Mutagenetix > Incidental Mutation

Incidental Mutation 'R2067:Phc2'

226746

Institutional Source

Beutler Lab

Gene Symbol

Phc2

Ensembl Gene

ENSMUSG00000028796

Gene Name

polyhomeotic 2

Synonyms

Edr2, D4Ertd810e, Mph2, D130050K19Rik

MMRRC Submission

040072-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128654702-128752881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128747136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 672 (F672S)

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: F672S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796
AA Change: F672S

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: F145S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101689
Gene: ENSMUSG00000028796
AA Change: F145S

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: F672S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796
AA Change: F672S

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 damaging
Transcript: ENSMUST00000147572
AA Change: F145S

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

SMART Domains

Protein: ENSMUSP00000118298
Gene: ENSMUSG00000028796
AA Change: F145S

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

0.1650

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (76/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Abca2	A	T	2: 25,437,505	I669F	possibly damaging	Het
Acin1	T	A	14: 54,665,254	Q360H	probably damaging	Het
Aldh3b1	T	A	19: 3,921,755	D72V	probably benign	Het
Alox12e	G	A	11: 70,316,002	R620W	probably damaging	Het
Alpl	T	C	4: 137,749,545		probably benign	Het
Amy2a1	T	C	3: 113,530,568	I108V	probably benign	Het
Ascc2	A	T	11: 4,681,496	M646L	probably benign	Het
Bod1l	G	A	5: 41,817,086	T2295M	probably benign	Het
Ccdc9	A	T	7: 16,278,550		probably null	Het
Clptm1l	C	T	13: 73,607,723	Q153*	probably null	Het
Csmd1	A	G	8: 15,900,782	S3476P	probably benign	Het
Ddias	A	T	7: 92,859,699	M336K	possibly damaging	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Epha1	G	T	6: 42,366,053	H187Q	probably benign	Het
Espl1	T	C	15: 102,299,090	S330P	probably damaging	Het
Fbln7	G	T	2: 128,877,466	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,478,471	W577*	probably null	Het
Fgb	C	A	3: 83,049,689	D25Y	probably benign	Het
Gc	T	A	5: 89,446,517	K37N	probably damaging	Het
Gfpt1	T	C	6: 87,057,754	I178T	probably benign	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm3944	C	A	12: 18,853,894	S8*	probably null	Het
Gm9912	T	C	3: 149,185,159	T113A	unknown	Het
Gpr156	A	G	16: 37,978,751	D109G	probably benign	Het
Hoxd1	A	T	2: 74,763,366	T89S	probably benign	Het
Htt	C	T	5: 34,825,982	T975I	probably benign	Het
Itpr3	G	A	17: 27,098,076	M768I	probably benign	Het
Krt4	C	A	15: 101,924,664	A3S	possibly damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Mup4	T	A	4: 59,960,622		probably benign	Het
Myh1	G	A	11: 67,214,620	D1079N	possibly damaging	Het
Myo1a	A	G	10: 127,705,478	N43D	probably benign	Het
Napa	A	T	7: 16,115,278		probably benign	Het
Ndufa12	A	G	10: 94,220,707	D99G	probably damaging	Het
Neb	A	G	2: 52,284,263	I1528T	probably benign	Het
Nek1	T	C	8: 61,007,162	S41P	probably damaging	Het
Nolc1	C	T	19: 46,083,607	T612M	probably damaging	Het
Nsun5	T	G	5: 135,375,072	Y301D	probably damaging	Het
Oas1g	T	C	5: 120,885,883	E121G	probably damaging	Het
Olfr1085	G	T	2: 86,658,437	T7K	probably damaging	Het
Olfr1170	A	G	2: 88,224,474	V186A	possibly damaging	Het
Olfr324	A	G	11: 58,597,570	N58S	probably damaging	Het
Olfr397	A	G	11: 73,964,914	Y102C	probably damaging	Het
Olfr522	T	A	7: 140,162,909	I14F	possibly damaging	Het
Olfr910	T	A	9: 38,539,280	N128K	probably benign	Het
Osmr	T	C	15: 6,815,415	N957D	probably benign	Het
Parn	G	A	16: 13,603,069	S473L	probably damaging	Het
Pik3c2b	T	C	1: 133,099,611	S1283P	probably damaging	Het
Pole2	G	A	12: 69,228,152	R5W	probably benign	Het
Prl7a2	T	A	13: 27,660,887	Y172F	probably damaging	Het
Ptprz1	A	G	6: 23,050,389		probably benign	Het
Rapgef3	C	A	15: 97,766,961	G7V	probably damaging	Het
Ripor1	T	A	8: 105,617,708	S491R	probably benign	Het
Rnf141	A	G	7: 110,821,365		probably benign	Het
Ryr3	C	T	2: 112,946,957	R285Q	probably damaging	Het
Sall4	T	C	2: 168,756,545	N125S	probably benign	Het
Schip1	A	G	3: 68,617,786	K360R	probably damaging	Het
Senp6	T	A	9: 80,089,869	V55E	probably benign	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Slc25a16	T	A	10: 62,932,751	H130Q	probably benign	Het
Styx	T	C	14: 45,373,563	V217A	probably benign	Het
Syne2	G	A	12: 75,888,342		probably null	Het
Tagap1	A	G	17: 6,956,860	S146P	probably benign	Het
Tatdn2	A	G	6: 113,704,142	K379E	probably benign	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Tle2	T	C	10: 81,580,551	L135P	probably damaging	Het
Tmc1	A	G	19: 20,824,309	F451S	possibly damaging	Het
Trpm7	G	A	2: 126,797,727	P1650S	probably damaging	Het
Ttll4	G	A	1: 74,680,382	R16H	possibly damaging	Het
Ttn	T	C	2: 76,714,373	N32795S	probably damaging	Het
Tubgcp6	T	C	15: 89,104,489	E803G	probably benign	Het
Ubr2	A	G	17: 46,963,145		probably null	Het
Ugt2b35	A	G	5: 87,001,553	D221G	probably damaging	Het
Unc45b	G	A	11: 82,911,689	A4T	probably benign	Het
Vmn1r70	A	T	7: 10,634,337	I251F	possibly damaging	Het
Vmn2r120	T	A	17: 57,524,553	H412L	possibly damaging	Het
Zfp59	A	G	7: 27,853,510	N129S	probably benign	Het
Zgrf1	T	C	3: 127,613,350	C1589R	probably 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
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
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

PCR Primer
(F):5'- GCAACTGTTACCACACCCTG -3'
(R):5'- GAAAGGGTAAGGTCTATGTCCTCAG -3'

Sequencing Primer
(F):5'- CCCTGCCTCCCAAGAAGG -3'
(R):5'- TAAGGTCTATGTCCTCAGGCCCC -3'

Posted On

2014-09-17