Mutagenetix > Incidental Mutation

Incidental Mutation 'R0483:Phc2'

42104

Institutional Source

Beutler Lab

Gene Symbol

Phc2

Ensembl Gene

ENSMUSG00000028796

Gene Name

polyhomeotic 2

Synonyms

D4Ertd810e, Mph2, Edr2, D130050K19Rik

MMRRC Submission

038683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0483 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

128548495-128646674 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 128617100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030588] [ENSMUST00000106079] [ENSMUST00000106080] [ENSMUST00000120946] [ENSMUST00000133439] [ENSMUST00000134421] [ENSMUST00000138445] [ENSMUST00000143632] [ENSMUST00000147572]

AlphaFold

Q9QWH1

Predicted Effect

probably benign
Transcript: ENSMUST00000030588

SMART Domains

Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796

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 benign
Transcript: ENSMUST00000106079

SMART Domains

Protein: ENSMUSP00000101689
Gene: ENSMUSG00000028796

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 benign
Transcript: ENSMUST00000106080

SMART Domains

Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796

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

probably benign
Transcript: ENSMUST00000134421

SMART Domains

Protein: ENSMUSP00000123307
Gene: ENSMUSG00000028796

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

noncoding transcript
Transcript: ENSMUST00000155653

Predicted Effect

probably benign
Transcript: ENSMUST00000143632

Predicted Effect

probably benign
Transcript: ENSMUST00000147572

SMART Domains

Protein: ENSMUSP00000118298
Gene: ENSMUSG00000028796

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009L16Rik	G	A	10: 83,595,502 (GRCm39)		probably benign	Het
1700048O20Rik	A	T	9: 121,769,769 (GRCm39)		noncoding transcript	Het
AA986860	A	G	1: 130,671,562 (GRCm39)	R595G	probably damaging	Het
Acrbp	C	A	6: 125,031,759 (GRCm39)	F353L	possibly damaging	Het
Adamts20	T	A	15: 94,251,452 (GRCm39)	Q445L	probably benign	Het
Adgrg5	A	G	8: 95,660,136 (GRCm39)	D26G	possibly damaging	Het
Atad2b	A	T	12: 4,995,035 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,306,631 (GRCm39)	G1439C	probably damaging	Het
Atg2a	G	T	19: 6,306,632 (GRCm39)	G1439V	probably benign	Het
B3galt1	G	A	2: 67,948,932 (GRCm39)	V216I	probably benign	Het
Bmerb1	T	C	16: 13,913,803 (GRCm39)	*113R	probably null	Het
C2cd2	A	G	16: 97,660,788 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,564,025 (GRCm39)	V884M	probably damaging	Het
Cers5	C	A	15: 99,643,795 (GRCm39)	C22F	probably damaging	Het
Ces1d	C	A	8: 93,924,307 (GRCm39)	C14F	probably benign	Het
Cntn3	G	T	6: 102,180,927 (GRCm39)	P756Q	probably damaging	Het
Col4a1	T	C	8: 11,286,423 (GRCm39)		probably benign	Het
Col5a3	A	G	9: 20,693,777 (GRCm39)		probably null	Het
Cox5b	G	A	1: 36,731,636 (GRCm39)		probably null	Het
Cwc27	C	A	13: 104,947,724 (GRCm39)		probably null	Het
Cyp27b1	A	C	10: 126,886,026 (GRCm39)	M260L	probably benign	Het
Ddx19b	A	T	8: 111,735,310 (GRCm39)	N465K	probably benign	Het
Depdc1b	T	C	13: 108,510,382 (GRCm39)	V298A	probably benign	Het
Dnaaf1	A	G	8: 120,317,405 (GRCm39)	I311M	possibly damaging	Het
Dnah17	T	C	11: 117,937,950 (GRCm39)	N3372S	probably benign	Het
Dus4l	G	A	12: 31,691,656 (GRCm39)	T184I	possibly damaging	Het
Dzip3	T	C	16: 48,768,076 (GRCm39)	K453E	possibly damaging	Het
Fhod3	C	T	18: 24,842,673 (GRCm39)	T3M	probably damaging	Het
Galnt10	T	C	11: 57,672,048 (GRCm39)	L446P	probably damaging	Het
Gfod1	T	A	13: 43,354,012 (GRCm39)	D321V	possibly damaging	Het
Glt8d2	C	A	10: 82,497,987 (GRCm39)		probably benign	Het
Gm11115	A	G	5: 88,301,948 (GRCm39)	M4T	unknown	Het
Gm11568	G	A	11: 99,749,209 (GRCm39)	C138Y	unknown	Het
Gm57859	C	T	11: 113,580,021 (GRCm39)	T472I	possibly damaging	Het
Gm9742	A	G	13: 8,085,052 (GRCm39)		noncoding transcript	Het
Gnrhr	G	T	5: 86,345,434 (GRCm39)	T84N	probably damaging	Het
Gpr176	C	A	2: 118,110,204 (GRCm39)	G352W	probably damaging	Het
Habp2	T	C	19: 56,304,864 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Inpp5j	C	G	11: 3,449,738 (GRCm39)	W681C	probably damaging	Het
Insl6	A	G	19: 29,298,968 (GRCm39)	M148T	probably benign	Het
Itgb1	T	G	8: 129,452,648 (GRCm39)	M771R	possibly damaging	Het
Kank1	G	T	19: 25,403,357 (GRCm39)		probably benign	Het
Kcnd3	T	C	3: 105,366,942 (GRCm39)	Y271H	probably damaging	Het
Kcnq4	C	A	4: 120,573,798 (GRCm39)	R221L	probably damaging	Het
Klk1b26	G	A	7: 43,665,772 (GRCm39)	V195I	probably benign	Het
Lactb	A	C	9: 66,878,145 (GRCm39)	V228G	possibly damaging	Het
Ldb3	T	C	14: 34,258,541 (GRCm39)	D649G	probably damaging	Het
Lilra6	T	A	7: 3,916,138 (GRCm39)	R240S	probably benign	Het
Lrp2	A	G	2: 69,338,145 (GRCm39)	Y1212H	probably damaging	Het
Mapk8ip1	A	T	2: 92,216,321 (GRCm39)		probably null	Het
Mctp1	C	T	13: 76,975,846 (GRCm39)	L483F	probably damaging	Het
Mmp16	T	C	4: 18,115,878 (GRCm39)		probably benign	Het
Mphosph9	A	T	5: 124,445,033 (GRCm39)	L360*	probably null	Het
Myh4	A	G	11: 67,143,123 (GRCm39)	E1017G	probably damaging	Het
Nell1	A	T	7: 49,879,928 (GRCm39)	M307L	probably benign	Het
Or10al3	C	T	17: 38,012,188 (GRCm39)	A209V	probably benign	Het
Or10d1	A	C	9: 39,484,139 (GRCm39)	C139G	probably damaging	Het
Or5m11	A	G	2: 85,781,587 (GRCm39)	Y60C	probably damaging	Het
Or8k35	A	G	2: 86,424,752 (GRCm39)	V140A	probably benign	Het
Pp2d1	C	A	17: 53,814,999 (GRCm39)	C575F	probably benign	Het
Ptpra	T	A	2: 130,381,605 (GRCm39)	N364K	probably damaging	Het
R3hcc1l	A	G	19: 42,550,995 (GRCm39)		probably benign	Het
Rims1	A	G	1: 22,507,263 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,427,442 (GRCm39)		probably benign	Het
Sit1	T	A	4: 43,482,991 (GRCm39)	Q86L	possibly damaging	Het
Skint4	C	A	4: 111,975,136 (GRCm39)		probably benign	Het
Skint8	G	T	4: 111,796,020 (GRCm39)		probably benign	Het
Smim13	T	C	13: 41,426,186 (GRCm39)	I74T	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Spmap2l	A	G	5: 77,185,204 (GRCm39)		probably benign	Het
Srpra	A	G	9: 35,127,291 (GRCm39)	T614A	possibly damaging	Het
Synpo2	T	C	3: 122,907,981 (GRCm39)	D445G	probably damaging	Het
Tas2r102	A	T	6: 132,739,328 (GRCm39)	I79F	probably damaging	Het
Tmc4	A	G	7: 3,670,609 (GRCm39)	L494P	probably damaging	Het
Togaram1	G	T	12: 65,053,805 (GRCm39)	V1412F	probably damaging	Het
Topors	T	C	4: 40,261,952 (GRCm39)	D444G	probably damaging	Het
Trappc8	T	A	18: 20,978,658 (GRCm39)	I813F	possibly damaging	Het
Trim26	T	C	17: 37,163,598 (GRCm39)		probably benign	Het
Unc13a	T	C	8: 72,097,557 (GRCm39)	D1171G	probably damaging	Het
Usp7	A	G	16: 8,517,126 (GRCm39)	V245A	probably damaging	Het
Vmn1r38	T	A	6: 66,753,979 (GRCm39)	T46S	probably benign	Het
Vmn2r76	T	C	7: 85,874,959 (GRCm39)	T673A	probably damaging	Het
Zcchc14	T	A	8: 122,355,388 (GRCm39)		probably benign	Het
Zfp451	T	A	1: 33,809,991 (GRCm39)		probably benign	Het

Other mutations in Phc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- AGTTTGTGGCCCAACAGCAACC -3'
(R):5'- CTCGGGCAAAGATGCAAAGATTCAG -3'

Sequencing Primer
(F):5'- CTCTAGGCTCAGTGACACAG -3'
(R):5'- GTCATCTCTAAGTCTGGGAGCAC -3'

Posted On

2013-05-23