Incidental Mutation 'R8445:Nop2'
| ID |
654444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nop2
|
| Ensembl Gene |
ENSMUSG00000038279 |
| Gene Name |
NOP2 nucleolar protein |
| Synonyms |
Nol1, 120kDa |
| MMRRC Submission |
067886-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R8445 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125108872-125121716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125111567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 100
(D100G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047123
(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: D100G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: D100G
| 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: D100G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000145333
Gene: ENSMUSG00000038279
AA Change: D100G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
109 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 |
|---|
| Adam10 |
T |
G |
9: 70,674,203 (GRCm39) |
S522A |
probably benign |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Alg12 |
C |
T |
15: 88,698,689 (GRCm39) |
R212Q |
probably benign |
Het |
| C330018D20Rik |
G |
A |
18: 57,090,962 (GRCm39) |
P67L |
probably damaging |
Het |
| Col3a1 |
C |
T |
1: 45,380,340 (GRCm39) |
R955* |
probably null |
Het |
| Cyp2j12 |
T |
A |
4: 96,021,259 (GRCm39) |
I116F |
possibly damaging |
Het |
| Cyp4a10 |
T |
A |
4: 115,382,791 (GRCm39) |
W331R |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,692,110 (GRCm39) |
Y959N |
unknown |
Het |
| Dytn |
T |
A |
1: 63,686,673 (GRCm39) |
K332N |
probably benign |
Het |
| E130308A19Rik |
T |
A |
4: 59,720,526 (GRCm39) |
V686D |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,659,600 (GRCm39) |
Y792C |
probably benign |
Het |
| Fam53c |
T |
C |
18: 34,901,368 (GRCm39) |
V95A |
probably benign |
Het |
| Fbxl4 |
C |
A |
4: 22,385,983 (GRCm39) |
Q197K |
probably benign |
Het |
| Fmod |
G |
A |
1: 133,968,736 (GRCm39) |
V259I |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,720,891 (GRCm39) |
S1050P |
probably damaging |
Het |
| Itga4 |
A |
G |
2: 79,112,125 (GRCm39) |
M347V |
probably benign |
Het |
| Kdm5d |
A |
G |
Y: 916,874 (GRCm39) |
E423G |
probably damaging |
Het |
| Klra7 |
A |
T |
6: 130,204,078 (GRCm39) |
I147N |
possibly damaging |
Het |
| Lbx1 |
T |
A |
19: 45,222,651 (GRCm39) |
K124I |
probably damaging |
Het |
| Map4k5 |
T |
A |
12: 69,897,741 (GRCm39) |
H138L |
probably damaging |
Het |
| Mc3r |
A |
G |
2: 172,091,237 (GRCm39) |
H153R |
probably damaging |
Het |
| Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
| Nfatc4 |
A |
C |
14: 56,063,875 (GRCm39) |
I121L |
possibly damaging |
Het |
| Nipa1 |
A |
T |
7: 55,629,466 (GRCm39) |
S216T |
probably benign |
Het |
| Nlrp4e |
A |
T |
7: 23,039,965 (GRCm39) |
I763L |
probably benign |
Het |
| Or2a52 |
A |
G |
6: 43,144,231 (GRCm39) |
M80V |
probably benign |
Het |
| Or8b12i |
T |
A |
9: 20,082,394 (GRCm39) |
I158L |
probably benign |
Het |
| Prelid3a |
A |
G |
18: 67,606,848 (GRCm39) |
E80G |
probably damaging |
Het |
| Prl4a1 |
T |
C |
13: 28,205,445 (GRCm39) |
S137P |
possibly damaging |
Het |
| Rbpms2 |
C |
T |
9: 65,558,303 (GRCm39) |
A113V |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,111,433 (GRCm39) |
E49G |
probably damaging |
Het |
| Shisa7 |
A |
T |
7: 4,839,352 (GRCm39) |
M124K |
probably benign |
Het |
| Shprh |
C |
T |
10: 11,057,313 (GRCm39) |
P1078S |
possibly damaging |
Het |
| Slc30a7 |
C |
T |
3: 115,800,995 (GRCm39) |
|
probably benign |
Het |
| Smarca4 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
9: 21,612,239 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
A |
C |
7: 117,736,200 (GRCm39) |
N3563K |
possibly damaging |
Het |
| Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,498,532 (GRCm39) |
|
probably benign |
Het |
| Tcp11l1 |
C |
A |
2: 104,512,278 (GRCm39) |
E451D |
probably benign |
Het |
| Tfpt |
G |
A |
7: 3,623,928 (GRCm39) |
P160S |
probably damaging |
Het |
| Thbs4 |
C |
A |
13: 92,927,349 (GRCm39) |
A47S |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,746,086 (GRCm39) |
D1482G |
probably damaging |
Het |
| Tspyl4 |
C |
T |
10: 34,173,742 (GRCm39) |
A78V |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,002,995 (GRCm39) |
N135S |
probably damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,313,335 (GRCm39) |
V477E |
probably damaging |
Het |
| Wdr89 |
T |
C |
12: 75,679,636 (GRCm39) |
D206G |
probably damaging |
Het |
| Zfp623 |
C |
A |
15: 75,819,402 (GRCm39) |
Y119* |
probably null |
Het |
| Zfp879 |
A |
G |
11: 50,724,213 (GRCm39) |
M281T |
probably damaging |
Het |
| Zfp952 |
T |
G |
17: 33,222,552 (GRCm39) |
F344V |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,379,854 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GTAAAGCCATCTCTCCAGCC -3'
(R):5'- TGGAGGAGCCTGGACAATTTG -3'
Sequencing Primer
(F):5'- CCTCAGAGACCATGCTTAGG -3'
(R):5'- GGCAGTGACACATTACCTGTAATC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation