Incidental Mutation 'R3160:Nop2'
ID |
258105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nop2
|
Ensembl Gene |
ENSMUSG00000038279 |
Gene Name |
NOP2 nucleolar protein |
Synonyms |
Nol1, 120kDa |
MMRRC Submission |
040611-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R3160 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
125108872-125121716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125111555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 96
(N96S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044200]
[ENSMUST00000056889]
[ENSMUST00000112390]
[ENSMUST00000112392]
[ENSMUST00000204185]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044200
AA Change: N96S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000047123 Gene: ENSMUSG00000038279 AA Change: N96S
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: ENSMUST00000056889
|
SMART Domains |
Protein: ENSMUSP00000060054 Gene: ENSMUSG00000063870
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
45 |
N/A |
INTRINSIC |
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
low complexity region
|
80 |
92 |
N/A |
INTRINSIC |
low complexity region
|
107 |
144 |
N/A |
INTRINSIC |
Pfam:CHDNT
|
156 |
210 |
7.7e-35 |
PFAM |
low complexity region
|
217 |
249 |
N/A |
INTRINSIC |
low complexity region
|
271 |
291 |
N/A |
INTRINSIC |
low complexity region
|
296 |
318 |
N/A |
INTRINSIC |
low complexity region
|
321 |
347 |
N/A |
INTRINSIC |
PHD
|
365 |
408 |
7.17e-15 |
SMART |
RING
|
366 |
407 |
7.46e-1 |
SMART |
low complexity region
|
424 |
443 |
N/A |
INTRINSIC |
PHD
|
444 |
487 |
4.41e-15 |
SMART |
RING
|
445 |
486 |
2.63e0 |
SMART |
CHROMO
|
492 |
572 |
8.11e-17 |
SMART |
CHROMO
|
613 |
670 |
1.98e-11 |
SMART |
low complexity region
|
675 |
694 |
N/A |
INTRINSIC |
DEXDc
|
715 |
927 |
2.73e-37 |
SMART |
low complexity region
|
1044 |
1056 |
N/A |
INTRINSIC |
HELICc
|
1073 |
1157 |
7.61e-27 |
SMART |
DUF1087
|
1282 |
1346 |
5.56e-33 |
SMART |
DUF1086
|
1359 |
1516 |
4.05e-108 |
SMART |
low complexity region
|
1526 |
1540 |
N/A |
INTRINSIC |
low complexity region
|
1560 |
1578 |
N/A |
INTRINSIC |
low complexity region
|
1590 |
1633 |
N/A |
INTRINSIC |
low complexity region
|
1635 |
1653 |
N/A |
INTRINSIC |
low complexity region
|
1661 |
1674 |
N/A |
INTRINSIC |
Pfam:CHDCT2
|
1727 |
1899 |
1.9e-98 |
PFAM |
low complexity region
|
1903 |
1915 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112390
|
SMART Domains |
Protein: ENSMUSP00000108009 Gene: ENSMUSG00000063870
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
45 |
N/A |
INTRINSIC |
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
low complexity region
|
87 |
99 |
N/A |
INTRINSIC |
low complexity region
|
114 |
151 |
N/A |
INTRINSIC |
Pfam:CHDNT
|
164 |
217 |
2e-28 |
PFAM |
low complexity region
|
224 |
256 |
N/A |
INTRINSIC |
low complexity region
|
278 |
298 |
N/A |
INTRINSIC |
low complexity region
|
303 |
325 |
N/A |
INTRINSIC |
low complexity region
|
328 |
354 |
N/A |
INTRINSIC |
PHD
|
372 |
415 |
7.17e-15 |
SMART |
RING
|
373 |
414 |
7.46e-1 |
SMART |
low complexity region
|
431 |
450 |
N/A |
INTRINSIC |
PHD
|
451 |
494 |
4.41e-15 |
SMART |
RING
|
452 |
493 |
2.63e0 |
SMART |
CHROMO
|
499 |
579 |
8.11e-17 |
SMART |
CHROMO
|
620 |
677 |
1.98e-11 |
SMART |
low complexity region
|
682 |
701 |
N/A |
INTRINSIC |
DEXDc
|
722 |
934 |
2.73e-37 |
SMART |
low complexity region
|
1051 |
1063 |
N/A |
INTRINSIC |
HELICc
|
1080 |
1164 |
7.61e-27 |
SMART |
DUF1087
|
1289 |
1353 |
5.56e-33 |
SMART |
DUF1086
|
1366 |
1523 |
4.05e-108 |
SMART |
low complexity region
|
1533 |
1547 |
N/A |
INTRINSIC |
low complexity region
|
1567 |
1585 |
N/A |
INTRINSIC |
low complexity region
|
1597 |
1640 |
N/A |
INTRINSIC |
low complexity region
|
1642 |
1660 |
N/A |
INTRINSIC |
low complexity region
|
1668 |
1681 |
N/A |
INTRINSIC |
Pfam:CHDCT2
|
1735 |
1906 |
4.3e-90 |
PFAM |
low complexity region
|
1910 |
1922 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112392
|
SMART Domains |
Protein: ENSMUSP00000108011 Gene: ENSMUSG00000063870
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
45 |
N/A |
INTRINSIC |
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
low complexity region
|
80 |
92 |
N/A |
INTRINSIC |
low complexity region
|
107 |
144 |
N/A |
INTRINSIC |
Pfam:CHDNT
|
156 |
210 |
1.1e-34 |
PFAM |
low complexity region
|
217 |
249 |
N/A |
INTRINSIC |
low complexity region
|
271 |
291 |
N/A |
INTRINSIC |
low complexity region
|
296 |
318 |
N/A |
INTRINSIC |
low complexity region
|
321 |
347 |
N/A |
INTRINSIC |
PHD
|
352 |
395 |
7.17e-15 |
SMART |
RING
|
353 |
394 |
7.46e-1 |
SMART |
low complexity region
|
411 |
430 |
N/A |
INTRINSIC |
PHD
|
431 |
474 |
4.41e-15 |
SMART |
RING
|
432 |
473 |
2.63e0 |
SMART |
CHROMO
|
479 |
559 |
8.11e-17 |
SMART |
CHROMO
|
600 |
657 |
1.98e-11 |
SMART |
low complexity region
|
662 |
681 |
N/A |
INTRINSIC |
DEXDc
|
702 |
914 |
2.73e-37 |
SMART |
low complexity region
|
1031 |
1043 |
N/A |
INTRINSIC |
HELICc
|
1060 |
1144 |
7.61e-27 |
SMART |
DUF1087
|
1269 |
1333 |
5.56e-33 |
SMART |
DUF1086
|
1346 |
1503 |
4.05e-108 |
SMART |
low complexity region
|
1513 |
1527 |
N/A |
INTRINSIC |
low complexity region
|
1547 |
1565 |
N/A |
INTRINSIC |
low complexity region
|
1577 |
1620 |
N/A |
INTRINSIC |
low complexity region
|
1622 |
1640 |
N/A |
INTRINSIC |
low complexity region
|
1648 |
1661 |
N/A |
INTRINSIC |
Pfam:CHDCT2
|
1714 |
1886 |
2.8e-98 |
PFAM |
low complexity region
|
1890 |
1902 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204185
AA Change: N96S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000145333 Gene: ENSMUSG00000038279 AA Change: N96S
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
57 |
N/A |
INTRINSIC |
low complexity region
|
97 |
109 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
Amer2 |
A |
G |
14: 60,616,000 (GRCm39) |
D65G |
probably damaging |
Het |
Btnl2 |
T |
C |
17: 34,577,039 (GRCm39) |
W65R |
probably damaging |
Het |
Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
Ccdc181 |
T |
A |
1: 164,107,865 (GRCm39) |
S183T |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,738,910 (GRCm39) |
H2311R |
probably benign |
Het |
Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
Crbn |
T |
C |
6: 106,767,827 (GRCm39) |
Q221R |
probably benign |
Het |
Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
Decr1 |
T |
A |
4: 15,930,972 (GRCm39) |
D120V |
probably damaging |
Het |
Dennd1c |
C |
T |
17: 57,373,562 (GRCm39) |
G637D |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
Dnajc13 |
G |
T |
9: 104,097,097 (GRCm39) |
N510K |
possibly damaging |
Het |
Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
Iqgap1 |
G |
A |
7: 80,402,086 (GRCm39) |
A393V |
probably benign |
Het |
Irak2 |
G |
T |
6: 113,649,721 (GRCm39) |
A119S |
probably benign |
Het |
Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
Itsn1 |
C |
A |
16: 91,649,932 (GRCm39) |
S202* |
probably null |
Het |
Mill2 |
A |
C |
7: 18,590,099 (GRCm39) |
E127A |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,292,909 (GRCm39) |
Y555H |
probably damaging |
Het |
Myo18b |
A |
C |
5: 112,840,594 (GRCm39) |
S2400A |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,573,135 (GRCm39) |
|
probably null |
Het |
Or11g24 |
T |
A |
14: 50,662,488 (GRCm39) |
C171S |
probably damaging |
Het |
Or13c7b |
T |
A |
4: 43,820,544 (GRCm39) |
K272N |
probably benign |
Het |
Or2z2 |
T |
C |
11: 58,346,053 (GRCm39) |
T241A |
probably damaging |
Het |
Or4c52 |
T |
G |
2: 89,845,365 (GRCm39) |
Y30* |
probably null |
Het |
Pde5a |
T |
A |
3: 122,575,277 (GRCm39) |
L356* |
probably null |
Het |
Prss59 |
A |
G |
6: 40,903,003 (GRCm39) |
M123T |
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,756,371 (GRCm39) |
N1075K |
probably damaging |
Het |
Rps2 |
G |
T |
17: 24,939,952 (GRCm39) |
A129S |
probably benign |
Het |
Serinc2 |
A |
G |
4: 130,154,528 (GRCm39) |
S175P |
probably benign |
Het |
Socs5 |
A |
T |
17: 87,442,146 (GRCm39) |
Q362L |
probably damaging |
Het |
Srbd1 |
A |
T |
17: 86,437,643 (GRCm39) |
D233E |
probably benign |
Het |
Srgap3 |
A |
G |
6: 112,706,619 (GRCm39) |
V826A |
probably benign |
Het |
Tns2 |
A |
G |
15: 102,021,771 (GRCm39) |
E1118G |
possibly damaging |
Het |
Topaz1 |
T |
C |
9: 122,578,446 (GRCm39) |
I452T |
probably benign |
Het |
Tuba8 |
A |
G |
6: 121,199,697 (GRCm39) |
D127G |
possibly damaging |
Het |
Tulp4 |
A |
G |
17: 6,248,983 (GRCm39) |
M1V |
probably null |
Het |
Urb1 |
A |
G |
16: 90,594,791 (GRCm39) |
L247P |
probably damaging |
Het |
Usp32 |
A |
G |
11: 84,916,362 (GRCm39) |
W861R |
probably damaging |
Het |
Vmn1r48 |
G |
A |
6: 90,013,360 (GRCm39) |
T155I |
probably benign |
Het |
Vmn2r117 |
A |
G |
17: 23,679,352 (GRCm39) |
L624P |
probably damaging |
Het |
Vstm5 |
T |
G |
9: 15,168,594 (GRCm39) |
S53A |
probably benign |
Het |
Yeats2 |
T |
C |
16: 20,012,395 (GRCm39) |
V531A |
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 |
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 |
|
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 |
PCR Primer
(F):5'- CTGAATCGACTGAGAGTTGGAG -3'
(R):5'- AGATCTACTTGAGAATACCCAGAAG -3'
Sequencing Primer
(F):5'- CGACTGAGAGTTGGAGATATAGGTAC -3'
(R):5'- AGAAGAGACTCACCTTTTCCTC -3'
|
Posted On |
2015-01-23 |