Incidental Mutation 'R8364:Nradd'
| ID |
646102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nradd
|
| Ensembl Gene |
ENSMUSG00000032491 |
| Gene Name |
neurotrophin receptor associated death domain |
| Synonyms |
NRDD, PLAIDD, 2610311B09Rik |
| MMRRC Submission |
067873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R8364 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110450203-110453461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 110450536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 214
(V214L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035069]
[ENSMUST00000133191]
[ENSMUST00000153838]
[ENSMUST00000167320]
[ENSMUST00000196488]
[ENSMUST00000196735]
[ENSMUST00000196876]
[ENSMUST00000197399]
|
| AlphaFold |
Q8CJ26 |
| PDB Structure |
Solution structure of p45 Death Domain [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035069
AA Change: V214L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035069
Gene: ENSMUSG00000032491
AA Change: V214L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
Pfam:Death
|
143 |
222 |
1.7e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130024
|
| SMART Domains |
Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
248 |
N/A |
INTRINSIC |
|
Pfam:DUF4704
|
345 |
607 |
2.5e-29 |
PFAM |
|
low complexity region
|
649 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
819 |
N/A |
INTRINSIC |
|
Pfam:DUF4800
|
872 |
1138 |
9.9e-113 |
PFAM |
|
low complexity region
|
1164 |
1193 |
N/A |
INTRINSIC |
|
Pfam:PH_BEACH
|
1204 |
1291 |
2.2e-21 |
PFAM |
|
Beach
|
1343 |
1623 |
5.2e-205 |
SMART |
|
WD40
|
1721 |
1766 |
1.03e1 |
SMART |
|
WD40
|
1769 |
1808 |
6.19e-5 |
SMART |
|
WD40
|
1820 |
1859 |
1.02e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131017
|
| SMART Domains |
Protein: ENSMUSP00000114660
Gene: ENSMUSG00000056724
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4800
|
1 |
209 |
7.5e-97 |
PFAM |
|
low complexity region
|
235 |
264 |
N/A |
INTRINSIC |
|
Pfam:PH_BEACH
|
275 |
362 |
1e-21 |
PFAM |
|
Beach
|
414 |
694 |
5.2e-205 |
SMART |
|
WD40
|
762 |
807 |
1.03e1 |
SMART |
|
WD40
|
810 |
849 |
6.19e-5 |
SMART |
|
WD40
|
861 |
900 |
1.02e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133191
|
| SMART Domains |
Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
542 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
578 |
818 |
5.9e-8 |
PFAM |
|
low complexity region
|
1014 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1128 |
1136 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1163 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1375 |
N/A |
INTRINSIC |
|
low complexity region
|
1515 |
1530 |
N/A |
INTRINSIC |
|
low complexity region
|
1621 |
1647 |
N/A |
INTRINSIC |
|
low complexity region
|
1875 |
1904 |
N/A |
INTRINSIC |
|
Pfam:PH_BEACH
|
1908 |
2002 |
6.2e-28 |
PFAM |
|
Beach
|
2054 |
2334 |
5.2e-205 |
SMART |
|
WD40
|
2432 |
2477 |
1.03e1 |
SMART |
|
WD40
|
2480 |
2519 |
6.19e-5 |
SMART |
|
WD40
|
2531 |
2570 |
1.02e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153838
|
| SMART Domains |
Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
883 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1039 |
N/A |
INTRINSIC |
|
low complexity region
|
1066 |
1077 |
N/A |
INTRINSIC |
|
low complexity region
|
1384 |
1395 |
N/A |
INTRINSIC |
|
AWS
|
1468 |
1523 |
8.39e-30 |
SMART |
|
SET
|
1524 |
1647 |
3.07e-41 |
SMART |
|
PostSET
|
1648 |
1664 |
1.27e-5 |
SMART |
|
Blast:SET
|
1689 |
1714 |
2e-6 |
BLAST |
|
low complexity region
|
1884 |
1909 |
N/A |
INTRINSIC |
|
low complexity region
|
1956 |
1967 |
N/A |
INTRINSIC |
|
coiled coil region
|
2090 |
2113 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2211 |
N/A |
INTRINSIC |
|
low complexity region
|
2248 |
2265 |
N/A |
INTRINSIC |
|
WW
|
2363 |
2395 |
2.1e-11 |
SMART |
|
Pfam:SRI
|
2440 |
2530 |
6e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167320
|
| SMART Domains |
Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
775 |
N/A |
INTRINSIC |
|
Pfam:DUF4704
|
872 |
1148 |
9.2e-32 |
PFAM |
|
low complexity region
|
1149 |
1163 |
N/A |
INTRINSIC |
|
low complexity region
|
1366 |
1382 |
N/A |
INTRINSIC |
|
low complexity region
|
1522 |
1537 |
N/A |
INTRINSIC |
|
Pfam:DUF4800
|
1590 |
1856 |
1.5e-112 |
PFAM |
|
low complexity region
|
1882 |
1911 |
N/A |
INTRINSIC |
|
Pfam:PH_BEACH
|
1922 |
2009 |
3.1e-21 |
PFAM |
|
Beach
|
2061 |
2341 |
5.2e-205 |
SMART |
|
WD40
|
2439 |
2484 |
1.03e1 |
SMART |
|
WD40
|
2487 |
2526 |
6.19e-5 |
SMART |
|
WD40
|
2538 |
2577 |
1.02e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196488
|
| SMART Domains |
Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
515 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
551 |
791 |
5.3e-6 |
PFAM |
|
low complexity region
|
987 |
1001 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1109 |
N/A |
INTRINSIC |
|
low complexity region
|
1122 |
1136 |
N/A |
INTRINSIC |
|
low complexity region
|
1332 |
1348 |
N/A |
INTRINSIC |
|
low complexity region
|
1488 |
1503 |
N/A |
INTRINSIC |
|
low complexity region
|
1594 |
1620 |
N/A |
INTRINSIC |
|
low complexity region
|
1848 |
1877 |
N/A |
INTRINSIC |
|
Pfam:PH_BEACH
|
1881 |
1975 |
3.1e-25 |
PFAM |
|
Beach
|
2027 |
2307 |
3.8e-209 |
SMART |
|
WD40
|
2405 |
2450 |
6.3e-2 |
SMART |
|
WD40
|
2453 |
2492 |
3.8e-7 |
SMART |
|
WD40
|
2504 |
2543 |
6.5e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196735
|
| SMART Domains |
Protein: ENSMUSP00000143785
Gene: ENSMUSG00000032491
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
Pfam:Death
|
143 |
200 |
2.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196876
|
| SMART Domains |
Protein: ENSMUSP00000142925
Gene: ENSMUSG00000032491
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197399
|
| SMART Domains |
Protein: ENSMUSP00000142572
Gene: ENSMUSG00000044791
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
7 |
39 |
2.1e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200460
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no significant change in the total number of dorsal root ganglion (DRG) sensory neurons, despite an increased proportion of DRG sensory neurons expressing p75NTR. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
A |
1: 89,815,396 (GRCm39) |
N761K |
probably damaging |
Het |
| Amotl1 |
G |
A |
9: 14,556,218 (GRCm39) |
A36V |
probably benign |
Het |
| Apol7a |
A |
G |
15: 77,273,820 (GRCm39) |
V214A |
possibly damaging |
Het |
| Arhgef25 |
G |
T |
10: 127,025,632 (GRCm39) |
Q3K |
unknown |
Het |
| Bpifc |
A |
T |
10: 85,797,891 (GRCm39) |
I456N |
probably damaging |
Het |
| Cers6 |
C |
T |
2: 68,692,083 (GRCm39) |
A35V |
possibly damaging |
Het |
| Corin |
T |
A |
5: 72,462,274 (GRCm39) |
Y986F |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 48,536,837 (GRCm39) |
Y122N |
probably damaging |
Het |
| Ddit4l |
T |
A |
3: 137,329,996 (GRCm39) |
L18* |
probably null |
Het |
| Epb41l3 |
T |
C |
17: 69,573,429 (GRCm39) |
|
probably null |
Het |
| Fam110a |
C |
T |
2: 151,812,338 (GRCm39) |
R144H |
probably damaging |
