Mutagenetix > Incidental Mutation

Incidental Mutation 'R6925:Phc2'

541067

Institutional Source

Beutler Lab

Gene Symbol

Phc2

Ensembl Gene

ENSMUSG00000028796

Gene Name

polyhomeotic 2

Synonyms

D4Ertd810e, Mph2, Edr2, D130050K19Rik

MMRRC Submission

045043-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6925 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128548495-128646674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128641927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 750 (S750T)

Ref Sequence

ENSEMBL: ENSMUSP00000101690 (fasta)

Gene Model

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

AlphaFold

Q9QWH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030588
AA Change: S750T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796
AA Change: S750T

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: S223T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101689
Gene: ENSMUSG00000028796
AA Change: S223T

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: S750T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796
AA Change: S750T

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

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

0.0720

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (91/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	T	9: 53,503,329 (GRCm39)	V170E	probably benign	Het
Atp2b2	T	A	6: 113,737,681 (GRCm39)	I902F	probably damaging	Het
Cacna1d	A	G	14: 29,773,594 (GRCm39)	V1697A	probably benign	Het
Ccdc14	T	A	16: 34,511,119 (GRCm39)	F31Y	probably benign	Het
Ccdc17	T	A	4: 116,455,407 (GRCm39)	V250E	probably damaging	Het
Cct7	A	G	6: 85,436,164 (GRCm39)	N25S	probably damaging	Het
Cdcp3	A	G	7: 130,824,436 (GRCm39)	Q177R	possibly damaging	Het
Cep19	G	C	16: 31,922,760 (GRCm39)	G9R	probably damaging	Het
Ces5a	A	T	8: 94,249,685 (GRCm39)		probably null	Het
Chd1l	T	G	3: 97,490,142 (GRCm39)	E471A	probably damaging	Het
Chd6	A	G	2: 160,855,047 (GRCm39)	I787T	probably damaging	Het
Cntnap5c	A	C	17: 58,702,261 (GRCm39)	T1194P	probably benign	Het
Col6a3	T	A	1: 90,743,724 (GRCm39)	M208L	probably benign	Het
Coro7	A	T	16: 4,446,538 (GRCm39)		probably null	Het
Csrnp2	T	C	15: 100,379,839 (GRCm39)	K484R	probably benign	Het
Cyp2c39	T	A	19: 39,501,639 (GRCm39)	V64E	probably damaging	Het
Ddr2	T	C	1: 169,825,701 (GRCm39)	K300E	probably benign	Het
Ddx56	T	C	11: 6,213,980 (GRCm39)	E393G	probably damaging	Het
Diaph1	A	C	18: 37,986,732 (GRCm39)	Y1084*	probably null	Het
Disp1	A	T	1: 182,868,042 (GRCm39)	F1459L	probably benign	Het
Dnajc8	G	A	4: 132,271,424 (GRCm39)	A80T	probably damaging	Het
Elfn1	T	A	5: 139,957,440 (GRCm39)	M148K	probably benign	Het
Emcn	T	A	3: 137,124,763 (GRCm39)	I154N	probably damaging	Het
Enah	T	A	1: 181,733,464 (GRCm39)		probably null	Het
Enah	C	G	1: 181,733,463 (GRCm39)		probably null	Het
Ep300	C	A	15: 81,534,182 (GRCm39)	Q2080K	probably benign	Het
Epha2	T	A	4: 141,036,068 (GRCm39)	M168K	probably benign	Het
Ercc6	T	A	14: 32,284,565 (GRCm39)	I776N	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat4	G	T	3: 39,050,353 (GRCm39)		probably null	Het
G3bp1	A	G	11: 55,388,786 (GRCm39)	R333G	possibly damaging	Het
Gm3604	A	G	13: 62,517,204 (GRCm39)	F385L	probably benign	Het
Gm5800	T	C	14: 51,951,157 (GRCm39)	I147M	possibly damaging	Het
Hipk1	A	G	3: 103,685,561 (GRCm39)	F18S	unknown	Het
Ighv3-8	A	T	12: 114,285,950 (GRCm39)	C131S	probably benign	Het
Il23r	T	G	6: 67,400,477 (GRCm39)	T618P	probably damaging	Het
Il31ra	G	A	13: 112,664,063 (GRCm39)	T538I	possibly damaging	Het
