Incidental Mutation 'R4585:Phc2'
ID 343997
Institutional Source Beutler Lab
Gene Symbol Phc2
Ensembl Gene ENSMUSG00000028796
Gene Name polyhomeotic 2
Synonyms D4Ertd810e, Mph2, Edr2, D130050K19Rik
MMRRC Submission 041806-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4585 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 128548495-128646674 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128637303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 563 (H563L)
Ref Sequence ENSEMBL: ENSMUSP00000101690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030588] [ENSMUST00000106079] [ENSMUST00000106080] [ENSMUST00000120946] [ENSMUST00000133439] [ENSMUST00000134421] [ENSMUST00000138445] [ENSMUST00000147572] [ENSMUST00000143632]
AlphaFold Q9QWH1
Predicted Effect probably damaging
Transcript: ENSMUST00000030588
AA Change: H563L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796
AA Change: H563L

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 damaging
Transcript: ENSMUST00000106079
AA Change: H36L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101689
Gene: ENSMUSG00000028796
AA Change: H36L

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 probably damaging
Transcript: ENSMUST00000106080
AA Change: H563L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796
AA Change: H563L

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 unknown
Transcript: ENSMUST00000133439
AA Change: H36L
SMART Domains Protein: ENSMUSP00000117163
Gene: ENSMUSG00000028796
AA Change: H36L

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000134421
AA Change: H36L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123307
Gene: ENSMUSG00000028796
AA Change: H36L

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDB:2L8E|A 105 135 6e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000138445
Predicted Effect probably damaging
Transcript: ENSMUST00000147572
AA Change: H36L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118298
Gene: ENSMUSG00000028796
AA Change: H36L

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDB:2L8E|A 105 135 8e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000143632
Meta Mutation Damage Score 0.9175 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (90/91)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T C 5: 4,026,151 (GRCm39) S1269P probably benign Het
Akr7a5 G T 4: 139,038,238 (GRCm39) R58L probably benign Het
Art2a A T 7: 101,203,956 (GRCm39) L194* probably null Het
Aurkaip1 C A 4: 155,917,091 (GRCm39) A113D possibly damaging Het
Bsn T C 9: 107,987,662 (GRCm39) probably benign Het
Ccdc175 T G 12: 72,221,953 (GRCm39) D123A possibly damaging Het
Ccdc7b A G 8: 129,837,401 (GRCm39) T131A probably benign Het
Ccnt2 T C 1: 127,730,766 (GRCm39) S548P probably damaging Het
Cep126 T C 9: 8,103,338 (GRCm39) Q224R probably damaging Het
Cic A T 7: 24,972,203 (GRCm39) I645L probably benign Het
Cngb1 C T 8: 96,023,756 (GRCm39) probably null Het
Col13a1 T C 10: 61,723,024 (GRCm39) probably null Het
Corin A T 5: 72,487,042 (GRCm39) V706D probably damaging Het
Crebrf A G 17: 26,981,229 (GRCm39) K535R probably damaging Het
Cuzd1 G A 7: 130,916,529 (GRCm39) P310L probably damaging Het
Cxcr5 T A 9: 44,425,442 (GRCm39) I72F probably benign Het
Dapp1 T C 3: 137,644,932 (GRCm39) Q148R probably benign Het
Dcaf17 T A 2: 70,918,924 (GRCm39) S499R probably benign Het
Defb3 A T 8: 19,345,172 (GRCm39) I43F possibly damaging Het
Dlgap2 G A 8: 14,777,999 (GRCm39) probably null Het
Dnah8 A G 17: 30,970,541 (GRCm39) D2684G probably benign Het
Dnajc10 T G 2: 80,178,122 (GRCm39) F710V probably damaging Het
Ep400 G A 5: 110,901,725 (GRCm39) T464I probably damaging Het
Epc1 G A 18: 6,441,157 (GRCm39) Q14* probably null Het
Eral1 A T 11: 77,969,130 (GRCm39) N123K probably damaging Het
Ercc5 G A 1: 44,198,017 (GRCm39) V145I probably benign Het
Evc A G 5: 37,481,057 (GRCm39) S263P probably damaging Het
Fancc A T 13: 63,495,378 (GRCm39) M182K probably benign Het
Fbxl3 G T 14: 103,320,526 (GRCm39) A355E probably damaging Het
Glra3 C A 8: 56,542,028 (GRCm39) T257K probably damaging Het
Gm12789 A G 4: 101,847,159 (GRCm39) Y148C possibly damaging Het
Gm14393 C A 2: 174,904,497 (GRCm39) probably benign Het
Gm19965 T A 1: 116,749,508 (GRCm39) N396K probably benign Het
Gm27013 A T 6: 130,498,003 (GRCm39) noncoding transcript Het
Gmcl1 A G 6: 86,699,605 (GRCm39) S141P probably damaging Het
Gsdmd T A 15: 75,737,600 (GRCm39) probably null Het
Gtf2a1 C T 12: 91,529,700 (GRCm39) V338I possibly damaging Het
H2ac15 T C 13: 21,937,882 (GRCm39) N39S possibly damaging Het
Hap1 G A 11: 100,245,550 (GRCm39) T138M probably benign Het
Ints2 G T 11: 86,140,101 (GRCm39) R244S probably damaging Het
Itgb4 T C 11: 115,884,151 (GRCm39) V945A probably damaging Het
Itih2 C T 2: 10,115,211 (GRCm39) S387N probably benign Het
Klra2 T A 6: 131,207,120 (GRCm39) D163V probably benign Het
Lctl T C 9: 64,038,882 (GRCm39) S324P probably damaging Het
Lrrc24 C A 15: 76,607,889 (GRCm39) R43L probably damaging Het
Mogs G T 6: 83,095,619 (GRCm39) R812L possibly damaging Het
Mroh5 T A 15: 73,661,120 (GRCm39) T467S probably benign Het
Mtap G A 4: 89,090,511 (GRCm39) V194I probably benign Het
Myoz1 A G 14: 20,700,663 (GRCm39) W185R probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Obox1 A T 7: 15,290,152 (GRCm39) N165I possibly damaging Het
Or1j1 C T 2: 36,702,537 (GRCm39) C189Y probably damaging Het
Or4b1d T A 2: 89,968,558 (GRCm39) E308D probably benign Het
Or4c113 T G 2: 88,885,498 (GRCm39) I91L possibly damaging Het
Or6c35 A G 10: 129,169,142 (GRCm39) T131A probably benign Het
Pabpc6 A G 17: 9,888,002 (GRCm39) L183P probably damaging Het
Pcdh15 C T 10: 74,460,116 (GRCm39) R1355W probably damaging Het
Pcdhgb8 C A 18: 37,895,413 (GRCm39) A161E probably benign Het
Pex1 A G 5: 3,683,885 (GRCm39) Y1127C probably damaging Het
Plekha2 C A 8: 25,533,685 (GRCm39) E291* probably null Het
Qser1 C A 2: 104,617,138 (GRCm39) V1225L probably benign Het
Ralgapa2 A T 2: 146,156,944 (GRCm39) D1882E probably damaging Het
Rgs17 T C 10: 5,792,596 (GRCm39) D70G probably benign Het
Runx1t1 A T 4: 13,889,864 (GRCm39) T598S unknown Het
Scn2a T A 2: 65,573,395 (GRCm39) probably null Het
Serpinb10 T A 1: 107,474,779 (GRCm39) C314S probably benign Het
Setbp1 A C 18: 79,130,164 (GRCm39) S23A probably benign Het
Sh3pxd2b A G 11: 32,346,479 (GRCm39) D116G possibly damaging Het
Slc4a1 G T 11: 102,252,245 (GRCm39) probably benign Het
Snx19 T C 9: 30,351,491 (GRCm39) L155P probably damaging Het
Sox2 A G 3: 34,705,193 (GRCm39) N210S probably benign Het
Spag6 T C 2: 18,736,958 (GRCm39) probably null Het
Speer4b A T 5: 27,703,036 (GRCm39) L154Q probably null Het
Strn3 T A 12: 51,696,953 (GRCm39) E259D probably benign Het
Tenm1 G A X: 41,626,856 (GRCm39) Q1931* probably null Het
Trp53bp1 C G 2: 121,038,432 (GRCm39) G1469R probably damaging Het
Ttc8 C A 12: 98,948,789 (GRCm39) Q492K probably benign Het
Ttn T C 2: 76,798,747 (GRCm39) H509R probably benign Het
Utrn T A 10: 12,564,050 (GRCm39) H1270L probably benign Het
Vopp1 G A 6: 57,731,533 (GRCm39) P153S probably damaging Het
Wdfy4 T A 14: 32,809,912 (GRCm39) I1770F possibly damaging Het
Zfp14 G T 7: 29,738,341 (GRCm39) Q215K probably damaging Het
Zfp473 A T 7: 44,382,376 (GRCm39) Y651* probably null Het
Zfp735 G T 11: 73,580,550 (GRCm39) E16D possibly damaging 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
R0625:Phc2 UTSW 4 128,617,503 (GRCm39) missense possibly damaging 0.80
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
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'- GTTGTCCATCTTCAAGTTGGCC -3'
(R):5'- TGATCACCAAGTCATTTCAGACC -3'

Sequencing Primer
(F):5'- AAGTTGGCCTCTGTTCTGATTAAC -3'
(R):5'- GGAAAAGAAGTAGTCCGTAC -3'
Posted On 2015-09-24