Mutagenetix > Incidental Mutation

Incidental Mutation 'R6090:Pcgf2'

486154

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

044247-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6090 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97579649-97591323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97581817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 25 (M25I)

Ref Sequence

ENSEMBL: ENSMUSP00000099438 (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: M209I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000018681
Gene: ENSMUSG00000018537
AA Change: M209I

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: M209I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099437
Gene: ENSMUSG00000018537
AA Change: M209I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103149
AA Change: M25I

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099438
Gene: ENSMUSG00000018537
AA Change: M25I

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: M209I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126967
Gene: ENSMUSG00000018537
AA Change: M209I

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: M209I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137517
Gene: ENSMUSG00000018537
AA Change: M209I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145623

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.6%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,624,972 (GRCm39)	A450V	probably benign	Het
Abca8a	T	C	11: 109,954,048 (GRCm39)		probably null	Het
Adgrl3	A	T	5: 81,660,173 (GRCm39)	N246I	probably damaging	Het
Bmal2	T	A	6: 146,731,194 (GRCm39)	S500T	possibly damaging	Het
Cdipt	A	T	7: 126,576,131 (GRCm39)	M29L	possibly damaging	Het
Chml	G	T	1: 175,514,624 (GRCm39)	Y432*	probably null	Het
Clasp2	G	T	9: 113,681,803 (GRCm39)	V320L	probably benign	Het
Col12a1	G	A	9: 79,599,675 (GRCm39)	T826M	probably damaging	Het
Cpsf3	A	G	12: 21,345,194 (GRCm39)	I169V	probably damaging	Het
Dhx36	G	A	3: 62,404,241 (GRCm39)	T234M	probably damaging	Het
Dhx57	A	G	17: 80,571,375 (GRCm39)		probably null	Het
Dnah1	A	T	14: 30,991,382 (GRCm39)	I3132N	possibly damaging	Het
Fbxw20	G	T	9: 109,052,431 (GRCm39)	Q231K	probably benign	Het
Gfod1	G	T	13: 43,354,437 (GRCm39)	Y179*	probably null	Het
Glg1	T	A	8: 111,907,667 (GRCm39)	I510F	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,494,151 (GRCm39)		probably benign	Het
Gse1	C	A	8: 121,297,908 (GRCm39)		probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Klrd1	T	C	6: 129,572,499 (GRCm39)	L97P	probably damaging	Het
Lgmn	A	T	12: 102,366,413 (GRCm39)	M240K	probably damaging	Het
Lrp1b	A	G	2: 41,075,880 (GRCm39)		probably null	Het
Notch2	A	T	3: 98,042,693 (GRCm39)	R1353*	probably null	Het
Or2d2b	A	G	7: 106,705,456 (GRCm39)	V204A	possibly damaging	Het
Or5t18	A	C	2: 86,636,701 (GRCm39)	V214G	possibly damaging	Het
Pcdhb14	G	A	18: 37,581,659 (GRCm39)	S255N	probably benign	Het
Poll	G	T	19: 45,544,436 (GRCm39)	D328E	probably benign	Het
Pomgnt2	A	T	9: 121,811,863 (GRCm39)	L306Q	probably damaging	Het
Proser1	A	T	3: 53,386,088 (GRCm39)	M657L	probably benign	Het
Rbm47	G	C	5: 66,183,626 (GRCm39)	R326G	probably damaging	Het
Rdh11	G	T	12: 79,235,838 (GRCm39)	P37T	probably benign	Het
Rsph10b	A	T	5: 143,913,946 (GRCm39)	I286L	probably benign	Het
Septin4	G	A	11: 87,480,343 (GRCm39)	R238K	possibly damaging	Het
Sptan1	C	T	2: 29,883,899 (GRCm39)	R580C	probably damaging	Het
Stard9	T	A	2: 120,524,135 (GRCm39)	W777R	probably damaging	Het
Timd2	T	C	11: 46,578,063 (GRCm39)	T23A	probably benign	Het
Tmc4	A	G	7: 3,674,052 (GRCm39)	Y376H	probably damaging	Het
Tmem143	A	G	7: 45,558,950 (GRCm39)	I297M	probably benign	Het
Togaram1	A	G	12: 65,014,575 (GRCm39)	T609A	probably benign	Het
Tyw3	T	C	3: 154,302,704 (GRCm39)	H10R	probably benign	Het
Unc13b	C	A	4: 43,239,306 (GRCm39)	H3456Q	probably damaging	Het
Zfp131	A	T	13: 120,237,532 (GRCm39)	H275Q	probably damaging	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
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
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'- AAATGGCCTAGAGCTCACCAG -3'
(R):5'- GGTCCTAGAAAGAGAAGCCTCC -3'

Sequencing Primer
(F):5'- TAGAGCTCACCAGGGCCAG -3'
(R):5'- TTCTGGAAGGGAAGTCACATCTAC -3'

Posted On

2017-08-16