Incidental Mutation 'R8131:Nrde2'
| ID |
632030 |
| 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 |
067560-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8131 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
100091711-100125912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100108502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 363
(K363R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021596]
[ENSMUST00000221954]
|
| AlphaFold |
Q80XC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021596
AA Change: K363R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000021596
Gene: ENSMUSG00000021179
AA Change: K363R
| 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 |
probably benign
Transcript: ENSMUST00000221954
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.1%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
A |
G |
11: 70,506,834 (GRCm39) |
|
probably null |
Het |
| Abcb10 |
C |
T |
8: 124,691,757 (GRCm39) |
A403T |
|
Het |
| Acan |
C |
T |
7: 78,741,086 (GRCm39) |
P484L |
possibly damaging |
Het |
| Amotl2 |
T |
A |
9: 102,597,615 (GRCm39) |
Y125N |
probably damaging |
Het |
| Apaf1 |
C |
A |
10: 90,913,420 (GRCm39) |
V168F |
possibly damaging |
Het |
| Arhgap32 |
C |
T |
9: 32,158,426 (GRCm39) |
H154Y |
probably damaging |
Het |
| B4galnt3 |
A |
G |
6: 120,271,346 (GRCm39) |
|
probably null |
Het |
| Bahcc1 |
C |
T |
11: 120,163,664 (GRCm39) |
A654V |
probably benign |
Het |
| Bcl11b |
T |
A |
12: 107,931,967 (GRCm39) |
M202L |
probably benign |
Het |
| Cdc40 |
C |
A |
10: 40,717,473 (GRCm39) |
R406L |
possibly damaging |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Col26a1 |
T |
C |
5: 136,775,894 (GRCm39) |
D353G |
probably benign |
Het |
| Col6a5 |
T |
A |
9: 105,778,815 (GRCm39) |
Q1682L |
unknown |
Het |
| Cul9 |
C |
T |
17: 46,822,168 (GRCm39) |
G1819D |
probably damaging |
Het |
| Cyp2b10 |
C |
T |
7: 25,614,242 (GRCm39) |
Q239* |
probably null |
Het |
| Dthd1 |
T |
A |
5: 63,000,259 (GRCm39) |
I527N |
probably damaging |
Het |
| Dzip3 |
C |
T |
16: 48,754,156 (GRCm39) |
|
probably null |
Het |
| Ecm2 |
A |
G |
13: 49,671,940 (GRCm39) |
E147G |
probably benign |
Het |
| Ercc6l2 |
C |
T |
13: 63,982,561 (GRCm39) |
T132M |
probably damaging |
Het |
| Esf1 |
G |
A |
2: 139,990,751 (GRCm39) |
Q578* |
probably null |
Het |
| Gria4 |
C |
T |
9: 4,502,429 (GRCm39) |
R368H |
probably benign |
Het |
| Hps5 |
T |
C |
7: 46,421,312 (GRCm39) |
D717G |
probably benign |
Het |
| Hrh1 |
A |
T |
6: 114,457,253 (GRCm39) |
D178V |
probably benign |
Het |
| Inppl1 |
T |
C |
7: 101,479,268 (GRCm39) |
N537S |
possibly damaging |
Het |
| Itih1 |
T |
C |
14: 30,663,521 (GRCm39) |
Y165C |
probably damaging |
Het |
| Krt71 |
T |
A |
15: 101,643,141 (GRCm39) |
I456F |
possibly damaging |
Het |
| Larp4 |
T |
C |
15: 99,892,570 (GRCm39) |
V255A |
probably damaging |
Het |
| Lrriq1 |
T |
G |
10: 103,051,572 (GRCm39) |
R393S |
possibly damaging |
Het |
| Mep1a |
T |
A |
17: 43,813,558 (GRCm39) |
I31L |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,396,146 (GRCm39) |
T134I |
unknown |
Het |
| Neurl4 |
T |
C |
11: 69,800,067 (GRCm39) |
Y1052H |
probably benign |
Het |
| Nlrc5 |
C |
G |
8: 95,208,420 (GRCm39) |
N755K |
probably damaging |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,335 (GRCm39) |
S494P |
possibly damaging |
Het |
| Pcnx1 |
C |
A |
12: 81,965,292 (GRCm39) |
S486R |
possibly damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,161 (GRCm39) |
R494* |
probably null |
Het |
| Plrg1 |
T |
A |
3: 82,977,081 (GRCm39) |
V374E |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,042,916 (GRCm39) |
I1491T |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Scn4a |
T |
C |
11: 106,232,367 (GRCm39) |
E490G |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,300,958 (GRCm39) |
V887A |
|
Het |
| Serpina3a |
T |
C |
12: 104,082,467 (GRCm39) |
I80T |
probably damaging |
Het |
| Setd1b |
A |
T |
5: 123,281,443 (GRCm39) |
I66F |
unknown |
Het |
| Slirp |
T |
A |
12: 87,494,428 (GRCm39) |
|
probably null |
Het |
| Socs6 |
A |
C |
18: 88,888,169 (GRCm39) |
S249A |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,669,027 (GRCm39) |
E1183G |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,616,077 (GRCm39) |
I16622N |
probably damaging |
Het |
| Uox |
A |
T |
3: 146,331,589 (GRCm39) |
T237S |
probably damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,326 (GRCm39) |
I296L |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,601,943 (GRCm39) |
D565V |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,372,255 (GRCm39) |
|
probably null |
Het |
| Vps13d |
A |
G |
4: 144,882,707 (GRCm39) |
V962A |
|
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 |
|
|
R0576:Nrde2
|
UTSW |
12 |
100,098,492 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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'- CCAAACTGGCTCTGGCAAAAG -3'
(R):5'- TCAACAACGTCTTACTAGTGGC -3'
Sequencing Primer
(F):5'- AGATAGCGCTGCCACAGG -3'
(R):5'- CTTTTGTTGAAAGCTGGAAACCCAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation