Incidental Mutation 'IGL03007:Rcor2'
ID 407588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rcor2
Ensembl Gene ENSMUSG00000024968
Gene Name REST corepressor 2
Synonyms 1A13, CoREST
Accession Numbers
Essential gene? Probably essential (E-score: 0.884) question?
Stock # IGL03007
Quality Score
Status
Chromosome 19
Chromosomal Location 7244759-7252590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 7251718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 379 (T379K)
Ref Sequence ENSEMBL: ENSMUSP00000108996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025921] [ENSMUST00000032557] [ENSMUST00000051711] [ENSMUST00000066646] [ENSMUST00000113369] [ENSMUST00000166461] [ENSMUST00000171352] [ENSMUST00000167767] [ENSMUST00000168872] [ENSMUST00000140442] [ENSMUST00000165286] [ENSMUST00000164205] [ENSMUST00000165965]
AlphaFold Q8C796
Predicted Effect probably benign
Transcript: ENSMUST00000025921
SMART Domains Protein: ENSMUSP00000025921
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
S_TKc 20 271 1.59e-108 SMART
UBA 292 329 7.69e-7 SMART
low complexity region 475 489 N/A INTRINSIC
low complexity region 532 545 N/A INTRINSIC
Pfam:KA1 697 743 2.5e-21 PFAM
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 probably benign
Transcript: ENSMUST00000051711
SMART Domains Protein: ENSMUSP00000108969
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
S_TKc 53 304 1.59e-108 SMART
UBA 325 362 7.69e-7 SMART
low complexity region 508 522 N/A INTRINSIC
low complexity region 565 578 N/A INTRINSIC
Pfam:KA1 730 776 6.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066646
AA Change: T423K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000063335
Gene: ENSMUSG00000024968
AA Change: T423K

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 probably benign
Transcript: ENSMUST00000113369
AA Change: T379K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108996
Gene: ENSMUSG00000024968
AA Change: T379K

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 noncoding transcript
Transcript: ENSMUST00000171044
Predicted Effect probably benign
Transcript: ENSMUST00000166461
SMART Domains Protein: ENSMUSP00000128549
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
low complexity region 45 59 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
Pfam:KA1 261 307 1.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171352
SMART Domains Protein: ENSMUSP00000129490
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
low complexity region 127 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171721
SMART Domains Protein: ENSMUSP00000129506
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
S_TKc 44 295 1.59e-108 SMART
UBA 316 353 7.69e-7 SMART
low complexity region 499 513 N/A INTRINSIC
low complexity region 556 569 N/A INTRINSIC
Pfam:KA1 732 776 7.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167767
SMART Domains Protein: ENSMUSP00000132482
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
PDB:3OSE|A 220 264 1e-18 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000163345
SMART Domains Protein: ENSMUSP00000125944
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
low complexity region 58 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168872
SMART Domains Protein: ENSMUSP00000128560
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 661 707 5.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165881
SMART Domains Protein: ENSMUSP00000126753
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
low complexity region 88 102 N/A INTRINSIC
low complexity region 145 158 N/A INTRINSIC
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
Predicted Effect probably benign
Transcript: ENSMUST00000165286
SMART Domains Protein: ENSMUSP00000126468
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 670 716 6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164205
SMART Domains Protein: ENSMUSP00000127827
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 676 722 5.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165965
SMART Domains Protein: ENSMUSP00000131684
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
S_TKc 53 304 1.59e-108 SMART
UBA 325 362 7.69e-7 SMART
low complexity region 508 522 N/A INTRINSIC
low complexity region 565 578 N/A INTRINSIC
Pfam:KA1 732 776 7.2e-24 PFAM
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,098,034 (GRCm39) N144D possibly damaging Het
A830031A19Rik T C 11: 23,999,248 (GRCm39) probably benign Het
Ankfy1 T C 11: 72,641,347 (GRCm39) F640S probably damaging Het
Asb8 A G 15: 98,040,615 (GRCm39) Y16H probably damaging Het
Astn1 T C 1: 158,496,193 (GRCm39) probably benign Het
Btbd8 T A 5: 107,651,542 (GRCm39) V145E probably benign Het
Celf3 A G 3: 94,394,444 (GRCm39) T183A probably benign Het
Dctn1 T C 6: 83,159,690 (GRCm39) V56A probably damaging Het
Erbb2 A C 11: 98,319,819 (GRCm39) probably benign Het
Ighv6-4 A T 12: 114,370,213 (GRCm39) Y80N possibly damaging Het
Igsf9b T C 9: 27,244,378 (GRCm39) S782P probably damaging Het
Itsn1 A T 16: 91,581,050 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,282,245 (GRCm39) Y77N possibly damaging Het
Lig3 T C 11: 82,680,401 (GRCm39) F359S probably damaging Het
Mtmr6 G T 14: 60,526,984 (GRCm39) probably benign Het
Muc4 C T 16: 32,570,866 (GRCm39) S642F possibly damaging Het
Ncoa1 T A 12: 4,389,114 (GRCm39) I54F possibly damaging Het
Nfx1 C A 4: 40,984,962 (GRCm39) T362K probably benign Het
Ntrk1 T C 3: 87,690,050 (GRCm39) S449G possibly damaging Het
Odc1 T A 12: 17,598,811 (GRCm39) H230Q probably benign Het
Or10d4 T C 9: 39,580,767 (GRCm39) V138A possibly damaging Het
Or10h28 A G 17: 33,487,857 (GRCm39) E53G probably damaging Het
Or1j19 T C 2: 36,676,812 (GRCm39) S92P probably damaging Het
Or8d1 C T 9: 38,766,592 (GRCm39) T78I probably damaging Het
Plekhh2 A C 17: 84,882,388 (GRCm39) S665R possibly damaging Het
Qpct T A 17: 79,378,294 (GRCm39) F155I probably damaging Het
Rint1 A G 5: 24,020,699 (GRCm39) N574S probably benign Het
Rsbn1 C T 3: 103,836,195 (GRCm39) A411V probably damaging Het
Sbno2 A T 10: 79,894,384 (GRCm39) probably benign Het
Sptb A G 12: 76,668,115 (GRCm39) S661P probably damaging Het
Syn3 A T 10: 85,900,778 (GRCm39) M370K possibly damaging Het
Tex101 G A 7: 24,369,906 (GRCm39) probably benign Het
Tmem255b C T 8: 13,507,066 (GRCm39) T265I possibly damaging Het
Trio G T 15: 27,902,828 (GRCm39) A211D probably damaging Het
Zfp638 C A 6: 83,961,866 (GRCm39) Q1902K probably damaging Het
Other mutations in Rcor2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1426:Rcor2 UTSW 19 7,248,395 (GRCm39) missense possibly damaging 0.82
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
Posted On 2016-08-02