Incidental Mutation 'R2100:Nop2'
| ID |
230433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nop2
|
| Ensembl Gene |
ENSMUSG00000038279 |
| Gene Name |
NOP2 nucleolar protein |
| Synonyms |
Nol1, 120kDa |
| MMRRC Submission |
040104-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R2100 (G1)
|
| Quality Score |
225 |
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
T |
17: 24,627,183 (GRCm39) |
R1295W |
probably damaging |
Het |
| Abca8b |
A |
T |
11: 109,828,608 (GRCm39) |
I1430N |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,763,202 (GRCm39) |
T577A |
probably damaging |
Het |
| Arl5b |
G |
A |
2: 15,078,006 (GRCm39) |
M101I |
probably benign |
Het |
| C1qbp |
T |
A |
11: 70,868,928 (GRCm39) |
N278I |
probably benign |
Het |
| Cdh1 |
A |
T |
8: 107,386,300 (GRCm39) |
T408S |
possibly damaging |
Het |
| Cfap54 |
T |
A |
10: 92,837,799 (GRCm39) |
I1034F |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Chil4 |
T |
C |
3: 106,121,663 (GRCm39) |
K62R |
probably benign |
Het |
| Crebl2 |
A |
G |
6: 134,828,166 (GRCm39) |
T113A |
probably benign |
Het |
| Cyp2c69 |
C |
A |
19: 39,875,130 (GRCm39) |
V8L |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,869,742 (GRCm39) |
R447G |
probably damaging |
Het |
| Efcab6 |
A |
T |
15: 83,777,168 (GRCm39) |
|
probably null |
Het |
| Emilin1 |
T |
G |
5: 31,075,241 (GRCm39) |
V494G |
probably benign |
Het |
| Enoph1 |
A |
G |
5: 100,211,645 (GRCm39) |
I181V |
probably null |
Het |
| F3 |
T |
C |
3: 121,526,082 (GRCm39) |
V215A |
possibly damaging |
Het |
| Fads2b |
T |
C |
2: 85,330,593 (GRCm39) |
N238S |
probably damaging |
Het |
| Fat3 |
G |
T |
9: 16,288,726 (GRCm39) |
H266N |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,834 (GRCm39) |
T995A |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,936,657 (GRCm39) |
T171A |
probably benign |
Het |
| Hspa4l |
T |
C |
3: 40,727,090 (GRCm39) |
V476A |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,051,748 (GRCm39) |
|
probably null |
Het |
| Kctd6 |
T |
C |
14: 8,222,239 (GRCm38) |
L27P |
possibly damaging |
Het |
| Kmt2d |
G |
T |
15: 98,744,361 (GRCm39) |
|
probably benign |
Het |
| Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
A |
G |
3: 104,418,946 (GRCm39) |
L21P |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,291,699 (GRCm39) |
Q3284* |
probably null |
Het |
| Mnt |
A |
G |
11: 74,722,177 (GRCm39) |
E8G |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,344,430 (GRCm39) |
|
probably null |
Het |
| Nid2 |
C |
T |
14: 19,828,946 (GRCm39) |
Q331* |
probably null |
Het |
| Nlrx1 |
A |
G |
9: 44,173,905 (GRCm39) |
L432P |
probably damaging |
Het |
| Nup62 |
T |
C |
7: 44,478,921 (GRCm39) |
|
probably benign |
Het |
| Oas2 |
A |
G |
5: 120,883,740 (GRCm39) |
|
probably null |
Het |
| Or5b121 |
A |
G |
19: 13,507,798 (GRCm39) |
I298V |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,761 (GRCm39) |
Y220F |
probably benign |
Het |
| Or5w10 |
T |
A |
2: 87,375,169 (GRCm39) |
T240S |
probably damaging |
Het |
| Or8k40 |
A |
T |
2: 86,584,905 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,600 (GRCm39) |
M118T |
possibly damaging |
Het |
| P3h3 |
T |
A |
6: 124,822,005 (GRCm39) |
T623S |
probably damaging |
Het |
| Pkp3 |
T |
C |
7: 140,663,205 (GRCm39) |
V350A |
probably damaging |
Het |
| Plekha3 |
T |
A |
2: 76,523,007 (GRCm39) |
I225N |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,358,128 (GRCm39) |
K4292* |
probably null |
Het |
| Rtkn |
T |
C |
6: 83,126,541 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Snx10 |
T |
C |
6: 51,565,395 (GRCm39) |
Y171H |
probably damaging |
Het |
| Stx12 |
A |
T |
4: 132,587,913 (GRCm39) |
I173N |
possibly damaging |
Het |
| Thrb |
T |
A |
14: 18,030,393 (GRCm38) |
M379K |
possibly damaging |
Het |
| Tmem132e |
T |
A |
11: 82,335,357 (GRCm39) |
V813E |
probably damaging |
Het |
| Tnfsf12 |
T |
C |
11: 69,578,175 (GRCm39) |
E134G |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpbgl |
T |
A |
7: 99,275,651 (GRCm39) |
I69F |
possibly damaging |
Het |
| Ythdc1 |
T |
A |
5: 86,964,544 (GRCm39) |
S130T |
possibly damaging |
Het |
| Zbp1 |
A |
G |
2: 173,051,037 (GRCm39) |
S278P |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,492,951 (GRCm39) |
T483A |
probably benign |
Het |
| Zfp322a |
G |
A |
13: 23,541,460 (GRCm39) |
S94L |
possibly damaging |
Het |
| Zfp646 |
T |
G |
7: 127,481,359 (GRCm39) |
Y1179D |
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 |
|
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'- CATCAGCCACTATGATGGGC -3'
(R):5'- TCTCATCCTGCCCAAGAGAC -3'
Sequencing Primer
(F):5'- ACTATGATGGGCGCCAGTTC -3'
(R):5'- GGACTTCATGAGACAGCCTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation