Mutagenetix > Incidental Mutation

Incidental Mutation 'R2063:Phc2'

228833

Institutional Source

Beutler Lab

Gene Symbol

Phc2

Ensembl Gene

ENSMUSG00000028796

Gene Name

polyhomeotic 2

Synonyms

D4Ertd810e, Mph2, Edr2, D130050K19Rik

MMRRC Submission

040068-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2063 (G1)

Quality Score

225

Status

Not 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: 95.5%

Validation Efficiency

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: 89 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
Abca15	A	T	7: 119,960,127 (GRCm39)	T637S	possibly damaging	Het
Adgrv1	T	C	13: 81,709,588 (GRCm39)	K1135R	possibly damaging	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
AI467606	A	G	7: 126,692,009 (GRCm39)	S195G	probably damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Cic	T	A	7: 24,972,876 (GRCm39)	V869E	probably damaging	Het
Cpsf2	A	G	12: 101,949,722 (GRCm39)	D118G	probably damaging	Het
Csnk1g1	A	G	9: 65,909,512 (GRCm39)	S210G	probably damaging	Het
Cyp2c40	T	A	19: 39,775,224 (GRCm39)	M343L	probably benign	Het
Cyp4a12b	A	T	4: 115,290,700 (GRCm39)	D274V	possibly damaging	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah3	C	T	7: 119,551,132 (GRCm39)	M3062I	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Elavl2	A	T	4: 91,141,687 (GRCm39)	S278R	possibly damaging	Het
Emilin2	T	C	17: 71,581,950 (GRCm39)	S259G	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Faim2	G	A	15: 99,412,314 (GRCm39)	T140I	probably damaging	Het
Fbxo21	T	C	5: 118,115,031 (GRCm39)	S56P	probably benign	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Foxj2	A	T	6: 122,817,200 (GRCm39)	H509L	probably benign	Het
Fth1	T	A	19: 9,961,576 (GRCm39)	L49Q	probably damaging	Het
Gbp11	C	A	5: 105,476,450 (GRCm39)	E220*	probably null	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm1527	C	A	3: 28,980,796 (GRCm39)	T632N	probably benign	Het
Gm4787	A	T	12: 81,425,694 (GRCm39)	S155T	probably benign	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Helb	T	C	10: 119,941,671 (GRCm39)	Y339C	probably benign	Het
Hs3st4	A	G	7: 123,996,236 (GRCm39)	I301V	probably benign	Het
Hunk	A	G	16: 90,290,368 (GRCm39)	D382G	probably damaging	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il10	T	C	1: 130,947,770 (GRCm39)	L41P	probably damaging	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Krt90	T	C	15: 101,466,794 (GRCm39)	E263G	probably benign	Het
Lama2	C	T	10: 27,040,922 (GRCm39)	C1467Y	probably damaging	Het
Maco1	A	T	4: 134,555,590 (GRCm39)	N294K	possibly damaging	Het
Med24	A	G	11: 98,606,472 (GRCm39)	L330P	probably damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Mtcl1	T	C	17: 66,653,350 (GRCm39)	R1065G	probably damaging	Het
Mtmr14	G	A	6: 113,217,322 (GRCm39)	G38D	probably damaging	Het
Mtus1	T	C	8: 41,535,745 (GRCm39)	E657G	probably damaging	Het
Muc21	T	A	17: 35,932,297 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,189,150 (GRCm39)	Q1020L	probably benign	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nckap1	T	C	2: 80,400,494 (GRCm39)	K69R	probably damaging	Het
Nlrp1b	T	C	11: 71,051,912 (GRCm39)	N1012D	probably benign	Het
Ntrk2	A	C	13: 59,007,111 (GRCm39)	K238Q	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or52n2b	T	C	7: 104,565,982 (GRCm39)	N174D	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pfpl	C	T	19: 12,407,237 (GRCm39)	S496L	probably damaging	Het
Pkhd1l1	A	T	15: 44,414,148 (GRCm39)	H2805L	possibly damaging	Het
Pla2g4a	T	C	1: 149,716,427 (GRCm39)	N678S	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Polr1a	T	G	6: 71,913,269 (GRCm39)		probably null	Het
Prl3d3	A	C	13: 27,346,304 (GRCm39)	E180D	probably benign	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Prpf3	A	T	3: 95,751,551 (GRCm39)	D383E	probably benign	Het
Psmc4	A	T	7: 27,748,322 (GRCm39)	L73H	probably damaging	Het
Rapgef3	C	A	15: 97,664,842 (GRCm39)	G7V	probably damaging	Het
Rasl12	G	A	9: 65,318,106 (GRCm39)	G157R	probably damaging	Het
Rnf38	A	C	4: 44,149,098 (GRCm39)	V83G	probably damaging	Het
Rnls	A	C	19: 33,179,944 (GRCm39)	S51A	probably benign	Het
Siglecf	A	G	7: 43,001,804 (GRCm39)	T205A	possibly damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc12a5	C	T	2: 164,839,067 (GRCm39)	R1072W	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,998,320 (GRCm39)		probably benign	Het
Specc1	T	G	11: 62,009,122 (GRCm39)	S293A	probably benign	Het
Speer2	T	G	16: 69,657,385 (GRCm39)	Q86P	probably benign	Het
Tbc1d15	T	C	10: 115,065,078 (GRCm39)	D169G	probably benign	Het
Tbx20	C	A	9: 24,681,067 (GRCm39)	E142*	probably null	Het
Tcp1	T	A	17: 13,139,699 (GRCm39)	L199H	probably damaging	Het
Tex26	A	T	5: 149,363,204 (GRCm39)	R5W	probably damaging	Het
Tg	C	A	15: 66,700,402 (GRCm39)	A120E	probably damaging	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ush1c	T	C	7: 45,878,905 (GRCm39)	Y74C	probably damaging	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
Vps54	C	T	11: 21,227,955 (GRCm39)	T176I	probably damaging	Het
Wdr95	T	C	5: 149,502,627 (GRCm39)		probably null	Het
Zfp81	T	C	17: 33,554,278 (GRCm39)	T179A	probably benign	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
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
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'- CGGAAAGGGTAAGGTCTATGTC -3'

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

Posted On

2014-09-17