Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Pcgf2'

513081

Institutional Source

Beutler Lab

Gene Symbol

Pcgf2

Ensembl Gene

ENSMUSG00000018537

Gene Name

polycomb group ring finger 2

Synonyms

mel-18, Rnf110, Zfp144

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97688823-97700497 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 97692409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099438 (fasta)

Gene Model

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

AlphaFold

P23798

Predicted Effect

probably benign
Transcript: ENSMUST00000018681
AA Change: K92N

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018681
Gene: ENSMUSG00000018537
AA Change: K92N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103148
AA Change: K92N

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099437
Gene: ENSMUSG00000018537
AA Change: K92N

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 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 benign
Transcript: ENSMUST00000169807
AA Change: K92N

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126967
Gene: ENSMUSG00000018537
AA Change: K92N

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 benign
Transcript: ENSMUST00000179765
AA Change: K92N

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137517
Gene: ENSMUSG00000018537
AA Change: K92N

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

Meta Mutation Damage Score

0.3382

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,259,202	Q657*	probably null	Het
Car15	T	C	16: 17,838,066	T560A	probably benign	Het
Cass4	C	T	2: 172,432,611	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,460	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,438,429	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,431,736	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,597,455		probably null	Het
Dab2ip	A	G	2: 35,710,266	H355R	probably benign	Het
Dennd2a	C	T	6: 39,493,142	A539T	probably benign	Het
Dnajc18	T	C	18: 35,686,709	E173G	probably damaging	Het
Dock7	T	C	4: 98,969,662	I1472V	probably benign	Het
Esco1	A	T	18: 10,574,931	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619	H73P	probably damaging	Het
Fam46b	T	C	4: 133,486,756	F313L	probably damaging	Het
Flg	A	G	3: 93,290,601		probably benign	Het
Fyn	C	A	10: 39,526,883	T217K	possibly damaging	Het
Gbp9	T	C	5: 105,083,730	D330G	probably benign	Het
Gin1	T	C	1: 97,792,539	S509P	possibly damaging	Het
Gm15922	A	T	7: 3,736,504	L455Q	probably damaging	Het
Gm17067	A	C	7: 42,708,482	S199A	probably benign	Het
Grk4	A	T	5: 34,674,537	K50M	probably damaging	Het
Inpp4b	A	G	8: 81,902,852	H272R	probably benign	Het
Ipo7	T	A	7: 110,027,129	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,779,206	I515T	probably damaging	Het
Kcnu1	T	A	8: 25,861,180	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,173,270	N336S	probably benign	Het
Lbr	G	T	1: 181,832,155	D158E	probably benign	Het
Mphosph10	T	C	7: 64,389,955	Q89R	probably benign	Het
Nectin3	T	A	16: 46,411,109	T21S	probably benign	Het
Numb	C	A	12: 83,797,262	R383L	probably damaging	Het
Olfr1370	A	T	13: 21,072,583	N239K	probably damaging	Het
Olfr461	G	T	6: 40,544,713	Q89K	possibly damaging	Het
Park2	T	C	17: 12,004,052	F363S	probably damaging	Het
Pcdhb11	A	T	18: 37,422,159	I181F	probably benign	Het
Pdzd8	T	C	19: 59,300,983	T662A	probably benign	Het
Pex13	A	C	11: 23,655,690	V180G	probably benign	Het
Pkp4	T	A	2: 59,214,747	V22D	probably benign	Het
Ppp1r32	T	C	19: 10,479,481	N167D	probably damaging	Het
Prpf4b	A	C	13: 34,901,433	D954A	probably damaging	Het
Rfx8	T	C	1: 39,680,965	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,361,419	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778	C453S	possibly damaging	Het
Scarf1	G	T	11: 75,515,669	G260W	probably damaging	Het
Scyl1	T	C	19: 5,760,571	E538G	probably damaging	Het
Sec14l5	A	T	16: 5,172,995	I267F	probably damaging	Het
Senp6	T	A	9: 80,113,806	V256D	probably benign	Het
Sf3b4	G	A	3: 96,176,728		probably benign	Het
Ssh1	T	C	5: 113,961,347		probably null	Het
Tas2r143	A	C	6: 42,400,835	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,214,629	P19S	probably damaging	Het
Tmc5	T	A	7: 118,633,966	M1K	probably null	Het
Tnc	T	C	4: 64,000,733	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,769,441	E285G	probably damaging	Het
Txndc11	C	T	16: 11,084,792	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,663,082	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476	I369L	probably benign	Het
Vwf	A	T	6: 125,683,526	T2666S	probably benign	Het
Yif1a	A	G	19: 5,092,341	M259V	probably benign	Het
Zbtb46	T	C	2: 181,391,455	D471G	probably damaging	Het

Other mutations in Pcgf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Pcgf2	APN	11	97690240	missense	probably benign	0.01
IGL01877:Pcgf2	APN	11	97692533	missense	probably damaging	1.00
IGL02473:Pcgf2	APN	11	97691921	splice site	probably benign
R0243:Pcgf2	UTSW	11	97692418	splice site	probably null
R0522:Pcgf2	UTSW	11	97692047	missense	probably benign	0.31
R0712:Pcgf2	UTSW	11	97691004	missense	probably damaging	1.00
R0781:Pcgf2	UTSW	11	97691850	splice site	probably benign
R1110:Pcgf2	UTSW	11	97691850	splice site	probably benign
R4295:Pcgf2	UTSW	11	97693456	nonsense	probably null
R4959:Pcgf2	UTSW	11	97691689	missense	possibly damaging	0.85
R5569:Pcgf2	UTSW	11	97692367	critical splice donor site	probably null
R5622:Pcgf2	UTSW	11	97690252	missense	probably damaging	1.00
R5779:Pcgf2	UTSW	11	97690291	missense	probably damaging	1.00
R6001:Pcgf2	UTSW	11	97692780	missense	possibly damaging	0.91
R6090:Pcgf2	UTSW	11	97690991	missense	possibly damaging	0.71
R8228:Pcgf2	UTSW	11	97692039	missense	probably benign	0.00
R8309:Pcgf2	UTSW	11	97691743	missense	probably benign	0.09
Z1176:Pcgf2	UTSW	11	97690021	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACAGTACTGTAGCTGGG -3'
(R):5'- AAGGGGTACAGAGCTGATCC -3'

Sequencing Primer
(F):5'- ACAGTACTGTAGCTGGGAGATCTG -3'
(R):5'- ACCCGTGGTTGCTAATGC -3'

Posted On

2018-04-27