Mutagenetix > Incidental Mutation

Incidental Mutation 'R4801:Phc2'

472854

Institutional Source

Beutler Lab

Gene Symbol

Phc2

Ensembl Gene

ENSMUSG00000028796

Gene Name

polyhomeotic 2

Synonyms

Edr2, D4Ertd810e, Mph2, D130050K19Rik

MMRRC Submission

042423-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128654702-128752881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128751598 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 833 (K833E)

Ref Sequence

ENSEMBL: ENSMUSP00000101690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030588] [ENSMUST00000106077] [ENSMUST00000106079] [ENSMUST00000106080] [ENSMUST00000134421] [ENSMUST00000138445] [ENSMUST00000143632] [ENSMUST00000147572]

AlphaFold

Q9QWH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030588
AA Change: K833E

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

SMART Domains

Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796
AA Change: K833E

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: ENSMUST00000106077

SMART Domains

Protein: ENSMUSP00000101687
Gene: ENSMUSG00000028794

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Glyco_transf_6	49	339	1.4e-114	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106079
AA Change: K306E

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

SMART Domains

Protein: ENSMUSP00000101689
Gene: ENSMUSG00000028796
AA Change: K306E

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: K833E

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

SMART Domains

Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796
AA Change: K833E

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: 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

0.9355

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (88/89)

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: 164 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,983,926		probably null	Het
Aadacl3	A	G	4: 144,456,232	I222T	probably damaging	Het
Abca13	G	T	11: 9,522,341	G4249V	possibly damaging	Het
Abcb10	A	G	8: 123,966,527	V346A	probably benign	Het
Abcc2	A	T	19: 43,819,361	I814F	probably damaging	Het
AF366264	T	A	8: 13,836,970	I374F	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankrd28	A	C	14: 31,736,830	D335E	probably damaging	Het
Ankrd44	T	C	1: 54,762,316	H284R	probably damaging	Het
Arfgef3	G	T	10: 18,591,906	Q1849K	probably benign	Het
Atp2c2	T	C	8: 119,747,687	M490T	probably damaging	Het
Bach1	T	A	16: 87,722,452	D543E	probably damaging	Het
Bahcc1	G	A	11: 120,282,225	V1558I	probably benign	Het
Bbs5	T	A	2: 69,655,614	W168R	probably damaging	Het
Bcar3	A	T	3: 122,529,594	D766V	probably benign	Het
C1ra	A	G	6: 124,513,768	D40G	probably benign	Het
Ccdc138	G	A	10: 58,573,643	C598Y	probably damaging	Het
Cd200r3	T	A	16: 44,957,825	N197K	possibly damaging	Het
Cenpf	T	A	1: 189,651,220	E2634D	probably damaging	Het
Cisd2	T	C	3: 135,411,141	K63R	probably damaging	Het
Clca3a2	A	T	3: 144,807,351	S478T	possibly damaging	Het
Clptm1l	T	C	13: 73,607,862	M199T	possibly damaging	Het
Cntnap4	T	A	8: 112,773,590	S505T	possibly damaging	Het
Cr2	C	T	1: 195,163,311	G112D	probably damaging	Het
Crb2	T	A	2: 37,793,756	I1090N	probably benign	Het
Csmd3	G	T	15: 47,621,292	P3057Q	probably damaging	Het
Ctso	G	A	3: 81,954,240	V307I	probably damaging	Het
Cyp3a41b	T	A	5: 145,573,651	T138S	probably benign	Het
Dctn3	G	T	4: 41,719,904	Y67*	probably null	Het
Dennd4c	C	A	4: 86,819,884	Y918*	probably null	Het
Dlg5	C	T	14: 24,154,689	G1262D	probably damaging	Het
Dnaaf1	G	A	8: 119,577,361	G46D	probably benign	Het
Dnah6	A	G	6: 73,089,698	V2563A	probably damaging	Het
Dnajc13	A	G	9: 104,175,727	Y1679H	probably benign	Het
Eif2ak3	T	C	6: 70,887,893	Y578H	probably benign	Het
Endod1	C	T	9: 14,357,023	V389M	probably benign	Het
Ephb4	T	C	5: 137,365,506	L582P	probably damaging	Het
Eps15	T	C	4: 109,324,217	L316S	possibly damaging	Het
Erbb4	G	T	1: 68,330,246	T412K	probably damaging	Het
Fam117a	T	A	11: 95,364,070	F90I	probably damaging	Het
Fam187b	T	G	7: 30,977,090	V8G	possibly damaging	Het
Fam84b	C	A	15: 60,823,944		probably benign	Het
Far1	T	A	7: 113,539,453	I59N	possibly damaging	Het
Fbxo34	T	A	14: 47,530,869	L562Q	probably damaging	Het
Frem1	T	A	4: 82,916,628		probably benign	Het
Gfra3	G	T	18: 34,720,192	P10Q	probably damaging	Het
Gm10698	A	G	9: 33,728,772		noncoding transcript	Het
Gm11487	C	T	4: 73,401,267	W80*	probably null	Het
Gm19965	T	A	1: 116,821,896	Y436N	probably benign	Het
Gm21818	T	A	13: 120,173,222	S13R	probably benign	Het
Gm5767	A	G	16: 8,683,345	T22A	unknown	Het
Gm5799	A	T	14: 43,544,548	H59L	probably damaging	Het
Gmppb	T	A	9: 108,050,217	V121E	probably benign	Het
Ighv7-4	G	C	12: 114,223,279		probably benign	Het
Ipo4	A	G	14: 55,631,214	S446P	probably damaging	Het
Itpr2	T	C	6: 146,371,331	T855A	probably damaging	Het
Jaml	T	C	9: 45,101,064	I283T	possibly damaging	Het
Kcnn2	T	C	18: 45,685,267		probably benign	Het
Klhl32	T	C	4: 24,649,698	Y399C	possibly damaging	Het
Lrriq1	G	A	10: 103,221,318	T207I	probably benign	Het
Lrriq3	A	T	3: 155,187,970	H436L	probably benign	Het
Mad2l1bp	T	C	17: 46,148,263	K114E	possibly damaging	Het
Mamstr	T	C	7: 45,642,418	V64A	possibly damaging	Het
Map4	T	A	9: 110,035,257	S517T	probably benign	Het
Matn1	A	T	4: 130,950,025	I182F	possibly damaging	Het
Mcm3	A	G	1: 20,810,156	I484T	probably damaging	Het
Med13	T	A	11: 86,278,773	I1922F	probably damaging	Het
Metap2	A	G	10: 93,868,895	V137A	probably damaging	Het
Mex3d	A	G	10: 80,386,954	V156A	possibly damaging	Het
Mfsd6	G	A	1: 52,709,596	P37S	probably benign	Het
Mkl1	T	C	15: 81,104,799	E7G	probably benign	Het
Mrgprx1	A	C	7: 48,021,211	S263A	possibly damaging	Het
Msl1	C	T	11: 98,803,969	R505*	probably null	Het
Mta2	T	C	19: 8,945,851	S96P	probably damaging	Het
Mtr	A	T	13: 12,195,251	N986K	probably benign	Het
Mut	A	G	17: 40,937,351	T90A	probably benign	Het
Mutyh	C	T	4: 116,817,029	T259I	probably benign	Het
Myof	T	C	19: 37,945,738	T908A	probably benign	Het
Nav2	A	T	7: 49,545,852	D992V	possibly damaging	Het
Neb	T	C	2: 52,200,703	T1352A	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Nudt6	G	A	3: 37,405,354	R161C	probably benign	Het
Olfr1122	T	A	2: 87,388,209	V168E	probably benign	Het
Olfr1173	T	A	2: 88,274,879	M57L	probably damaging	Het
Olfr125	T	C	17: 37,835,349	Y117H	probably damaging	Het
Olfr1276	T	A	2: 111,257,152	F12L	probably damaging	Het
Olfr1411	T	A	1: 92,596,998	C160S	probably benign	Het
Olfr154	T	A	2: 85,664,278	D52V	probably damaging	Het
Olfr23	T	A	11: 73,940,870	I208K	possibly damaging	Het
Olfr319	T	C	11: 58,701,791	V30A	probably benign	Het
Olfr456	A	T	6: 42,486,679	N171K	probably benign	Het
Olfr744	A	G	14: 50,619,022	T267A	probably benign	Het
Olfr959	T	G	9: 39,572,858	M134L	probably benign	Het
Olr1	A	G	6: 129,488,090	F141S	possibly damaging	Het
Oprl1	G	T	2: 181,719,253	M340I	probably benign	Het
Otogl	A	C	10: 107,901,336	C72W	probably damaging	Het
Pcdha11	T	A	18: 37,005,465	I49N	probably damaging	Het
Pcdha4	T	A	18: 36,953,955	L397*	probably null	Het
Pcdhb14	A	G	18: 37,448,278	S146G	probably benign	Het
Pclo	T	A	5: 14,675,815	H1562Q	unknown	Het
Pcsk9	T	C	4: 106,447,569	E434G	probably benign	Het
Pja2	A	T	17: 64,292,862	S480R	probably damaging	Het
Pkd1	G	A	17: 24,578,096	G2493D	probably damaging	Het
Plk5	G	A	10: 80,359,304	V179M	possibly damaging	Het
Polr1a	G	A	6: 71,976,070	V1541I	probably benign	Het
Ppard	C	G	17: 28,286,374	R12G	unknown	Het
Ppp1r14a	A	G	7: 29,291,526	D73G	probably damaging	Het
Psd3	C	T	8: 68,121,148	R127H	probably benign	Het
Pten	G	T	19: 32,758,503	G20V	possibly damaging	Het
Ptprg	T	C	14: 11,554,233		probably benign	Het
Rad54l	T	C	4: 116,122,924	D21G	probably null	Het
Rgs14	T	C	13: 55,380,957	Y304H	probably damaging	Het
Rgs9	T	C	11: 109,240,868	K346R	probably damaging	Het
Rnf169	C	G	7: 99,926,446	G314A	probably damaging	Het
Rpgrip1l	T	A	8: 91,270,177	T692S	probably damaging	Het
Rtf1	T	C	2: 119,675,228	V54A	possibly damaging	Het
Rtn4	T	C	11: 29,708,660	V938A	probably benign	Het
Ryr2	T	A	13: 11,687,932	D2890V	probably damaging	Het
Ryr2	T	C	13: 11,708,227	T2509A	probably damaging	Het
Scel	A	C	14: 103,583,100	T348P	probably benign	Het
Scgb1b2	G	T	7: 31,291,573	L37I	possibly damaging	Het
Sdf4	A	G	4: 156,000,721	H171R	possibly damaging	Het
Sec31a	A	G	5: 100,393,363	V295A	probably damaging	Het
Setx	T	A	2: 29,146,373	S957T	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Six5	A	G	7: 19,096,969	N507S	probably benign	Het
Slc12a7	T	C	13: 73,763,892		probably null	Het
Slc1a7	T	A	4: 107,993,040	V116E	probably damaging	Het
Slc22a1	A	G	17: 12,675,535	L42P	probably damaging	Het
Slc25a31	A	T	3: 40,721,545	I174F	probably damaging	Het
Slc31a2	A	T	4: 62,292,632	M3L	probably damaging	Het
Slco1a4	T	A	6: 141,845,497		probably benign	Het
Smcr8	C	T	11: 60,778,610		probably null	Het
Smg5	G	T	3: 88,355,692	E801*	probably null	Het
Smgc	C	A	15: 91,854,616	H492Q	probably benign	Het
Smyd4	G	T	11: 75,403,184	G694V	probably damaging	Het
Sorcs3	A	G	19: 48,398,744	T223A	possibly damaging	Het
Stab1	G	T	14: 31,141,371	C2119*	probably null	Het
Taar9	A	G	10: 24,108,843	I231T	probably damaging	Het
Tacr2	A	G	10: 62,261,548	Y269C	probably damaging	Het
Taf3	T	G	2: 9,951,123	K744N	possibly damaging	Het
Tenm4	T	A	7: 96,906,245	V2682E	probably damaging	Het
Tet1	A	C	10: 62,822,663	L1468R	probably damaging	Het
Tgds	T	C	14: 118,117,033		probably benign	Het
Tgfb2	A	T	1: 186,628,913	Y380*	probably null	Het
Tgm5	T	G	2: 121,052,472	K435Q	probably damaging	Het
Themis	A	G	10: 28,761,511	T204A	probably benign	Het
Tm4sf1	T	C	3: 57,294,679	Y37C	probably damaging	Het
Tnn	T	C	1: 160,145,033	N333S	possibly damaging	Het
Tppp2	A	G	14: 51,919,348	N61D	probably benign	Het
Treml2	A	G	17: 48,309,159	T276A	probably benign	Het
Trit1	T	C	4: 123,016,638	V10A	probably benign	Het
Uba1y	T	G	Y: 825,890		probably null	Het
Uqcc1	T	C	2: 155,858,106		probably benign	Het
Vcam1	C	G	3: 116,115,935	G581A	probably damaging	Het
Vmn1r16	G	A	6: 57,323,190	T149I	probably benign	Het
Vmn1r209	T	C	13: 22,805,656	D288G	probably damaging	Het
Vmn1r78	T	A	7: 12,152,964	Y167*	probably null	Het
Vmn2r103	T	A	17: 19,795,076	S493T	probably benign	Het
Vmn2r105	T	A	17: 20,227,294	M423L	probably benign	Het
Vps13c	T	C	9: 67,964,282	F3244L	probably damaging	Het
Zfp119b	A	T	17: 55,939,642	D149E	probably damaging	Het
Zfp345	T	C	2: 150,473,308	Y103C	possibly damaging	Het
Zmym6	C	T	4: 127,123,216	T930I	probably benign	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
R4802:Phc2	UTSW	4	128751598	missense	probably damaging	1.00
R4948:Phc2	UTSW	4	128723115	missense	probably benign	0.00
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
R7949:Phc2	UTSW	4	128709608	missense	probably damaging	0.97
R7995:Phc2	UTSW	4	128709608	missense	probably damaging	0.97
R8053:Phc2	UTSW	4	128709640	nonsense	probably null
R8078:Phc2	UTSW	4	128711062	missense	probably damaging	1.00
R8209:Phc2	UTSW	4	128709506	missense	probably benign	0.03
R8331:Phc2	UTSW	4	128712194	nonsense	probably null
R9058:Phc2	UTSW	4	128722976	missense	probably benign	0.01
R9228:Phc2	UTSW	4	128723269	missense	probably damaging	1.00
R9653:Phc2	UTSW	4	128747219	missense	probably damaging	1.00
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

Posted On

2017-04-14