Incidental Mutation 'R0625:Phc2'
ID 57407
Institutional Source Beutler Lab
Gene Symbol Phc2
Ensembl Gene ENSMUSG00000028796
Gene Name polyhomeotic 2
Synonyms D4Ertd810e, Mph2, Edr2, D130050K19Rik
MMRRC Submission 038814-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0625 (G1)
Quality Score 192
Status Not validated
Chromosome 4
Chromosomal Location 128548495-128646674 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 128617503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Aspartic acid at position 510 (H510D)
Ref Sequence ENSEMBL: ENSMUSP00000101690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030588] [ENSMUST00000106079] [ENSMUST00000106080] [ENSMUST00000120946] [ENSMUST00000133439] [ENSMUST00000134421] [ENSMUST00000143632] [ENSMUST00000138445] [ENSMUST00000147572]
AlphaFold Q9QWH1
Predicted Effect possibly damaging
Transcript: ENSMUST00000030588
AA Change: H510D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796
AA Change: H510D

DomainStartEndE-ValueType
low complexity region 15 41 N/A INTRINSIC
low complexity region 74 119 N/A INTRINSIC
low complexity region 126 152 N/A INTRINSIC
low complexity region 232 248 N/A INTRINSIC
low complexity region 257 269 N/A INTRINSIC
low complexity region 343 367 N/A INTRINSIC
low complexity region 487 499 N/A INTRINSIC
low complexity region 529 543 N/A INTRINSIC
Pfam:PHC2_SAM_assoc 662 781 2.6e-55 PFAM
SAM 783 850 8.53e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106079
SMART Domains Protein: ENSMUSP00000101689
Gene: ENSMUSG00000028796

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDB:2L8E|A 105 135 1e-6 PDB
low complexity region 216 228 N/A INTRINSIC
SAM 256 323 8.53e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106080
AA Change: H510D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796
AA Change: H510D

DomainStartEndE-ValueType
low complexity region 15 41 N/A INTRINSIC
low complexity region 74 119 N/A INTRINSIC
low complexity region 126 152 N/A INTRINSIC
low complexity region 232 248 N/A INTRINSIC
low complexity region 257 269 N/A INTRINSIC
low complexity region 343 367 N/A INTRINSIC
low complexity region 487 499 N/A INTRINSIC
low complexity region 529 543 N/A INTRINSIC
PDB:2L8E|A 632 662 4e-7 PDB
low complexity region 743 755 N/A INTRINSIC
SAM 783 850 8.53e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120946
Predicted Effect probably benign
Transcript: ENSMUST00000133439
SMART Domains Protein: ENSMUSP00000117163
Gene: ENSMUSG00000028796

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134421
SMART Domains Protein: ENSMUSP00000123307
Gene: ENSMUSG00000028796

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDB:2L8E|A 105 135 6e-7 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155653
Predicted Effect probably benign
Transcript: ENSMUST00000143632
Predicted Effect probably benign
Transcript: ENSMUST00000138445
Predicted Effect probably benign
Transcript: ENSMUST00000147572
SMART Domains Protein: ENSMUSP00000118298
Gene: ENSMUSG00000028796

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDB:2L8E|A 105 135 8e-7 PDB
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele have normal skulls but exhibit posterior homeotic transformations of the axial skeleton. Cultured mouse embryonic fibroblasts show defects in proliferation and premature senescence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,319,365 (GRCm39) S2P probably benign Het
Abca16 A C 7: 120,035,116 (GRCm39) T301P probably damaging Het
Acer2 A G 4: 86,805,399 (GRCm39) D121G possibly damaging Het
Adgrd1 T C 5: 129,248,995 (GRCm39) probably null Het
Arhgap11a T C 2: 113,672,056 (GRCm39) I249V probably benign Het
Arhgap22 A G 14: 33,088,671 (GRCm39) E219G probably benign Het
C2cd4b T A 9: 67,667,033 (GRCm39) S10T probably benign Het
Cnot6 A T 11: 49,573,998 (GRCm39) I224N probably damaging Het
Ctrc T C 4: 141,568,829 (GRCm39) T125A probably damaging Het
Cxxc5 T G 18: 35,991,642 (GRCm39) S14R unknown Het
Cyp4f37 T G 17: 32,853,652 (GRCm39) F445L probably damaging Het
Dcbld1 T G 10: 52,188,946 (GRCm39) I186S probably benign Het
Dmxl2 T C 9: 54,289,986 (GRCm39) T2510A probably benign Het
Dnah3 A G 7: 119,671,110 (GRCm39) I591T possibly damaging Het
Dock5 A T 14: 68,078,612 (GRCm39) I204N probably benign Het
Dysf G A 6: 84,088,969 (GRCm39) probably null Het
Erich5 A G 15: 34,471,515 (GRCm39) E248G probably damaging Het
Fhip1a A G 3: 85,637,807 (GRCm39) V164A possibly damaging Het
Foxm1 A G 6: 128,350,834 (GRCm39) S712G probably damaging Het
Frmpd1 A G 4: 45,284,055 (GRCm39) T959A probably benign Het
Gfra4 C T 2: 130,882,176 (GRCm39) V277I probably null Het
Hacd4 T C 4: 88,353,247 (GRCm39) I82V probably benign Het
Itih2 C T 2: 10,128,225 (GRCm39) V159I possibly damaging Het
Itpr2 T A 6: 146,068,149 (GRCm39) M2410L probably benign Het
Marchf11 A G 15: 26,311,129 (GRCm39) I202V probably damaging Het
Marchf3 A G 18: 56,944,902 (GRCm39) probably null Het
Med12l G A 3: 59,154,858 (GRCm39) E1135K probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mlx T C 11: 100,978,608 (GRCm39) L78P possibly damaging Het
Muc5b T C 7: 141,400,164 (GRCm39) C473R unknown Het
N4bp2l1 T A 5: 150,500,210 (GRCm39) R66* probably null Het
Nes A G 3: 87,884,479 (GRCm39) T913A possibly damaging Het
Oas1a T C 5: 121,037,322 (GRCm39) E235G probably damaging Het
Or5p56 T C 7: 107,590,396 (GRCm39) S275P probably damaging Het
Or8b1c T C 9: 38,384,504 (GRCm39) S154P possibly damaging Het
Or8i2 T A 2: 86,851,964 (GRCm39) H308L probably benign Het
Parn C T 16: 13,458,158 (GRCm39) V286I probably benign Het
Paxip1 G A 5: 27,970,940 (GRCm39) Q470* probably null Het
Pla2g4f T A 2: 120,135,522 (GRCm39) D384V probably damaging Het
Plpbp A T 8: 27,535,159 (GRCm39) N68I probably damaging Het
Podxl2 G A 6: 88,826,937 (GRCm39) A123V possibly damaging Het
Pole A T 5: 110,473,416 (GRCm39) T1737S possibly damaging Het
Ppp3cc T C 14: 70,462,476 (GRCm39) E396G probably damaging Het
Pramel7 T A 2: 87,321,352 (GRCm39) I228F probably benign Het
Prl7d1 A T 13: 27,894,123 (GRCm39) C149S probably benign Het
Qtrt1 G T 9: 21,329,584 (GRCm39) M217I probably benign Het
Sec24a T A 11: 51,620,281 (GRCm39) D456V probably damaging Het
Shox2 T G 3: 66,888,877 (GRCm39) probably null Het
Skint2 T A 4: 112,481,283 (GRCm39) S49T probably damaging Het
Smarca5 A G 8: 81,447,315 (GRCm39) probably null Het
Sorcs2 T A 5: 36,181,916 (GRCm39) D1068V possibly damaging Het
Tmem114 T C 16: 8,229,966 (GRCm39) probably null Het
Ttc7b T A 12: 100,321,305 (GRCm39) M24L probably benign Het
Ttll3 A G 6: 113,385,864 (GRCm39) probably null Het
Usp7 C T 16: 8,522,846 (GRCm39) D102N probably benign Het
Other mutations in Phc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00727:Phc2 APN 4 128,639,637 (GRCm39) missense probably damaging 1.00
IGL01470:Phc2 APN 4 128,616,903 (GRCm39) missense probably benign 0.00
IGL02171:Phc2 APN 4 128,604,858 (GRCm39) missense probably damaging 1.00
