Incidental Mutation 'R4521:Nop2'
| ID |
334216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nop2
|
| Ensembl Gene |
ENSMUSG00000038279 |
| Gene Name |
NOP2 nucleolar protein |
| Synonyms |
Nol1, 120kDa |
| MMRRC Submission |
041764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R4521 (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: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Bora |
G |
T |
14: 99,305,984 (GRCm39) |
S451I |
probably damaging |
Het |
| Cadm3 |
A |
T |
1: 173,172,630 (GRCm39) |
|
probably null |
Het |
| Car14 |
A |
G |
3: 95,811,690 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cdc20b |
A |
G |
13: 113,217,725 (GRCm39) |
I381M |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,540,639 (GRCm39) |
V2449I |
probably benign |
Het |
| Crb2 |
T |
C |
2: 37,685,349 (GRCm39) |
|
probably benign |
Het |
| Dcaf6 |
A |
T |
1: 165,218,059 (GRCm39) |
D347E |
probably damaging |
Het |
| Dlgap2 |
G |
A |
8: 14,777,871 (GRCm39) |
R372H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,834,238 (GRCm39) |
N4118S |
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Fpr2 |
A |
C |
17: 18,113,509 (GRCm39) |
R168S |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,355,440 (GRCm39) |
I281T |
probably damaging |
Het |
| Glmp |
C |
A |
3: 88,235,346 (GRCm39) |
N259K |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,273,561 (GRCm39) |
K564E |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,870,626 (GRCm39) |
H2875R |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,452,608 (GRCm39) |
D438G |
possibly damaging |
Het |
| Lrfn2 |
T |
A |
17: 49,376,922 (GRCm39) |
M1K |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,462,825 (GRCm39) |
C612R |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,724,525 (GRCm39) |
V341A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,042,126 (GRCm39) |
C1315S |
probably benign |
Het |
| Mrgpra9 |
A |
T |
7: 46,884,938 (GRCm39) |
L243H |
probably damaging |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,447 (GRCm39) |
D100G |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,041,264 (GRCm39) |
Y801H |
probably damaging |
Het |
| Or51b6b |
C |
T |
7: 103,309,539 (GRCm39) |
R306H |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,050 (GRCm39) |
N136I |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Plpp2 |
A |
G |
10: 79,366,459 (GRCm39) |
Y118H |
probably damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,346,167 (GRCm39) |
V496A |
probably benign |
Het |
| Rbm20 |
A |
G |
19: 53,805,633 (GRCm39) |
N466S |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Skida1 |
T |
C |
2: 18,050,683 (GRCm39) |
|
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,803,197 (GRCm39) |
Y73H |
probably damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,085 (GRCm39) |
I287T |
probably damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,211,401 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
G |
A |
11: 115,707,932 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
| Wdr36 |
G |
A |
18: 32,974,201 (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 |
|
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'- CCGTGGGTGAATATGAGGAC -3'
(R):5'- ATTTGGCTTAGGGACGTCAACAG -3'
Sequencing Primer
(F):5'- GGTGAATATGAGGACTTGTACATAAC -3'
(R):5'- TTAGGGACGTCAACAGACCCTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation