Incidental Mutation 'R9587:Nop2'
| ID |
722830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nop2
|
| Ensembl Gene |
ENSMUSG00000038279 |
| Gene Name |
NOP2 nucleolar protein |
| Synonyms |
Nol1, 120kDa |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R9587 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125108872-125121716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125117785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 445
(D445E)
|
| 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 damaging
Transcript: ENSMUST00000044200
AA Change: D445E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: D445E
| 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: 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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
A |
5: 4,119,149 (GRCm39) |
L3552Q |
probably damaging |
Het |
| Atat1 |
T |
C |
17: 36,209,182 (GRCm39) |
E353G |
probably benign |
Het |
| Banf2 |
A |
G |
2: 143,907,452 (GRCm39) |
K42R |
probably damaging |
Het |
| Cabp7 |
T |
A |
11: 4,688,865 (GRCm39) |
M202L |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,207,233 (GRCm39) |
E204G |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,770,500 (GRCm39) |
V498A |
probably benign |
Het |
| Cfap161 |
A |
G |
7: 83,440,878 (GRCm39) |
F150L |
probably damaging |
Het |
| Cyb5r1 |
G |
A |
1: 134,335,387 (GRCm39) |
G141R |
probably damaging |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
T |
C |
11: 65,999,217 (GRCm39) |
Q974R |
probably null |
Het |
| Eps8l3 |
G |
A |
3: 107,798,683 (GRCm39) |
R523Q |
probably benign |
Het |
| Ext1 |
T |
C |
15: 52,955,808 (GRCm39) |
I430V |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,481,717 (GRCm39) |
K202R |
probably damaging |
Het |
| Gm11567 |
T |
C |
11: 99,770,136 (GRCm39) |
W25R |
unknown |
Het |
| Gpr3 |
G |
A |
4: 132,937,988 (GRCm39) |
A228V |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,277,420 (GRCm39) |
D426G |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,174,453 (GRCm39) |
I205F |
probably damaging |
Het |
| Krt33a |
T |
C |
11: 99,906,733 (GRCm39) |
N81D |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,847,277 (GRCm39) |
S505P |
possibly damaging |
Het |
| Matr3 |
A |
G |
18: 35,717,876 (GRCm39) |
D696G |
probably null |
Het |
| Mov10 |
C |
T |
3: 104,711,899 (GRCm39) |
G158S |
probably benign |
Het |
| Myh1 |
T |
A |
11: 67,102,196 (GRCm39) |
M829K |
probably benign |
Het |
| Ncam2 |
T |
C |
16: 81,262,501 (GRCm39) |
V318A |
probably benign |
Het |
| Ndufv3 |
A |
G |
17: 31,747,106 (GRCm39) |
E332G |
probably benign |
Het |
| Ngdn |
C |
T |
14: 55,254,578 (GRCm39) |
T43M |
probably benign |
Het |
| Or2y17 |
C |
T |
11: 49,232,007 (GRCm39) |
S216F |
probably benign |
Het |
| Or3a10 |
G |
A |
11: 73,935,360 (GRCm39) |
H247Y |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,584,184 (GRCm39) |
M51K |
possibly damaging |
Het |
| Or8u8 |
A |
T |
2: 86,011,564 (GRCm39) |
V297E |
probably damaging |
Het |
| Prl2b1 |
G |
A |
13: 27,567,601 (GRCm39) |
A181V |
probably benign |
Het |
| Ptprg |
T |
A |
14: 12,215,992 (GRCm38) |
L1147Q |
probably damaging |
Het |
| Rubcn |
T |
C |
16: 32,663,679 (GRCm39) |
D319G |
probably damaging |
Het |
| Sfswap |
G |
A |
5: 129,618,427 (GRCm39) |
D454N |
probably benign |
Het |
| Slc38a6 |
G |
T |
12: 73,388,513 (GRCm39) |
K242N |
probably benign |
Het |
| Tmigd3 |
A |
G |
3: 105,824,088 (GRCm39) |
D19G |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,308,722 (GRCm39) |
E380G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,624,976 (GRCm39) |
I15201F |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,239,322 (GRCm39) |
S414P |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,936 (GRCm39) |
K306N |
possibly damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,769,230 (GRCm39) |
Y2232* |
probably null |
Het |
| Wdr53 |
A |
G |
16: 32,075,830 (GRCm39) |
D345G |
probably damaging |
Het |
| Zfp26 |
G |
A |
9: 20,348,213 (GRCm39) |
R784C |
probably damaging |
Het |
| Zfp58 |
A |
T |
13: 67,639,823 (GRCm39) |
C223S |
probably damaging |
Het |
| Zfp618 |
A |
G |
4: 63,051,916 (GRCm39) |
H899R |
|
Het |
| Zfp963 |
A |
G |
8: 70,195,692 (GRCm39) |
Y254H |
probably benign |
Het |
| Zfp994 |
T |
C |
17: 22,421,764 (GRCm39) |
D17G |
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 |
|
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 |
|
|
R9762:Nop2
|
UTSW |
6 |
125,121,272 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATCAGCCACTATGATGGGC -3'
(R):5'- TTCTCATCCTGCCCAAGAGAC -3'
Sequencing Primer
(F):5'- ACTATGATGGGCGCCAGTTC -3'
(R):5'- GGACTTCATGAGACAGCCTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation