Incidental Mutation 'IGL01457:Nrdc'
| ID |
84821 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nrdc
|
| Ensembl Gene |
ENSMUSG00000053510 |
| Gene Name |
nardilysin convertase |
| Synonyms |
NRD-C, Nrd1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
IGL01457
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
108857852-108918974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108904857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 696
(N696S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065977]
[ENSMUST00000102736]
[ENSMUST00000106644]
[ENSMUST00000125645]
|
| AlphaFold |
Q8BHG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065977
AA Change: N696S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000068328
Gene: ENSMUSG00000053510
AA Change: N696S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
139 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
209 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M16
|
210 |
348 |
1.1e-43 |
PFAM |
|
Pfam:Peptidase_M16_C
|
373 |
559 |
2.3e-22 |
PFAM |
|
Pfam:Peptidase_M16_C
|
849 |
1032 |
1.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102736
AA Change: N652S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099797
Gene: ENSMUSG00000053510
AA Change: N652S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
139 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
209 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M16
|
210 |
348 |
1.4e-43 |
PFAM |
|
Pfam:Peptidase_M16_C
|
400 |
515 |
1.1e-9 |
PFAM |
|
Pfam:Peptidase_M16_C
|
805 |
988 |
2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106644
AA Change: N764S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102255
Gene: ENSMUSG00000053510
AA Change: N764S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
139 |
165 |
N/A |
INTRINSIC |
|
coiled coil region
|
187 |
225 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M16
|
281 |
416 |
1e-41 |
PFAM |
|
Pfam:Peptidase_M16_C
|
441 |
627 |
2.2e-23 |
PFAM |
|
Pfam:Peptidase_M16_M
|
631 |
913 |
1e-91 |
PFAM |
|
Pfam:Peptidase_M16_C
|
917 |
1100 |
6e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125645
|
| SMART Domains |
Protein: ENSMUSP00000122808
Gene: ENSMUSG00000053510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
1 |
100 |
6.4e-27 |
PFAM |
|
Pfam:Peptidase_M16_C
|
125 |
311 |
1.9e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150784
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele mostly die within 48 hours of birth with surviving mice exhibiting cortical thinning, enlarged lateral ventricles, hypomyelination, reduced grip strength, impaired coordination, and impaired spatial working memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,382,908 (GRCm39) |
Y1019F |
probably benign |
Het |
| 4930455H04Rik |
T |
G |
3: 116,762,200 (GRCm39) |
|
probably benign |
Het |
| 9830107B12Rik |
A |
T |
17: 48,439,193 (GRCm39) |
|
probably benign |
Het |
| Abcc8 |
A |
G |
7: 45,784,917 (GRCm39) |
V737A |
possibly damaging |
Het |
| Adamts20 |
T |
A |
15: 94,229,329 (GRCm39) |
Y930F |
probably damaging |
Het |
| Alkbh8 |
T |
A |
9: 3,369,825 (GRCm39) |
F365I |
probably damaging |
Het |
| App |
G |
A |
16: 84,900,127 (GRCm39) |
H108Y |
probably damaging |
Het |
| Bfsp1 |
T |
C |
2: 143,669,564 (GRCm39) |
|
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,578,263 (GRCm39) |
N478S |
probably damaging |
Het |
| Camsap3 |
G |
A |
8: 3,654,795 (GRCm39) |
V796I |
probably damaging |
Het |
| Carns1 |
A |
T |
19: 4,216,498 (GRCm39) |
|
probably null |
Het |
| Ccdc121 |
A |
T |
5: 31,644,771 (GRCm39) |
I175L |
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cltc |
C |
T |
11: 86,593,074 (GRCm39) |
M1600I |
probably benign |
Het |
| Cnot1 |
T |
A |
8: 96,467,637 (GRCm39) |
N1499Y |
probably damaging |
Het |
| Crebbp |
T |
A |
16: 3,942,632 (GRCm39) |
I196L |
probably damaging |
Het |
| Drc3 |
C |
A |
11: 60,249,475 (GRCm39) |
|
probably benign |
Het |
| Fam161a |
T |
A |
11: 22,970,702 (GRCm39) |
Y234* |
probably null |
Het |
| Il1r1 |
C |
A |
1: 40,352,330 (GRCm39) |
P500Q |
probably damaging |
Het |
| Katnal1 |
G |
T |
5: 148,830,607 (GRCm39) |
|
probably benign |
Het |
| Klhdc2 |
A |
G |
12: 69,343,827 (GRCm39) |
N20S |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,707,017 (GRCm39) |
T1527S |
possibly damaging |
Het |
| Magi1 |
C |
T |
6: 93,724,205 (GRCm39) |
G270D |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,715,922 (GRCm39) |
S2035T |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,301,275 (GRCm39) |
M1253K |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,226,336 (GRCm39) |
M435V |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,183,505 (GRCm39) |
I739V |
probably benign |
Het |
| Npnt |
T |
C |
3: 132,591,743 (GRCm39) |
K430R |
probably damaging |
Het |
| Oit3 |
T |
C |
10: 59,261,306 (GRCm39) |
|
probably benign |
Het |
| Or51a10 |
A |
G |
7: 103,699,376 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or51s1 |
A |
G |
7: 102,558,926 (GRCm39) |
I40T |
possibly damaging |
Het |
| Or5bw2 |
A |
G |
7: 6,573,211 (GRCm39) |
T74A |
probably benign |
Het |
| Or5p6 |
A |
T |
7: 107,631,328 (GRCm39) |
I74K |
possibly damaging |
Het |
| Pkd1 |
G |
A |
17: 24,813,795 (GRCm39) |
|
probably null |
Het |
| Plat |
A |
G |
8: 23,266,844 (GRCm39) |
M279V |
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,439,693 (GRCm39) |
L378* |
probably null |
Het |
| Rasgef1a |
C |
T |
6: 118,061,506 (GRCm39) |
T157I |
probably benign |
Het |
| Rbm22 |
A |
G |
18: 60,693,929 (GRCm39) |
N11S |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 51,922,426 (GRCm39) |
|
probably benign |
Het |
| Sema6d |
T |
A |
2: 124,495,562 (GRCm39) |
F3Y |
unknown |
Het |
| Sis |
T |
C |
3: 72,868,354 (GRCm39) |
D112G |
probably benign |
Het |
| Slit1 |
C |
A |
19: 41,599,483 (GRCm39) |
G1023C |
probably damaging |
Het |
| Spata31h1 |
C |
A |
10: 82,120,568 (GRCm39) |
K4147N |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,659,329 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,475,277 (GRCm39) |
I4881T |
probably benign |
Het |
| Supt6 |
C |
A |
11: 78,111,969 (GRCm39) |
D1038Y |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,087,144 (GRCm39) |
L945Q |
probably damaging |
Het |
| Tgfbr3 |
G |
T |
5: 107,297,764 (GRCm39) |
A212E |
probably damaging |
Het |
| Tipin |
A |
G |
9: 64,211,690 (GRCm39) |
T259A |
probably benign |
Het |
| Traip |
T |
C |
9: 107,847,671 (GRCm39) |
S365P |
probably benign |
Het |
| Tst |
T |
C |
15: 78,283,967 (GRCm39) |
T287A |
probably benign |
Het |
| Tube1 |
C |
T |
10: 39,021,718 (GRCm39) |
|
probably benign |
Het |
| Vmn1r37 |
T |
A |
6: 66,708,393 (GRCm39) |
N6K |
probably damaging |
Het |
| Vmn2r111 |
C |
A |
17: 22,790,966 (GRCm39) |
E111* |
probably null |
Het |
| Vmn2r17 |
C |
T |
5: 109,600,898 (GRCm39) |
T732I |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,836 (GRCm39) |
D767E |
possibly damaging |
Het |
|
| Other mutations in Nrdc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Nrdc
|
APN |
4 |
108,903,884 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00857:Nrdc
|
APN |
4 |
108,911,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01417:Nrdc
|
APN |
4 |
108,858,027 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02112:Nrdc
|
APN |
4 |
108,884,629 (GRCm39) |
splice site |
probably benign |
|
|
IGL02279:Nrdc
|
APN |
4 |
108,881,391 (GRCm39) |
splice site |
probably benign |
|
|
IGL02332:Nrdc
|
APN |
4 |
108,858,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02890:Nrdc
|
APN |
4 |
108,911,116 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03179:Nrdc
|
APN |
4 |
108,903,888 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4354001:Nrdc
|
UTSW |
4 |
108,911,222 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0551:Nrdc
|
UTSW |
4 |
108,904,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Nrdc
|
UTSW |
4 |
108,873,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1468:Nrdc
|
UTSW |
4 |
108,873,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1990:Nrdc
|
UTSW |
4 |
108,896,972 (GRCm39) |
nonsense |
probably null |
|
|
R4391:Nrdc
|
UTSW |
4 |
108,903,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4994:Nrdc
|
UTSW |
4 |
108,903,809 (GRCm39) |
missense |
probably benign |
|
|
R5164:Nrdc
|
UTSW |
4 |
108,896,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5229:Nrdc
|
UTSW |
4 |
108,906,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Nrdc
|
UTSW |
4 |
108,896,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5530:Nrdc
|
UTSW |
4 |
108,904,806 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5672:Nrdc
|
UTSW |
4 |
108,895,242 (GRCm39) |
nonsense |
probably null |
|
|
R5990:Nrdc
|
UTSW |
4 |
108,876,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Nrdc
|
UTSW |
4 |
108,870,944 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6106:Nrdc
|
UTSW |
4 |
108,901,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6114:Nrdc
|
UTSW |
4 |
108,901,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6140:Nrdc
|
UTSW |
4 |
108,906,308 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6285:Nrdc
|
UTSW |
4 |
108,895,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6824:Nrdc
|
UTSW |
4 |
108,900,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:Nrdc
|
UTSW |
4 |
108,885,999 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7353:Nrdc
|
UTSW |
4 |
108,896,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7735:Nrdc
|
UTSW |
4 |
108,895,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Nrdc
|
UTSW |
4 |
108,873,876 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8340:Nrdc
|
UTSW |
4 |
108,858,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8352:Nrdc
|
UTSW |
4 |
108,876,260 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8368:Nrdc
|
UTSW |
4 |
108,870,895 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8452:Nrdc
|
UTSW |
4 |
108,876,260 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9350:Nrdc
|
UTSW |
4 |
108,889,658 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9428:Nrdc
|
UTSW |
4 |
108,858,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9516:Nrdc
|
UTSW |
4 |
108,901,863 (GRCm39) |
missense |
probably benign |
|
|
R9526:Nrdc
|
UTSW |
4 |
108,915,833 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-11-11 |
Incidental Mutation