Incidental Mutation 'R6001:Pcgf2'
ID 480844
Institutional Source Beutler Lab
Gene Symbol Pcgf2
Ensembl Gene ENSMUSG00000018537
Gene Name polycomb group ring finger 2
Synonyms mel-18, Mel18, Zfp144, Rnf110
MMRRC Submission 044180-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 97579649-97591323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97583606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 52 (Y52C)
Ref Sequence ENSEMBL: ENSMUSP00000137517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018681] [ENSMUST00000103148] [ENSMUST00000103149] [ENSMUST00000107583] [ENSMUST00000107584] [ENSMUST00000107585] [ENSMUST00000169807] [ENSMUST00000179765]
AlphaFold P23798
Predicted Effect possibly damaging
Transcript: ENSMUST00000018681
AA Change: Y52C

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018681
Gene: ENSMUSG00000018537
AA Change: Y52C

DomainStartEndE-ValueType
RING 18 56 4.99e-5 SMART
low complexity region 263 318 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000103148
AA Change: Y52C

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099437
Gene: ENSMUSG00000018537
AA Change: Y52C

DomainStartEndE-ValueType
RING 18 56 4.99e-5 SMART
low complexity region 263 318 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103149
SMART Domains Protein: ENSMUSP00000099438
Gene: ENSMUSG00000018537

DomainStartEndE-ValueType
low complexity region 79 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107583
SMART Domains Protein: ENSMUSP00000103209
Gene: ENSMUSG00000078695

DomainStartEndE-ValueType
ZnF_CDGSH 54 88 3.39e-9 SMART
ZnF_CDGSH 92 129 5.55e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107584
SMART Domains Protein: ENSMUSP00000103210
Gene: ENSMUSG00000078695

DomainStartEndE-ValueType
ZnF_CDGSH 32 66 3.39e-9 SMART
ZnF_CDGSH 70 107 5.55e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107585
SMART Domains Protein: ENSMUSP00000103211
Gene: ENSMUSG00000078695

DomainStartEndE-ValueType
low complexity region 18 29 N/A INTRINSIC
ZnF_CDGSH 51 85 3.39e-9 SMART
ZnF_CDGSH 89 126 5.55e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169807
AA Change: Y52C

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126967
Gene: ENSMUSG00000018537
AA Change: Y52C

DomainStartEndE-ValueType
RING 18 56 4.99e-5 SMART
Pfam:RAWUL 146 228 1.9e-26 PFAM
low complexity region 263 318 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000179765
AA Change: Y52C

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137517
Gene: ENSMUSG00000018537
AA Change: Y52C

DomainStartEndE-ValueType
RING 18 56 4.99e-5 SMART
low complexity region 263 318 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134003
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit multiple abnormalities of the axial skeleton (including homeotic transformations), grow markedly slower, and die either perinatally or between 3-6 weeks of age depending on genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G T 4: 53,075,555 (GRCm39) R999S possibly damaging Het
Ankrd31 T A 13: 96,962,717 (GRCm39) Y503N probably damaging Het
Anks4b A G 7: 119,781,941 (GRCm39) E324G probably benign Het
Arhgap44 CTGCT CTGCTTGCT 11: 64,922,910 (GRCm39) probably null Het
Atl1 A T 12: 69,979,057 (GRCm39) T162S possibly damaging Het
Atp2b2 A G 6: 113,770,728 (GRCm39) Y394H probably damaging Het
Dennd2d A G 3: 106,399,776 (GRCm39) H233R probably benign Het
Dhx16 G T 17: 36,194,766 (GRCm39) M462I probably damaging Het
Hif3a T C 7: 16,784,486 (GRCm39) Y253C probably damaging Het
Hsf4 G A 8: 105,999,541 (GRCm39) G277R possibly damaging Het
Impg1 T C 9: 80,223,454 (GRCm39) D754G probably benign Het
Keap1 T C 9: 21,142,135 (GRCm39) S580G possibly damaging Het
Lrp6 T C 6: 134,441,481 (GRCm39) K1162E probably benign Het
Lrrc31 C T 3: 30,745,318 (GRCm39) V110I possibly damaging Het
Muc5b G T 7: 141,426,118 (GRCm39) K4738N possibly damaging Het
Myo1a G T 10: 127,542,794 (GRCm39) probably null Het
Odad2 T C 18: 7,286,838 (GRCm39) D131G probably benign Het
Or10q1b A G 19: 13,682,424 (GRCm39) T78A probably damaging Het
Or52z14 T A 7: 103,253,179 (GRCm39) M106K probably damaging Het
Or7g19 A T 9: 18,856,340 (GRCm39) Y132F probably damaging Het
Parp4 A T 14: 56,878,740 (GRCm39) H1225L probably benign Het
Pkn3 T C 2: 29,978,596 (GRCm39) probably null Het
Psen2 C A 1: 180,073,234 (GRCm39) R29L possibly damaging Het
Rfx6 A G 10: 51,594,307 (GRCm39) probably null Het
Rps13 T C 7: 115,930,808 (GRCm39) T145A probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rsf1 A ACGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Smarca4 C T 9: 21,544,205 (GRCm39) probably benign Het
Stat4 A T 1: 52,136,026 (GRCm39) E445V probably damaging Het
Taf13 T A 3: 108,488,387 (GRCm39) I90N probably damaging Het
Tas2r124 T A 6: 132,732,416 (GRCm39) Y242N probably damaging Het
Tmem151b T C 17: 45,856,711 (GRCm39) Y243C probably damaging Het
Wasl T C 6: 24,619,573 (GRCm39) T316A unknown Het
Zbtb44 T C 9: 30,965,090 (GRCm39) C167R probably damaging Het
Zc3h7b T C 15: 81,676,236 (GRCm39) L714P possibly damaging Het
Zfp35 T A 18: 24,135,816 (GRCm39) H53Q probably benign Het
Zfp804b A G 5: 6,819,043 (GRCm39) V1340A probably benign Het
Other mutations in Pcgf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Pcgf2 APN 11 97,581,066 (GRCm39) missense probably benign 0.01
IGL01877:Pcgf2 APN 11 97,583,359 (GRCm39) missense probably damaging 1.00
IGL02473:Pcgf2 APN 11 97,582,747 (GRCm39) splice site probably benign
R0243:Pcgf2 UTSW 11 97,583,244 (GRCm39) splice site probably null
R0522:Pcgf2 UTSW 11 97,582,873 (GRCm39) missense probably benign 0.31
R0712:Pcgf2 UTSW 11 97,581,830 (GRCm39) missense probably damaging 1.00
R0781:Pcgf2 UTSW 11 97,582,676 (GRCm39) splice site probably benign
R1110:Pcgf2 UTSW 11 97,582,676 (GRCm39) splice site probably benign
R4295:Pcgf2 UTSW 11 97,584,282 (GRCm39) nonsense probably null
R4959:Pcgf2 UTSW 11 97,582,515 (GRCm39) missense possibly damaging 0.85
R5569:Pcgf2 UTSW 11 97,583,193 (GRCm39) critical splice donor site probably null
R5622:Pcgf2 UTSW 11 97,581,078 (GRCm39) missense probably damaging 1.00
R5779:Pcgf2 UTSW 11 97,581,117 (GRCm39) missense probably damaging 1.00
R6090:Pcgf2 UTSW 11 97,581,817 (GRCm39) missense possibly damaging 0.71
R6360:Pcgf2 UTSW 11 97,583,235 (GRCm39) splice site probably null
R8228:Pcgf2 UTSW 11 97,582,865 (GRCm39) missense probably benign 0.00
R8309:Pcgf2 UTSW 11 97,582,569 (GRCm39) missense probably benign 0.09
Z1176:Pcgf2 UTSW 11 97,580,847 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAGCAACCACGGGTCCTTC -3'
(R):5'- CAACAGCCCAGATGTGTGGATG -3'

Sequencing Primer
(F):5'- TTCATCTCGCTAGCCGGG -3'
(R):5'- CCCAGATGTGTGGATGCGTATTG -3'
Posted On 2017-06-26