Incidental Mutation 'IGL02850:Nop2'
| ID |
361854 |
| 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 # |
IGL02850
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,843,993 (GRCm39) |
Y229C |
probably damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,192,119 (GRCm39) |
D63G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,960 (GRCm39) |
T415A |
probably benign |
Het |
| Antxr2 |
A |
G |
5: 98,151,937 (GRCm39) |
V178A |
probably damaging |
Het |
| Ap1s1 |
A |
G |
5: 137,070,634 (GRCm39) |
Y127H |
possibly damaging |
Het |
| Bbs2 |
A |
T |
8: 94,803,710 (GRCm39) |
M510K |
probably benign |
Het |
| Cbfa2t2 |
A |
G |
2: 154,377,090 (GRCm39) |
N591S |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,861,536 (GRCm39) |
R504* |
probably null |
Het |
| Cnpy3 |
A |
G |
17: 47,054,217 (GRCm39) |
|
probably benign |
Het |
| Cntn2 |
T |
G |
1: 132,446,114 (GRCm39) |
K824T |
probably benign |
Het |
| Cntnap3 |
T |
C |
13: 64,905,223 (GRCm39) |
T853A |
probably damaging |
Het |
| Cog4 |
G |
A |
8: 111,593,221 (GRCm39) |
G444D |
possibly damaging |
Het |
| Col18a1 |
A |
T |
10: 76,932,300 (GRCm39) |
I510N |
probably damaging |
Het |
| Cxcr5 |
G |
A |
9: 44,425,403 (GRCm39) |
R85W |
probably damaging |
Het |
| Cyth3 |
C |
A |
5: 143,672,259 (GRCm39) |
T58K |
probably damaging |
Het |
| Dio3 |
T |
C |
12: 110,245,970 (GRCm39) |
V102A |
probably damaging |
Het |
| Dmbx1 |
G |
A |
4: 115,775,204 (GRCm39) |
R359C |
probably damaging |
Het |
| Fam3d |
C |
T |
14: 8,361,475 (GRCm38) |
|
probably null |
Het |
| Fras1 |
C |
A |
5: 96,926,034 (GRCm39) |
P3746Q |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,721,409 (GRCm39) |
M32K |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,229,460 (GRCm39) |
N31S |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,959,761 (GRCm39) |
S123P |
probably benign |
Het |
| Izumo2 |
T |
C |
7: 44,358,339 (GRCm39) |
L58S |
probably damaging |
Het |
| Izumo4 |
A |
G |
10: 80,540,032 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,618,029 (GRCm39) |
K487* |
probably null |
Het |
| Lrp12 |
T |
C |
15: 39,741,971 (GRCm39) |
Y248C |
probably damaging |
Het |
| Maco1 |
T |
C |
4: 134,555,697 (GRCm39) |
K259E |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,490,801 (GRCm39) |
D210G |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,890,740 (GRCm39) |
D1038G |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,442,338 (GRCm39) |
T651A |
probably benign |
Het |
| Npvf |
G |
A |
6: 50,629,670 (GRCm39) |
R107W |
probably benign |
Het |
| Or10ad1b |
A |
G |
15: 98,125,232 (GRCm39) |
V98A |
probably benign |
Het |
| Or2h2c |
T |
C |
17: 37,422,865 (GRCm39) |
N3S |
probably benign |
Het |
| Oxr1 |
A |
G |
15: 41,718,329 (GRCm39) |
T775A |
probably damaging |
Het |
| P2ry13 |
C |
T |
3: 59,117,029 (GRCm39) |
A250T |
probably damaging |
Het |
| Pcsk9 |
A |
T |
4: 106,316,062 (GRCm39) |
V127E |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,153,704 (GRCm39) |
S2547F |
probably benign |
Het |
| Pinx1 |
A |
G |
14: 64,156,609 (GRCm39) |
T179A |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,488,795 (GRCm39) |
V322A |
possibly damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,332,413 (GRCm39) |
R476S |
probably benign |
Het |
| Polb |
A |
G |
8: 23,138,277 (GRCm39) |
|
probably benign |
Het |
| Polg2 |
C |
T |
11: 106,659,293 (GRCm39) |
D407N |
probably damaging |
Het |
| Pou5f2 |
G |
A |
13: 78,173,178 (GRCm39) |
R40Q |
probably benign |
Het |
| Sctr |
T |
C |
1: 119,972,393 (GRCm39) |
M193T |
possibly damaging |
Het |
| Sctr |
T |
A |
1: 119,949,909 (GRCm39) |
C33S |
probably damaging |
Het |
| Sema5b |
T |
C |
16: 35,480,885 (GRCm39) |
S819P |
probably benign |
Het |
| Setd1b |
C |
T |
5: 123,286,652 (GRCm39) |
T566I |
unknown |
Het |
| Sptbn4 |
G |
A |
7: 27,126,258 (GRCm39) |
R222C |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,730,197 (GRCm39) |
V129A |
possibly damaging |
Het |
| Tmem163 |
C |
T |
1: 127,427,984 (GRCm39) |
V201I |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,544,310 (GRCm39) |
L569P |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,372,515 (GRCm39) |
E301G |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,914,823 (GRCm39) |
I1660V |
probably benign |
Het |
| Zbtb22 |
T |
A |
17: 34,135,987 (GRCm39) |
L44Q |
probably damaging |
Het |
| Zfp691 |
T |
C |
4: 119,027,389 (GRCm39) |
D281G |
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 |
125,121,048 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02851:Nop2
|
APN |
6 |
125,121,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
Incidental Mutation