Kcns2	A	G	15: 34,840,059 (GRCm39)	D474G	unknown	Het
Klc4	T	C	17: 46,947,155 (GRCm39)	T407A	possibly damaging	Het
Klra5	C	T	6: 129,888,420 (GRCm39)	S2N	probably benign	Het
Krt10	T	C	11: 99,279,677 (GRCm39)	Y161C	probably damaging	Het
Kxd1	A	T	8: 70,975,928 (GRCm39)	M1K	probably null	Het
Lgals1	A	C	15: 78,812,240 (GRCm39)	D27A	possibly damaging	Het
Lgr5	T	C	10: 115,302,251 (GRCm39)	S308G	probably benign	Het
Lrp1	G	A	10: 127,392,857 (GRCm39)	S2736L	probably benign	Het
Lrpap1	G	T	5: 35,259,880 (GRCm39)	H73N	probably benign	Het
Mcpt1	C	A	14: 56,256,522 (GRCm39)	T86K	probably damaging	Het
Megf6	A	T	4: 154,339,044 (GRCm39)	D527V	probably damaging	Het
Mical3	A	T	6: 120,936,351 (GRCm39)	S1392T	probably benign	Het
Mmp2	A	T	8: 93,566,010 (GRCm39)	D437V	probably damaging	Het
Mob4	T	A	1: 55,191,881 (GRCm39)	Y166*	probably null	Het
Mrap2	G	A	9: 87,064,527 (GRCm39)	M89I	possibly damaging	Het
Mug1	G	A	6: 121,858,746 (GRCm39)	A1155T	probably damaging	Het
Myh2	G	T	11: 67,084,044 (GRCm39)	A1556S	probably benign	Het
Nfatc3	A	G	8: 106,845,954 (GRCm39)	D1028G	probably benign	Het
Ngef	T	G	1: 87,430,985 (GRCm39)		probably null	Het
Nlrp1a	A	T	11: 70,983,339 (GRCm39)	L1209Q	probably null	Het
Npr2	C	T	4: 43,647,553 (GRCm39)	R819C	probably damaging	Het
Nsd2	A	T	5: 34,036,454 (GRCm39)	D646V	probably damaging	Het
Nsun7	A	G	5: 66,434,415 (GRCm39)	H252R	probably damaging	Het
Or2a25	T	A	6: 42,888,791 (GRCm39)	C111*	probably null	Het
Or2k2	A	T	4: 58,785,647 (GRCm39)	I25N	possibly damaging	Het
Or51a10	C	T	7: 103,698,947 (GRCm39)	V205I	probably benign	Het
Or8g32	A	T	9: 39,305,156 (GRCm39)	Q20L	probably benign	Het
Or8g32	G	T	9: 39,305,157 (GRCm39)	Q20H	probably benign	Het
Pcdhga2	A	T	18: 37,803,638 (GRCm39)	D494V	probably damaging	Het
Pcsk2	A	G	2: 143,655,667 (GRCm39)	E617G	probably damaging	Het
Pdc	T	C	1: 150,208,931 (GRCm39)	I138T	probably damaging	Het
Pkd2l1	T	A	19: 44,179,947 (GRCm39)	N88Y	possibly damaging	Het
Plcl1	C	T	1: 55,445,757 (GRCm39)	R71*	probably null	Het
Prag1	C	A	8: 36,571,048 (GRCm39)	L544M	probably damaging	Het
Prkg2	A	G	5: 99,114,369 (GRCm39)		probably null	Het
Psd2	G	A	18: 36,112,764 (GRCm39)	S153N	probably damaging	Het
Rab11fip1	A	T	8: 27,643,000 (GRCm39)	S600T	probably damaging	Het
Rbms1	T	G	2: 60,592,648 (GRCm39)	T222P	probably benign	Het
Slfn8	A	T	11: 82,904,243 (GRCm39)	Y382*	probably null	Het
Socs4	T	A	14: 47,527,195 (GRCm39)	C43*	probably null	Het
Sorl1	T	A	9: 41,944,922 (GRCm39)	T868S	probably damaging	Het
St6gal1	A	G	16: 23,174,963 (GRCm39)	Y267C	probably damaging	Het
Syne1	A	G	10: 5,076,682 (GRCm39)	V6879A	probably benign	Het
Syne2	C	A	12: 75,900,906 (GRCm39)	H22N	possibly damaging	Het
Tmeff2	T	A	1: 50,967,180 (GRCm39)	L25Q	probably damaging	Het
Tmprss11g	G	T	5: 86,635,285 (GRCm39)	D396E	probably benign	Het
Tmprss11g	T	A	5: 86,635,295 (GRCm39)	H393L	probably benign	Het
Vmn2r23	A	G	6: 123,681,512 (GRCm39)	E140G	probably damaging	Het
Wapl	T	C	14: 34,399,320 (GRCm39)	S130P	probably benign	Het
Zeb2	T	A	2: 44,884,541 (GRCm39)	K982M	probably damaging	Het
Zfhx3	C	G	8: 109,683,453 (GRCm39)	H3631D	unknown	Het
Zfp719	T	C	7: 43,240,130 (GRCm39)	S573P	probably damaging	Het
Zfp979	A	T	4: 147,697,999 (GRCm39)	C237S	possibly damaging	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
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
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'- TGCCCCTCCAGAAAGAGTGAAG -3'
(R):5'- AGACTTTCCAAGGAGCTTACC -3'

Sequencing Primer
(F):5'- AGCTGGGCCTGTCTCTG -3'
(R):5'- TTTCCAAGGAGCTTACCTGGCAG -3'

Posted On

2018-11-28