Incidental Mutation 'R0576:Nrde2'
ID |
56239 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrde2
|
Ensembl Gene |
ENSMUSG00000021179 |
Gene Name |
nrde-2 necessary for RNA interference, domain containing |
Synonyms |
BC002230, 6720454P05Rik |
MMRRC Submission |
038766-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0576 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
100091711-100125912 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100098492 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 725
(V725A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021596]
|
AlphaFold |
Q80XC6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021596
AA Change: V725A
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021596 Gene: ENSMUSG00000021179 AA Change: V725A
Domain | Start | End | E-Value | Type |
low complexity region
|
85 |
107 |
N/A |
INTRINSIC |
low complexity region
|
146 |
154 |
N/A |
INTRINSIC |
Pfam:NRDE-2
|
318 |
658 |
1.2e-107 |
PFAM |
Blast:HAT
|
765 |
800 |
2e-10 |
BLAST |
Blast:HAT
|
802 |
841 |
3e-16 |
BLAST |
Blast:HAT
|
986 |
1018 |
3e-10 |
BLAST |
Blast:HAT
|
1075 |
1109 |
1e-14 |
BLAST |
Blast:HAT
|
1111 |
1143 |
8e-15 |
BLAST |
low complexity region
|
1154 |
1171 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223314
|
Meta Mutation Damage Score |
0.3711 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
Validation Efficiency |
92% (47/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc77 |
T |
A |
6: 120,308,809 (GRCm39) |
L335F |
probably benign |
Het |
Ccr3 |
T |
A |
9: 123,829,046 (GRCm39) |
F127Y |
probably damaging |
Het |
Cfap43 |
T |
C |
19: 47,785,579 (GRCm39) |
N437S |
probably benign |
Het |
Cfh |
A |
G |
1: 140,064,553 (GRCm39) |
V365A |
probably damaging |
Het |
Copg1 |
T |
A |
6: 87,874,945 (GRCm39) |
V380D |
probably damaging |
Het |
Cxxc1 |
T |
C |
18: 74,353,256 (GRCm39) |
I497T |
possibly damaging |
Het |
Disp3 |
G |
A |
4: 148,326,047 (GRCm39) |
T1237I |
possibly damaging |
Het |
Dnaaf9 |
A |
T |
2: 130,555,390 (GRCm39) |
F839L |
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,675,246 (GRCm39) |
F360L |
probably benign |
Het |
Dnhd1 |
C |
T |
7: 105,363,252 (GRCm39) |
A3938V |
probably damaging |
Het |
Eif4g1 |
A |
G |
16: 20,502,818 (GRCm39) |
D1000G |
probably damaging |
Het |
Emsy |
A |
T |
7: 98,242,983 (GRCm39) |
V1052D |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,858,959 (GRCm39) |
|
probably benign |
Het |
Fa2h |
T |
C |
8: 112,082,779 (GRCm39) |
H146R |
probably damaging |
Het |
Gad1 |
G |
A |
2: 70,424,996 (GRCm39) |
C430Y |
probably benign |
Het |
Gtse1 |
T |
C |
15: 85,753,252 (GRCm39) |
S456P |
probably damaging |
Het |
Gucy2g |
T |
C |
19: 55,187,202 (GRCm39) |
T1073A |
probably damaging |
Het |
Hectd2 |
T |
G |
19: 36,562,897 (GRCm39) |
N3K |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,525,768 (GRCm39) |
C3318* |
probably null |
Het |
Lipo2 |
C |
T |
19: 33,726,824 (GRCm39) |
S71N |
probably benign |
Het |
Mynn |
G |
T |
3: 30,661,217 (GRCm39) |
D100Y |
probably damaging |
Het |
Myo16 |
G |
A |
8: 10,612,318 (GRCm39) |
|
probably null |
Het |
Npr2 |
G |
T |
4: 43,640,947 (GRCm39) |
K384N |
probably benign |
Het |
Or11h23 |
T |
A |
14: 50,948,661 (GRCm39) |
S291R |
probably damaging |
Het |
Or2l13 |
A |
G |
16: 19,305,938 (GRCm39) |
M117V |
probably damaging |
Het |
Otud7a |
C |
T |
7: 63,335,266 (GRCm39) |
P101S |
possibly damaging |
Het |
Pcdhb7 |
T |
A |
18: 37,475,410 (GRCm39) |
L182Q |
probably benign |
Het |
Pdss1 |
A |
G |
2: 22,805,425 (GRCm39) |
|
probably null |
Het |
Ppargc1b |
T |
A |
18: 61,444,512 (GRCm39) |
H233L |
probably damaging |
Het |
Ppm1b |
A |
G |
17: 85,320,987 (GRCm39) |
|
probably null |
Het |
Prdm14 |
A |
T |
1: 13,195,949 (GRCm39) |
S37R |
possibly damaging |
Het |
Prss45 |
A |
G |
9: 110,667,497 (GRCm39) |
T39A |
probably benign |
Het |
Qars1 |
T |
C |
9: 108,392,161 (GRCm39) |
|
probably benign |
Het |
Rxfp2 |
T |
G |
5: 149,961,712 (GRCm39) |
H77Q |
probably benign |
Het |
Scd4 |
A |
G |
19: 44,329,685 (GRCm39) |
M219V |
probably benign |
Het |
Sec24b |
G |
T |
3: 129,834,985 (GRCm39) |
P71Q |
probably benign |
Het |
Snd1 |
T |
G |
6: 28,886,576 (GRCm39) |
V861G |
probably benign |
Het |
Sspo |
A |
G |
6: 48,441,876 (GRCm39) |
|
probably null |
Het |
Tas2r129 |
A |
G |
6: 132,928,497 (GRCm39) |
T145A |
probably benign |
Het |
Tbc1d31 |
T |
A |
15: 57,833,120 (GRCm39) |
I953N |
possibly damaging |
Het |
Tlr4 |
A |
G |
4: 66,757,732 (GRCm39) |
N175S |
probably benign |
Het |
Tspyl4 |
A |
G |
10: 34,174,518 (GRCm39) |
N337D |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,642,545 (GRCm39) |
L13330H |
probably damaging |
Het |
Usp33 |
T |
A |
3: 152,089,756 (GRCm39) |
Y765* |
probably null |
Het |
Vmn2r59 |
T |
A |
7: 41,696,529 (GRCm39) |
Y71F |
probably benign |
Het |
Zbed6 |
A |
G |
1: 133,585,576 (GRCm39) |
F587S |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,467,161 (GRCm39) |
S2465P |
probably damaging |
Het |
|
Other mutations in Nrde2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02207:Nrde2
|
APN |
12 |
100,097,190 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02697:Nrde2
|
APN |
12 |
100,097,466 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02798:Nrde2
|
APN |
12 |
100,110,081 (GRCm39) |
nonsense |
probably null |
|
IGL02810:Nrde2
|
APN |
12 |
100,110,017 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02814:Nrde2
|
APN |
12 |
100,110,394 (GRCm39) |
missense |
probably null |
0.80 |
IGL02990:Nrde2
|
APN |
12 |
100,108,355 (GRCm39) |
missense |
probably damaging |
1.00 |
kurtz
|
UTSW |
12 |
100,100,664 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0090:Nrde2
|
UTSW |
12 |
100,095,545 (GRCm39) |
splice site |
probably benign |
|
R0646:Nrde2
|
UTSW |
12 |
100,110,105 (GRCm39) |
nonsense |
probably null |
|
R1130:Nrde2
|
UTSW |
12 |
100,091,929 (GRCm39) |
missense |
