Incidental Mutation 'R5617:Rcor3'
ID 439563
Institutional Source Beutler Lab
Gene Symbol Rcor3
Ensembl Gene ENSMUSG00000037395
Gene Name REST corepressor 3
Synonyms C730034D20Rik, E130101E15Rik, 4921514E24Rik
MMRRC Submission 043276-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.695) question?
Stock # R5617 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 191782846-191822359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 191804430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 240 (N240D)
Ref Sequence ENSEMBL: ENSMUSP00000141753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073279] [ENSMUST00000110849] [ENSMUST00000192128] [ENSMUST00000192158] [ENSMUST00000192222] [ENSMUST00000192491] [ENSMUST00000192866]
AlphaFold Q6PGA0
Predicted Effect unknown
Transcript: ENSMUST00000073279
AA Change: N240D
SMART Domains Protein: ENSMUSP00000073004
Gene: ENSMUSG00000037395
AA Change: N240D

DomainStartEndE-ValueType
low complexity region 17 36 N/A INTRINSIC
ELM2 57 110 3.89e-14 SMART
SANT 141 189 4.56e-8 SMART
low complexity region 349 363 N/A INTRINSIC
low complexity region 370 384 N/A INTRINSIC
low complexity region 398 414 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000110849
AA Change: N240D
SMART Domains Protein: ENSMUSP00000106473
Gene: ENSMUSG00000037395
AA Change: N240D

DomainStartEndE-ValueType
low complexity region 17 36 N/A INTRINSIC
ELM2 57 110 3.89e-14 SMART
SANT 141 189 4.56e-8 SMART
low complexity region 357 374 N/A INTRINSIC
low complexity region 397 413 N/A INTRINSIC
low complexity region 418 433 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192128
AA Change: N240D

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000141637
Gene: ENSMUSG00000037395
AA Change: N240D

DomainStartEndE-ValueType
low complexity region 17 36 N/A INTRINSIC
ELM2 57 110 1.8e-18 SMART
SANT 141 189 2.8e-10 SMART
coiled coil region 292 329 N/A INTRINSIC
SANT 342 390 7.5e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192158
SMART Domains Protein: ENSMUSP00000141841
Gene: ENSMUSG00000037395

DomainStartEndE-ValueType
low complexity region 17 36 N/A INTRINSIC
ELM2 57 98 6.6e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192222
Predicted Effect probably benign
Transcript: ENSMUST00000192491
AA Change: N240D

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000141753
Gene: ENSMUSG00000037395
AA Change: N240D

DomainStartEndE-ValueType
low complexity region 17 36 N/A INTRINSIC
ELM2 57 110 1.8e-18 SMART
SANT 141 189 2.8e-10 SMART
coiled coil region 292 329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192866
AA Change: N240D

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000142054
Gene: ENSMUSG00000037395
AA Change: N240D

DomainStartEndE-ValueType
low complexity region 17 36 N/A INTRINSIC
ELM2 57 110 1.8e-18 SMART
SANT 141 189 2.8e-10 SMART
coiled coil region 292 329 N/A INTRINSIC
SANT 342 390 7.5e-13 SMART
low complexity region 449 463 N/A INTRINSIC
low complexity region 470 484 N/A INTRINSIC
low complexity region 498 514 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000194750
AA Change: N42D
Meta Mutation Damage Score 0.0709 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,227,891 (GRCm39) L645F probably benign Het
Acss3 T C 10: 106,787,851 (GRCm39) Y522C probably damaging Het
Asb18 A G 1: 89,882,184 (GRCm39) V118A possibly damaging Het
Aste1 T A 9: 105,275,034 (GRCm39) C8S probably benign Het
Atp10a A G 7: 58,453,423 (GRCm39) S834G probably benign Het
Cdh18 A G 15: 23,226,854 (GRCm39) D105G probably damaging Het
Cenpb T C 2: 131,020,934 (GRCm39) E288G probably damaging Het
Clcnka C T 4: 141,116,628 (GRCm39) G541D probably null Het
Dctn3 T C 4: 41,716,407 (GRCm39) I134V possibly damaging Het
Dennd4b T C 3: 90,182,933 (GRCm39) S917P probably benign Het
Fam135b A T 15: 71,493,865 (GRCm39) D21E probably damaging Het
Fam174a T C 1: 95,241,972 (GRCm39) V144A probably damaging Het
Fbxo38 A G 18: 62,639,042 (GRCm39) Y1087H probably damaging Het
Gm7275 A T 16: 47,894,527 (GRCm39) noncoding transcript Het
Gm9271 G T 7: 39,013,076 (GRCm39) noncoding transcript Het
Grm2 T C 9: 106,528,275 (GRCm39) probably null Het
Htt T A 5: 35,028,150 (GRCm39) V1802D possibly damaging Het
Ighv1-75 C A 12: 115,797,874 (GRCm39) G16V probably benign Het
Krt78 G A 15: 101,856,044 (GRCm39) T589I probably damaging Het
Lama3 T C 18: 12,631,993 (GRCm39) probably benign Het
Lbr A T 1: 181,656,467 (GRCm39) V227D probably benign Het
Lsamp T C 16: 41,954,786 (GRCm39) V211A probably damaging Het
Map3k19 G A 1: 127,750,703 (GRCm39) R883C probably damaging Het
Marchf8 A C 6: 116,380,481 (GRCm39) I111L possibly damaging Het
Mrps10 T A 17: 47,689,167 (GRCm39) M187K probably benign Het
Ncdn G A 4: 126,638,840 (GRCm39) R660C probably damaging Het
Notum A T 11: 120,547,171 (GRCm39) Y332* probably null Het
Nr1h5 A T 3: 102,855,145 (GRCm39) L319I probably damaging Het
Or51q1 A T 7: 103,628,921 (GRCm39) H180L possibly damaging Het
Or8k35 T A 2: 86,424,345 (GRCm39) I276L probably benign Het
Osbpl5 T C 7: 143,246,684 (GRCm39) D765G possibly damaging Het
Parp3 C T 9: 106,351,704 (GRCm39) V170M possibly damaging Het
Pcdh15 A G 10: 74,471,504 (GRCm39) probably benign Het
Pcdha9 T G 18: 37,131,869 (GRCm39) S313A probably benign Het
Pfkm A G 15: 98,020,107 (GRCm39) R201G possibly damaging Het
Pgm5 G A 19: 24,727,765 (GRCm39) R375* probably null Het
Phactr2 A G 10: 13,349,809 (GRCm39) S72P possibly damaging Het
Plaat1 A T 16: 29,039,162 (GRCm39) R81* probably null Het
Plec A G 15: 76,058,732 (GRCm39) L3600P probably damaging Het
Pou6f1 G A 15: 100,483,874 (GRCm39) T208M possibly damaging Het
Rabep1 C T 11: 70,808,355 (GRCm39) S394L probably damaging Het
Ranbp2 T G 10: 58,301,489 (GRCm39) F687C probably damaging Het
Ranbp6 A G 19: 29,789,863 (GRCm39) F163S probably damaging Het
Samd13 C A 3: 146,352,065 (GRCm39) K95N probably benign Het
Slc25a17 G T 15: 81,244,975 (GRCm39) probably benign Het
Slfn8 G T 11: 82,895,547 (GRCm39) H420N probably benign Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Stim2 G A 5: 54,267,075 (GRCm39) E21K probably damaging Het
