Incidental Mutation 'R8898:Nop2'
| ID |
678171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nop2
|
| Ensembl Gene |
ENSMUSG00000038279 |
| Gene Name |
NOP2 nucleolar protein |
| Synonyms |
Nol1, 120kDa |
| MMRRC Submission |
068755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R8898 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125108872-125121716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 125114118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 195
(Q195K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044200]
[ENSMUST00000204185]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044200
AA Change: Q195K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: Q195K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,383,001 (GRCm39) |
L988* |
probably null |
Het |
| 4930546C10Rik |
A |
G |
18: 69,083,106 (GRCm39) |
F36S |
unknown |
Het |
| Acan |
C |
A |
7: 78,750,101 (GRCm39) |
T1624K |
possibly damaging |
Het |
| Ambn |
T |
C |
5: 88,613,051 (GRCm39) |
|
probably null |
Het |
| Ankrd24 |
T |
C |
10: 81,478,352 (GRCm39) |
I437T |
unknown |
Het |
| Arl4d |
C |
T |
11: 101,557,827 (GRCm39) |
R118W |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,306,721 (GRCm39) |
|
probably benign |
Het |
| Bcan |
T |
C |
3: 87,895,695 (GRCm39) |
T814A |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,492,498 (GRCm39) |
M3171K |
possibly damaging |
Het |
| Cd209a |
T |
A |
8: 3,798,739 (GRCm39) |
S23C |
probably damaging |
Het |
| Chek2 |
A |
T |
5: 111,011,175 (GRCm39) |
K324N |
probably benign |
Het |
| Col12a1 |
C |
T |
9: 79,599,577 (GRCm39) |
V859I |
probably benign |
Het |
| Cyp7b1 |
C |
T |
3: 18,150,788 (GRCm39) |
R317H |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,308,941 (GRCm39) |
S1937P |
probably benign |
Het |
| Epb41l1 |
T |
G |
2: 156,335,869 (GRCm39) |
V11G |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,858,822 (GRCm39) |
P3798L |
probably benign |
Het |
| Foxd1 |
T |
A |
13: 98,491,596 (GRCm39) |
C157S |
probably damaging |
Het |
| Gja10 |
T |
C |
4: 32,601,058 (GRCm39) |
Q442R |
probably benign |
Het |
| Gm17019 |
A |
C |
5: 15,081,798 (GRCm39) |
M47R |
possibly damaging |
Het |
| Gpr179 |
C |
A |
11: 97,242,329 (GRCm39) |
E172* |
probably null |
Het |
| Grhl1 |
G |
A |
12: 24,634,945 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
T |
5: 134,226,106 (GRCm39) |
E184V |
probably benign |
Het |
| Hace1 |
A |
G |
10: 45,576,766 (GRCm39) |
I813V |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,715,379 (GRCm39) |
L385Q |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,976,376 (GRCm39) |
T726I |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,145,206 (GRCm39) |
S916G |
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,935,175 (GRCm39) |
F396I |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,554,899 (GRCm39) |
M633T |
possibly damaging |
Het |
| Klf5 |
T |
A |
14: 99,538,922 (GRCm39) |
F112I |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,128,610 (GRCm39) |
Q2989L |
|
Het |
| Lrrc28 |
C |
A |
7: 67,278,042 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,859,931 (GRCm39) |
T739A |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,355,914 (GRCm39) |
R80* |
probably null |
Het |
| Mctp2 |
T |
C |
7: 71,752,904 (GRCm39) |
E783G |
probably damaging |
Het |
| Mill2 |
A |
T |
7: 18,590,489 (GRCm39) |
M190L |
probably benign |
Het |
| N4bp3 |
T |
C |
11: 51,535,256 (GRCm39) |
N311S |
probably benign |
Het |
| Nanos2 |
A |
T |
7: 18,721,549 (GRCm39) |
D7V |
probably damaging |
Het |
| Ndufs7 |
T |
A |
10: 80,089,619 (GRCm39) |
|
probably null |
Het |
| Nexn |
T |
C |
3: 151,948,306 (GRCm39) |
N483S |
probably benign |
Het |
| Nlrp1b |
T |
G |
11: 71,073,288 (GRCm39) |
E185A |
probably damaging |
Het |
| Or4a15 |
A |
G |
2: 89,192,957 (GRCm39) |
V272A |
possibly damaging |
Het |
| Or4n4 |
G |
A |
14: 50,518,952 (GRCm39) |
P253S |
probably damaging |
Het |
| Pde12 |
G |
A |
14: 26,390,577 (GRCm39) |
S44L |
probably benign |
Het |
| Pde1c |
A |
T |
6: 56,114,371 (GRCm39) |
V514E |
probably damaging |
Het |
| Pdzph1 |
A |
T |
17: 59,281,334 (GRCm39) |
V316D |
probably benign |
Het |
| Prl3c1 |
A |
T |
13: 27,387,578 (GRCm39) |
I208F |
possibly damaging |
Het |
| Raver2 |
G |
A |
4: 100,964,399 (GRCm39) |
|
probably null |
Het |
| Rpl13a-ps1 |
T |
A |
19: 50,018,747 (GRCm39) |
H143L |
probably benign |
Het |
| Septin14 |
A |
T |
5: 129,760,642 (GRCm39) |
I402K |
possibly damaging |
Het |
| Sla2 |
T |
A |
2: 156,717,885 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Smarca2 |
TGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCA |
19: 26,608,358 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,911,567 (GRCm39) |
S1448P |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,695,273 (GRCm39) |
R604H |
probably damaging |
Het |
| Speg |
G |
A |
1: 75,365,517 (GRCm39) |
G633S |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Syt11 |
T |
C |
3: 88,669,335 (GRCm39) |
M186V |
probably benign |
Het |
| Tex26 |
C |
A |
5: 149,380,369 (GRCm39) |
N133K |
probably benign |
Het |
| Tnfrsf17 |
T |
C |
16: 11,131,910 (GRCm39) |
C32R |
probably damaging |
Het |
| Trem1 |
T |
A |
17: 48,544,374 (GRCm39) |
V133E |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,664,661 (GRCm39) |
M906K |
possibly damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,159,189 (GRCm39) |
I461K |
possibly damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,430 (GRCm39) |
C28S |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,522,525 (GRCm39) |
|
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 |
|
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 |
|
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'- ATTGAAAGAGCTGCCCTGAAG -3'
(R):5'- ATCCGCTTGTGAACTCGCTG -3'
Sequencing Primer
(F):5'- ATGCCACAGCTGGGTGAG -3'
(R):5'- CTTGTGAACTCGCTGCAGGTC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation