Incidental Mutation 'R2137:Rcbtb2'
ID 235910
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 040140-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R2137 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 73376185-73421495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73399491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 52 (G52S)
Ref Sequence ENSEMBL: ENSMUSP00000130732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022702] [ENSMUST00000110952] [ENSMUST00000163339] [ENSMUST00000163533] [ENSMUST00000163797] [ENSMUST00000164298] [ENSMUST00000164822] [ENSMUST00000167401] [ENSMUST00000165567] [ENSMUST00000171070] [ENSMUST00000165429] [ENSMUST00000170370] [ENSMUST00000169479] [ENSMUST00000170368] [ENSMUST00000171767] [ENSMUST00000170677] [ENSMUST00000169513] [ENSMUST00000167021] [ENSMUST00000165727]
AlphaFold Q99LJ7
Predicted Effect probably damaging
Transcript: ENSMUST00000022702
AA Change: G52S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022702
Gene: ENSMUSG00000022106
AA Change: G52S

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: G52S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106577
Gene: ENSMUSG00000022106
AA Change: G52S

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 damaging
Transcript: ENSMUST00000163533
AA Change: G52S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130828
Gene: ENSMUSG00000022106
AA Change: G52S

DomainStartEndE-ValueType
Pfam:RCC1 117 150 4.3e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163797
AA Change: G38S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132125
Gene: ENSMUSG00000022106
AA Change: G38S

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: G38S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126651
Gene: ENSMUSG00000022106
AA Change: G38S

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: G52S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131588
Gene: ENSMUSG00000022106
AA Change: G52S

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: ENSMUST00000167401
AA Change: G52S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000165567
AA Change: G52S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130240
Gene: ENSMUSG00000022106
AA Change: G52S

DomainStartEndE-ValueType
Pfam:RCC1 117 167 5.3e-17 PFAM
Pfam:RCC1_2 154 172 6.7e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171070
AA Change: G52S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000165429
AA Change: G28S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127258
Gene: ENSMUSG00000022106
AA Change: G28S

DomainStartEndE-ValueType
Pfam:RCC1 93 143 4.4e-17 PFAM
Pfam:RCC1_2 130 157 5.2e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170370
AA Change: G52S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130732
Gene: ENSMUSG00000022106
AA Change: G52S

DomainStartEndE-ValueType
SCOP:d1a12a_ 45 128 1e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169479
AA Change: G52S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126898
Gene: ENSMUSG00000022106
AA Change: G52S

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: ENSMUST00000170368
AA Change: G52S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126276
Gene: ENSMUSG00000022106
AA Change: G52S

DomainStartEndE-ValueType
SCOP:d1a12a_ 45 86 9e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171767
AA Change: G52S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127397
Gene: ENSMUSG00000022106
AA Change: G52S

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 probably damaging
Transcript: ENSMUST00000170677
AA Change: G28S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126510
Gene: ENSMUSG00000022106
AA Change: G28S

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 damaging
Transcript: ENSMUST00000169513
AA Change: G28S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128579
Gene: ENSMUSG00000022106
AA Change: G28S

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 noncoding transcript
Transcript: ENSMUST00000171163
Predicted Effect probably benign
Transcript: ENSMUST00000167021
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
Meta Mutation Damage Score 0.3483 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (60/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 C T 10: 81,482,143 (GRCm39) T88I probably damaging Het
Atm A T 9: 53,364,675 (GRCm39) V49D probably damaging Het
Bub1b G T 2: 118,467,199 (GRCm39) E841* probably null Het
Cdh20 A T 1: 110,027,836 (GRCm39) N527I probably damaging Het
Cdh22 G A 2: 164,958,314 (GRCm39) probably benign Het
Cog1 T C 11: 113,550,127 (GRCm39) L262P probably damaging Het
Col22a1 T C 15: 71,878,797 (GRCm39) H120R possibly damaging Het
Col4a2 T C 8: 11,483,749 (GRCm39) S890P probably benign Het
Cubn T C 2: 13,340,978 (GRCm39) I2248V probably benign Het
Evpl T C 11: 116,112,665 (GRCm39) E1675G probably damaging Het
Faiml G A 9: 99,114,545 (GRCm39) P115S probably benign Het
Fgg A T 3: 82,915,745 (GRCm39) D62V possibly damaging Het
Gak C T 5: 108,754,743 (GRCm39) probably null Het
Galntl6 C T 8: 58,988,939 (GRCm39) probably null Het
Glyr1 T C 16: 4,836,346 (GRCm39) Y501C probably benign Het
Gm9847 G T 12: 14,545,082 (GRCm39) noncoding transcript Het
Gria4 T G 9: 4,427,026 (GRCm39) probably benign Het
Il36b A G 2: 24,044,672 (GRCm39) N24S probably benign Het
Il6st C A 13: 112,639,392 (GRCm39) H606N possibly damaging Het
Itprid1 A G 6: 55,866,174 (GRCm39) Q189R probably damaging Het
Kctd10 A G 5: 114,505,389 (GRCm39) F202L probably damaging Het
Kif17 T A 4: 137,989,978 (GRCm39) D55E probably damaging Het
Klf1 C T 8: 85,629,775 (GRCm39) A200V possibly damaging Het
Klhl32 A T 4: 24,629,275 (GRCm39) Y497* probably null Het
Kng2 G T 16: 22,816,076 (GRCm39) probably benign Het
Lats1 T C 10: 7,577,611 (GRCm39) V245A possibly damaging Het
Mbd3l2 A T 9: 18,356,254 (GRCm39) D193V probably damaging Het
Ms4a18 A T 19: 10,974,695 (GRCm39) V332D possibly damaging Het
Mss51 T C 14: 20,537,591 (GRCm39) I47V probably benign Het
Myoz2 G A 3: 122,827,861 (GRCm39) T19M probably benign Het
Nampt T A 12: 32,880,309 (GRCm39) N67K probably benign Het
Ncor2 A T 5: 125,107,776 (GRCm39) I1607K probably damaging Het
Nudt4 T C 10: 95,399,600 (GRCm39) Q7R probably damaging Het
Or5b119 A G 19: 13,457,173 (GRCm39) Y130H probably damaging Het
Or5b121 T A 19: 13,507,802 (GRCm39) I255N probably damaging Het
Or8b12i T A 9: 20,082,463 (GRCm39) I135F probably damaging Het
Pgm2 A T 5: 64,273,709 (GRCm39) M565L probably benign Het
Phactr1 T G 13: 43,288,651 (GRCm39) F639V possibly damaging Het
Plod3 C A 5: 137,017,571 (GRCm39) R165S probably damaging Het
Polr2b T A 5: 77,468,193 (GRCm39) N164K probably benign Het
Rfc1 A G 5: 65,468,382 (GRCm39) probably null Het
Rheb A G 5: 25,012,601 (GRCm39) probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Ripor2 G A 13: 24,905,817 (GRCm39) probably null Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scg3 A T 9: 75,584,092 (GRCm39) D136E probably damaging Het
Slc10a4 C T 5: 73,164,923 (GRCm39) L172F probably damaging Het
Slc35c2 A G 2: 165,123,299 (GRCm39) Y113H probably damaging Het
Slc47a1 T A 11: 61,235,318 (GRCm39) D505V probably benign Het
Snap29 C A 16: 17,246,113 (GRCm39) D244E possibly damaging Het
Taar1 T C 10: 23,797,168 (GRCm39) F289L probably benign Het
Thbs2 T A 17: 14,893,568 (GRCm39) N871Y probably damaging Het
Tmem108 T A 9: 103,377,162 (GRCm39) T96S possibly damaging Het
Tnk2 G T 16: 32,489,620 (GRCm39) probably null Het
Trak1 T A 9: 121,302,028 (GRCm39) M928K possibly damaging Het
Tuba3b A G 6: 145,564,559 (GRCm39) I110V probably benign Het
Tyk2 A G 9: 21,022,281 (GRCm39) probably benign Het
Ugt1a9 T A 1: 87,998,759 (GRCm39) C70S probably benign Het
Vmn2r10 A T 5: 109,151,410 (GRCm39) I68K possibly damaging Het
Wfs1 T C 5: 37,124,845 (GRCm39) E682G probably damaging Het
Zfp213 T C 17: 23,778,481 (GRCm39) probably null Het
Zfp809 T C 9: 22,146,434 (GRCm39) V41A probably benign Het
Zfp831 A G 2: 174,547,539 (GRCm39) K1574R possibly 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
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
Predicted Primers PCR Primer
(F):5'- TTCAGGCCAGGTTAATGACTCTG -3'
(R):5'- AGCAAACTGCCTCGTCACAG -3'

Sequencing Primer
(F):5'- CCAGGTTAATGACTCTGGAGAAAC -3'
(R):5'- AGTTTCCCTGGATGTCTTC -3'
Posted On 2014-10-01