IGL02884:Phc2 APN 4 128,601,809 (GRCm39) missense probably damaging 1.00
I1329:Phc2 UTSW 4 128,604,906 (GRCm39) missense probably damaging 0.98
PIT4696001:Phc2 UTSW 4 128,598,995 (GRCm39) missense probably damaging 1.00
R0483:Phc2 UTSW 4 128,617,100 (GRCm39) unclassified probably benign
R1392:Phc2 UTSW 4 128,638,880 (GRCm39) missense possibly damaging 0.63
R1392:Phc2 UTSW 4 128,638,880 (GRCm39) missense possibly damaging 0.63
R1429:Phc2 UTSW 4 128,637,348 (GRCm39) missense probably damaging 1.00
R1701:Phc2 UTSW 4 128,645,400 (GRCm39) missense probably damaging 1.00
R1820:Phc2 UTSW 4 128,637,336 (GRCm39) missense probably damaging 0.99
R2011:Phc2 UTSW 4 128,617,378 (GRCm39) missense probably benign 0.27
R2063:Phc2 UTSW 4 128,640,929 (GRCm39) missense probably damaging 1.00
R2064:Phc2 UTSW 4 128,640,929 (GRCm39) missense probably damaging 1.00
R2065:Phc2 UTSW 4 128,640,929 (GRCm39) missense probably damaging 1.00
R2066:Phc2 UTSW 4 128,640,929 (GRCm39) missense probably damaging 1.00
R2067:Phc2 UTSW 4 128,640,929 (GRCm39) missense probably damaging 1.00
R2152:Phc2 UTSW 4 128,638,859 (GRCm39) makesense probably null
R2375:Phc2 UTSW 4 128,616,818 (GRCm39) missense probably benign
R2430:Phc2 UTSW 4 128,601,776 (GRCm39) missense probably damaging 1.00
R3910:Phc2 UTSW 4 128,637,351 (GRCm39) critical splice donor site probably null
R3911:Phc2 UTSW 4 128,637,351 (GRCm39) critical splice donor site probably null
R3941:Phc2 UTSW 4 128,641,037 (GRCm39) critical splice donor site probably null
R4108:Phc2 UTSW 4 128,601,776 (GRCm39) missense probably damaging 1.00
R4585:Phc2 UTSW 4 128,637,303 (GRCm39) missense probably damaging 1.00
R4731:Phc2 UTSW 4 128,601,764 (GRCm39) missense probably damaging 1.00
R4801:Phc2 UTSW 4 128,645,391 (GRCm39) missense probably damaging 1.00
R4802:Phc2 UTSW 4 128,645,391 (GRCm39) missense probably damaging 1.00
R4948:Phc2 UTSW 4 128,616,908 (GRCm39) missense probably benign 0.00
R5498:Phc2 UTSW 4 128,602,787 (GRCm39) missense probably benign 0.37
R5712:Phc2 UTSW 4 128,638,888 (GRCm39) missense probably damaging 1.00
R5742:Phc2 UTSW 4 128,639,661 (GRCm39) missense probably damaging 1.00
R6272:Phc2 UTSW 4 128,603,440 (GRCm39) missense probably damaging 1.00
R6298:Phc2 UTSW 4 128,641,982 (GRCm39) missense possibly damaging 0.91
R6348:Phc2 UTSW 4 128,598,944 (GRCm39) missense probably benign 0.00
R6630:Phc2 UTSW 4 128,617,423 (GRCm39) missense probably damaging 0.97
R6925:Phc2 UTSW 4 128,641,927 (GRCm39) missense probably damaging 1.00
R7067:Phc2 UTSW 4 128,640,934 (GRCm39) missense probably benign 0.02
R7396:Phc2 UTSW 4 128,641,954 (GRCm39) missense probably benign 0.21
R7585:Phc2 UTSW 4 128,604,932 (GRCm39) missense probably benign 0.35
R7590:Phc2 UTSW 4 128,641,820 (GRCm39) missense probably damaging 1.00
R7723:Phc2 UTSW 4 128,616,882 (GRCm39) missense probably benign 0.33
R7949:Phc2 UTSW 4 128,603,401 (GRCm39) missense probably damaging 0.97
R7995:Phc2 UTSW 4 128,603,401 (GRCm39) missense probably damaging 0.97
R8053:Phc2 UTSW 4 128,603,433 (GRCm39) nonsense probably null
R8078:Phc2 UTSW 4 128,604,855 (GRCm39) missense probably damaging 1.00
R8209:Phc2 UTSW 4 128,603,299 (GRCm39) missense probably benign 0.03
R8331:Phc2 UTSW 4 128,605,987 (GRCm39) nonsense probably null
R9058:Phc2 UTSW 4 128,616,769 (GRCm39) missense probably benign 0.01
R9228:Phc2 UTSW 4 128,617,062 (GRCm39) missense probably damaging 1.00
R9653:Phc2 UTSW 4 128,641,012 (GRCm39) missense probably damaging 1.00
X0012:Phc2 UTSW 4 128,602,845 (GRCm39) missense probably damaging 0.99
X0017:Phc2 UTSW 4 128,617,065 (GRCm39) missense probably damaging 0.99
X0023:Phc2 UTSW 4 128,601,836 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GAATCTTTGCATCTTTGCCCGAGC -3'
(R):5'- ACTGGTCACTCAGAGAGACAGATGG -3'

Sequencing Primer
(F):5'- CCAGGGTAGTGTCCGAGAAC -3'
(R):5'- CTCAGAGATGCTTCTGGCAAG -3'
Posted On 2013-07-11