Incidental Mutation 'R8696:Rcbtb2'
ID 668733
Institutional Source Beutler Lab
Gene Symbol Rcbtb2
Ensembl Gene ENSMUSG00000022106
Gene Name regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2
Synonyms Rc/btb2, 2810420M18Rik, 2610028E02Rik, Chc1l
MMRRC Submission 068550-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R8696 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 73376185-73421495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 73404305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 259 (V259G)
Ref Sequence ENSEMBL: ENSMUSP00000131588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022702] [ENSMUST00000110952] [ENSMUST00000163339] [ENSMUST00000163533] [ENSMUST00000163797] [ENSMUST00000164298] [ENSMUST00000164822] [ENSMUST00000165429] [ENSMUST00000165567] [ENSMUST00000165727] [ENSMUST00000167021] [ENSMUST00000167401] [ENSMUST00000169479] [ENSMUST00000169513] [ENSMUST00000170368] [ENSMUST00000170370] [ENSMUST00000170677] [ENSMUST00000171070] [ENSMUST00000171767]
AlphaFold Q99LJ7
Predicted Effect probably damaging
Transcript: ENSMUST00000022702
AA Change: V259G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022702
Gene: ENSMUSG00000022106
AA Change: V259G

DomainStartEndE-ValueType
Pfam:RCC1 117 167 1.1e-16 PFAM
Pfam:RCC1_2 154 183 7.1e-15 PFAM
Pfam:RCC1 170 220 1.7e-14 PFAM
Pfam:RCC1 223 272 7.1e-18 PFAM
Pfam:RCC1_2 259 288 1.7e-12 PFAM
Pfam:RCC1 275 324 8e-16 PFAM
BTB 394 487 2.69e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110952
AA Change: V259G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106577
Gene: ENSMUSG00000022106
AA Change: V259G

DomainStartEndE-ValueType
Pfam:RCC1 117 167 3e-16 PFAM
Pfam:RCC1_2 154 183 7.8e-15 PFAM
Pfam:RCC1 170 220 1.4e-15 PFAM
Pfam:RCC1 223 272 9.4e-18 PFAM
Pfam:RCC1_2 259 288 2.6e-11 PFAM
Pfam:RCC1 275 324 1.2e-13 PFAM
BTB 394 487 2.69e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163339
Predicted Effect probably benign
Transcript: ENSMUST00000163533
SMART Domains Protein: ENSMUSP00000130828
Gene: ENSMUSG00000022106

DomainStartEndE-ValueType
Pfam:RCC1 117 150 4.3e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163797
AA Change: V172G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132125
Gene: ENSMUSG00000022106
AA Change: V172G

DomainStartEndE-ValueType
Pfam:RCC1 136 174 7.7e-12 PFAM
low complexity region 199 207 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164298
AA Change: V245G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126651
Gene: ENSMUSG00000022106
AA Change: V245G

DomainStartEndE-ValueType
Pfam:RCC1 103 153 2.9e-17 PFAM
Pfam:RCC1_2 140 169 2.2e-15 PFAM
Pfam:RCC1 156 206 4.4e-15 PFAM
Pfam:RCC1 209 247 1.2e-11 PFAM
low complexity region 272 280 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164822
AA Change: V259G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131588
Gene: ENSMUSG00000022106
AA Change: V259G

DomainStartEndE-ValueType
Pfam:RCC1 117 167 1.1e-16 PFAM
Pfam:RCC1_2 154 183 7.1e-15 PFAM
Pfam:RCC1 170 220 1.7e-14 PFAM
Pfam:RCC1 223 272 7.1e-18 PFAM
Pfam:RCC1_2 259 288 1.7e-12 PFAM
Pfam:RCC1 275 324 8e-16 PFAM
BTB 394 487 2.69e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165429
SMART Domains Protein: ENSMUSP00000127258
Gene: ENSMUSG00000022106

DomainStartEndE-ValueType
Pfam:RCC1 93 143 4.4e-17 PFAM
Pfam:RCC1_2 130 157 5.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165567
SMART Domains Protein: ENSMUSP00000130240
Gene: ENSMUSG00000022106

DomainStartEndE-ValueType
Pfam:RCC1 117 167 5.3e-17 PFAM
Pfam:RCC1_2 154 172 6.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165727
SMART Domains Protein: ENSMUSP00000128479
Gene: ENSMUSG00000022106

DomainStartEndE-ValueType
Pfam:RCC1 11 60 2.3e-14 PFAM
Pfam:RCC1 63 90 6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167021
Predicted Effect probably benign
Transcript: ENSMUST00000167401
Predicted Effect probably damaging
Transcript: ENSMUST00000169479
AA Change: V259G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126898
Gene: ENSMUSG00000022106
AA Change: V259G

DomainStartEndE-ValueType
Pfam:RCC1 117 167 1.1e-16 PFAM
Pfam:RCC1_2 154 183 7.1e-15 PFAM
Pfam:RCC1 170 220 1.7e-14 PFAM
Pfam:RCC1 223 272 7.1e-18 PFAM
Pfam:RCC1_2 259 288 1.7e-12 PFAM
Pfam:RCC1 275 324 8e-16 PFAM
BTB 394 487 2.69e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169513
AA Change: V235G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128579
Gene: ENSMUSG00000022106
AA Change: V235G

DomainStartEndE-ValueType
Pfam:RCC1 93 143 3.1e-16 PFAM
Pfam:RCC1_2 130 159 1.9e-14 PFAM
Pfam:RCC1 146 196 4.7e-14 PFAM
Pfam:RCC1 199 248 1.9e-17 PFAM
Pfam:RCC1_2 235 264 4.4e-12 PFAM
Pfam:RCC1 251 300 2.2e-15 PFAM
BTB 370 463 2.69e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170368
SMART Domains Protein: ENSMUSP00000126276
Gene: ENSMUSG00000022106

DomainStartEndE-ValueType
SCOP:d1a12a_ 45 86 9e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170370
SMART Domains Protein: ENSMUSP00000130732
Gene: ENSMUSG00000022106

DomainStartEndE-ValueType
SCOP:d1a12a_ 45 128 1e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170677
AA Change: V235G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126510
Gene: ENSMUSG00000022106
AA Change: V235G

DomainStartEndE-ValueType
Pfam:RCC1 93 143 3.1e-16 PFAM
Pfam:RCC1_2 130 159 1.9e-14 PFAM
Pfam:RCC1 146 196 4.7e-14 PFAM
Pfam:RCC1 199 248 1.9e-17 PFAM
Pfam:RCC1_2 235 264 4.4e-12 PFAM
Pfam:RCC1 251 300 2.2e-15 PFAM
BTB 370 463 2.69e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171070
Predicted Effect probably damaging
Transcript: ENSMUST00000171767
AA Change: V259G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127397
Gene: ENSMUSG00000022106
AA Change: V259G

DomainStartEndE-ValueType
Pfam:RCC1 117 167 1.7e-16 PFAM
Pfam:RCC1_2 154 183 4.9e-15 PFAM
Pfam:RCC1 170 220 8.4e-16 PFAM
Pfam:RCC1 223 272 5.5e-18 PFAM
Pfam:RCC1_2 259 288 1.7e-11 PFAM
Pfam:RCC1 275 324 6.8e-14 PFAM
BTB 394 487 2.69e-21 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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 containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,687,235 (GRCm39) N423S probably benign Het
Adgrl4 T C 3: 151,248,344 (GRCm39) L672P probably damaging Het
Akr1b10 C T 6: 34,369,067 (GRCm39) T182I possibly damaging Het
Ankrd33 A G 15: 101,014,864 (GRCm39) I84V probably benign Het
Arhgap32 A G 9: 32,159,799 (GRCm39) Y272C possibly damaging Het
Arid4a T C 12: 71,110,090 (GRCm39) S144P probably damaging Het
Bicd1 A G 6: 149,415,285 (GRCm39) D666G probably damaging Het
Blk A T 14: 63,618,149 (GRCm39) probably benign Het
Btbd2 C T 10: 80,480,515 (GRCm39) R366Q possibly damaging Het
Cacna1i T C 15: 80,266,175 (GRCm39) V1554A probably damaging Het
Camsap3 T C 8: 3,653,614 (GRCm39) L428P probably damaging Het
Ccdc30 T G 4: 119,234,505 (GRCm39) Y69S possibly damaging Het
Ccdc7a T A 8: 129,715,244 (GRCm39) E280V probably damaging Het
Cdk11b T C 4: 155,732,779 (GRCm39) V539A unknown Het
Ceacam3 A T 7: 16,893,937 (GRCm39) N483Y Het
Cenpf C T 1: 189,390,194 (GRCm39) A1213T probably benign Het
Chrna6 G T 8: 27,897,195 (GRCm39) Y227* probably null Het
Cntnap5c A T 17: 58,601,294 (GRCm39) D814V probably damaging Het
Csl A T 10: 99,594,826 (GRCm39) Y80N probably damaging Het
Ctsm A G 13: 61,685,521 (GRCm39) L297P probably damaging Het
Cyp4a31 G A 4: 115,422,225 (GRCm39) E70K probably benign Het
Dhx8 T C 11: 101,623,958 (GRCm39) V31A unknown Het
Dis3l2 G T 1: 86,719,162 (GRCm39) G131* probably null Het
Dkk1 G A 19: 30,526,688 (GRCm39) A31V probably damaging Het
Dlx3 C T 11: 95,012,596 (GRCm39) R130* probably null Het
Dnajc24 T C 2: 105,832,315 (GRCm39) M23V probably benign Het
Dnmbp T A 19: 43,862,662 (GRCm39) N76I probably damaging Het
Ezh1 T C 11: 101,100,305 (GRCm39) N226S probably benign Het
Fabp9 C T 3: 10,259,047 (GRCm39) V120M possibly damaging Het
Fcrlb A G 1: 170,739,648 (GRCm39) C85R probably damaging Het
Gnai2 A C 9: 107,496,968 (GRCm39) L131R Het
Gprin1 A G 13: 54,885,764 (GRCm39) W837R probably damaging Het
Grm3 C T 5: 9,562,311 (GRCm39) C513Y probably damaging Het
H60c T A 10: 3,210,265 (GRCm39) I95F possibly damaging Het
Hecw1 A G 13: 14,531,743 (GRCm39) V177A possibly damaging Het
Herc6 T A 6: 57,624,134 (GRCm39) C635S probably benign Het
Itga4 A T 2: 79,112,125 (GRCm39) M347L probably benign Het
Kif20b A G 19: 34,914,752 (GRCm39) H436R probably benign Het
Klrg2 G T 6: 38,613,430 (GRCm39) P191Q possibly damaging Het
Krt5 A G 15: 101,618,742 (GRCm39) Y340H probably damaging Het
Map9 T A 3: 82,270,668 (GRCm39) H77Q possibly damaging Het
Mfsd13a A G 19: 46,356,557 (GRCm39) T221A probably benign Het
Myo10 C G 15: 25,799,572 (GRCm39) H1378Q probably damaging Het
Nkx6-1 T C 5: 101,807,513 (GRCm39) T290A possibly damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Notch1 T A 2: 26,368,004 (GRCm39) probably benign Het
Nr1d2 A T 14: 18,216,661 (GRCm38) M169K probably damaging Het
Or10ak8 C T 4: 118,774,635 (GRCm39) V10I probably benign Het
Or11g1 A G 14: 50,651,420 (GRCm39) M140V possibly damaging Het
Or13c7c A G 4: 43,836,193 (GRCm39) V99A probably benign Het
Or6c69b A T 10: 129,626,562 (GRCm39) F299I possibly damaging Het
Or8b41 A G 9: 38,054,433 (GRCm39) M1V probably null Het
Pdia6 T A 12: 17,329,662 (GRCm39) I266K probably damaging Het
Phactr4 T C 4: 132,091,105 (GRCm39) probably null Het
Polr1b T A 2: 128,967,571 (GRCm39) L988Q probably damaging Het
Por A T 5: 135,763,112 (GRCm39) M541L probably benign Het
Ppid T C 3: 79,498,689 (GRCm39) probably benign Het
Prp2 A T 6: 132,577,322 (GRCm39) Q203L unknown Het
Psme4 T G 11: 30,759,896 (GRCm39) F340V probably damaging Het
Ptges2 T C 2: 32,290,077 (GRCm39) S164P probably damaging Het
Rab18 G A 18: 6,788,635 (GRCm39) G201S probably damaging Het
Rbm19 A G 5: 120,265,132 (GRCm39) E391G probably damaging Het
Rpn1 C A 6: 88,080,359 (GRCm39) Q553K possibly damaging Het
Sash1 A G 10: 8,609,459 (GRCm39) S697P probably damaging Het
Sdad1 T G 5: 92,437,645 (GRCm39) H603P probably damaging Het
Serpini1 T C 3: 75,520,544 (GRCm39) L47P probably damaging Het
Sorbs2 T A 8: 46,248,686 (GRCm39) S646T possibly damaging Het
Spdye4a T A 5: 143,210,754 (GRCm39) E105D probably benign Het
Srsf12 G A 4: 33,231,181 (GRCm39) C230Y possibly damaging Het
Stard9 A T 2: 120,531,595 (GRCm39) R2617S probably benign Het
Tas2r118 G T 6: 23,969,344 (GRCm39) T239K probably damaging Het
Tlr1 A G 5: 65,084,094 (GRCm39) L161P probably benign Het
Ttc21a T G 9: 119,772,977 (GRCm39) V218G possibly damaging Het
Ttc6 T C 12: 57,784,492 (GRCm39) S1854P probably benign Het
Unc93a A G 17: 13,341,852 (GRCm39) L93P probably damaging Het
Vcan A T 13: 89,839,217 (GRCm39) I2109N probably benign Het
Vmn1r225 A T 17: 20,723,419 (GRCm39) S287C probably damaging Het
Vmn1r43 A G 6: 89,847,321 (GRCm39) F55S probably damaging Het
Zfp772 T C 7: 7,208,518 (GRCm39) T109A possibly damaging Het
Zfp87 A G 13: 74,520,599 (GRCm39) Y160H probably damaging Het
Other mutations in Rcbtb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01981:Rcbtb2 APN 14 73,402,222 (GRCm39) missense possibly damaging 0.94
IGL02550:Rcbtb2 APN 14 73,399,459 (GRCm39) missense probably damaging 1.00
IGL02800:Rcbtb2 APN 14 73,405,543 (GRCm39) nonsense probably null
IGL02811:Rcbtb2 APN 14 73,411,851 (GRCm39) missense probably damaging 1.00
R0319:Rcbtb2 UTSW 14 73,415,909 (GRCm39) missense probably benign 0.04
R0390:Rcbtb2 UTSW 14 73,415,987 (GRCm39) missense probably damaging 0.96
R0448:Rcbtb2 UTSW 14 73,415,869 (GRCm39) splice site probably benign
R1298:Rcbtb2 UTSW 14 73,399,828 (GRCm39) missense probably damaging 0.99
R1567:Rcbtb2 UTSW 14 73,399,902 (GRCm39) missense probably benign 0.07
R2014:Rcbtb2 UTSW 14 73,411,826 (GRCm39) splice site probably benign
R2137:Rcbtb2 UTSW 14 73,399,491 (GRCm39) missense probably damaging 1.00
R2218:Rcbtb2 UTSW 14 73,416,005 (GRCm39) critical splice donor site probably null
R4505:Rcbtb2 UTSW 14 73,411,345 (GRCm39) missense probably damaging 1.00
R5832:Rcbtb2 UTSW 14 73,404,262 (GRCm39) missense possibly damaging 0.95
R5898:Rcbtb2 UTSW 14 73,399,405 (GRCm39) nonsense probably null
R6484:Rcbtb2 UTSW 14 73,414,490 (GRCm39) missense probably damaging 0.99
R7252:Rcbtb2 UTSW 14 73,404,220 (GRCm39) missense probably damaging 1.00
R7606:Rcbtb2 UTSW 14 73,419,806 (GRCm39) splice site probably null
R7654:Rcbtb2 UTSW 14 73,411,941 (GRCm39) missense probably benign 0.00
R7762:Rcbtb2 UTSW 14 73,415,906 (GRCm39) missense probably benign
R7951:Rcbtb2 UTSW 14 73,403,992 (GRCm39) nonsense probably null
R7960:Rcbtb2 UTSW 14 73,399,384 (GRCm39) missense probably benign 0.01
R8086:Rcbtb2 UTSW 14 73,411,305 (GRCm39) missense probably damaging 1.00
R8366:Rcbtb2 UTSW 14 73,444,632 (GRCm39) missense probably benign 0.00
R9206:Rcbtb2 UTSW 14 73,414,500 (GRCm39) missense probably damaging 1.00
R9208:Rcbtb2 UTSW 14 73,414,500 (GRCm39) missense probably damaging 1.00
R9237:Rcbtb2 UTSW 14 73,411,936 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGGAGAGGTAGGAAAGTTGTTTC -3'
(R):5'- TTTCCAGGACAGCTCACACC -3'

Sequencing Primer
(F):5'- CTCCGTAGTGTCACATAAGCATGG -3'
(R):5'- GGACAGCTCACACCAGGAC -3'
Posted On 2021-04-30