Incidental Mutation 'R8078:Phc2'
ID 629129
Institutional Source Beutler Lab
Gene Symbol Phc2
Ensembl Gene ENSMUSG00000028796
Gene Name polyhomeotic 2
Synonyms D4Ertd810e, Mph2, Edr2, D130050K19Rik
MMRRC Submission 067512-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8078 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 128548495-128646674 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128604855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 197 (I197N)
Ref Sequence ENSEMBL: ENSMUSP00000101690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030588] [ENSMUST00000106080] [ENSMUST00000136377]
AlphaFold Q9QWH1
Predicted Effect probably damaging
Transcript: ENSMUST00000030588
AA Change: I197N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796
AA Change: I197N

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: ENSMUST00000106080
AA Change: I197N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796
AA Change: I197N

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 damaging
Transcript: ENSMUST00000136377
AA Change: I197N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116333
Gene: ENSMUSG00000028796
AA Change: I197N

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.9%
Validation Efficiency 100% (63/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,251,279 (GRCm39) V2884I probably benign Het
Actl10 T A 2: 154,394,490 (GRCm39) N147K probably benign Het
Agpat2 C A 2: 26,494,113 (GRCm39) C37F possibly damaging Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Ankrd26 T A 6: 118,494,854 (GRCm39) probably null Het
Bcas1 T C 2: 170,260,532 (GRCm39) E49G possibly damaging Het
Birc2 A G 9: 7,858,742 (GRCm39) V331A probably damaging Het
Cadm3 A G 1: 173,168,626 (GRCm39) V314A probably damaging Het
Cep290 T C 10: 100,408,749 (GRCm39) V2407A probably benign Het
Chd5 C A 4: 152,445,448 (GRCm39) N446K possibly damaging Het
Clec9a A G 6: 129,385,996 (GRCm39) S27G probably benign Het
Coro1c G T 5: 114,020,164 (GRCm39) A17E probably damaging Het
Cspg4 T C 9: 56,797,543 (GRCm39) S1336P possibly damaging Het
Ddx55 G A 5: 124,704,451 (GRCm39) V353M probably damaging Het
Farp1 T A 14: 121,513,712 (GRCm39) S836T probably benign Het
Fbll1 G T 11: 35,688,728 (GRCm39) D178E probably benign Het
Flg2 T G 3: 93,107,582 (GRCm39) D22E probably damaging Het
Glis1 T A 4: 107,425,099 (GRCm39) C237S probably damaging Het
Gm5519 T C 19: 33,800,357 (GRCm39) V17A possibly damaging Het
Gucy2c C A 6: 136,674,919 (GRCm39) G1055C probably damaging Het
Hspg2 T C 4: 137,235,333 (GRCm39) Y123H probably damaging Het
Idh1 T A 1: 65,200,225 (GRCm39) I380F probably damaging Het
Il23r A T 6: 67,400,577 (GRCm39) N584K probably damaging Het
Irag1 T C 7: 110,498,942 (GRCm39) E363G probably damaging Het
Lama1 A T 17: 68,098,289 (GRCm39) T1829S Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Luzp2 T A 7: 54,702,510 (GRCm39) Y24* probably null Het
Masp2 A T 4: 148,698,235 (GRCm39) T439S probably benign Het
Meioc G A 11: 102,559,226 (GRCm39) W49* probably null Het
Mtor T G 4: 148,552,744 (GRCm39) I749S probably benign Het
Myo16 T A 8: 10,612,078 (GRCm39) V1241D unknown Het
Ncam2 G T 16: 81,240,136 (GRCm39) R199L possibly damaging Het
Nyap2 A G 1: 81,218,772 (GRCm39) S265G possibly damaging Het
Or4f15 T A 2: 111,813,615 (GRCm39) D268V probably damaging Het
Parp8 A T 13: 117,061,519 (GRCm39) F175I probably damaging Het
Pcnx1 A G 12: 82,022,054 (GRCm39) T823A Het
Plaat3 C T 19: 7,556,526 (GRCm39) T109I probably benign Het
Pot1a T C 6: 25,750,107 (GRCm39) I518M probably benign Het
Prg2 T A 2: 84,812,604 (GRCm39) C105S probably benign Het
Rab39 A G 9: 53,617,255 (GRCm39) L54P possibly damaging Het
Rell1 T A 5: 64,097,064 (GRCm39) probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Slc4a4 T C 5: 89,327,566 (GRCm39) Y668H probably benign Het
Sncg C A 14: 34,096,727 (GRCm39) probably benign Het
Spata31d1b A G 13: 59,863,263 (GRCm39) D137G probably damaging Het
Tas1r1 C T 4: 152,112,803 (GRCm39) G750D probably damaging Het
Tcea3 A T 4: 135,981,825 (GRCm39) D61V probably damaging Het
Tfap2c T A 2: 172,393,392 (GRCm39) H102Q probably damaging Het
Tmem150a T A 6: 72,335,306 (GRCm39) L95H probably damaging Het
Tnfrsf11a A T 1: 105,745,409 (GRCm39) D149V probably damaging Het
Tsc22d2 C A 3: 58,323,453 (GRCm39) A115E probably benign Het
Vmn2r101 T A 17: 19,810,507 (GRCm39) F431Y probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r85 C A 10: 130,265,364 (GRCm39) E40* probably null Het
Zfp606 G A 7: 12,214,942 (GRCm39) A57T possibly damaging Het
Zfp760 T C 17: 21,942,436 (GRCm39) V537A 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
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
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
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'- CCAGATTCTGAGGCAACAGAG -3'
(R):5'- GTAACGAGCGAGTCCATTTTC -3'

Sequencing Primer
(F):5'- GATTCTGAGGCAACAGAGTCCCTC -3'
(R):5'- AACGAGCGAGTCCATTTTCTTATTGC -3'
Posted On 2020-06-30