Mutagenetix > Incidental Mutation

Incidental Mutation 'R2064:Phc2'

228952

Institutional Source

Beutler Lab

Gene Symbol

Phc2

Ensembl Gene

ENSMUSG00000028796

Gene Name

polyhomeotic 2

Synonyms

D4Ertd810e, Mph2, Edr2, D130050K19Rik

MMRRC Submission

040069-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128548495-128646674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128640929 bp (GRCm39)

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] [ENSMUST00000147572] [ENSMUST00000143632]

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 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

Predicted Effect

probably benign
Transcript: ENSMUST00000143632

Meta Mutation Damage Score

0.1650

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

99% (114/115)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Actr1b	A	G	1: 36,741,168 (GRCm39)	F138L	possibly damaging	Het
Adamts14	G	T	10: 61,041,301 (GRCm39)	P803Q	probably benign	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Aldh16a1	C	T	7: 44,796,585 (GRCm39)		probably null	Het
Alg12	A	G	15: 88,696,318 (GRCm39)	W238R	probably damaging	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Arhgap23	T	A	11: 97,383,888 (GRCm39)	C1144S	probably benign	Het
Arhgef40	G	A	14: 52,233,640 (GRCm39)	V829M	probably damaging	Het
Atg7	C	A	6: 114,680,324 (GRCm39)	N344K	probably damaging	Het
Aunip	T	A	4: 134,250,618 (GRCm39)	S188T	probably benign	Het
Bmpr1b	A	T	3: 141,576,568 (GRCm39)	H88Q	probably benign	Het
Brpf3	G	A	17: 29,040,338 (GRCm39)	G920S	probably benign	Het
Cdc123	C	T	2: 5,800,354 (GRCm39)		probably benign	Het
Cdhr1	T	C	14: 36,817,062 (GRCm39)	R100G	probably benign	Het
Cdkn2d	A	G	9: 21,202,175 (GRCm39)	V24A	probably damaging	Het
Cirbp	T	C	10: 80,006,166 (GRCm39)		probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Col12a1	A	G	9: 79,569,736 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,215,649 (GRCm39)	S402T	probably damaging	Het
Cpox	T	A	16: 58,494,772 (GRCm39)	C270S	probably benign	Het
Cspg4	A	G	9: 56,803,940 (GRCm39)	D1677G	probably damaging	Het
Cyp4a10	T	A	4: 115,381,917 (GRCm39)		probably benign	Het
Dctn4	T	C	18: 60,671,349 (GRCm39)	F74L	possibly damaging	Het
Dennd5a	G	A	7: 109,497,900 (GRCm39)		probably benign	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah9	C	T	11: 66,036,261 (GRCm39)	S185N	probably benign	Het
Dqx1	T	G	6: 83,035,524 (GRCm39)		probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Ep400	A	C	5: 110,883,270 (GRCm39)		probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Exoc2	T	C	13: 31,119,544 (GRCm39)	D119G	probably benign	Het
Fbn2	C	T	18: 58,181,921 (GRCm39)	E1827K	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fgd6	G	A	10: 93,880,903 (GRCm39)	A586T	probably damaging	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm12888	A	T	4: 121,182,069 (GRCm39)	W8R	unknown	Het
Gm2959	A	G	14: 42,235,658 (GRCm39)		noncoding transcript	Het
Gm6214	A	G	3: 140,544,978 (GRCm39)		noncoding transcript	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gmeb2	A	G	2: 180,895,763 (GRCm39)	L469P	probably benign	Het
Gosr1	T	C	11: 76,628,224 (GRCm39)	I177V	probably benign	Het
Gria1	T	C	11: 57,208,534 (GRCm39)	F810L	probably damaging	Het
Gtf2ird2	C	T	5: 134,245,340 (GRCm39)	Q533*	probably null	Het
Hadhb	T	A	5: 30,378,796 (GRCm39)		probably null	Het
Hat1	A	T	2: 71,240,504 (GRCm39)	Y66F	possibly damaging	Het
Hk1	T	C	10: 62,122,315 (GRCm39)	Y488C	probably benign	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il19	T	C	1: 130,866,854 (GRCm39)	H42R	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Impg2	G	A	16: 56,063,993 (GRCm39)		probably null	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itga9	T	C	9: 118,636,361 (GRCm39)	F683S	probably damaging	Het
Itih2	A	G	2: 10,135,385 (GRCm39)	S2P	possibly damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Kcnab1	A	G	3: 65,272,060 (GRCm39)	E315G	probably benign	Het
Kcnmb2	A	C	3: 32,252,437 (GRCm39)	I213L	probably damaging	Het
Khdc1a	T	A	1: 21,421,196 (GRCm39)	M127K	probably benign	Het
Klhl28	T	C	12: 64,990,246 (GRCm39)	N565S	probably benign	Het
Lcp1	A	G	14: 75,435,515 (GRCm39)		probably null	Het
Mcm4	T	C	16: 15,452,333 (GRCm39)	T267A	possibly damaging	Het
Mlxipl	A	T	5: 135,161,631 (GRCm39)	T517S	possibly damaging	Het
Mpp3	T	A	11: 101,891,516 (GRCm39)	I541L	probably benign	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Myh15	G	A	16: 48,975,984 (GRCm39)	A1351T	possibly damaging	Het
Nacc1	A	T	8: 85,399,747 (GRCm39)	M490K	probably benign	Het
Nbeal1	C	A	1: 60,309,515 (GRCm39)	Q496K	possibly damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or14j1	T	A	17: 38,145,893 (GRCm39)	M1K	probably null	Het
Pard3	T	C	8: 128,337,092 (GRCm39)	L1236P	probably damaging	Het
Phf21a	C	A	2: 92,157,422 (GRCm39)	N183K	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Prl3c1	G	A	13: 27,380,720 (GRCm39)		probably null	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Psg16	T	G	7: 16,827,673 (GRCm39)	S210A	possibly damaging	Het
Psg25	T	A	7: 18,255,178 (GRCm39)	K446M	probably damaging	Het
Ptprz1	A	G	6: 23,050,388 (GRCm39)		probably benign	Het
Rgs7	A	T	1: 174,949,508 (GRCm39)	F160L	probably damaging	Het
Rpl22l1	A	T	3: 28,860,957 (GRCm39)	E57D	possibly damaging	Het
Rpl35	A	G	2: 38,894,753 (GRCm39)	L44P	possibly damaging	Het
Rtn4r	T	C	16: 17,969,121 (GRCm39)	L183P	probably damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc4a7	G	A	14: 14,733,773 (GRCm38)	R67H	probably damaging	Het
Smg1	C	T	7: 117,756,090 (GRCm39)		probably benign	Het
Smurf2	T	C	11: 106,762,374 (GRCm39)	T39A	probably damaging	Het
Sspo	A	T	6: 48,450,596 (GRCm39)	D2595V	probably damaging	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Tbc1d14	G	A	5: 36,680,274 (GRCm39)	R68*	probably null	Het
Tgm1	A	G	14: 55,946,928 (GRCm39)	I360T	probably damaging	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Traf1	A	T	2: 34,838,202 (GRCm39)	I212N	probably benign	Het
Ttc17	C	A	2: 94,196,892 (GRCm39)	W485L	probably damaging	Het
Ttn	C	A	2: 76,768,675 (GRCm39)	V2920F	probably damaging	Het
Tyr	T	C	7: 87,142,051 (GRCm39)	I93V	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vmn1r212	A	G	13: 23,068,285 (GRCm39)	V16A	probably benign	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Xirp1	T	C	9: 119,845,962 (GRCm39)	I974V	probably benign	Het
Zap70	A	G	1: 36,818,215 (GRCm39)	T301A	probably benign	Het
Zfhx4	A	G	3: 5,463,987 (GRCm39)	K1382E	probably damaging	Het
Zfp280b	T	A	10: 75,875,017 (GRCm39)	C299S	probably damaging	Het
Zfp352	C	T	4: 90,113,357 (GRCm39)	S499L	probably benign	Het
Zfp423	G	A	8: 88,507,986 (GRCm39)	A661V	probably benign	Het
Zfp57	T	A	17: 37,320,568 (GRCm39)	F141I	possibly damaging	Het
Zfp946	A	T	17: 22,674,446 (GRCm39)	H400L	probably damaging	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably 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
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'- GCAACTGTTACCACACCCTG -3'
(R):5'- AGGGTAAGGTCTATGTCCTCAGG -3'

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

Posted On

2014-09-17