Mutagenetix > Incidental Mutations

Incidental Mutation 'R4948:Phc2'

383566

Institutional Source

Beutler Lab

Gene Symbol

Phc2

Ensembl Gene

ENSMUSG00000028796

Gene Name

polyhomeotic 2

Synonyms

Edr2, D4Ertd810e, Mph2, D130050K19Rik

MMRRC Submission

042545-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4948 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128654702-128752881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128723115 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 394 (A394T)

Ref Sequence

ENSEMBL: ENSMUSP00000101690 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030588
AA Change: A394T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796
AA Change: A394T

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
AA Change: A394T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796
AA Change: A394T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155653

Meta Mutation Damage Score

0.0728

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.2%

Validation Efficiency

94% (103/109)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,290		probably null	Het
Adcy4	C	T	14: 55,779,029	D322N	probably damaging	Het
Alas1	A	T	9: 106,246,878	L27*	probably null	Het
Aldh1a7	A	G	19: 20,727,010	V40A	possibly damaging	Het
Appbp2	A	T	11: 85,194,583	I499K	possibly damaging	Het
B3gnt5	A	C	16: 19,769,144	M38L	probably benign	Het
Brd8	A	G	18: 34,614,532	V92A	probably damaging	Het
Btla	A	T	16: 45,242,728	E151D	probably benign	Het
C87499	A	T	4: 88,628,948	L162H	probably damaging	Het
Cd79b	T	A	11: 106,312,861	T67S	probably benign	Het
Cep192	A	G	18: 67,816,804	R320G	probably benign	Het
Chad	A	C	11: 94,565,702	D202A	probably damaging	Het
Chil6	A	G	3: 106,388,672		probably benign	Het
Cpz	T	C	5: 35,517,404	E167G	possibly damaging	Het
Crisp2	T	G	17: 40,765,268	H225P	probably damaging	Het
Cyp2c23	T	C	19: 44,021,699	Y69C	possibly damaging	Het
Dcp1a	T	A	14: 30,479,767	L49H	probably damaging	Het
Dnah6	T	A	6: 73,053,689	H3380L	probably benign	Het
Dnm2	A	G	9: 21,504,533	D721G	possibly damaging	Het
Dnpep	G	T	1: 75,316,760	T15K	probably benign	Het
Dock3	A	T	9: 106,991,155	D643E	probably damaging	Het
Ear6	C	T	14: 51,854,116	T40I	possibly damaging	Het
Fancm	A	G	12: 65,090,974	D313G	probably damaging	Het
Fbxw16	T	A	9: 109,438,347	E272V	probably damaging	Het
Frmd4b	T	A	6: 97,306,730	E393D	probably benign	Het
Fryl	T	A	5: 73,089,130	M1100L	probably benign	Het
Gjc1	T	C	11: 102,800,421	H252R	probably damaging	Het
Gm10518	T	C	1: 179,803,912		probably benign	Het
Gna14	A	G	19: 16,603,292	M165V	probably benign	Het
Hells	C	A	19: 38,935,522	Q72K	probably damaging	Het
Herc1	A	G	9: 66,484,902	I4031V	probably benign	Het
Hspa2	C	T	12: 76,405,987	A485V	probably damaging	Het
Ighv1-54	T	A	12: 115,193,818	I70F	probably benign	Het
Il20rb	A	T	9: 100,461,539		probably benign	Het
Krt1	C	A	15: 101,845,941	V625L	unknown	Het
Lamc3	T	C	2: 31,940,736	I1495T	probably benign	Het
Larp6	A	G	9: 60,737,780	E401G	possibly damaging	Het
Ldha	A	T	7: 46,847,381	H19L	probably benign	Het
Lrba	A	G	3: 86,285,028	N83S	probably damaging	Het
Lrp4	G	T	2: 91,485,886	R783L	probably benign	Het
Lrrk2	T	G	15: 91,803,389	I2227S	probably benign	Het
Lvrn	T	C	18: 46,880,736	L495P	probably damaging	Het
Macf1	T	C	4: 123,497,755	N1077S	probably damaging	Het
Mboat1	A	G	13: 30,241,230	T425A	probably damaging	Het
Mcam	A	G	9: 44,136,566	E36G	probably damaging	Het
Meis1	T	A	11: 19,016,308	T22S	probably benign	Het
Micu1	A	G	10: 59,863,254	K451R	possibly damaging	Het
Mrvi1	A	G	7: 110,888,029	V498A	probably damaging	Het
Nat8	A	T	6: 85,830,523	D209E	probably benign	Het
Nek10	T	A	14: 14,860,986	L513M	possibly damaging	Het
Nmral1	G	A	16: 4,716,410	R56*	probably null	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1002	T	C	2: 85,647,572	I250V	probably benign	Het
Olfr1408	A	G	1: 173,130,959	V86A	probably benign	Het
Olfr1451	A	T	19: 12,999,831	T282S	probably benign	Het
Olfr192	G	A	16: 59,098,977	T5I	probably damaging	Het
Palm3	A	T	8: 84,027,079	R132*	probably null	Het
Pax2	A	G	19: 44,816,040	Y272C	probably damaging	Het
Phf2	C	A	13: 48,807,722	G831C	unknown	Het
Pik3c2b	G	A	1: 133,099,715		probably null	Het
Plin2	T	A	4: 86,661,991	I178F	probably benign	Het
Prdm14	T	A	1: 13,122,631	I295F	probably damaging	Het
Psmd5	C	T	2: 34,870,783	R47H	probably benign	Het
Ptchd3	T	A	11: 121,842,516	I744K	probably damaging	Het
Ptrh1	T	A	2: 32,776,545		probably benign	Het
Rab6a	A	G	7: 100,628,420	D49G	probably damaging	Het
Radil	A	T	5: 142,485,239	D1062E	probably benign	Het
Robo2	A	G	16: 74,352,838	V34A	possibly damaging	Het
Sall3	G	A	18: 80,971,411	P1029S	probably benign	Het
Sec14l3	A	G	11: 4,068,101	D127G	possibly damaging	Het
Sel1l2	A	G	2: 140,244,166	Y502H	probably damaging	Het
Serpina1f	A	G	12: 103,689,751	V406A	probably damaging	Het
Sf3b3	T	C	8: 110,813,669	D1040G	probably damaging	Het
Sgcd	A	G	11: 46,979,435	I233T	possibly damaging	Het
Slc15a3	A	G	19: 10,843,046	Q9R	probably benign	Het
Slc25a46	A	G	18: 31,583,283	F389L	probably damaging	Het
Slc26a2	G	T	18: 61,198,258	C700*	probably null	Het
Slc4a7	A	G	14: 14,771,283	Y671C	possibly damaging	Het
Slc5a10	A	T	11: 61,719,882	I22N	probably damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Slc6a12	A	G	6: 121,355,322	D205G	probably benign	Het
Tas2r115	G	A	6: 132,737,161	H276Y	probably damaging	Het
Tdpoz4	T	A	3: 93,797,011	I205N	probably damaging	Het
Tfeb	C	T	17: 47,785,979	T33I	probably benign	Het
Tgm3	A	G	2: 130,048,320	T668A	probably benign	Het
Tnpo3	A	G	6: 29,582,260	V201A	probably benign	Het
Tpcn1	T	A	5: 120,556,531	M158L	probably benign	Het
Trim47	A	C	11: 116,106,092	L612R	probably damaging	Het
Trmt10c	A	T	16: 56,034,075	L399*	probably null	Het
Trpm2	A	T	10: 77,917,792	S1293T	probably benign	Het
Ttn	C	T	2: 76,752,597	V22651I	probably damaging	Het
Tubgcp5	A	G	7: 55,806,123	I300V	probably benign	Het
Uty	T	A	Y: 1,136,883	Q844L	probably damaging	Het
Vmn2r85	C	T	10: 130,419,121	E565K	probably damaging	Het
Vmn2r97	T	C	17: 18,947,299	V605A	possibly damaging	Het
Vwa3a	T	C	7: 120,776,264	V399A	probably damaging	Het
Wdr63	T	A	3: 146,083,065	K254*	probably null	Het
Wnk4	G	A	11: 101,268,281	R508Q	probably damaging	Het
Zfp217	A	G	2: 170,119,210	V399A	probably damaging	Het
Zfp616	T	A	11: 74,084,004	N457K	possibly damaging	Het