Het |
| Greb1l |
G |
T |
18: 10,529,687 (GRCm39) |
V890L |
possibly damaging |
Het |
| Hivep3 |
A |
T |
4: 119,956,639 (GRCm39) |
M1652L |
probably benign |
Het |
| Ighv1-19 |
G |
T |
12: 114,672,546 (GRCm39) |
Q25K |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,481,787 (GRCm39) |
L489P |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Krr1 |
A |
G |
10: 111,813,104 (GRCm39) |
R160G |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,661,404 (GRCm39) |
D515G |
probably damaging |
Het |
| Lars2 |
G |
T |
9: 123,241,019 (GRCm39) |
G229* |
probably null |
Het |
| Lgalsl |
T |
A |
11: 20,781,009 (GRCm39) |
M1L |
possibly damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,294,259 (GRCm39) |
T291S |
probably benign |
Het |
| Morc2b |
G |
A |
17: 33,357,214 (GRCm39) |
T186I |
probably benign |
Het |
| Mup20 |
G |
T |
4: 61,969,768 (GRCm39) |
S157R |
probably damaging |
Het |
| Nlgn1 |
A |
G |
3: 25,490,140 (GRCm39) |
V529A |
probably benign |
Het |
| Nps |
T |
A |
7: 134,870,543 (GRCm39) |
W22R |
probably benign |
Het |
| Ogfrl1 |
G |
A |
1: 23,414,824 (GRCm39) |
Q228* |
probably null |
Het |
| Or10g9 |
T |
C |
9: 39,911,660 (GRCm39) |
T288A |
probably benign |
Het |
| Or56a3b |
T |
A |
7: 104,770,910 (GRCm39) |
I82N |
probably damaging |
Het |
| Or5m11b |
G |
A |
2: 85,806,358 (GRCm39) |
C257Y |
possibly damaging |
Het |
| Ripor2 |
A |
G |
13: 24,894,176 (GRCm39) |
T735A |
possibly damaging |
Het |
| Rnase6 |
C |
A |
14: 51,367,910 (GRCm39) |
P101T |
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,225,716 (GRCm39) |
Y455F |
possibly damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,696,774 (GRCm39) |
M330V |
possibly damaging |
Het |
| Sypl2 |
T |
C |
3: 108,125,050 (GRCm39) |
T104A |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,421,313 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
C |
A |
1: 105,745,412 (GRCm39) |
T150K |
probably damaging |
Het |
| Tpsg1 |
T |
C |
17: 25,593,230 (GRCm39) |
L311P |
possibly damaging |
Het |
| Ttc7b |
T |
C |
12: 100,291,817 (GRCm39) |
S766G |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,316,037 (GRCm39) |
T478A |
probably benign |
Het |
| Wdr1 |
G |
A |
5: 38,685,192 (GRCm39) |
T593I |
possibly damaging |
Het |
| Zfp407 |
A |
G |
18: 84,570,993 (GRCm39) |
|
probably null |
Het |
| Zfp872 |
G |
A |
9: 22,111,540 (GRCm39) |
G340R |
probably damaging |
Het |
|
| Other mutations in Nradd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01977:Nradd
|
APN |
9 |
110,451,237 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1898:Nradd
|
UTSW |
9 |
110,450,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2048:Nradd
|
UTSW |
9 |
110,450,697 (GRCm39) |
missense |
probably benign |
|
|
R2147:Nradd
|
UTSW |
9 |
110,451,243 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4729:Nradd
|
UTSW |
9 |
110,450,979 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6232:Nradd
|
UTSW |
9 |
110,450,655 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7132:Nradd
|
UTSW |
9 |
110,451,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8085:Nradd
|
UTSW |
9 |
110,451,179 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9157:Nradd
|
UTSW |
9 |
110,451,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9282:Nradd
|
UTSW |
9 |
110,450,751 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACATGAAGTGGCCGGATC -3'
(R):5'- TGCATATTCCACAGCAGCAGC -3'
Sequencing Primer
(F):5'- AACATGAAGTGGCCGGATCTTTTG -3'
(R):5'- TATTCCACAGCAGCAGCAGGAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation