Incidental Mutation 'R5993:Nop2'
| ID |
480947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nop2
|
| Ensembl Gene |
ENSMUSG00000038279 |
| Gene Name |
NOP2 nucleolar protein |
| Synonyms |
Nol1, 120kDa |
| MMRRC Submission |
044172-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R5993 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125108872-125121716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 125120982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 588
(T588I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044200]
[ENSMUST00000117675]
[ENSMUST00000119527]
[ENSMUST00000144364]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044200
AA Change: T588I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: T588I
| 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: ENSMUST00000117675
|
| SMART Domains |
Protein: ENSMUSP00000113088
Gene: ENSMUSG00000038271
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
21 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
392 |
N/A |
INTRINSIC |
|
PDB:1GK4|F
|
393 |
459 |
6e-7 |
PDB |
|
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119527
|
| SMART Domains |
Protein: ENSMUSP00000113376
Gene: ENSMUSG00000038271
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
21 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
389 |
N/A |
INTRINSIC |
|
PDB:1GK4|F
|
390 |
456 |
6e-7 |
PDB |
|
low complexity region
|
471 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141230
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144364
|
| SMART Domains |
Protein: ENSMUSP00000116701
Gene: ENSMUSG00000038271
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
21 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150417
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148835
|
| SMART Domains |
Protein: ENSMUSP00000115080
Gene: ENSMUSG00000038271
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
34 |
348 |
4.99e-2 |
SMART |
|
low complexity region
|
356 |
379 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,236,604 (GRCm39) |
N805K |
probably damaging |
Het |
| Add1 |
A |
C |
5: 34,758,877 (GRCm39) |
S64R |
probably damaging |
Het |
| Alas1 |
A |
G |
9: 106,111,328 (GRCm39) |
F613L |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,487,531 (GRCm39) |
|
probably benign |
Het |
| Anks3 |
C |
T |
16: 4,776,001 (GRCm39) |
G67D |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,407,269 (GRCm39) |
T2052I |
probably benign |
Het |
| Atp8b4 |
C |
T |
2: 126,245,154 (GRCm39) |
V332I |
probably benign |
Het |
| Bin2 |
CGGAGCTGA |
C |
15: 100,542,901 (GRCm39) |
|
probably null |
Het |
| Bpifb3 |
T |
A |
2: 153,771,234 (GRCm39) |
M382K |
probably benign |
Het |
| Ccdc149 |
C |
T |
5: 52,560,117 (GRCm39) |
R246Q |
probably damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,785,550 (GRCm39) |
K462E |
possibly damaging |
Het |
| Cux1 |
T |
C |
5: 136,392,125 (GRCm39) |
T9A |
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 44,000,799 (GRCm39) |
Y362H |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,998,412 (GRCm39) |
I998T |
probably damaging |
Het |
| Dclre1a |
A |
C |
19: 56,531,169 (GRCm39) |
Y726D |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,299,372 (GRCm39) |
V1578A |
probably benign |
Het |
| Dppa4 |
C |
T |
16: 48,109,709 (GRCm39) |
R110* |
probably null |
Het |
| Drc7 |
T |
A |
8: 95,800,820 (GRCm39) |
V614E |
probably benign |
Het |
| Garin2 |
C |
A |
12: 78,762,210 (GRCm39) |
N12K |
probably damaging |
Het |
| Gcc1 |
G |
A |
6: 28,424,851 (GRCm39) |
|
probably null |
Het |
| Greb1l |
G |
A |
18: 10,544,455 (GRCm39) |
D1350N |
probably benign |
Het |
| Kcnc1 |
G |
A |
7: 46,076,956 (GRCm39) |
V253M |
probably damaging |
Het |
| Krt78 |
T |
A |
15: 101,858,884 (GRCm39) |
I323F |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,978,324 (GRCm39) |
V320A |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,454,161 (GRCm39) |
F112Y |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,310,138 (GRCm39) |
T800A |
probably damaging |
Het |
| Mroh1 |
C |
A |
15: 76,330,880 (GRCm39) |
A1197E |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,526,220 (GRCm39) |
H39Q |
probably benign |
Het |
| Oxld1 |
A |
G |
11: 120,347,835 (GRCm39) |
S121P |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,855,273 (GRCm39) |
K444E |
possibly damaging |
Het |
| Prox1 |
T |
A |
1: 189,894,436 (GRCm39) |
D3V |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,876,296 (GRCm39) |
T1052A |
probably benign |
Het |
| Rhot2 |
T |
A |
17: 26,060,085 (GRCm39) |
T299S |
probably benign |
Het |
| Rhov |
A |
G |
2: 119,100,533 (GRCm39) |
F235L |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,841,863 (GRCm39) |
R158S |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,875,490 (GRCm39) |
E431D |
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,274,307 (GRCm39) |
E186G |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,466,572 (GRCm39) |
L158H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,280,946 (GRCm39) |
T40A |
probably benign |
Het |
| Shroom3 |
A |
T |
5: 93,088,047 (GRCm39) |
S185C |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,666,276 (GRCm39) |
V1183D |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,739,732 (GRCm39) |
V3405A |
probably benign |
Het |
| Supt16 |
C |
A |
14: 52,415,791 (GRCm39) |
R357L |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,069,253 (GRCm39) |
|
probably null |
Het |
| Topaz1 |
T |
C |
9: 122,578,104 (GRCm39) |
L338S |
probably benign |
Het |
| Ttll3 |
T |
A |
6: 113,374,992 (GRCm39) |
Y139* |
probably null |
Het |
| Ttn |
T |
G |
2: 76,626,251 (GRCm39) |
D6641A |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,743,163 (GRCm39) |
D886G |
probably benign |
Het |
| Zc3h7a |
T |
A |
16: 10,968,526 (GRCm39) |
K484N |
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 |
|
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 |
|
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'- TATCCTAAGGTGTGGGCCTTCG -3'
(R):5'- AGGTTCAGTGGACAAGCCTG -3'
Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- ACAAGCCTGGCCCTTTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation