Incidental Mutation 'IGL02851:Nop2'
ID |
361902 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nop2
|
Ensembl Gene |
ENSMUSG00000038279 |
Gene Name |
NOP2 nucleolar protein |
Synonyms |
Nol1, 120kDa |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
IGL02851
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
125108872-125121716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 125121033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 605
(G605V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044200]
[ENSMUST00000117675]
[ENSMUST00000119527]
[ENSMUST00000144364]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044200
AA Change: G605V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000047123 Gene: ENSMUSG00000038279 AA Change: G605V
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
57 |
N/A |
INTRINSIC |
low complexity region
|
97 |
109 |
N/A |
INTRINSIC |
low complexity region
|
166 |
176 |
N/A |
INTRINSIC |
Pfam:Methyltr_RsmF_N
|
268 |
359 |
2.9e-12 |
PFAM |
Pfam:Nol1_Nop2_Fmu
|
362 |
570 |
2e-86 |
PFAM |
Pfam:P120R
|
609 |
630 |
2.7e-11 |
PFAM |
Pfam:P120R
|
663 |
685 |
1.1e-12 |
PFAM |
low complexity region
|
729 |
745 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117675
|
SMART Domains |
Protein: ENSMUSP00000113088 Gene: ENSMUSG00000038271
Domain | Start | End | E-Value | Type |
coiled coil region
|
21 |
58 |
N/A |
INTRINSIC |
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
coiled coil region
|
190 |
242 |
N/A |
INTRINSIC |
low complexity region
|
362 |
375 |
N/A |
INTRINSIC |
low complexity region
|
381 |
392 |
N/A |
INTRINSIC |
PDB:1GK4|F
|
393 |
459 |
6e-7 |
PDB |
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119527
|
SMART Domains |
Protein: ENSMUSP00000113376 Gene: ENSMUSG00000038271
Domain | Start | End | E-Value | Type |
coiled coil region
|
21 |
58 |
N/A |
INTRINSIC |
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
coiled coil region
|
190 |
242 |
N/A |
INTRINSIC |
low complexity region
|
359 |
372 |
N/A |
INTRINSIC |
low complexity region
|
378 |
389 |
N/A |
INTRINSIC |
PDB:1GK4|F
|
390 |
456 |
6e-7 |
PDB |
low complexity region
|
471 |
494 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135559
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139071
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141230
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144364
|
SMART Domains |
Protein: ENSMUSP00000116701 Gene: ENSMUSG00000038271
Domain | Start | End | E-Value | Type |
coiled coil region
|
21 |
58 |
N/A |
INTRINSIC |
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
coiled coil region
|
190 |
242 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150417
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148835
|
SMART Domains |
Protein: ENSMUSP00000115080 Gene: ENSMUSG00000038271
Domain | Start | End | E-Value | Type |
Filament
|
34 |
348 |
4.99e-2 |
SMART |
low complexity region
|
356 |
379 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete prenatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt1 |
T |
C |
12: 112,623,518 (GRCm39) |
E314G |
probably damaging |
Het |
Amtn |
C |
A |
5: 88,529,481 (GRCm39) |
Q106K |
probably benign |
Het |
Birc6 |
T |
C |
17: 74,916,184 (GRCm39) |
F1700S |
probably damaging |
Het |
Brdt |
T |
C |
5: 107,525,861 (GRCm39) |
S905P |
possibly damaging |
Het |
Ccdc68 |
C |
T |
18: 70,080,236 (GRCm39) |
Q194* |
probably null |
Het |
Cdc27 |
A |
G |
11: 104,417,807 (GRCm39) |
|
probably benign |
Het |
Cdh13 |
A |
G |
8: 119,401,897 (GRCm39) |
T100A |
probably benign |
Het |
Cdsn |
A |
G |
17: 35,866,791 (GRCm39) |
H440R |
possibly damaging |
Het |
Cenpf |
C |
A |
1: 189,390,227 (GRCm39) |
D1202Y |
probably damaging |
Het |
Chat |
C |
A |
14: 32,180,570 (GRCm39) |
V21L |
probably benign |
Het |
Clca4c-ps |
T |
A |
3: 144,585,493 (GRCm39) |
|
noncoding transcript |
Het |
Cst9 |
A |
G |
2: 148,677,203 (GRCm39) |
I25V |
probably benign |
Het |
Dennd1b |
C |
A |
1: 139,096,705 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,928,570 (GRCm39) |
|
probably benign |
Het |
Dpp3 |
T |
G |
19: 4,973,159 (GRCm39) |
Q145P |
probably benign |
Het |
Elovl5 |
C |
T |
9: 77,888,784 (GRCm39) |
T217M |
probably damaging |
Het |
Etl4 |
T |
C |
2: 20,812,840 (GRCm39) |
V906A |
possibly damaging |
Het |
Gm10647 |
C |
T |
9: 66,705,543 (GRCm39) |
|
probably benign |
Het |
Grm5 |
A |
G |
7: 87,723,918 (GRCm39) |
N736S |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,814,423 (GRCm39) |
S1638P |
possibly damaging |
Het |
Hsd3b2 |
T |
G |
3: 98,623,740 (GRCm39) |
E46A |
possibly damaging |
Het |
Igkv15-103 |
A |
G |
6: 68,414,674 (GRCm39) |
T38A |
probably benign |
Het |
Itpr2 |
C |
A |
6: 146,287,477 (GRCm39) |
V450L |
probably damaging |
Het |
Kbtbd12 |
T |
C |
6: 88,595,311 (GRCm39) |
H173R |
probably benign |
Het |
Man1a |
G |
A |
10: 53,795,340 (GRCm39) |
R638W |
probably damaging |
Het |
Mterf2 |
A |
T |
10: 84,955,878 (GRCm39) |
S249T |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,234,627 (GRCm39) |
D700G |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,239,742 (GRCm39) |
H764R |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,470,747 (GRCm39) |
D1065G |
probably damaging |
Het |
Naip1 |
C |
A |
13: 100,569,770 (GRCm39) |
W288L |
probably damaging |
Het |
Naip6 |
C |
A |
13: 100,437,168 (GRCm39) |
A452S |
probably benign |
Het |
Npvf |
G |
A |
6: 50,629,670 (GRCm39) |
R107W |
probably benign |
Het |
Or10h28 |
T |
A |
17: 33,488,328 (GRCm39) |
I210K |
probably benign |
Het |
Or2h2 |
T |
C |
17: 37,397,048 (GRCm39) |
|
probably null |
Het |
Os9 |
G |
A |
10: 126,935,262 (GRCm39) |
|
probably benign |
Het |
Parp4 |
T |
C |
14: 56,886,326 (GRCm39) |
S1802P |
unknown |
Het |
Piezo2 |
G |
A |
18: 63,153,704 (GRCm39) |
S2547F |
probably benign |
Het |
Plekha7 |
G |
T |
7: 115,734,413 (GRCm39) |
A1024E |
probably damaging |
Het |
R3hdm1 |
T |
C |
1: 128,102,677 (GRCm39) |
|
probably benign |
Het |
Robo4 |
T |
C |
9: 37,324,678 (GRCm39) |
S1022P |
probably damaging |
Het |
Sc5d |
T |
C |
9: 42,166,690 (GRCm39) |
N283S |
probably benign |
Het |
Scn10a |
C |
T |
9: 119,500,674 (GRCm39) |
V202M |
probably damaging |
Het |
Slco1a8 |
C |
T |
6: 141,949,197 (GRCm39) |
G60R |
probably damaging |
Het |
Spag16 |
T |
C |
1: 70,304,067 (GRCm39) |
I366T |
possibly damaging |
Het |
Sptbn4 |
G |
A |
7: 27,126,258 (GRCm39) |
R222C |
possibly damaging |
Het |
Tlr9 |
C |
T |
9: 106,101,929 (GRCm39) |
Q407* |
probably null |
Het |
Trappc12 |
G |
A |
12: 28,741,405 (GRCm39) |
S768L |
probably damaging |
Het |
Vmn2r44 |
A |
T |
7: 8,386,050 (GRCm39) |
L63Q |
probably damaging |
Het |
Zfy2 |
C |
T |
Y: 2,106,894 (GRCm39) |
G580D |
probably benign |
Het |
Zfy2 |
T |
A |
Y: 2,117,188 (GRCm39) |
H213L |
probably benign |
Het |
|
Other mutations in Nop2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00787:Nop2
|
APN |
6 |
125,110,509 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00913:Nop2
|
APN |
6 |
125,116,784 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02568:Nop2
|
APN |
6 |
125,117,813 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02850:Nop2
|
APN |
6 |
125,121,033 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02850:Nop2
|
APN |
6 |
125,121,048 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02851:Nop2
|
APN |
6 |
125,121,048 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL03144:Nop2
|
APN |
6 |
125,114,475 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03338:Nop2
|
APN |
6 |
125,116,695 (GRCm39) |
splice site |
probably null |
|
R0211:Nop2
|
