Incidental Mutation 'R8228:Pcgf2'
| ID |
637066 |
| 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 |
067661-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8228 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
97579649-97591323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97582865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 138
(Y138C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018681
(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: Y138C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000018681
Gene: ENSMUSG00000018537
AA Change: Y138C
| 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: Y138C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099437
Gene: ENSMUSG00000018537
AA Change: Y138C
| 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 |
probably benign
Transcript: ENSMUST00000169807
AA Change: Y138C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126967
Gene: ENSMUSG00000018537
AA Change: Y138C
| 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: Y138C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000137517
Gene: ENSMUSG00000018537
AA Change: Y138C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
C |
6: 72,324,500 (GRCm39) |
|
probably null |
Het |
| 1700008O03Rik |
A |
G |
7: 44,009,729 (GRCm39) |
Y158H |
probably benign |
Het |
| 4930438A08Rik |
T |
A |
11: 58,182,381 (GRCm39) |
I252N |
|
Het |
| A930011G23Rik |
G |
A |
5: 99,524,980 (GRCm39) |
P60S |
probably damaging |
Het |
| Abcf1 |
A |
G |
17: 36,271,933 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,026,260 (GRCm39) |
T14A |
probably damaging |
Het |
| Alox12b |
T |
C |
11: 69,054,755 (GRCm39) |
Y253H |
probably damaging |
Het |
| Anapc1 |
T |
A |
2: 128,461,837 (GRCm39) |
K1756* |
probably null |
Het |
| Arid5b |
T |
A |
10: 68,114,536 (GRCm39) |
E2V |
possibly damaging |
Het |
| Atp13a1 |
G |
A |
8: 70,251,569 (GRCm39) |
V545M |
probably damaging |
Het |
| Atp2b4 |
TTCTTC |
TTCTTCCTCTTC |
1: 133,629,459 (GRCm39) |
|
probably benign |
Het |
| Cert1 |
A |
G |
13: 96,679,723 (GRCm39) |
T18A |
probably benign |
Het |
| Cfap119 |
G |
A |
7: 127,184,179 (GRCm39) |
T239M |
probably benign |
Het |
| Col1a1 |
T |
G |
11: 94,836,426 (GRCm39) |
|
probably null |
Het |
| Csdc2 |
C |
T |
15: 81,833,411 (GRCm39) |
T136I |
possibly damaging |
Het |
| Dpp9 |
A |
T |
17: 56,498,129 (GRCm39) |
I609N |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Gjb6 |
T |
C |
14: 57,361,926 (GRCm39) |
R112G |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,252,992 (GRCm39) |
K646E |
possibly damaging |
Het |
| Grik5 |
T |
C |
7: 24,709,933 (GRCm39) |
E934G |
probably damaging |
Het |
| Grik5 |
A |
T |
7: 24,745,735 (GRCm39) |
F446Y |
possibly damaging |
Het |
| Iffo2 |
C |
G |
4: 139,302,483 (GRCm39) |
N75K |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,821,041 (GRCm39) |
N649D |
possibly damaging |
Het |
| Lrit2 |
G |
A |
14: 36,791,148 (GRCm39) |
A276T |
probably damaging |
Het |
| Mcm8 |
T |
C |
2: 132,684,714 (GRCm39) |
|
probably null |
Het |
| Mmut |
A |
G |
17: 41,248,219 (GRCm39) |
E82G |
possibly damaging |
Het |
| Or4n4 |
A |
G |
14: 50,518,997 (GRCm39) |
S238P |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,688,284 (GRCm39) |
M255K |
probably benign |
Het |
| Pcdhga8 |
A |
G |
18: 37,861,236 (GRCm39) |
Q764R |
probably benign |
Het |
| Phf20l1 |
G |
T |
15: 66,511,789 (GRCm39) |
V922F |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,792,514 (GRCm39) |
I426N |
probably damaging |
Het |
| Psmd6 |
T |
C |
14: 14,116,843 (GRCm38) |
N160S |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,809,768 (GRCm39) |
D1172G |
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,734,544 (GRCm39) |
Y11H |
possibly damaging |
Het |
| Sec24c |
G |
T |
14: 20,739,975 (GRCm39) |
A635S |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,457,997 (GRCm39) |
I478V |
probably benign |
Het |
| Traip |
T |
C |
9: 107,838,265 (GRCm39) |
M166T |
probably benign |
Het |
| Trdn |
T |
C |
10: 33,033,014 (GRCm39) |
S80P |
probably damaging |
Het |
| Trim46 |
G |
T |
3: 89,142,255 (GRCm39) |
T744N |
probably benign |
Het |
| Tsc1 |
C |
A |
2: 28,566,141 (GRCm39) |
A520D |
probably benign |
Het |
| Usp36 |
T |
C |
11: 118,155,716 (GRCm39) |
E852G |
possibly damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,811,284 (GRCm39) |
T456I |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,956,954 (GRCm39) |
F885S |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,746,818 (GRCm39) |
R354W |
probably damaging |
Het |
| Zfp456 |
C |
A |
13: 67,514,533 (GRCm39) |
C391F |
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 |
|
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 |
|
|
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'- GCATTCATGGCACTCTCAGC -3'
(R):5'- TACAGTACTGTCCAGTGGGG -3'
Sequencing Primer
(F):5'- GCTAGACAGGCCCTAACACTC -3'
(R):5'- GGACTGGGCTCAATCTCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation