Incidental Mutation 'R0211:Nop2'
| ID |
66406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nop2
|
| Ensembl Gene |
ENSMUSG00000038279 |
| Gene Name |
NOP2 nucleolar protein |
| Synonyms |
Nol1, 120kDa |
| MMRRC Submission |
038462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R0211 (G1)
|
| Quality Score |
120 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125108872-125121716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 125118307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 529
(L529R)
|
| 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 damaging
Transcript: ENSMUST00000044200
AA Change: L529R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: L529R
| 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 |
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 |
- 1x: 96.9%
- 3x: 92.1%
- 10x: 58.4%
- 20x: 15.8%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,262,870 (GRCm39) |
L1401P |
possibly damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,607,581 (GRCm39) |
L100P |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,621,576 (GRCm39) |
T407A |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,383,460 (GRCm39) |
M242K |
probably damaging |
Het |
| Atad5 |
T |
G |
11: 79,986,473 (GRCm39) |
V520G |
probably benign |
Het |
| Cbr2 |
T |
A |
11: 120,621,614 (GRCm39) |
I88L |
probably benign |
Het |
| Ccdc51 |
T |
C |
9: 108,918,441 (GRCm39) |
M10T |
probably benign |
Het |
| Cryba1 |
T |
A |
11: 77,609,693 (GRCm39) |
Y179F |
probably damaging |
Het |
| Dcaf4 |
T |
A |
12: 83,582,735 (GRCm39) |
F277I |
probably damaging |
Het |
| Ddost |
G |
A |
4: 138,036,913 (GRCm39) |
V159M |
probably damaging |
Het |
| Dnase2a |
A |
G |
8: 85,635,417 (GRCm39) |
|
probably benign |
Het |
| Efcc1 |
A |
T |
6: 87,726,136 (GRCm39) |
T312S |
probably benign |
Het |
| Ermard |
A |
T |
17: 15,242,205 (GRCm39) |
Q127L |
probably damaging |
Het |
| Ggnbp2 |
G |
A |
11: 84,731,139 (GRCm39) |
T325M |
probably damaging |
Het |
| H2-T5 |
T |
C |
17: 36,478,899 (GRCm39) |
T117A |
probably damaging |
Het |
| Ift74 |
C |
T |
4: 94,567,492 (GRCm39) |
T395I |
probably benign |
Het |
| Irf8 |
A |
T |
8: 121,466,714 (GRCm39) |
D53V |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,803,813 (GRCm39) |
Y69C |
probably damaging |
Het |
| Lpin3 |
A |
T |
2: 160,740,601 (GRCm39) |
D382V |
probably damaging |
Het |
| Map4k3 |
C |
T |
17: 80,952,270 (GRCm39) |
A179T |
probably damaging |
Het |
| Nck1 |
A |
T |
9: 100,379,820 (GRCm39) |
W144R |
probably damaging |
Het |
| Nin |
T |
G |
12: 70,061,649 (GRCm39) |
T2072P |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,109,255 (GRCm39) |
F1454S |
probably benign |
Het |
| Or10ak7 |
T |
A |
4: 118,791,467 (GRCm39) |
M191L |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,646 (GRCm39) |
T16A |
possibly damaging |
Het |
| Or8j3c |
A |
C |
2: 86,253,451 (GRCm39) |
S190A |
probably damaging |
Het |
| Pcdhb10 |
A |
T |
18: 37,547,059 (GRCm39) |
M712L |
probably benign |
Het |
| Pcx |
C |
T |
19: 4,670,227 (GRCm39) |
A935V |
probably damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,022,106 (GRCm39) |
V514A |
possibly damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,932,731 (GRCm39) |
Y568* |
probably null |
Het |
| Rgr |
T |
G |
14: 36,768,925 (GRCm39) |
T37P |
probably damaging |
Het |
| Rpusd2 |
A |
G |
2: 118,868,893 (GRCm39) |
S439G |
probably benign |
Het |
| Slc6a21 |
A |
C |
7: 44,937,667 (GRCm39) |
T653P |
possibly damaging |
Het |
| Spdef |
C |
T |
17: 27,933,894 (GRCm39) |
R309H |
probably damaging |
Het |
| Srp68 |
A |
T |
11: 116,156,377 (GRCm39) |
Y84N |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,972,839 (GRCm39) |
M652L |
probably benign |
Het |
| Tnk1 |
A |
G |
11: 69,746,007 (GRCm39) |
V306A |
probably damaging |
Het |
| Tnnc2 |
T |
A |
2: 164,619,404 (GRCm39) |
I147F |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,293,132 (GRCm39) |
N181S |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,039,051 (GRCm39) |
S682T |
probably benign |
Het |
| Wasl |
G |
T |
6: 24,633,892 (GRCm39) |
A124E |
probably damaging |
Het |
| Zfp287 |
T |
C |
11: 62,605,743 (GRCm39) |
H388R |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,749,612 (GRCm39) |
T262A |
probably damaging |
Het |
| Zfp457 |
C |
G |
13: 67,441,211 (GRCm39) |
G359R |
probably benign |
Het |
| Zfp872 |
T |
A |
9: 22,111,469 (GRCm39) |
I316N |
probably damaging |
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 |
125,121,033 (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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2013-08-19 |
Incidental Mutation