Incidental Mutation 'R2430:Phc2'
ID 250371
Institutional Source Beutler Lab
Gene Symbol Phc2
Ensembl Gene ENSMUSG00000028796
Gene Name polyhomeotic 2
Synonyms D4Ertd810e, Mph2, Edr2, D130050K19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2430 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 128548495-128646674 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128601776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 77 (Y77F)
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: Y77F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796
AA Change: Y77F

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: Y77F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796
AA Change: Y77F

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: Y77F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116333
Gene: ENSMUSG00000028796
AA Change: Y77F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155653
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arc T C 15: 74,543,740 (GRCm39) E161G probably benign Het
Ass1 A G 2: 31,391,508 (GRCm39) H261R probably damaging Het
Car11 T A 7: 45,353,072 (GRCm39) probably null Het
Crebbp T C 16: 3,914,329 (GRCm39) H844R probably damaging Het
Dnai2 A G 11: 114,648,012 (GRCm39) probably benign Het
Eya2 T C 2: 165,558,050 (GRCm39) probably null Het
Klhl40 A G 9: 121,609,667 (GRCm39) D484G possibly damaging Het
Knstrn A G 2: 118,664,584 (GRCm39) probably benign Het
Nckap5 A G 1: 125,842,494 (GRCm39) S1838P probably damaging Het
Nipsnap2 A G 5: 129,821,855 (GRCm39) D117G possibly damaging Het
Nudt15 C T 14: 73,762,742 (GRCm39) probably benign Het
Or5w16 T A 2: 87,576,999 (GRCm39) M153K possibly damaging Het
Or8k35 A G 2: 86,425,052 (GRCm39) I40T probably benign Het
Pcdh20 T C 14: 88,704,984 (GRCm39) D772G probably damaging Het
Pdss1 T A 2: 22,819,605 (GRCm39) Y289* probably null Het
Ppip5k2 A T 1: 97,662,755 (GRCm39) Y667N probably damaging Het
Prdm2 A G 4: 142,859,733 (GRCm39) S1186P possibly damaging Het
Prr36 A T 8: 4,263,488 (GRCm39) probably benign Het
Reck C T 4: 43,930,202 (GRCm39) T592I possibly damaging Het
Rprd2 T A 3: 95,672,107 (GRCm39) K1015* probably null Het
Tfrc T G 16: 32,445,529 (GRCm39) Y617D probably damaging Het
Tnfsf11 A C 14: 78,521,752 (GRCm39) D152E probably benign Het
Vmn2r54 T A 7: 12,365,933 (GRCm39) I334F probably 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
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'- TGACGACAGGCATCTGACAG -3'
(R):5'- GACACTAATACCTGATTCTGGGG -3'

Sequencing Primer
(F):5'- TCTGACAGATGAAGATAGGCAGGC -3'
(R):5'- CTGAGCGATAAGACTTGTTTCC -3'
Posted On 2014-11-12