UTSW |
6 |
125,118,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R0211:Nop2
|
UTSW |
6 |
125,118,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R0486:Nop2
|
UTSW |
6 |
125,117,636 (GRCm39) |
missense |
probably null |
0.14 |
R0627:Nop2
|
UTSW |
6 |
125,116,667 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1022:Nop2
|
UTSW |
6 |
125,114,149 (GRCm39) |
missense |
probably benign |
0.02 |
R1024:Nop2
|
UTSW |
6 |
125,114,149 (GRCm39) |
missense |
probably benign |
0.02 |
R1068:Nop2
|
UTSW |
6 |
125,109,242 (GRCm39) |
missense |
probably damaging |
0.99 |
R1750:Nop2
|
UTSW |
6 |
125,114,601 (GRCm39) |
missense |
probably benign |
0.00 |
R1847:Nop2
|
UTSW |
6 |
125,114,042 (GRCm39) |
unclassified |
probably benign |
|
R1940:Nop2
|
UTSW |
6 |
125,111,597 (GRCm39) |
missense |
probably benign |
0.43 |
R1972:Nop2
|
UTSW |
6 |
125,111,602 (GRCm39) |
missense |
probably benign |
0.02 |
R2059:Nop2
|
UTSW |
6 |
125,116,823 (GRCm39) |
missense |
probably null |
0.95 |
R2100:Nop2
|
UTSW |
6 |
125,117,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R3123:Nop2
|
UTSW |
6 |
125,109,164 (GRCm39) |
utr 5 prime |
probably benign |
|
R3124:Nop2
|
UTSW |
6 |
125,109,164 (GRCm39) |
utr 5 prime |
probably benign |
|
R3160:Nop2
|
UTSW |
6 |
125,111,555 (GRCm39) |
missense |
probably benign |
0.00 |
R3162:Nop2
|
UTSW |
6 |
125,111,555 (GRCm39) |
missense |
probably benign |
0.00 |
R4521:Nop2
|
UTSW |
6 |
125,110,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R4522:Nop2
|
UTSW |
6 |
125,110,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R4523:Nop2
|
UTSW |
6 |
125,110,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R4524:Nop2
|
UTSW |
6 |
125,110,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R4571:Nop2
|
UTSW |
6 |
125,117,844 (GRCm39) |
critical splice donor site |
probably null |
|
R4695:Nop2
|
UTSW |
6 |
125,121,519 (GRCm39) |
missense |
probably benign |
0.00 |
R4747:Nop2
|
UTSW |
6 |
125,114,057 (GRCm39) |
missense |
probably benign |
|
R5010:Nop2
|
UTSW |
6 |
125,110,726 (GRCm39) |
missense |
probably benign |
0.00 |
R5385:Nop2
|
UTSW |
6 |
125,121,324 (GRCm39) |
missense |
probably benign |
|
R5455:Nop2
|
UTSW |
6 |
125,117,606 (GRCm39) |
missense |
probably benign |
0.19 |
R5567:Nop2
|
UTSW |
6 |
125,110,726 (GRCm39) |
missense |
probably benign |
0.00 |
R5914:Nop2
|
UTSW |
6 |
125,111,691 (GRCm39) |
missense |
probably benign |
0.01 |
R5993:Nop2
|
UTSW |
6 |
125,120,982 (GRCm39) |
missense |
probably benign |
0.00 |
R6031:Nop2
|
UTSW |
6 |
125,110,529 (GRCm39) |
critical splice donor site |
probably null |
|
R6031:Nop2
|
UTSW |
6 |
125,110,529 (GRCm39) |
critical splice donor site |
probably null |
|
R6065:Nop2
|
UTSW |
6 |
125,121,528 (GRCm39) |
missense |
probably benign |
|
R6352:Nop2
|
UTSW |
6 |
125,114,170 (GRCm39) |
missense |
probably benign |
|
R6436:Nop2
|
UTSW |
6 |
125,114,274 (GRCm39) |
missense |
probably benign |
0.01 |
R7393:Nop2
|
UTSW |
6 |
125,110,509 (GRCm39) |
nonsense |
probably null |
|
R7499:Nop2
|
UTSW |
6 |
125,121,171 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8029:Nop2
|
UTSW |
6 |
125,121,383 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8059:Nop2
|
UTSW |
6 |
125,117,775 (GRCm39) |
missense |
probably damaging |
0.98 |
R8445:Nop2
|
UTSW |
6 |
125,111,567 (GRCm39) |
missense |
probably benign |
0.00 |
R8898:Nop2
|
UTSW |
6 |
125,114,118 (GRCm39) |
missense |
probably benign |
0.00 |
R9087:Nop2
|
UTSW |
6 |
125,114,391 (GRCm39) |
missense |
probably benign |
|
R9200:Nop2
|
UTSW |
6 |
125,117,843 (GRCm39) |
critical splice donor site |
probably null |
|
R9587:Nop2
|
UTSW |
6 |
125,117,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R9762:Nop2
|
UTSW |
6 |
125,121,272 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-12-18 |