79 143 N/A INTRINSIC
UBA 190 227 3.1e-11 SMART
low complexity region 257 270 N/A INTRINSIC
STI1 274 317 3.37e-10 SMART
UBA 373 410 6.35e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156263
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (60/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a disruption in this gene usually die around the time of birth. Those that survive show growth retardation, eye, reproductive, behavioral, and digestive system abnormalities. They usually die within 1 year of birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a T C 14: 66,875,385 (GRCm39) I120T probably damaging Het
Akr1c21 C T 13: 4,627,464 (GRCm39) P186L probably damaging Het
Alpk2 T C 18: 65,483,255 (GRCm39) K251R probably benign Het
Ank2 T C 3: 126,728,226 (GRCm39) E789G possibly damaging Het
Bag3 AAAGG AAAGGAAGG 7: 128,147,493 (GRCm39) probably null Het
Cacna2d4 T C 6: 119,324,220 (GRCm39) probably benign Het
Carf G A 1: 60,180,643 (GRCm39) R355H probably damaging Het
Cdh20 A T 1: 104,875,047 (GRCm39) probably null Het
Celf6 G T 9: 59,510,622 (GRCm39) L169F possibly damaging Het
Cep295nl A T 11: 118,223,419 (GRCm39) I475N probably benign Het
Chdh T A 14: 29,753,489 (GRCm39) S133T possibly damaging Het
Cnot6l C T 5: 96,227,800 (GRCm39) D478N possibly damaging Het
Ctnna3 C A 10: 64,838,524 (GRCm39) T867K probably benign Het
Ctse T G 1: 131,600,185 (GRCm39) Y311* probably null Het
Ddx60 T A 8: 62,411,097 (GRCm39) M453K possibly damaging Het
Dnah9 A G 11: 65,750,325 (GRCm39) F3927L possibly damaging Het
Dsg4 T C 18: 20,594,499 (GRCm39) S543P probably benign Het
Dspp A T 5: 104,323,567 (GRCm39) T237S probably benign Het
Eml6 T G 11: 29,800,935 (GRCm39) H357P probably benign Het
Epha3 T C 16: 63,664,507 (GRCm39) I38V possibly damaging Het
Erap1 C T 13: 74,794,806 (GRCm39) T155I probably damaging Het
Erh T C 12: 80,689,559 (GRCm39) probably benign Het
F5 A T 1: 164,034,603 (GRCm39) K1834M probably damaging Het
Fyn A G 10: 39,405,541 (GRCm39) E269G probably benign Het
Gm4884 A G 7: 40,690,229 (GRCm39) T42A probably benign Het
Grm1 T G 10: 10,658,520 (GRCm39) R323S probably damaging Het
Gstt4 T C 10: 75,658,235 (GRCm39) D8G probably damaging Het
Gvin-ps3 T A 7: 105,682,758 (GRCm39) M166L probably benign Het
Ldlr A G 9: 21,643,698 (GRCm39) D94G probably damaging Het
Mrpl54 G A 10: 81,101,575 (GRCm39) probably null Het
Naip2 A T 13: 100,289,100 (GRCm39) F1210Y probably damaging Het
Nifk A G 1: 118,257,130 (GRCm39) R88G probably benign Het
Nlgn1 C T 3: 25,487,925 (GRCm39) M803I probably damaging Het
Or2r11 A G 6: 42,437,950 (GRCm39) M1T probably null Het
Or2y16 C T 11: 49,334,786 (GRCm39) S36F probably benign Het
Or6c88 T A 10: 129,406,915 (GRCm39) Y130* probably null Het
Or8g18 G A 9: 39,149,048 (GRCm39) T224I possibly damaging Het
Pip4k2a A T 2: 18,852,466 (GRCm39) M272K probably damaging Het
Ppp1cb G T 5: 32,640,704 (GRCm39) C139F probably damaging Het
Shc4 A T 2: 125,481,266 (GRCm39) V548E possibly damaging Het
Slc26a9 A G 1: 131,691,001 (GRCm39) probably benign Het
Slc8a1 T A 17: 81,715,685 (GRCm39) K783* probably null Het
Sobp A C 10: 42,898,520 (GRCm39) I355S possibly damaging Het
Thbs4 A G 13: 92,899,779 (GRCm39) Y491H possibly damaging Het
Tle2 T C 10: 81,426,147 (GRCm39) V727A probably damaging Het
Tmprss9 C T 10: 80,723,293 (GRCm39) P251L probably damaging Het
Tnks A T 8: 35,315,803 (GRCm39) D994E probably benign Het
Tnks C T 8: 35,340,221 (GRCm39) D466N probably benign Het
Tonsl A G 15: 76,520,872 (GRCm39) F394L probably benign Het
Trpa1 T A 1: 14,980,970 (GRCm39) Y144F probably benign Het
Usp22 A G 11: 61,050,163 (GRCm39) F324S probably damaging Het
Vmn1r78 G T 7: 11,886,487 (GRCm39) V33F probably benign Het
Wdr81 C T 11: 75,336,907 (GRCm39) R1494Q probably benign Het
Wdr87-ps G T 7: 29,226,697 (GRCm39) noncoding transcript Het
Zc3h14 G A 12: 98,719,068 (GRCm39) M144I probably damaging Het
Zc3h14 G A 12: 98,719,069 (GRCm39) V145M possibly damaging Het
Zfp82 T C 7: 29,756,936 (GRCm39) T49A probably benign Het
Other mutations in Rad23b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Rad23b APN 4 55,366,774 (GRCm39) splice site probably benign
IGL01326:Rad23b APN 4 55,383,601 (GRCm39) missense possibly damaging 0.95
IGL02398:Rad23b APN 4 55,350,360 (GRCm39) utr 5 prime probably benign
IGL02506:Rad23b APN 4 55,382,511 (GRCm39) missense probably benign 0.01
IGL02538:Rad23b APN 4 55,370,457 (GRCm39) missense possibly damaging 0.67
Saguaro UTSW 4 55,370,474 (GRCm39) critical splice donor site probably null
R0278:Rad23b UTSW 4 55,383,575 (GRCm39) splice site probably null
R1846:Rad23b UTSW 4 55,383,637 (GRCm39) nonsense probably null
R2425:Rad23b UTSW 4 55,385,438 (GRCm39) missense probably damaging 0.99
R3774:Rad23b UTSW 4 55,382,589 (GRCm39) missense possibly damaging 0.95
R3781:Rad23b UTSW 4 55,382,586 (GRCm39) missense probably damaging 1.00
R4197:Rad23b UTSW 4 55,385,455 (GRCm39) missense probably damaging 0.98
R5911:Rad23b UTSW 4 55,370,474 (GRCm39) critical splice donor site probably null
R6056:Rad23b UTSW 4 55,382,540 (GRCm39) missense probably benign 0.01
R6067:Rad23b UTSW 4 55,370,400 (GRCm39) missense probably damaging 0.97
R6078:Rad23b UTSW 4 55,370,400 (GRCm39) missense probably damaging 0.97
R6079:Rad23b UTSW 4 55,370,400 (GRCm39) missense probably damaging 0.97
R7426:Rad23b UTSW 4 55,370,469 (GRCm39) missense probably benign 0.00
U15987:Rad23b UTSW 4 55,370,400 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CATCATTTACCTTTCAGAACTGTTGTG -3'
(R):5'- TGGTAGCAGGAGCCACTAGC -3'

Sequencing Primer
(F):5'- CTGGAATTAAAGTGTGACTCCCCG -3'
(R):5'- AGCCACTAGCCCAGGTG -3'
Posted On 2014-10-02