Tmem163 A G 1: 127,479,067 (GRCm39) Y151H possibly damaging Het
Trio A G 15: 27,902,834 (GRCm39) I209T probably benign Het
Tubal3 T A 13: 3,983,432 (GRCm39) L404H probably damaging Het
Ubqln3 A G 7: 103,791,640 (GRCm39) F150S probably damaging Het
Ubr5 T C 15: 38,030,901 (GRCm39) S425G possibly damaging Het
Vmn2r52 T A 7: 9,904,861 (GRCm39) H326L probably damaging Het
Other mutations in Rcor3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Rcor3 APN 1 191,812,271 (GRCm39) unclassified probably benign
IGL01688:Rcor3 APN 1 191,807,900 (GRCm39) missense probably damaging 1.00
IGL01905:Rcor3 APN 1 191,785,302 (GRCm39) missense probably damaging 1.00
R0523:Rcor3 UTSW 1 191,814,736 (GRCm39) missense probably damaging 1.00
R1305:Rcor3 UTSW 1 191,800,646 (GRCm39) missense possibly damaging 0.50
R1847:Rcor3 UTSW 1 191,785,133 (GRCm39) missense possibly damaging 0.83
R1850:Rcor3 UTSW 1 191,804,411 (GRCm39) missense probably benign
R3938:Rcor3 UTSW 1 191,785,385 (GRCm39) missense possibly damaging 0.92
R4403:Rcor3 UTSW 1 191,804,212 (GRCm39) splice site probably null
R4590:Rcor3 UTSW 1 191,810,217 (GRCm39) missense probably damaging 1.00
R4750:Rcor3 UTSW 1 191,814,749 (GRCm39) missense unknown
R5219:Rcor3 UTSW 1 191,821,813 (GRCm39) utr 5 prime probably benign
R6059:Rcor3 UTSW 1 191,804,240 (GRCm39) missense probably benign 0.21
R6156:Rcor3 UTSW 1 191,812,142 (GRCm39) unclassified probably benign
R6250:Rcor3 UTSW 1 191,785,196 (GRCm39) missense probably damaging 1.00
R6258:Rcor3 UTSW 1 191,808,559 (GRCm39) missense probably benign 0.27
R6260:Rcor3 UTSW 1 191,808,559 (GRCm39) missense probably benign 0.27
R6808:Rcor3 UTSW 1 191,822,179 (GRCm39) missense possibly damaging 0.79
R7194:Rcor3 UTSW 1 191,810,261 (GRCm39) missense possibly damaging 0.88
R7387:Rcor3 UTSW 1 191,821,824 (GRCm39) start gained probably benign
R7402:Rcor3 UTSW 1 191,812,283 (GRCm39) missense probably benign 0.00
R7407:Rcor3 UTSW 1 191,785,972 (GRCm39) missense probably benign
R7432:Rcor3 UTSW 1 191,822,173 (GRCm39) missense probably damaging 1.00
R7451:Rcor3 UTSW 1 191,822,173 (GRCm39) missense probably damaging 1.00
R7452:Rcor3 UTSW 1 191,822,173 (GRCm39) missense probably damaging 1.00
R7570:Rcor3 UTSW 1 191,822,173 (GRCm39) missense probably damaging 1.00
R7571:Rcor3 UTSW 1 191,822,173 (GRCm39) missense probably damaging 1.00
R7572:Rcor3 UTSW 1 191,822,173 (GRCm39) missense probably damaging 1.00
R7718:Rcor3 UTSW 1 191,786,021 (GRCm39) missense probably benign 0.00
R7729:Rcor3 UTSW 1 191,786,078 (GRCm39) missense probably damaging 1.00
R7994:Rcor3 UTSW 1 191,785,945 (GRCm39) missense probably damaging 1.00
R8221:Rcor3 UTSW 1 191,814,749 (GRCm39) missense unknown
R9077:Rcor3 UTSW 1 191,807,865 (GRCm39) missense probably damaging 0.97
R9157:Rcor3 UTSW 1 191,810,181 (GRCm39) missense possibly damaging 0.63
R9206:Rcor3 UTSW 1 191,785,895 (GRCm39) makesense probably null
R9313:Rcor3 UTSW 1 191,810,181 (GRCm39) missense possibly damaging 0.63
R9443:Rcor3 UTSW 1 191,786,050 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGAAATACCTGGCGCTTGAG -3'
(R):5'- TGTCACGGTGCCACATACAC -3'

Sequencing Primer
(F):5'- CTTGAGAGAGATCAGCTCCATGTC -3'
(R):5'- TACACCCCCACTGCATGTG -3'
Posted On 2016-11-08