Incidental Mutation 'R6250:Rcor1'
ID505931
Institutional Source Beutler Lab
Gene Symbol Rcor1
Ensembl Gene ENSMUSG00000037896
Gene NameREST corepressor 1
Synonyms6720480E22Rik, D12Wsu95e, Rocr1
MMRRC Submission 044367-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6250 (G1)
Quality Score225.009
Status Validated
Chromosome12
Chromosomal Location111039351-111115901 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 111111877 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 469 (A469S)
Ref Sequence ENSEMBL: ENSMUSP00000082034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084968] [ENSMUST00000116388]
Predicted Effect probably benign
Transcript: ENSMUST00000084968
AA Change: A469S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000082034
Gene: ENSMUSG00000037896
AA Change: A469S

DomainStartEndE-ValueType
low complexity region 21 58 N/A INTRINSIC
low complexity region 66 98 N/A INTRINSIC
ELM2 99 154 1.12e-14 SMART
SANT 185 233 4.49e-7 SMART
low complexity region 250 260 N/A INTRINSIC
low complexity region 318 331 N/A INTRINSIC
SANT 376 424 2.52e-10 SMART
low complexity region 453 465 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116388
AA Change: A371S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112089
Gene: ENSMUSG00000037896
AA Change: A371S

DomainStartEndE-ValueType
ELM2 1 56 1.12e-14 SMART
SANT 87 135 4.49e-7 SMART
low complexity region 152 162 N/A INTRINSIC
coiled coil region 230 265 N/A INTRINSIC
SANT 278 326 2.52e-10 SMART
low complexity region 355 367 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 98% (60/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit partial embryonic lethality, defective embryonic erythropoiesis, and decreased erythroid progenitor cell number. No homozygotes survive to P7. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,150,714 G1195D probably damaging Het
Abhd12 T C 2: 150,839,747 Y241C probably damaging Het
Ak9 T C 10: 41,389,034 V929A possibly damaging Het
Ap3s1 T C 18: 46,754,447 F49S probably damaging Het
Atp9b T C 18: 80,756,521 H801R probably benign Het
B430218F22Rik A G 13: 118,387,408 probably benign Het
BC030867 A G 11: 102,255,062 T55A probably benign Het
Ccnd3 T A 17: 47,597,562 L186* probably null Het
Cnbd1 T A 4: 19,098,255 Q55L probably benign Het
Commd10 A G 18: 46,963,688 E54G probably damaging Het
D6Ertd527e G A 6: 87,111,212 G119D unknown Het
Dab1 C T 4: 104,731,751 A524V probably benign Het
Disp2 A T 2: 118,790,766 I660F probably damaging Het
Eef1a2 A G 2: 181,151,060 F211L possibly damaging Het
Epb41 A T 4: 131,989,873 F323L probably damaging Het
Eps8l3 A T 3: 107,890,465 I403F probably benign Het
Ercc5 T A 1: 44,164,049 V282D probably damaging Het
Faim A T 9: 98,992,123 M1L probably benign Het
Fbxo24 A G 5: 137,621,281 F111L probably damaging Het
Glrx A T 13: 75,840,110 I48F probably damaging Het
Gucy2g A T 19: 55,217,424 L668Q probably damaging Het
Hectd4 A G 5: 121,339,498 D2828G possibly damaging Het
Hivep2 T C 10: 14,131,759 V1367A probably benign Het
Ipo13 A G 4: 117,912,154 V147A possibly damaging Het
Jchain T C 5: 88,526,175 T37A probably benign Het
Kif1b A G 4: 149,213,643 V1034A probably benign Het
Krt25 T A 11: 99,321,163 N216I probably damaging Het
Lman1l A G 9: 57,615,624 V151A probably benign Het
Mfsd4b1 T C 10: 40,003,110 S264G possibly damaging Het
Mxra8 G T 4: 155,841,089 R82L possibly damaging Het
Nlrp1b A T 11: 71,181,799 I406N probably benign Het
Olfr1381 A T 11: 49,551,884 I46F probably damaging Het
Olfr155 T C 4: 43,854,363 L18P possibly damaging Het
Olfr191 G A 16: 59,085,832 S217F probably damaging Het
Pak7 T C 2: 136,174,269 probably benign Het
Pcsk4 T C 10: 80,325,592 R222G probably benign Het
Pik3cb A C 9: 99,094,598 F149V probably benign Het
Plscr4 G A 9: 92,484,828 R165Q possibly damaging Het
Ppp2r2a A T 14: 67,038,954 V34E probably damaging Het
Prpf8 T G 11: 75,493,508 S659R possibly damaging Het
Ptprd A G 4: 76,128,995 S342P probably damaging Het
Pum2 T C 12: 8,744,755 probably null Het
Ranbp3 T G 17: 56,677,208 probably null Het
Rassf7 A G 7: 141,217,243 E123G probably damaging Het
Rcor3 G T 1: 192,100,896 P524Q probably damaging Het
Rnf44 A T 13: 54,682,107 probably null Het
Rtf1 T C 2: 119,675,177 V37A unknown Het
Sdc4 A T 2: 164,431,218 D57E probably damaging Het
Setbp1 T C 18: 78,858,002 T817A probably benign Het
Setd1a A G 7: 127,791,299 E506G unknown Het
Slc30a8 G A 15: 52,335,149 R330Q probably benign Het
Snx22 C A 9: 66,069,641 E14* probably null Het
Spata31d1a A G 13: 59,701,801 S838P possibly damaging Het
Sprr4 G T 3: 92,500,463 Q11K unknown Het
Trpm3 A G 19: 22,910,054 N839S probably benign Het
Vps9d1 T C 8: 123,248,208 probably null Het
Vwa3b T C 1: 37,051,885 probably null Het
Ythdf1 T C 2: 180,911,100 T414A probably damaging Het
Zfp709 TCGACG TCG 8: 71,890,708 probably benign Het
Other mutations in Rcor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01869:Rcor1 APN 12 111103759 missense possibly damaging 0.92
R0103:Rcor1 UTSW 12 111109778 splice site probably benign
R0103:Rcor1 UTSW 12 111109778 splice site probably benign
R0504:Rcor1 UTSW 12 111101668 missense probably benign 0.03
R1506:Rcor1 UTSW 12 111109837 missense probably damaging 1.00
R1540:Rcor1 UTSW 12 111103603 splice site probably benign
R2356:Rcor1 UTSW 12 111109792 missense probably damaging 0.99
R3882:Rcor1 UTSW 12 111103753 missense probably damaging 1.00
R3952:Rcor1 UTSW 12 111039735 unclassified probably benign
R4881:Rcor1 UTSW 12 111097552 missense probably damaging 1.00
R5718:Rcor1 UTSW 12 111101635 missense probably benign 0.13
R6798:Rcor1 UTSW 12 111039886 splice site probably benign
R6901:Rcor1 UTSW 12 111108888 missense probably damaging 0.97
R7538:Rcor1 UTSW 12 111067837 intron probably null
R7761:Rcor1 UTSW 12 111109863 missense
X0027:Rcor1 UTSW 12 111040001 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATCTTGGCTAATAGGGAAGCTGAG -3'
(R):5'- AAGTCGTGCCAACATGGAGG -3'

Sequencing Primer
(F):5'- GGCTTAGAAAGAGAAAACTGGTCC -3'
(R):5'- CACGGGACTGGAAGTGTATGC -3'
Posted On2018-02-28