Incidental Mutation 'R9058:Phc2'
ID 688802
Institutional Source Beutler Lab
Gene Symbol Phc2
Ensembl Gene ENSMUSG00000028796
Gene Name polyhomeotic 2
Synonyms D4Ertd810e, Mph2, Edr2, D130050K19Rik
MMRRC Submission 068884-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 128548495-128646674 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128616769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 347 (F347L)
Ref Sequence ENSEMBL: ENSMUSP00000101690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030588] [ENSMUST00000106079] [ENSMUST00000106080] [ENSMUST00000120946] [ENSMUST00000133439] [ENSMUST00000138445] [ENSMUST00000143632] [ENSMUST00000147572]
AlphaFold Q9QWH1
Predicted Effect probably benign
Transcript: ENSMUST00000030588
AA Change: F347L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796
AA Change: F347L

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 probably benign
Transcript: ENSMUST00000106080
AA Change: F347L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796
AA Change: F347L

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: ENSMUST00000138445
Predicted Effect probably benign
Transcript: ENSMUST00000143632
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 T C 11: 116,080,268 (GRCm39) T135A possibly damaging Het
Adrm1b A T 3: 92,335,559 (GRCm39) M283K probably benign Het
Aldh8a1 T C 10: 21,258,344 (GRCm39) I147T possibly damaging Het
Alkbh5 T C 11: 60,444,548 (GRCm39) L288S probably benign Het
Bpifb5 A G 2: 154,080,817 (GRCm39) D478G possibly damaging Het
Cacna1s A T 1: 135,998,436 (GRCm39) K155* probably null Het
Ccser1 T C 6: 61,350,976 (GRCm39) L511P probably damaging Het
Cebpz A T 17: 79,243,227 (GRCm39) N142K probably benign Het
Cfap299 A T 5: 98,932,400 (GRCm39) D200V probably damaging Het
Clip1 G T 5: 123,752,645 (GRCm39) R379S Het
Cpne8 T A 15: 90,381,276 (GRCm39) I513F probably damaging Het
Ctnnb1 T A 9: 120,780,476 (GRCm39) C213* probably null Het
Dnah7b A G 1: 46,282,575 (GRCm39) K2903E probably damaging Het
Dnah7c G T 1: 46,805,816 (GRCm39) G3422W probably damaging Het
Dnhd1 T A 7: 105,333,270 (GRCm39) H247Q probably benign Het
Efna2 A G 10: 80,022,720 (GRCm39) Y88C probably damaging Het
Eppk1 C T 15: 75,992,265 (GRCm39) G1539R probably benign Het
Exoc3l2 A T 7: 19,203,821 (GRCm39) K138* probably null Het
Fam47e A G 5: 92,719,367 (GRCm39) probably benign Het
Frmpd1 T A 4: 45,283,948 (GRCm39) M923K probably damaging Het
Gbe1 A G 16: 70,324,059 (GRCm39) E558G possibly damaging Het
Gm5431 T C 11: 48,786,049 (GRCm39) T109A probably benign Het
Gm9508 G A 10: 77,532,620 (GRCm39) P150S unknown Het
Grep1 T C 17: 23,935,016 (GRCm39) N63S probably benign Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hrob T C 11: 102,146,386 (GRCm39) S221P probably benign Het
Hsfy2 A T 1: 56,676,504 (GRCm39) V11D probably benign Het
Kif13a T C 13: 46,944,941 (GRCm39) N887D probably damaging Het
Kirrel1 A G 3: 86,992,442 (GRCm39) V541A probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lamc3 G A 2: 31,798,653 (GRCm39) R453H probably benign Het
Mideas A G 12: 84,220,642 (GRCm39) M104T probably damaging Het
Muc6 G C 7: 141,218,154 (GRCm39) T2173S possibly damaging Het
Neb T C 2: 52,075,341 (GRCm39) N208S probably benign Het
Nlrc5 A T 8: 95,238,938 (GRCm39) T1459S possibly damaging Het
Npy1r T C 8: 67,156,600 (GRCm39) S7P probably benign Het
Nr4a2 T C 2: 57,002,255 (GRCm39) N66S probably benign Het
Nr5a1 T C 2: 38,584,034 (GRCm39) T462A probably damaging Het
Ntng2 A G 2: 29,094,202 (GRCm39) C390R probably benign Het
Or4p23 A C 2: 88,577,030 (GRCm39) D67E Het
Or5b119 G A 19: 13,456,956 (GRCm39) T202I possibly damaging Het
Or7g12 T A 9: 18,900,222 (GRCm39) *313R probably null Het
Pecam1 G T 11: 106,590,675 (GRCm39) P33Q probably damaging Het
Phldb2 T A 16: 45,592,604 (GRCm39) H938L possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Prkch G T 12: 73,822,308 (GRCm39) probably null Het
Prr5 A G 15: 84,641,241 (GRCm39) N169S probably benign Het
Puf60 C T 15: 75,942,425 (GRCm39) D483N probably benign Het
Puf60 C T 15: 75,944,382 (GRCm39) M133I probably benign Het
Rmnd1 T C 10: 4,363,398 (GRCm39) H284R probably benign Het
Scaper T C 9: 55,722,762 (GRCm39) E682G probably damaging Het
Sds A G 5: 120,618,779 (GRCm39) E111G possibly damaging Het
Sec23b T A 2: 144,424,010 (GRCm39) I553N probably damaging Het
Serpina1a A T 12: 103,820,001 (GRCm39) I415K possibly damaging Het
Slc14a1 T A 18: 78,145,785 (GRCm39) probably null Het
Socs1 G A 16: 10,602,692 (GRCm39) P15L probably benign Het
Sv2b A T 7: 74,789,822 (GRCm39) probably null Het
Sync T C 4: 129,187,217 (GRCm39) I83T probably damaging Het
Syt16 T A 12: 74,282,019 (GRCm39) L381Q probably damaging Het
Tbx20 T C 9: 24,681,019 (GRCm39) R158G probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmem19 C A 10: 115,198,031 (GRCm39) probably benign Het
Trpa1 A C 1: 14,959,618 (GRCm39) N689K probably damaging Het
Ube3b C A 5: 114,553,300 (GRCm39) H891N probably benign Het
Vmn2r19 T A 6: 123,313,021 (GRCm39) M697K possibly damaging Het
Zfp142 A T 1: 74,608,955 (GRCm39) C1613* probably null Het
Zfp7 T A 15: 76,764,981 (GRCm39) M1K probably null Het
Zfp936 A T 7: 42,839,196 (GRCm39) Q221L 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
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
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'- ACACAAGAGAAGCTTCCGAG -3'
(R):5'- ACATGCGTGGTAGAGCACTG -3'

Sequencing Primer
(F):5'- TGGACAGACCAATCTCCATGTG -3'
(R):5'- CGTGGTAGAGCACTGGAGAG -3'
Posted On 2021-11-19