probably damaging |
0.97 |
R1216:Nrde2
|
UTSW |
12 |
100,116,069 (GRCm39) |
splice site |
probably benign |
|
R1661:Nrde2
|
UTSW |
12 |
100,116,119 (GRCm39) |
missense |
probably benign |
0.19 |
R2069:Nrde2
|
UTSW |
12 |
100,108,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R4405:Nrde2
|
UTSW |
12 |
100,096,843 (GRCm39) |
missense |
probably benign |
0.01 |
R4422:Nrde2
|
UTSW |
12 |
100,112,286 (GRCm39) |
nonsense |
probably null |
|
R5169:Nrde2
|
UTSW |
12 |
100,095,552 (GRCm39) |
critical splice donor site |
probably null |
|
R5200:Nrde2
|
UTSW |
12 |
100,096,756 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5338:Nrde2
|
UTSW |
12 |
100,097,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R5512:Nrde2
|
UTSW |
12 |
100,108,509 (GRCm39) |
missense |
probably benign |
0.20 |
R5820:Nrde2
|
UTSW |
12 |
100,098,546 (GRCm39) |
missense |
probably benign |
0.00 |
R6019:Nrde2
|
UTSW |
12 |
100,098,501 (GRCm39) |
missense |
probably benign |
0.04 |
R6346:Nrde2
|
UTSW |
12 |
100,098,565 (GRCm39) |
missense |
probably benign |
0.01 |
R6378:Nrde2
|
UTSW |
12 |
100,097,016 (GRCm39) |
missense |
probably damaging |
0.99 |
R6479:Nrde2
|
UTSW |
12 |
100,110,207 (GRCm39) |
missense |
probably benign |
0.00 |
R6523:Nrde2
|
UTSW |
12 |
100,100,664 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7073:Nrde2
|
UTSW |
12 |
100,098,747 (GRCm39) |
missense |
probably benign |
0.00 |
R7220:Nrde2
|
UTSW |
12 |
100,097,178 (GRCm39) |
missense |
probably benign |
0.05 |
R7412:Nrde2
|
UTSW |
12 |
100,108,509 (GRCm39) |
nonsense |
probably null |
|
R7505:Nrde2
|
UTSW |
12 |
100,098,757 (GRCm39) |
missense |
probably benign |
0.15 |
R7699:Nrde2
|
UTSW |
12 |
100,097,094 (GRCm39) |
missense |
probably benign |
0.16 |
R7700:Nrde2
|
UTSW |
12 |
100,097,094 (GRCm39) |
missense |
probably benign |
0.16 |
R7733:Nrde2
|
UTSW |
12 |
100,110,399 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7868:Nrde2
|
UTSW |
12 |
100,097,446 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7963:Nrde2
|
UTSW |
12 |
100,116,127 (GRCm39) |
missense |
probably damaging |
0.99 |
R8131:Nrde2
|
UTSW |
12 |
100,108,502 (GRCm39) |
missense |
probably benign |
0.02 |
R8213:Nrde2
|
UTSW |
12 |
100,097,262 (GRCm39) |
missense |
probably benign |
|
R9061:Nrde2
|
UTSW |
12 |
100,110,123 (GRCm39) |
missense |
probably benign |
0.00 |
R9142:Nrde2
|
UTSW |
12 |
100,117,518 (GRCm39) |
missense |
probably benign |
0.15 |
R9371:Nrde2
|
UTSW |
12 |
100,092,477 (GRCm39) |
missense |
probably benign |
0.09 |
R9412:Nrde2
|
UTSW |
12 |
100,096,681 (GRCm39) |
nonsense |
probably null |
|
R9468:Nrde2
|
UTSW |
12 |
100,106,268 (GRCm39) |
missense |
probably benign |
0.00 |
R9542:Nrde2
|
UTSW |
12 |
100,110,426 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCCGGATAATCACAGACGACAG -3'
(R):5'- ACGAGAGCAGCATCTTTGAGAGTG -3'
Sequencing Primer
(F):5'- TCTGAAGTGACTACCAGCGTC -3'
(R):5'- GAGTGAACTTTATGATGAAAAGCCCC -3'
|
Posted On |
2013-07-11 |