Incidental Mutation 'R1426:Rcor2'
ID 162269
Institutional Source Beutler Lab
Gene Symbol Rcor2
Ensembl Gene ENSMUSG00000024968
Gene Name REST corepressor 2
Synonyms 1A13, CoREST
MMRRC Submission 039482-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.884) question?
Stock # R1426 (G1)
Quality Score 194
Status Validated
Chromosome 19
Chromosomal Location 7244759-7252590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7248395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 137 (S137G)
Ref Sequence ENSEMBL: ENSMUSP00000108996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032557] [ENSMUST00000066646] [ENSMUST00000113369] [ENSMUST00000140442]
AlphaFold Q8C796
Predicted Effect probably benign
Transcript: ENSMUST00000032557
SMART Domains Protein: ENSMUSP00000032557
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
S_TKc 53 304 1.59e-108 SMART
UBA 325 362 7.69e-7 SMART
low complexity region 511 524 N/A INTRINSIC
Pfam:KA1 685 731 5.4e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000066646
AA Change: S181G

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000063335
Gene: ENSMUSG00000024968
AA Change: S181G

DomainStartEndE-ValueType
low complexity region 30 44 N/A INTRINSIC
ELM2 46 100 4.36e-17 SMART
SANT 131 179 1.32e-4 SMART
low complexity region 249 260 N/A INTRINSIC
SANT 328 376 5.24e-8 SMART
low complexity region 423 496 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113369
AA Change: S137G

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108996
Gene: ENSMUSG00000024968
AA Change: S137G

DomainStartEndE-ValueType
ELM2 2 56 4.36e-17 SMART
SANT 87 135 1.32e-4 SMART
low complexity region 205 216 N/A INTRINSIC
SANT 284 332 5.24e-8 SMART
low complexity region 379 452 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134167
Predicted Effect probably benign
Transcript: ENSMUST00000140442
SMART Domains Protein: ENSMUSP00000114858
Gene: ENSMUSG00000024968

DomainStartEndE-ValueType
low complexity region 30 44 N/A INTRINSIC
Pfam:ELM2 46 76 5e-9 PFAM
Meta Mutation Damage Score 0.1112 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.3%
  • 20x: 86.1%
Validation Efficiency 100% (40/40)
MGI Phenotype PHENOTYPE: Mice homozygous for neuronal specific conditional loss of expression display impaired neurogenesis and neuronal precursor cell proliferation resulting in a thin cerebral cortex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,635,361 (GRCm39) V214E probably damaging Het
Adh1 A G 3: 137,992,556 (GRCm39) D224G probably damaging Het
Arhgap28 C A 17: 68,164,459 (GRCm39) Q554H probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Brat1 G A 5: 140,703,768 (GRCm39) V674I probably benign Het
Brd2 ATCTTCTTC ATCTTC 17: 34,332,981 (GRCm39) probably benign Het
Ccdc162 T C 10: 41,429,178 (GRCm39) D438G possibly damaging Het
Cyp4x1 T A 4: 114,969,988 (GRCm39) probably benign Het
Dip2a T C 10: 76,115,654 (GRCm39) probably benign Het
Eif2s1 A G 12: 78,927,942 (GRCm39) D206G probably benign Het
Elovl7 T A 13: 108,419,028 (GRCm39) I220N possibly damaging Het
Gsto1 A G 19: 47,846,381 (GRCm39) E76G probably damaging Het
Hspa14 A T 2: 3,509,858 (GRCm39) W12R probably damaging Het
L3mbtl2 T A 15: 81,560,518 (GRCm39) C260S possibly damaging Het
Lama3 G T 18: 12,614,155 (GRCm39) probably null Het
Lrrc34 T A 3: 30,697,728 (GRCm39) probably benign Het
Lrrc45 A T 11: 120,610,839 (GRCm39) Q525L probably benign Het
Lss T C 10: 76,372,137 (GRCm39) I164T probably damaging Het
Myh11 T A 16: 14,023,795 (GRCm39) K1527* probably null Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Ncoa1 T A 12: 4,320,737 (GRCm39) probably benign Het
Or5an1c G T 19: 12,218,546 (GRCm39) Q160K possibly damaging Het
Or6c38 A T 10: 128,929,559 (GRCm39) C95S probably damaging Het
Pafah1b3 T C 7: 24,996,560 (GRCm39) E41G possibly damaging Het
Pnma8a C T 7: 16,694,909 (GRCm39) P255S possibly damaging Het
Prkar2b A T 12: 32,012,987 (GRCm39) probably benign Het
Rbck1 A T 2: 152,169,161 (GRCm39) probably benign Het
Slc25a48 T A 13: 56,596,804 (GRCm39) probably benign Het
Slc7a4 A G 16: 17,391,808 (GRCm39) probably null Het
Tert T C 13: 73,790,472 (GRCm39) probably benign Het
Traf7 A T 17: 24,730,655 (GRCm39) I344N probably damaging Het
Vmn1r194 T A 13: 22,429,236 (GRCm39) F284L probably damaging Het
Xpc A G 6: 91,470,220 (GRCm39) M699T probably damaging Het
Zbtb5 T C 4: 44,993,968 (GRCm39) H472R possibly damaging Het
Zfp786 A G 6: 47,802,013 (GRCm39) V88A probably benign Het
Zkscan7 T C 9: 122,724,228 (GRCm39) I399T probably benign Het
Zyg11b G A 4: 108,108,009 (GRCm39) R466C probably damaging Het
Other mutations in Rcor2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03007:Rcor2 APN 19 7,251,718 (GRCm39) missense probably benign 0.00
R1660:Rcor2 UTSW 19 7,246,337 (GRCm39) missense probably damaging 0.99
R1675:Rcor2 UTSW 19 7,247,546 (GRCm39) missense probably damaging 1.00
R5044:Rcor2 UTSW 19 7,247,150 (GRCm39) missense probably benign 0.00
R5262:Rcor2 UTSW 19 7,251,426 (GRCm39) missense probably damaging 0.98
R5630:Rcor2 UTSW 19 7,248,416 (GRCm39) missense probably damaging 1.00
R6480:Rcor2 UTSW 19 7,248,411 (GRCm39) missense probably benign 0.18
R7452:Rcor2 UTSW 19 7,248,587 (GRCm39) missense probably benign 0.00
R7618:Rcor2 UTSW 19 7,248,411 (GRCm39) missense possibly damaging 0.85
R7947:Rcor2 UTSW 19 7,251,225 (GRCm39) missense possibly damaging 0.91
R8790:Rcor2 UTSW 19 7,246,340 (GRCm39) missense possibly damaging 0.95
R9478:Rcor2 UTSW 19 7,248,794 (GRCm39) missense probably damaging 1.00
R9621:Rcor2 UTSW 19 7,251,591 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GATGTGGAGAAATCACTGGCTGACC -3'
(R):5'- TGTGCAGTCCAAGGACAAGCTGAG -3'

Sequencing Primer
(F):5'- ATCCAGCAGATGGTACGC -3'
(R):5'- AGAGCAGCTAGGGACCTCAC -3'
Posted On 2014-03-14