Incidental Mutation 'R1847:Nop2'
| ID |
207797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nop2
|
| Ensembl Gene |
ENSMUSG00000038279 |
| Gene Name |
NOP2 nucleolar protein |
| Synonyms |
Nol1, 120kDa |
| MMRRC Submission |
039872-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R1847 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125108872-125121716 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
TGATGAAGATGAAGATGA to TGATGAAGATGA
at 125114042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044200]
[ENSMUST00000204185]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044200
|
| SMART Domains |
Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
| 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: ENSMUST00000204185
|
| SMART Domains |
Protein: ENSMUSP00000145333
Gene: ENSMUSG00000038279
| 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: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.2%
|
| Validation Efficiency |
97% (68/70) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
C |
A |
16: 14,263,313 (GRCm39) |
R758S |
probably benign |
Het |
| Acnat1 |
A |
T |
4: 49,447,716 (GRCm39) |
H288Q |
possibly damaging |
Het |
| Adamts1 |
T |
C |
16: 85,599,114 (GRCm39) |
E162G |
possibly damaging |
Het |
| Akap11 |
A |
G |
14: 78,751,101 (GRCm39) |
S429P |
probably benign |
Het |
| Alg14 |
T |
C |
3: 121,155,415 (GRCm39) |
Y212H |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,357,007 (GRCm39) |
T97A |
probably damaging |
Het |
| Ccdc112 |
T |
A |
18: 46,420,821 (GRCm39) |
N310Y |
possibly damaging |
Het |
| Cenpl |
A |
T |
1: 160,913,574 (GRCm39) |
Y328F |
probably damaging |
Het |
| Cep162 |
G |
A |
9: 87,086,133 (GRCm39) |
H1064Y |
probably benign |
Het |
| Cnksr3 |
T |
A |
10: 7,104,324 (GRCm39) |
E126D |
probably benign |
Het |
| Ctsh |
T |
A |
9: 89,943,618 (GRCm39) |
M81K |
probably benign |
Het |
| D6Wsu163e |
A |
G |
6: 126,932,112 (GRCm39) |
T284A |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnaaf1 |
T |
A |
8: 120,309,616 (GRCm39) |
M196K |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,725,212 (GRCm39) |
G4314C |
probably damaging |
Het |
| Dph1 |
A |
G |
11: 75,070,557 (GRCm39) |
Y361H |
probably damaging |
Het |
| Ect2 |
C |
T |
3: 27,204,221 (GRCm39) |
M29I |
probably benign |
Het |
| Eif3h |
T |
C |
15: 51,661,066 (GRCm39) |
Y167C |
probably damaging |
Het |
| Epc2 |
C |
T |
2: 49,422,101 (GRCm39) |
R332C |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,897,282 (GRCm39) |
|
probably null |
Het |
| Gfm2 |
A |
G |
13: 97,299,442 (GRCm39) |
I386V |
probably benign |
Het |
| Gpd1l |
G |
A |
9: 114,743,399 (GRCm39) |
T167I |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,546,950 (GRCm39) |
K567* |
probably null |
Het |
| Igfn1 |
T |
G |
1: 135,897,126 (GRCm39) |
S1147R |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,874,590 (GRCm39) |
V406A |
probably benign |
Het |
| Kcna2 |
A |
G |
3: 107,012,429 (GRCm39) |
I337V |
possibly damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,209,615 (GRCm39) |
|
probably null |
Het |
| Kri1 |
G |
T |
9: 21,191,788 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
T |
A |
6: 34,110,322 (GRCm39) |
I801K |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,807,458 (GRCm39) |
N871Y |
probably damaging |
Het |
| Map3k10 |
G |
T |
7: 27,360,981 (GRCm39) |
|
probably null |
Het |
| Mrps25 |
T |
C |
6: 92,155,721 (GRCm39) |
T71A |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,390,321 (GRCm39) |
W945* |
probably null |
Het |
| Ncan |
A |
T |
8: 70,555,104 (GRCm39) |
I1021N |
probably damaging |
Het |
| Ncf4 |
C |
A |
15: 78,134,582 (GRCm39) |
S11R |
probably benign |
Het |
| Neb |
A |
C |
2: 52,086,307 (GRCm39) |
S5255R |
possibly damaging |
Het |
| Or4c102 |
G |
A |
2: 88,422,516 (GRCm39) |
A123T |
probably damaging |
Het |
| Or5ak22 |
A |
T |
2: 85,230,785 (GRCm39) |
F31I |
probably damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,065 (GRCm39) |
|
probably null |
Het |
| Pacs1 |
T |
C |
19: 5,203,742 (GRCm39) |
I328V |
probably damaging |
Het |
| Pafah2 |
GCCCC |
GCCCCC |
4: 134,152,852 (GRCm39) |
|
probably null |
Het |
| Pan2 |
A |
G |
10: 128,140,247 (GRCm39) |
H56R |
possibly damaging |
Het |
| Pigo |
G |
A |
4: 43,024,710 (GRCm39) |
R124* |
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,763,571 (GRCm39) |
D1188G |
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,603,355 (GRCm39) |
N327D |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,172,656 (GRCm39) |
C223R |
possibly damaging |
Het |
| Rad50 |
A |
G |
11: 53,592,934 (GRCm39) |
V72A |
possibly damaging |
Het |
| Rcor3 |
T |
A |
1: 191,785,133 (GRCm39) |
D445V |
possibly damaging |
Het |
| Rundc1 |
T |
A |
11: 101,324,507 (GRCm39) |
H404Q |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,779,236 (GRCm39) |
K2083E |
probably benign |
Het |
| Scd3 |
C |
A |
19: 44,224,281 (GRCm39) |
H171Q |
probably damaging |
Het |
| Scrn2 |
T |
C |
11: 96,923,021 (GRCm39) |
F155L |
probably benign |
Het |
| Serpina12 |
A |
T |
12: 103,998,769 (GRCm39) |
L323Q |
probably damaging |
Het |
| Sptlc3 |
T |
A |
2: 139,467,843 (GRCm39) |
M467K |
probably benign |
Het |
| Stard9 |
G |
T |
2: 120,528,970 (GRCm39) |
R1742S |
possibly damaging |
Het |
| Thbd |
A |
T |
2: 148,249,604 (GRCm39) |
L88* |
probably null |
Het |
| Tln2 |
G |
A |
9: 67,269,969 (GRCm39) |
Q477* |
probably null |
Het |
| Tnn |
T |
A |
1: 159,943,752 (GRCm39) |
E1020D |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,726,990 (GRCm39) |
H3Q |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmp1 |
G |
A |
11: 86,534,413 (GRCm39) |
Q165* |
probably null |
Het |
| Zfp758 |
T |
A |
17: 22,594,204 (GRCm39) |
M230K |
probably benign |
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 |
|
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 |
PCR Primer
(F):5'- CCAGCTGTTGCCTATTGAAAG -3'
(R):5'- TGGGCTCATTAAGGAAATGTGG -3'
Sequencing Primer
(F):5'- TGCCTATTGAAAGAGCTGCC -3'
(R):5'- AATGTGGCCTCGAATCCTAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation