Incidental Mutation 'IGL01981:Rcbtb2'
ID 183500
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # IGL01981
Quality Score
Status
Chromosome 14
Chromosomal Location 73376185-73421495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73402222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 136 (S136P)
Ref Sequence ENSEMBL: ENSMUSP00000126651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022702] [ENSMUST00000110952] [ENSMUST00000163339] [ENSMUST00000163533] [ENSMUST00000163797] [ENSMUST00000164298] [ENSMUST00000165567] [ENSMUST00000164822] [ENSMUST00000165429] [ENSMUST00000169479] [ENSMUST00000170677] [ENSMUST00000169513] [ENSMUST00000165727] [ENSMUST00000167401] [ENSMUST00000167021] [ENSMUST00000171070] [ENSMUST00000170368] [ENSMUST00000170370] [ENSMUST00000171767]
AlphaFold Q99LJ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000022702
AA Change: S150P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022702
Gene: ENSMUSG00000022106
AA Change: S150P

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 possibly damaging
Transcript: ENSMUST00000110952
AA Change: S150P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106577
Gene: ENSMUSG00000022106
AA Change: S150P

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 silent
Transcript: ENSMUST00000163533
SMART Domains Protein: ENSMUSP00000130828
Gene: ENSMUSG00000022106

DomainStartEndE-ValueType
Pfam:RCC1 117 150 4.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163797
SMART Domains Protein: ENSMUSP00000132125
Gene: ENSMUSG00000022106

DomainStartEndE-ValueType
Pfam:RCC1 136 174 7.7e-12 PFAM
low complexity region 199 207 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164298
AA Change: S136P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126651
Gene: ENSMUSG00000022106
AA Change: S136P

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 possibly damaging
Transcript: ENSMUST00000165567
AA Change: S150P

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130240
Gene: ENSMUSG00000022106
AA Change: S150P

DomainStartEndE-ValueType
Pfam:RCC1 117 167 5.3e-17 PFAM
Pfam:RCC1_2 154 172 6.7e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000164822
AA Change: S150P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131588
Gene: ENSMUSG00000022106
AA Change: S150P

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 possibly damaging
Transcript: ENSMUST00000165429
AA Change: S126P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127258
Gene: ENSMUSG00000022106
AA Change: S126P

DomainStartEndE-ValueType
Pfam:RCC1 93 143 4.4e-17 PFAM
Pfam:RCC1_2 130 157 5.2e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169479
AA Change: S150P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126898
Gene: ENSMUSG00000022106
AA Change: S150P

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 possibly damaging
Transcript: ENSMUST00000170677
AA Change: S126P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126510
Gene: ENSMUSG00000022106
AA Change: S126P

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 possibly damaging
Transcript: ENSMUST00000169513
AA Change: S126P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128579
Gene: ENSMUSG00000022106
AA Change: S126P

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: 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: ENSMUST00000167401
Predicted Effect probably benign
Transcript: ENSMUST00000167021
Predicted Effect probably benign
Transcript: ENSMUST00000171070
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 possibly damaging
Transcript: ENSMUST00000171767
AA Change: S150P

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127397
Gene: ENSMUSG00000022106
AA Change: S150P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171163
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Rcbtb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8696:Rcbtb2 UTSW 14 73,404,305 (GRCm39) missense probably damaging 0.99
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
Posted On 2014-05-07