Incidental Mutation 'R7590:Phc2'
| ID |
587346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phc2
|
| Ensembl Gene |
ENSMUSG00000028796 |
| Gene Name |
polyhomeotic 2 |
| Synonyms |
D4Ertd810e, Mph2, Edr2, D130050K19Rik |
| MMRRC Submission |
045669-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7590 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
128548495-128646674 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128641820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 714
(L714H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030588]
[ENSMUST00000106079]
[ENSMUST00000106080]
[ENSMUST00000120946]
[ENSMUST00000133439]
[ENSMUST00000134421]
[ENSMUST00000138445]
[ENSMUST00000143632]
[ENSMUST00000147572]
|
| AlphaFold |
Q9QWH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030588
AA Change: L714H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796
AA Change: L714H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
543 |
N/A |
INTRINSIC |
|
Pfam:PHC2_SAM_assoc
|
662 |
781 |
2.6e-55 |
PFAM |
|
SAM
|
783 |
850 |
8.53e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106079
AA Change: L187H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101689
Gene: ENSMUSG00000028796
AA Change: L187H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
PDB:2L8E|A
|
105 |
135 |
1e-6 |
PDB |
|
low complexity region
|
216 |
228 |
N/A |
INTRINSIC |
|
SAM
|
256 |
323 |
8.53e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106080
AA Change: L714H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796
AA Change: L714H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
543 |
N/A |
INTRINSIC |
|
PDB:2L8E|A
|
632 |
662 |
4e-7 |
PDB |
|
low complexity region
|
743 |
755 |
N/A |
INTRINSIC |
|
SAM
|
783 |
850 |
8.53e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120946
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133439
|
| SMART Domains |
Protein: ENSMUSP00000117163
Gene: ENSMUSG00000028796
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134421
|
| SMART Domains |
Protein: ENSMUSP00000123307
Gene: ENSMUSG00000028796
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
PDB:2L8E|A
|
105 |
135 |
6e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138445
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143632
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147572
AA Change: L187H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118298
Gene: ENSMUSG00000028796
AA Change: L187H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
PDB:2L8E|A
|
105 |
135 |
8e-7 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele have normal skulls but exhibit posterior homeotic transformations of the axial skeleton. Cultured mouse embryonic fibroblasts show defects in proliferation and premature senescence. [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 |
|---|
| Abca8b |
T |
A |
11: 109,829,341 (GRCm39) |
T1373S |
probably damaging |
Het |
| Bbox1 |
A |
T |
2: 110,098,577 (GRCm39) |
N333K |
probably benign |
Het |
| Bcl11b |
T |
A |
12: 107,969,402 (GRCm39) |
M1L |
probably benign |
Het |
| C1s2 |
T |
A |
6: 124,609,087 (GRCm39) |
I157F |
probably damaging |
Het |
| Casp1 |
T |
A |
9: 5,306,710 (GRCm39) |
M384K |
probably damaging |
Het |
| Chpt1 |
A |
G |
10: 88,316,688 (GRCm39) |
S257P |
probably damaging |
Het |
| Dennd4a |
G |
A |
9: 64,795,869 (GRCm39) |
G731D |
probably benign |
Het |
| Dlk2 |
A |
T |
17: 46,609,609 (GRCm39) |
S21C |
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,918,854 (GRCm39) |
L620P |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fip1l1 |
T |
C |
5: 74,752,435 (GRCm39) |
V414A |
probably benign |
Het |
| Fmo1 |
T |
A |
1: 162,687,251 (GRCm39) |
|
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,802,443 (GRCm39) |
N115S |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,614,611 (GRCm39) |
T319A |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,438,668 (GRCm39) |
V905A |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,803,779 (GRCm39) |
V490D |
probably benign |
Het |
| Itprid2 |
G |
T |
2: 79,488,454 (GRCm39) |
V846F |
possibly damaging |
Het |
| Lbr |
A |
G |
1: 181,649,076 (GRCm39) |
S348P |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,409,330 (GRCm39) |
D191E |
possibly damaging |
Het |
| Mlip |
A |
T |
9: 77,137,325 (GRCm39) |
D527E |
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,167,679 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nckap5 |
G |
T |
1: 125,954,270 (GRCm39) |
Q761K |
probably benign |
Het |
| Neb |
A |
T |
2: 52,133,854 (GRCm39) |
D3376E |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 15,006,693 (GRCm38) |
*1116W |
probably null |
Het |
| Or2t43 |
T |
C |
11: 58,458,085 (GRCm39) |
I29V |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,229,149 (GRCm39) |
S99P |
probably damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,386 (GRCm39) |
H95L |
probably benign |
Het |
| Pak2 |
A |
T |
16: 31,871,014 (GRCm39) |
I56K |
probably benign |
Het |
| Pgm5 |
T |
C |
19: 24,686,629 (GRCm39) |
Y526C |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,232 (GRCm39) |
D223E |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,807,525 (GRCm39) |
D171G |
probably benign |
Het |
| Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
| Rbm6 |
A |
T |
9: 107,668,949 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,495,466 (GRCm39) |
M352T |
probably damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,022,213 (GRCm39) |
V548I |
possibly damaging |
Het |
| Slc13a4 |
T |
A |
6: 35,256,398 (GRCm39) |
I321F |
possibly damaging |
Het |
| Spata9 |
T |
C |
13: 76,125,771 (GRCm39) |
S85P |
possibly damaging |
Het |
| Speer4a2 |
G |
T |
5: 26,290,764 (GRCm39) |
H136N |
possibly damaging |
Het |
| Ssb |
G |
A |
2: 69,697,634 (GRCm39) |
A122T |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,466 (GRCm39) |
L40P |
possibly damaging |
Het |
| Tex10 |
A |
C |
4: 48,467,725 (GRCm39) |
V358G |
probably damaging |
Het |
| Tmprss11c |
A |
T |
5: 86,387,332 (GRCm39) |
H195Q |
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,085,810 (GRCm39) |
V31A |
possibly damaging |
Het |
| Trim29 |
G |
A |
9: 43,222,788 (GRCm39) |
A206T |
probably damaging |
Het |
| Trim71 |
A |
C |
9: 114,391,893 (GRCm39) |
V98G |
probably benign |
Het |
| Trpm6 |
C |
G |
19: 18,809,945 (GRCm39) |
L1114V |
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,822,489 (GRCm39) |
D601G |
possibly damaging |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,194 (GRCm39) |
I767F |
probably damaging |
Het |
|
| Other mutations in Phc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00727:Phc2
|
APN |
4 |
128,639,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01470:Phc2
|
APN |
4 |
128,616,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02171:Phc2
|
APN |
4 |
128,604,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Phc2
|
APN |
4 |
128,601,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I1329:Phc2
|
UTSW |
4 |
128,604,906 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4696001:Phc2
|
UTSW |
4 |
128,598,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Phc2
|
UTSW |
4 |
128,617,100 (GRCm39) |
unclassified |
probably benign |
|
|
R0625:Phc2
|
UTSW |
4 |
128,617,503 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1392:Phc2
|
UTSW |
4 |
128,638,880 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1392:Phc2
|
UTSW |
4 |
128,638,880 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1429:Phc2
|
UTSW |
4 |
128,637,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1701:Phc2
|
UTSW |
4 |
128,645,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:Phc2
|
UTSW |
4 |
128,637,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2011:Phc2
|
UTSW |
4 |
128,617,378 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2063:Phc2
|
UTSW |
4 |
128,640,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Phc2
|
UTSW |
4 |
128,640,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2065:Phc2
|
UTSW |
4 |
128,640,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:Phc2
|
UTSW |
4 |
128,640,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2067:Phc2
|
UTSW |
4 |
128,640,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Phc2
|
UTSW |
4 |
128,638,859 (GRCm39) |
makesense |
probably null |
|
|
R2375:Phc2
|
UTSW |
4 |
128,616,818 (GRCm39) |
missense |
probably benign |
|
|
R2430:Phc2
|
UTSW |
4 |
128,601,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3910:Phc2
|
UTSW |
4 |
128,637,351 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3911:Phc2
|
UTSW |
4 |
128,637,351 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3941:Phc2
|
UTSW |
4 |
128,641,037 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4108:Phc2
|
UTSW |
4 |
128,601,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Phc2
|
UTSW |
4 |
128,637,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Phc2
|
UTSW |
4 |
128,601,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Phc2
|
UTSW |
4 |
128,645,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Phc2
|
UTSW |
4 |
128,645,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Phc2
|
UTSW |
4 |
128,616,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5498:Phc2
|
UTSW |
4 |
128,602,787 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5712:Phc2
|
UTSW |
4 |
128,638,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Phc2
|
UTSW |
4 |
128,639,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6272:Phc2
|
UTSW |
4 |
128,603,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6298:Phc2
|
UTSW |
4 |
128,641,982 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6348:Phc2
|
UTSW |
4 |
128,598,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6630:Phc2
|
UTSW |
4 |
128,617,423 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6925:Phc2
|
UTSW |
4 |
128,641,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7067:Phc2
|
UTSW |
4 |
128,640,934 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7396:Phc2
|
UTSW |
4 |
128,641,954 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7585:Phc2
|
UTSW |
4 |
128,604,932 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7723:Phc2
|
UTSW |
4 |
128,616,882 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7949:Phc2
|
UTSW |
4 |
128,603,401 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7995:Phc2
|
UTSW |
4 |
128,603,401 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8053:Phc2
|
UTSW |
4 |
128,603,433 (GRCm39) |
nonsense |
probably null |
|
|
R8078:Phc2
|
UTSW |
4 |
128,604,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Phc2
|
UTSW |
4 |
128,603,299 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8331:Phc2
|
UTSW |
4 |
128,605,987 (GRCm39) |
nonsense |
probably null |
|
|
R9058:Phc2
|
UTSW |
4 |
128,616,769 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9228:Phc2
|
UTSW |
4 |
128,617,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Phc2
|
UTSW |
4 |
128,641,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0012:Phc2
|
UTSW |
4 |
128,602,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0017:Phc2
|
UTSW |
4 |
128,617,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0023:Phc2
|
UTSW |
4 |
128,601,836 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCTAGTCCAAGTCACGTGG -3'
(R):5'- TCCCTCATGTGCATGTCAGG -3'
Sequencing Primer
(F):5'- CCACATGGAGAACAGACCTCTGTG -3'
(R):5'- CATGTGCATGTCAGGGAGATCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation