Mutagenetix > Incidental Mutation

Incidental Mutation 'R0522:Pcgf2'

48651

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

038715-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97579649-97591323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 97582873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 135 (I135M)

Ref Sequence

ENSEMBL: ENSMUSP00000137517 (fasta)

Gene Model

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

AlphaFold

P23798

Predicted Effect

probably benign
Transcript: ENSMUST00000018681
AA Change: I135M

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

SMART Domains

Protein: ENSMUSP00000018681
Gene: ENSMUSG00000018537
AA Change: I135M

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: I135M

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

SMART Domains

Protein: ENSMUSP00000099437
Gene: ENSMUSG00000018537
AA Change: I135M

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: 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: ENSMUST00000134003

Predicted Effect

probably benign
Transcript: ENSMUST00000169807
AA Change: I135M

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

SMART Domains

Protein: ENSMUSP00000126967
Gene: ENSMUSG00000018537
AA Change: I135M

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: I135M

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

SMART Domains

Protein: ENSMUSP00000137517
Gene: ENSMUSG00000018537
AA Change: I135M

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	A	G	8: 84,456,805 (GRCm39)	I192T	probably benign	Het
Adgrl3	T	C	5: 81,874,648 (GRCm39)	Y982H	possibly damaging	Het
Adgrv1	T	A	13: 81,676,561 (GRCm39)		probably benign	Het
Alms1	T	C	6: 85,598,597 (GRCm39)	V1610A	probably benign	Het
Ankrd24	T	C	10: 81,472,189 (GRCm39)		probably benign	Het
C2cd3	A	G	7: 100,044,429 (GRCm39)	N337S	probably benign	Het
Cdc40	T	C	10: 40,733,608 (GRCm39)	Y114C	probably benign	Het
Cdhr1	A	T	14: 36,815,957 (GRCm39)		probably null	Het
Cfc1	G	A	1: 34,576,234 (GRCm39)	C98Y	probably damaging	Het
Cyp11b2	A	T	15: 74,723,533 (GRCm39)		probably benign	Het
Cyth4	C	A	15: 78,499,985 (GRCm39)	H255Q	possibly damaging	Het
Degs1l	A	C	1: 180,887,312 (GRCm39)	D299A	probably damaging	Het
Dip2a	T	C	10: 76,157,365 (GRCm39)	K80R	probably benign	Het
Dnajb5	G	T	4: 42,957,083 (GRCm39)	D257Y	probably damaging	Het
Dynll1	T	C	5: 115,438,565 (GRCm39)		probably benign	Het
Edn1	T	A	13: 42,458,430 (GRCm39)	V81E	probably damaging	Het
F5	T	C	1: 164,039,332 (GRCm39)	S1981P	probably damaging	Het
Fam186b	T	A	15: 99,178,400 (GRCm39)	M309L	probably benign	Het
Gm14221	G	A	2: 160,416,597 (GRCm39)		noncoding transcript	Het
Gnptab	T	A	10: 88,267,328 (GRCm39)		probably benign	Het
Golgb1	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	16: 36,735,567 (GRCm39)		probably null	Het
Gpr176	A	G	2: 118,114,493 (GRCm39)	C106R	probably damaging	Het
Hdac7	A	T	15: 97,704,560 (GRCm39)		probably null	Het
Hlx	T	C	1: 184,463,837 (GRCm39)	S168G	probably damaging	Het
Hnf1a	G	T	5: 115,088,747 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,949,472 (GRCm39)	L19F	possibly damaging	Het
Hspa14	T	A	2: 3,512,086 (GRCm39)	T63S	probably damaging	Het
Insrr	C	T	3: 87,708,179 (GRCm39)	S207F	probably damaging	Het
Jak3	C	A	8: 72,134,918 (GRCm39)		probably benign	Het
Jmjd7	G	A	2: 119,860,822 (GRCm39)	A91T	probably damaging	Het
Lgals9	G	T	11: 78,856,638 (GRCm39)	H265Q	possibly damaging	Het
Lrriq1	T	G	10: 102,997,638 (GRCm39)	N1326H	probably damaging	Het
Mdn1	C	A	4: 32,672,837 (GRCm39)	Q486K	probably benign	Het
Mpeg1	A	G	19: 12,439,123 (GRCm39)	T194A	probably damaging	Het
Nek5	T	A	8: 22,578,813 (GRCm39)		probably benign	Het
Phactr1	G	T	13: 43,213,067 (GRCm39)	A222S	probably benign	Het
Pla2r1	T	C	2: 60,309,859 (GRCm39)	S575G	probably benign	Het
Plcg2	T	C	8: 118,341,027 (GRCm39)		probably null	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Polg	A	G	7: 79,109,899 (GRCm39)		probably benign	Het
Poteg	T	G	8: 27,939,986 (GRCm39)	L48V	possibly damaging	Het
Prmt1	A	T	7: 44,631,203 (GRCm39)	C50S	probably benign	Het
Prx	T	A	7: 27,217,620 (GRCm39)	V707E	probably damaging	Het
Rrp12	C	T	19: 41,863,144 (GRCm39)		probably benign	Het
Saxo1	A	T	4: 86,363,340 (GRCm39)	V381E	probably damaging	Het
Sh2d2a	T	C	3: 87,754,416 (GRCm39)		probably null	Het
Slc26a5	A	C	5: 22,051,343 (GRCm39)	I57R	probably damaging	Het
Slc38a3	T	A	9: 107,532,412 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,926,534 (GRCm39)	T188A	probably damaging	Het
Slc7a13	A	G	4: 19,824,010 (GRCm39)	I260V	probably benign	Het
Smg8	A	T	11: 86,977,288 (GRCm39)	S98T	probably benign	Het
Spart	T	A	3: 55,035,786 (GRCm39)	S548R	probably damaging	Het
Sult6b1	C	T	17: 79,212,958 (GRCm39)	G98S	probably damaging	Het
Tbc1d2	A	G	4: 46,649,806 (GRCm39)	Y77H	probably damaging	Het
Tet2	T	A	3: 133,172,565 (GRCm39)	D1899V	probably damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Uap1l1	T	C	2: 25,253,289 (GRCm39)	E382G	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Ugt1a9	T	C	1: 87,999,114 (GRCm39)	V188A	probably damaging	Het
Virma	T	C	4: 11,519,416 (GRCm39)		probably null	Het
Xrcc6	T	C	15: 81,906,793 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zfp804b	T	A	5: 6,822,014 (GRCm39)	T350S	probably benign	Het
Zfp959	G	T	17: 56,203,201 (GRCm39)	R61M	probably null	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
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
R5569:Pcgf2	UTSW	11	97,583,193 (GRCm39)	critical splice donor site	probably null
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'- ATTCATGGCACTCTCAGCCCACAG -3'
(R):5'- CGACGGGACTTCTATGCAGCATAC -3'

Sequencing Primer
(F):5'- AGCCCACAGCTAGACAGG -3'
(R):5'- TTCCTGAAGCAACGTGACTG -3'

Posted On

2013-06-12