Incidental Mutation 'R2921:Rdm1'
ID 255541
Institutional Source Beutler Lab
Gene Symbol Rdm1
Ensembl Gene ENSMUSG00000010362
Gene Name RAD52 motif 1
Synonyms 2410008M22Rik, Rad52b
MMRRC Submission 040506-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R2921 (G1)
Quality Score 201
Status Not validated
Chromosome 11
Chromosomal Location 101518021-101526926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101521716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 157 (L157H)
Ref Sequence ENSEMBL: ENSMUSP00000010506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010506]
AlphaFold Q9CQK3
Predicted Effect possibly damaging
Transcript: ENSMUST00000010506
AA Change: L157H

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000010506
Gene: ENSMUSG00000010362
AA Change: L157H

DomainStartEndE-ValueType
RRM 16 94 6.2e-6 SMART
low complexity region 248 259 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083833
Predicted Effect unknown
Transcript: ENSMUST00000133727
AA Change: L86H
SMART Domains Protein: ENSMUSP00000118996
Gene: ENSMUSG00000010362
AA Change: L86H

DomainStartEndE-ValueType
Pfam:Rad52_Rad22 14 118 1.9e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155222
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 90,009,393 (GRCm39) D90G possibly damaging Het
Adipor1 T C 1: 134,353,731 (GRCm39) V172A possibly damaging Het
Akt2 A G 7: 27,328,411 (GRCm39) K146R probably benign Het
Atg4a T C X: 139,941,768 (GRCm39) V284A possibly damaging Het
Atp6v0a2 C T 5: 124,794,981 (GRCm39) T656M possibly damaging Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 127,960,946 (GRCm39) probably null Het
Ccdc116 T C 16: 16,960,307 (GRCm39) H170R probably benign Het
Ccn5 G A 2: 163,674,266 (GRCm39) R222Q probably benign Het
Cemip2 A G 19: 21,795,303 (GRCm39) D732G possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dpm3 C T 3: 89,174,062 (GRCm39) L8F probably damaging Het
Fhl3 T C 4: 124,599,463 (GRCm39) S13P probably damaging Het
Fndc1 A G 17: 8,023,707 (GRCm39) S83P probably damaging Het
Gapvd1 A T 2: 34,578,875 (GRCm39) I1249N probably damaging Het
Gbp7 A T 3: 142,240,333 (GRCm39) E17V probably benign Het
Gm57858 T C 3: 36,080,077 (GRCm39) M227V probably null Het
Golga4 T A 9: 118,388,411 (GRCm39) S1844R possibly damaging Het
Grm7 T A 6: 111,472,866 (GRCm39) probably null Het
Hdc G A 2: 126,435,910 (GRCm39) P654S probably damaging Het
Hgd T C 16: 37,439,330 (GRCm39) F213L probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hoxb1 T C 11: 96,257,119 (GRCm39) L156P probably benign Het
Mboat2 T A 12: 25,004,239 (GRCm39) W347R probably damaging Het
Mlkl T C 8: 112,043,079 (GRCm39) E356G probably benign Het
Ncor2 A G 5: 125,132,855 (GRCm39) F44S probably damaging Het
Nipal3 A T 4: 135,204,776 (GRCm39) I125N probably damaging Het
Nr1h4 A T 10: 89,334,223 (GRCm39) Y42N probably damaging Het
Nup155 A C 15: 8,183,125 (GRCm39) E1228D probably damaging Het
Or4c113 A G 2: 88,884,843 (GRCm39) V309A probably benign Het
Pde4dip T C 3: 97,626,885 (GRCm39) N1218D probably benign Het
Ralgps1 A T 2: 33,033,082 (GRCm39) I449N probably damaging Het
Rfx7 G A 9: 72,524,946 (GRCm39) G712D possibly damaging Het
Rnf151 C T 17: 24,935,235 (GRCm39) G232D possibly damaging Het
Rpl22 C A 4: 152,412,002 (GRCm39) T26N possibly damaging Het
Rptn A G 3: 93,306,015 (GRCm39) Y1116C possibly damaging Het
Safb2 A G 17: 56,875,906 (GRCm39) V89A possibly damaging Het
Setx TGTGG TG 2: 29,044,072 (GRCm39) probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc24a2 A G 4: 86,909,591 (GRCm39) V660A possibly damaging Het
Slc26a2 T A 18: 61,335,007 (GRCm39) I149F probably damaging Het
Slc6a15 A G 10: 103,254,248 (GRCm39) D728G probably damaging Het
Slfn3 A G 11: 83,105,871 (GRCm39) M623V probably benign Het
Smim1 A G 4: 154,108,097 (GRCm39) probably benign Het
Spatc1 T C 15: 76,168,125 (GRCm39) S195P probably damaging Het
Tmx1 T A 12: 70,512,895 (GRCm39) C268S probably benign Het
Trpc6 A T 9: 8,653,034 (GRCm39) L613F possibly damaging Het
Vmn2r60 T A 7: 41,790,459 (GRCm39) V482E probably damaging Het
Zdhhc18 G T 4: 133,360,455 (GRCm39) H82Q probably benign Het
Zfp507 T C 7: 35,494,224 (GRCm39) E273G probably damaging Het
Other mutations in Rdm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Rdm1 APN 11 101,526,580 (GRCm39) missense possibly damaging 0.58
IGL02153:Rdm1 APN 11 101,519,280 (GRCm39) critical splice donor site probably null
IGL02589:Rdm1 APN 11 101,518,831 (GRCm39) missense possibly damaging 0.80
R0532:Rdm1 UTSW 11 101,526,661 (GRCm39) missense probably benign 0.11
R1111:Rdm1 UTSW 11 101,524,721 (GRCm39) missense probably benign 0.19
R1532:Rdm1 UTSW 11 101,524,643 (GRCm39) missense probably damaging 1.00
R1618:Rdm1 UTSW 11 101,519,217 (GRCm39) missense possibly damaging 0.83
R1696:Rdm1 UTSW 11 101,521,694 (GRCm39) missense probably benign 0.43
R2205:Rdm1 UTSW 11 101,525,629 (GRCm39) missense probably damaging 1.00
R2922:Rdm1 UTSW 11 101,521,716 (GRCm39) missense possibly damaging 0.90
R2923:Rdm1 UTSW 11 101,521,716 (GRCm39) missense possibly damaging 0.90
R4327:Rdm1 UTSW 11 101,521,734 (GRCm39) missense probably damaging 1.00
R4329:Rdm1 UTSW 11 101,521,734 (GRCm39) missense probably damaging 1.00
R6364:Rdm1 UTSW 11 101,521,068 (GRCm39) missense probably benign 0.01
R7109:Rdm1 UTSW 11 101,524,654 (GRCm39) missense probably damaging 1.00
R8063:Rdm1 UTSW 11 101,521,694 (GRCm39) missense probably benign 0.43
R8485:Rdm1 UTSW 11 101,518,816 (GRCm39) missense probably benign 0.28
R9209:Rdm1 UTSW 11 101,518,857 (GRCm39) missense probably benign
X0010:Rdm1 UTSW 11 101,518,796 (GRCm39) start codon destroyed probably null 0.99
Predicted Primers PCR Primer
(F):5'- CATTGAGTTCTCCAGCAAGCTG -3'
(R):5'- CCTGGCTAGTAGCTGACAACAAG -3'

Sequencing Primer
(F):5'- CTGGGGCTGGGGCTAAGTAATG -3'
(R):5'- CTAGTAGCTGACAACAAGTGGAG -3'
Posted On 2014-12-29