Incidental Mutation 'R5779:Pcgf2'
ID |
446885 |
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 |
043377-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5779 (G1)
|
Quality Score |
196 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
97579649-97591323 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 97581117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 58
(P58L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018681]
[ENSMUST00000044730]
[ENSMUST00000103148]
[ENSMUST00000103149]
[ENSMUST00000107583]
[ENSMUST00000107584]
[ENSMUST00000169807]
[ENSMUST00000179765]
[ENSMUST00000107586]
[ENSMUST00000107585]
|
AlphaFold |
P23798 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018681
AA Change: P242L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000018681 Gene: ENSMUSG00000018537 AA Change: P242L
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: ENSMUST00000044730
|
SMART Domains |
Protein: ENSMUSP00000045445 Gene: ENSMUSG00000038437
Domain | Start | End | E-Value | Type |
PHD
|
7 |
55 |
5.92e-7 |
SMART |
PHD
|
119 |
178 |
5e-5 |
SMART |
low complexity region
|
190 |
224 |
N/A |
INTRINSIC |
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
low complexity region
|
290 |
330 |
N/A |
INTRINSIC |
low complexity region
|
358 |
380 |
N/A |
INTRINSIC |
low complexity region
|
398 |
412 |
N/A |
INTRINSIC |
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
low complexity region
|
520 |
536 |
N/A |
INTRINSIC |
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
low complexity region
|
579 |
601 |
N/A |
INTRINSIC |
low complexity region
|
649 |
666 |
N/A |
INTRINSIC |
coiled coil region
|
703 |
744 |
N/A |
INTRINSIC |
low complexity region
|
746 |
756 |
N/A |
INTRINSIC |
low complexity region
|
773 |
782 |
N/A |
INTRINSIC |
low complexity region
|
802 |
848 |
N/A |
INTRINSIC |
low complexity region
|
860 |
901 |
N/A |
INTRINSIC |
coiled coil region
|
915 |
942 |
N/A |
INTRINSIC |
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
low complexity region
|
1026 |
1037 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103148
AA Change: P242L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099437 Gene: ENSMUSG00000018537 AA Change: P242L
Domain | Start | End | E-Value | Type |
RING
|
18 |
56 |
4.99e-5 |
SMART |
low complexity region
|
263 |
318 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103149
AA Change: P58L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099438 Gene: ENSMUSG00000018537 AA Change: P58L
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 damaging
Transcript: ENSMUST00000169807
AA Change: P242L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126967 Gene: ENSMUSG00000018537 AA Change: P242L
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 damaging
Transcript: ENSMUST00000179765
AA Change: P242L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000137517 Gene: ENSMUSG00000018537 AA Change: P242L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134003
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107586
|
SMART Domains |
Protein: ENSMUSP00000103212 Gene: ENSMUSG00000038437
Domain | Start | End | E-Value | Type |
PHD
|
7 |
55 |
5.92e-7 |
SMART |
PHD
|
119 |
178 |
5e-5 |
SMART |
low complexity region
|
190 |
224 |
N/A |
INTRINSIC |
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
low complexity region
|
290 |
330 |
N/A |
INTRINSIC |
low complexity region
|
336 |
356 |
N/A |
INTRINSIC |
low complexity region
|
388 |
410 |
N/A |
INTRINSIC |
low complexity region
|
428 |
442 |
N/A |
INTRINSIC |
low complexity region
|
517 |
528 |
N/A |
INTRINSIC |
low complexity region
|
532 |
546 |
N/A |
INTRINSIC |
low complexity region
|
550 |
566 |
N/A |
INTRINSIC |
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
low complexity region
|
609 |
631 |
N/A |
INTRINSIC |
low complexity region
|
679 |
696 |
N/A |
INTRINSIC |
coiled coil region
|
733 |
774 |
N/A |
INTRINSIC |
low complexity region
|
776 |
786 |
N/A |
INTRINSIC |
low complexity region
|
803 |
812 |
N/A |
INTRINSIC |
low complexity region
|
832 |
878 |
N/A |
INTRINSIC |
low complexity region
|
890 |
931 |
N/A |
INTRINSIC |
coiled coil region
|
945 |
972 |
N/A |
INTRINSIC |
low complexity region
|
1025 |
1048 |
N/A |
INTRINSIC |
low complexity region
|
1056 |
1067 |
N/A |
INTRINSIC |
|
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 |
|
Meta Mutation Damage Score |
0.0808 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
88% (52/59) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,075,496 (GRCm39) |
M1332V |
probably benign |
Het |
Acsbg3 |
A |
T |
17: 57,188,061 (GRCm39) |
N190Y |
probably benign |
Het |
Afg3l2 |
T |
C |
18: 67,573,513 (GRCm39) |
K132R |
probably null |
Het |
Antkmt |
A |
G |
17: 26,009,631 (GRCm39) |
V194A |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,117,418 (GRCm39) |
D886G |
probably damaging |
Het |
B3gntl1 |
G |
T |
11: 121,542,502 (GRCm39) |
|
probably null |
Het |
Cdk12 |
T |
A |
11: 98,109,900 (GRCm39) |
S640R |
probably benign |
Het |
Ceacam12 |
C |
A |
7: 17,803,079 (GRCm39) |
P162T |
probably benign |
Het |
Chrna5 |
C |
A |
9: 54,905,388 (GRCm39) |
H67N |
probably benign |
Het |
Copb1 |
T |
A |
7: 113,818,807 (GRCm39) |
D837V |
probably damaging |
Het |
Dcaf5 |
C |
T |
12: 80,385,606 (GRCm39) |
R840H |
probably benign |
Het |
Ect2l |
T |
A |
10: 18,039,186 (GRCm39) |
Q324L |
probably benign |
Het |
Eef1e1 |
T |
C |
13: 38,830,249 (GRCm39) |
N141S |
probably damaging |
Het |
Eif2ak4 |
A |
C |
2: 118,243,444 (GRCm39) |
N208T |
possibly damaging |
Het |
Ext1 |
A |
G |
15: 53,207,949 (GRCm39) |
Y271H |
probably damaging |
Het |
Fbxo5 |
G |
A |
10: 5,750,303 (GRCm39) |
R323C |
possibly damaging |
Het |
Fpr-rs3 |
C |
A |
17: 20,844,488 (GRCm39) |
A218S |
possibly damaging |
Het |
Gm20499 |
G |
A |
5: 114,955,082 (GRCm39) |
|
probably benign |
Het |
Gm57859 |
A |
G |
11: 113,578,818 (GRCm39) |
D71G |
probably benign |
Het |
Gucy1b2 |
C |
A |
14: 62,651,750 (GRCm39) |
L400F |
possibly damaging |
Het |
Hgd |
T |
A |
16: 37,413,733 (GRCm39) |
L24H |
probably benign |
Het |
Hmx3 |
C |
A |
7: 131,146,057 (GRCm39) |
S255* |
probably null |
Het |
Ifrd1 |
A |
T |
12: 40,253,369 (GRCm39) |
F448I |
probably damaging |
Het |
Igfn1 |
T |
A |
1: 135,894,578 (GRCm39) |
E1996V |
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,329,104 (GRCm39) |
G173R |
probably damaging |
Het |
Kbtbd8 |
T |
C |
6: 95,095,515 (GRCm39) |
S26P |
probably benign |
Het |
Kctd17 |
A |
T |
15: 78,321,333 (GRCm39) |
|
probably benign |
Het |
Matr3 |
T |
C |
18: 35,717,575 (GRCm39) |
S258P |
possibly damaging |
Het |
Mpp4 |
G |
A |
1: 59,190,825 (GRCm39) |
A90V |
probably benign |
Het |
Mrpl20 |
G |
A |
4: 155,891,378 (GRCm39) |
R34Q |
probably damaging |
Het |
Neb |
A |
T |
2: 52,135,313 (GRCm39) |
S3266T |
probably damaging |
Het |
Nipal3 |
A |
G |
4: 135,179,650 (GRCm39) |
|
probably benign |
Het |
Npas2 |
A |
T |
1: 39,326,652 (GRCm39) |
T46S |
possibly damaging |
Het |
Nsd3 |
G |
T |
8: 26,172,685 (GRCm39) |
E815* |
probably null |
Het |
Nup98 |
C |
A |
7: 101,801,568 (GRCm39) |
V786L |
probably benign |
Het |
Or4k2 |
A |
T |
14: 50,424,203 (GRCm39) |
M157K |
possibly damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,434,520 (GRCm39) |
V162A |
probably benign |
Het |
Penk |
A |
G |
4: 4,134,318 (GRCm39) |
F110L |
probably damaging |
Het |
Relch |
T |
G |
1: 105,615,072 (GRCm39) |
N246K |
probably damaging |
Het |
Scfd1 |
A |
G |
12: 51,478,312 (GRCm39) |
N508S |
probably benign |
Het |
Scn2a |
T |
C |
2: 65,594,827 (GRCm39) |
V1892A |
probably benign |
Het |
Sema6a |
G |
A |
18: 47,381,893 (GRCm39) |
R885C |
probably damaging |
Het |
Sik2 |
T |
C |
9: 50,807,145 (GRCm39) |
H755R |
probably benign |
Het |
Slc36a3 |
A |
T |
11: 55,026,094 (GRCm39) |
Y241* |
probably null |
Het |
Smg5 |
T |
C |
3: 88,258,925 (GRCm39) |
|
probably benign |
Het |
Spag9 |
A |
G |
11: 94,005,079 (GRCm39) |
T1049A |
probably benign |
Het |
Tas2r103 |
T |
C |
6: 133,013,908 (GRCm39) |
M53V |
probably benign |
Het |
Tpr |
C |
T |
1: 150,299,292 (GRCm39) |
A1090V |
probably damaging |
Het |
Traf5 |
T |
A |
1: 191,729,633 (GRCm39) |
R473W |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,175,707 (GRCm39) |
|
probably null |
Het |
Vit |
A |
G |
17: 78,853,855 (GRCm39) |
T34A |
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 |
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 |
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'- TTTGCAGGCAGTTCGAAGTG -3'
(R):5'- TGTCTCTTCACTCTGCAGGG -3'
Sequencing Primer
(F):5'- TTCGAAGTGCCCCCATTGGTAG -3'
(R):5'- TTCACTCTGCAGGGCTCAGAC -3'
|
Posted On |
2016-12-15 |