Incidental Mutation 'R4523:Nop2'
ID |
334304 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nop2
|
Ensembl Gene |
ENSMUSG00000038279 |
Gene Name |
NOP2 nucleolar protein |
Synonyms |
Nol1, 120kDa |
MMRRC Submission |
042004-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R4523 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
125108872-125121716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 125110515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 47
(R47L)
|
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 damaging
Transcript: ENSMUST00000044200
AA Change: R47L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000047123 Gene: ENSMUSG00000038279 AA Change: R47L
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 damaging
Transcript: ENSMUST00000204185
AA Change: R47L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145333 Gene: ENSMUSG00000038279 AA Change: R47L
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 |
0.1253 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (61/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp8a1 |
G |
T |
5: 67,824,943 (GRCm39) |
T796K |
probably benign |
Het |
Atr |
T |
C |
9: 95,744,916 (GRCm39) |
S78P |
probably damaging |
Het |
Calb2 |
C |
T |
8: 110,875,141 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
Cdca7 |
A |
G |
2: 72,310,042 (GRCm39) |
S77G |
probably damaging |
Het |
Cfap47 |
A |
T |
X: 78,553,601 (GRCm39) |
N291K |
possibly damaging |
Het |
Cnot2 |
C |
T |
10: 116,417,379 (GRCm39) |
|
probably benign |
Het |
Cstf2t |
T |
A |
19: 31,060,482 (GRCm39) |
V6D |
possibly damaging |
Het |
Cybc1 |
A |
G |
11: 121,114,934 (GRCm39) |
|
probably benign |
Het |
Dido1 |
T |
C |
2: 180,314,085 (GRCm39) |
I852V |
probably damaging |
Het |
Dmgdh |
C |
T |
13: 93,825,138 (GRCm39) |
Q154* |
probably null |
Het |
Dnah12 |
T |
C |
14: 26,491,979 (GRCm39) |
F1138S |
probably damaging |
Het |
Dnah12 |
G |
A |
14: 26,598,915 (GRCm39) |
A998T |
possibly damaging |
Het |
Dusp5 |
T |
G |
19: 53,526,032 (GRCm39) |
Y225D |
probably damaging |
Het |
Fam193a |
G |
A |
5: 34,600,715 (GRCm39) |
D601N |
probably benign |
Het |
Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
Fmo2 |
T |
C |
1: 162,715,277 (GRCm39) |
K115R |
probably benign |
Het |
Gak |
G |
T |
5: 108,724,432 (GRCm39) |
Q1093K |
probably benign |
Het |
Gm5277 |
G |
T |
3: 78,799,493 (GRCm39) |
|
noncoding transcript |
Het |
Hgsnat |
A |
G |
8: 26,458,389 (GRCm39) |
|
probably null |
Het |
Hycc1 |
T |
C |
5: 24,170,120 (GRCm39) |
T410A |
probably benign |
Het |
Irag1 |
T |
C |
7: 110,523,048 (GRCm39) |
M338V |
probably benign |
Het |
Map3k3 |
G |
A |
11: 106,039,694 (GRCm39) |
R278H |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,555,154 (GRCm39) |
|
probably benign |
Het |
Nectin3 |
C |
A |
16: 46,268,953 (GRCm39) |
R483L |
probably benign |
Het |
Ntng1 |
A |
G |
3: 109,842,312 (GRCm39) |
S154P |
probably damaging |
Het |
Olfml2b |
T |
C |
1: 170,496,791 (GRCm39) |
I474T |
probably benign |
Het |
Optc |
G |
T |
1: 133,831,492 (GRCm39) |
T138K |
possibly damaging |
Het |
Or7g25 |
T |
C |
9: 19,160,525 (GRCm39) |
T57A |
probably damaging |
Het |
Or8k22 |
C |
G |
2: 86,163,644 (GRCm39) |
D19H |
probably benign |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Pard3 |
C |
T |
8: 128,125,108 (GRCm39) |
P421S |
probably benign |
Het |
Pcdhb22 |
G |
T |
18: 37,653,474 (GRCm39) |
E647D |
probably benign |
Het |
Pclo |
A |
G |
5: 14,730,006 (GRCm39) |
|
probably benign |
Het |
Prkce |
G |
T |
17: 86,798,178 (GRCm39) |
|
probably null |
Het |
Prr12 |
T |
C |
7: 44,697,947 (GRCm39) |
D656G |
unknown |
Het |
Ptprk |
A |
T |
10: 28,342,048 (GRCm39) |
D485V |
probably damaging |
Het |
Ptprn2 |
T |
C |
12: 116,839,620 (GRCm39) |
L381P |
probably damaging |
Het |
Rnf144b |
T |
C |
13: 47,361,013 (GRCm39) |
I51T |
probably benign |
Het |
Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
Sh3glb2 |
A |
T |
2: 30,240,711 (GRCm39) |
V118E |
probably damaging |
Het |
Sipa1l2 |
C |
T |
8: 126,219,163 (GRCm39) |
G58D |
probably damaging |
Het |
Slc5a4a |
C |
T |
10: 75,984,196 (GRCm39) |
A46V |
probably damaging |
Het |
Spmip8 |
T |
A |
8: 96,039,638 (GRCm39) |
Y18* |
probably null |
Het |
Tgm7 |
C |
A |
2: 120,929,069 (GRCm39) |
|
probably null |
Het |
Tjap1 |
A |
G |
17: 46,569,718 (GRCm39) |
V424A |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,773,864 (GRCm39) |
I414F |
probably damaging |
Het |
Tsr3 |
C |
G |
17: 25,460,723 (GRCm39) |
D196E |
probably benign |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
Vmn2r97 |
T |
A |
17: 19,149,333 (GRCm39) |
N240K |
probably benign |
Het |
Xdh |
C |
A |
17: 74,205,339 (GRCm39) |
G1042V |
probably damaging |
Het |
Zcchc4 |
A |
G |
5: 52,941,409 (GRCm39) |
D68G |
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 |
|
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 |
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'- CCGTGGGTGAATATGAGGAC -3'
(R):5'- TTGGCTTAGGGACGTCAACAG -3'
Sequencing Primer
(F):5'- GGTGAATATGAGGACTTGTACATAAC -3'
(R):5'- TTAGGGACGTCAACAGACCCTG -3'
|
Posted On |
2015-08-18 |