Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00727:Phc2'

12988

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00727

Quality Score

Status

Chromosome

Chromosomal Location

128548495-128646674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 128639637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 640 (V640G)

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: V640G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796
AA Change: V640G

Domain	Start	End	E-Value	Type
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: V113G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101689
Gene: ENSMUSG00000028796
AA Change: V113G

Domain	Start	End	E-Value	Type
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: V640G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796
AA Change: V640G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134421
AA Change: V113G

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123307
Gene: ENSMUSG00000028796
AA Change: V113G

Domain	Start	End	E-Value	Type
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: V113G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118298
Gene: ENSMUSG00000028796
AA Change: V113G

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PDB:2L8E\|A	105	135	8e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000143632

Coding Region Coverage

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,672,803 (GRCm39)	Y1470F	probably damaging	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Dennd5b	G	T	6: 148,908,214 (GRCm39)		probably benign	Het
Fmnl3	G	A	15: 99,220,551 (GRCm39)	T577I	probably damaging	Het
Klra17	A	G	6: 129,808,472 (GRCm39)	Y254H	probably benign	Het
Kprp	A	T	3: 92,731,734 (GRCm39)	S439T	unknown	Het
Lrrc40	T	C	3: 157,769,508 (GRCm39)		probably null	Het
Nlrp4c	A	G	7: 6,069,701 (GRCm39)	E534G	possibly damaging	Het
Nsd3	T	C	8: 26,131,174 (GRCm39)	S180P	probably damaging	Het
Ppp1r12a	G	A	10: 108,066,334 (GRCm39)	R175Q	probably damaging	Het
Prkd1	C	T	12: 50,411,444 (GRCm39)	R768H	probably damaging	Het

Other mutations in Phc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06