Other mutations in Phc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00727:Phc2	APN	4	128745844	missense	probably damaging	1.00
IGL01470:Phc2	APN	4	128723110	missense	probably benign	0.00
IGL02171:Phc2	APN	4	128711065	missense	probably damaging	1.00
IGL02884:Phc2	APN	4	128708016	missense	probably damaging	1.00
I1329:Phc2	UTSW	4	128711113	missense	probably damaging	0.98
PIT4696001:Phc2	UTSW	4	128705202	missense	probably damaging	1.00
R0483:Phc2	UTSW	4	128723307	unclassified	probably benign
R0625:Phc2	UTSW	4	128723710	missense	possibly damaging	0.80
R1392:Phc2	UTSW	4	128745087	missense	possibly damaging	0.63
R1392:Phc2	UTSW	4	128745087	missense	possibly damaging	0.63
R1429:Phc2	UTSW	4	128743555	missense	probably damaging	1.00
R1701:Phc2	UTSW	4	128751607	missense	probably damaging	1.00
R1820:Phc2	UTSW	4	128743543	missense	probably damaging	0.99
R2011:Phc2	UTSW	4	128723585	missense	probably benign	0.27
R2063:Phc2	UTSW	4	128747136	missense	probably damaging	1.00
R2064:Phc2	UTSW	4	128747136	missense	probably damaging	1.00
R2065:Phc2	UTSW	4	128747136	missense	probably damaging	1.00
R2066:Phc2	UTSW	4	128747136	missense	probably damaging	1.00
R2067:Phc2	UTSW	4	128747136	missense	probably damaging	1.00
R2152:Phc2	UTSW	4	128745066	makesense	probably null
R2375:Phc2	UTSW	4	128723025	missense	probably benign
R2430:Phc2	UTSW	4	128707983	missense	probably damaging	1.00
R3910:Phc2	UTSW	4	128743558	critical splice donor site	probably null
R3911:Phc2	UTSW	4	128743558	critical splice donor site	probably null
R3941:Phc2	UTSW	4	128747244	critical splice donor site	probably null
R4108:Phc2	UTSW	4	128707983	missense	probably damaging	1.00
R4585:Phc2	UTSW	4	128743510	missense	probably damaging	1.00
R4731:Phc2	UTSW	4	128707971	missense	probably damaging	1.00
R4801:Phc2	UTSW	4	128751598	missense	probably damaging	1.00
R4802:Phc2	UTSW	4	128751598	missense	probably damaging	1.00
R5498:Phc2	UTSW	4	128708994	missense	probably benign	0.37
R5712:Phc2	UTSW	4	128745095	missense	probably damaging	1.00
R5742:Phc2	UTSW	4	128745868	missense	probably damaging	1.00
R6272:Phc2	UTSW	4	128709647	missense	probably damaging	1.00
R6298:Phc2	UTSW	4	128748189	missense	possibly damaging	0.91
R6348:Phc2	UTSW	4	128705151	missense	probably benign	0.00
R6630:Phc2	UTSW	4	128723630	missense	probably damaging	0.97
R6925:Phc2	UTSW	4	128748134	missense	probably damaging	1.00
R7067:Phc2	UTSW	4	128747141	missense	probably benign	0.02
R7396:Phc2	UTSW	4	128748161	missense	probably benign	0.21
R7585:Phc2	UTSW	4	128711139	missense	probably benign	0.35
R7590:Phc2	UTSW	4	128748027	missense	probably damaging	1.00
R7723:Phc2	UTSW	4	128723089	missense	probably benign	0.33
X0012:Phc2	UTSW	4	128709052	missense	probably damaging	0.99
X0017:Phc2	UTSW	4	128723272	missense	probably damaging	0.99
X0023:Phc2	UTSW	4	128708043	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TTATGCTCACCTGCAGTCACAC -3'
(R):5'- CCTCCTTACCGTAACTGGAGAAG -3'

Sequencing Primer
(F):5'- TGCAGTCACACCAGCTCCTC -3'
(R):5'- TAACTGGAGAAGCGGGCTGC -3'

Posted On

2016-04-27