Mutagenetix > Incidental Mutation

Incidental Mutation 'R5569:Pcgf2'

501153

Institutional Source

Beutler Lab

Gene Symbol

Pcgf2

Ensembl Gene

ENSMUSG00000018537

Gene Name

polycomb group ring finger 2

Synonyms

mel-18, Mel18, Zfp144, Rnf110

MMRRC Submission

043126-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5569 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97579649-97591323 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 97583193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018681] [ENSMUST00000103148] [ENSMUST00000103149] [ENSMUST00000107583] [ENSMUST00000107584] [ENSMUST00000107585] [ENSMUST00000169807] [ENSMUST00000179765] [ENSMUST00000179765]

AlphaFold

P23798

Predicted Effect

probably null
Transcript: ENSMUST00000018681

SMART Domains

Protein: ENSMUSP00000018681
Gene: ENSMUSG00000018537

Domain	Start	End	E-Value	Type
RING	18	56	4.99e-5	SMART
low complexity region	263	318	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000103148

SMART Domains

Protein: ENSMUSP00000099437
Gene: ENSMUSG00000018537

Domain	Start	End	E-Value	Type
RING	18	56	4.99e-5	SMART
low complexity region	263	318	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000103149

SMART Domains

Protein: ENSMUSP00000099438
Gene: ENSMUSG00000018537

Domain	Start	End	E-Value	Type
low complexity region	79	134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107583

SMART Domains

Protein: ENSMUSP00000103209
Gene: ENSMUSG00000078695

Domain	Start	End	E-Value	Type
ZnF_CDGSH	54	88	3.39e-9	SMART
ZnF_CDGSH	92	129	5.55e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107584

SMART Domains

Protein: ENSMUSP00000103210
Gene: ENSMUSG00000078695

Domain	Start	End	E-Value	Type
ZnF_CDGSH	32	66	3.39e-9	SMART
ZnF_CDGSH	70	107	5.55e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107585

SMART Domains

Protein: ENSMUSP00000103211
Gene: ENSMUSG00000078695

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
ZnF_CDGSH	51	85	3.39e-9	SMART
ZnF_CDGSH	89	126	5.55e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134003

Predicted Effect

probably null
Transcript: ENSMUST00000169807

SMART Domains

Protein: ENSMUSP00000126967
Gene: ENSMUSG00000018537

Domain	Start	End	E-Value	Type
RING	18	56	4.99e-5	SMART
Pfam:RAWUL	146	228	1.9e-26	PFAM
low complexity region	263	318	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000179765

SMART Domains

Protein: ENSMUSP00000137517
Gene: ENSMUSG00000018537

Domain	Start	End	E-Value	Type
RING	18	56	4.99e-5	SMART
low complexity region	263	318	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000179765

SMART Domains

Protein: ENSMUSP00000137517
Gene: ENSMUSG00000018537

Domain	Start	End	E-Value	Type
RING	18	56	4.99e-5	SMART
low complexity region	263	318	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit multiple abnormalities of the axial skeleton (including homeotic transformations), grow markedly slower, and die either perinatally or between 3-6 weeks of age depending on genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,764,143 (GRCm39)	S929P	probably damaging	Het
Ackr3	A	G	1: 90,142,563 (GRCm39)	T341A	probably benign	Het
Acox3	A	G	5: 35,760,377 (GRCm39)	Y431C	probably damaging	Het
Adamtsl2	G	A	2: 26,992,845 (GRCm39)	V653M	probably damaging	Het
Anks6	T	C	4: 47,045,007 (GRCm39)	K300E	probably damaging	Het
Ap5z1	A	T	5: 142,460,206 (GRCm39)	D495V	probably damaging	Het
Atm	A	T	9: 53,427,750 (GRCm39)	Y453*	probably null	Het
Atpaf2	A	T	11: 60,307,706 (GRCm39)	W11R	probably damaging	Het
Bhmt1b	A	C	18: 87,775,392 (GRCm39)	Y305S	probably damaging	Het
Capn1	T	A	19: 6,063,690 (GRCm39)	T129S	probably benign	Het
Catspere2	A	T	1: 177,939,162 (GRCm39)	K678N	possibly damaging	Het
Cdh17	A	G	4: 11,816,990 (GRCm39)	I800M	probably damaging	Het
Cfap206	C	T	4: 34,724,892 (GRCm39)	R69Q	probably damaging	Het
Cp	T	C	3: 20,033,041 (GRCm39)	Y623H	probably damaging	Het
Dcaf5	A	T	12: 80,386,975 (GRCm39)	Y384N	probably damaging	Het
Dhx9	A	T	1: 153,342,838 (GRCm39)	C555S	possibly damaging	Het
Dlg2	A	G	7: 91,617,388 (GRCm39)	T317A	probably benign	Het
Dsp	C	T	13: 38,376,628 (GRCm39)	T1471I	probably benign	Het
Ebf1	A	G	11: 44,883,228 (GRCm39)	M489V	possibly damaging	Het
Enpp3	T	C	10: 24,654,719 (GRCm39)	D230G	probably damaging	Het
Eri3	T	C	4: 117,506,553 (GRCm39)	M294T	possibly damaging	Het
Fat1	T	A	8: 45,492,873 (GRCm39)	V3842E	probably damaging	Het
Fermt1	T	A	2: 132,757,123 (GRCm39)	Y569F	possibly damaging	Het
Fscn1	A	G	5: 142,946,799 (GRCm39)	D199G	probably benign	Het
Glce	A	G	9: 61,977,485 (GRCm39)	V133A	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hk1	A	G	10: 62,122,220 (GRCm39)	S520P	probably benign	Het
Ighv12-3	A	G	12: 114,330,555 (GRCm39)	V7A	probably benign	Het
Ighv6-7	C	A	12: 114,419,476 (GRCm39)	A43S	probably damaging	Het
Inf2	A	G	12: 112,568,113 (GRCm39)	I222V	possibly damaging	Het
Kmo	T	A	1: 175,482,688 (GRCm39)	N337K	probably benign	Het
Mcf2l	C	T	8: 13,055,481 (GRCm39)	R611W	probably damaging	Het
Mipep	A	T	14: 61,040,383 (GRCm39)	H301L	probably damaging	Het
Mprip	A	T	11: 59,651,789 (GRCm39)	E1831V	probably damaging	Het
Mrgpra3	T	C	7: 47,239,759 (GRCm39)	T56A	probably benign	Het
Mtmr14	G	A	6: 113,217,246 (GRCm39)	V53I	probably damaging	Het
Mycbp2	A	T	14: 103,372,679 (GRCm39)	W4056R	probably damaging	Het
Myl2	A	T	5: 122,244,783 (GRCm39)	D151V	possibly damaging	Het
Myo5c	A	T	9: 75,180,792 (GRCm39)	D727V	probably damaging	Het
Or10s1	A	G	9: 39,985,593 (GRCm39)	M1V	probably null	Het
Or1e22	A	T	11: 73,377,518 (GRCm39)	I44N	probably damaging	Het
Or2ag12	A	T	7: 106,277,690 (GRCm39)	M1K	probably null	Het
Or56b1b	T	A	7: 108,164,772 (GRCm39)	M77L	probably benign	Het
Or9s18	A	G	13: 65,300,793 (GRCm39)	T252A	possibly damaging	Het
Pabpc1l	C	T	2: 163,885,474 (GRCm39)	T409I	probably benign	Het
Pcgf1	C	T	6: 83,056,686 (GRCm39)	R81*	probably null	Het
Phf14	T	A	6: 11,934,015 (GRCm39)	N292K	probably damaging	Het
Plin4	T	C	17: 56,409,147 (GRCm39)	T1358A	probably benign	Het
Pomgnt1	T	C	4: 116,013,164 (GRCm39)	S423P	probably damaging	Het
Prep	G	A	10: 44,973,533 (GRCm39)	V214I	probably benign	Het
Ptger1	T	C	8: 84,394,961 (GRCm39)		probably null	Het
Pus7	C	T	5: 23,953,832 (GRCm39)	G415D	probably benign	Het
Rbm44	C	T	1: 91,096,460 (GRCm39)	P940S	probably damaging	Het
Ripor1	A	T	8: 106,344,147 (GRCm39)	D427V	probably damaging	Het
Rp1	A	G	1: 4,415,460 (GRCm39)	I1884T	probably damaging	Het
Rpl15-ps6	T	C	15: 52,341,624 (GRCm39)		noncoding transcript	Het
Serinc2	T	C	4: 130,172,272 (GRCm39)	R7G	probably benign	Het
Serpina6	A	C	12: 103,620,719 (GRCm39)	F10C	possibly damaging	Het
Skint5	T	A	4: 113,545,903 (GRCm39)		probably null	Het
Slc66a3	T	A	12: 17,045,629 (GRCm39)	I114F	possibly damaging	Het
Slc6a4	A	T	11: 76,914,081 (GRCm39)	I544F	possibly damaging	Het
Spdye4b	T	C	5: 143,188,176 (GRCm39)	M223T	probably benign	Het
Tbc1d17	A	T	7: 44,497,755 (GRCm39)	V39D	probably damaging	Het
Thbs3	T	A	3: 89,126,770 (GRCm39)	Y295N	probably damaging	Het
Themis	G	A	10: 28,657,887 (GRCm39)	E152K	possibly damaging	Het
Tmem131	A	T	1: 36,838,419 (GRCm39)	I1502N	probably benign	Het
Tmem43	T	A	6: 91,454,336 (GRCm39)	M41K	probably benign	Het
Tmprss6	A	C	15: 78,324,503 (GRCm39)	W771G	probably damaging	Het
Trp53tg5	T	C	2: 164,313,256 (GRCm39)	T140A	probably benign	Het
Uchl1	A	G	5: 66,844,216 (GRCm39)	E206G	probably damaging	Het
Vash2	A	G	1: 190,692,488 (GRCm39)	V229A	possibly damaging	Het
Vmn1r192	C	A	13: 22,371,384 (GRCm39)	A279S	possibly damaging	Het
Vmn1r32	T	C	6: 66,530,156 (GRCm39)	R207G	probably damaging	Het
Vmn2r14	T	A	5: 109,368,261 (GRCm39)	M244L	probably benign	Het
Vwa5b2	T	A	16: 20,414,089 (GRCm39)	H236Q	probably damaging	Het
Zfp652	C	T	11: 95,640,116 (GRCm39)	P14S	probably benign	Het
Zfp668	G	A	7: 127,466,995 (GRCm39)	R194*	probably null	Het
Zgrf1	G	T	3: 127,354,674 (GRCm39)	V98L	probably benign	Het

Other mutations in Pcgf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Pcgf2	APN	11	97,581,066 (GRCm39)	missense	probably benign	0.01
IGL01877:Pcgf2	APN	11	97,583,359 (GRCm39)	missense	probably damaging	1.00
IGL02473:Pcgf2	APN	11	97,582,747 (GRCm39)	splice site	probably benign
R0243:Pcgf2	UTSW	11	97,583,244 (GRCm39)	splice site	probably null
R0522:Pcgf2	UTSW	11	97,582,873 (GRCm39)	missense	probably benign	0.31
R0712:Pcgf2	UTSW	11	97,581,830 (GRCm39)	missense	probably damaging	1.00
R0781:Pcgf2	UTSW	11	97,582,676 (GRCm39)	splice site	probably benign
R1110:Pcgf2	UTSW	11	97,582,676 (GRCm39)	splice site	probably benign
R4295:Pcgf2	UTSW	11	97,584,282 (GRCm39)	nonsense	probably null
R4959:Pcgf2	UTSW	11	97,582,515 (GRCm39)	missense	possibly damaging	0.85
R5622:Pcgf2	UTSW	11	97,581,078 (GRCm39)	missense	probably damaging	1.00
R5779:Pcgf2	UTSW	11	97,581,117 (GRCm39)	missense	probably damaging	1.00
R6001:Pcgf2	UTSW	11	97,583,606 (GRCm39)	missense	possibly damaging	0.91
R6090:Pcgf2	UTSW	11	97,581,817 (GRCm39)	missense	possibly damaging	0.71
R6360:Pcgf2	UTSW	11	97,583,235 (GRCm39)	splice site	probably null
R8228:Pcgf2	UTSW	11	97,582,865 (GRCm39)	missense	probably benign	0.00
R8309:Pcgf2	UTSW	11	97,582,569 (GRCm39)	missense	probably benign	0.09
Z1176:Pcgf2	UTSW	11	97,580,847 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGGGCAGCTCAGAGATTG -3'
(R):5'- AAGGACCCGTGGTTGCTAATG -3'

Sequencing Primer
(F):5'- TCAGAGATTGAGCCCAGTCC -3'
(R):5'- GGTTGCTAATGCTCCTGTATAATC -3'

Posted On

2017-12-01