Incidental Mutation 'R6114:Nrdc'
ID |
485004 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrdc
|
Ensembl Gene |
ENSMUSG00000053510 |
Gene Name |
nardilysin convertase |
Synonyms |
NRD-C, Nrd1 |
MMRRC Submission |
044263-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.160)
|
Stock # |
R6114 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
108857852-108918974 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108901782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 617
(K617M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065977]
[ENSMUST00000102736]
[ENSMUST00000106644]
[ENSMUST00000125645]
|
AlphaFold |
Q8BHG1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065977
AA Change: K617M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000068328 Gene: ENSMUSG00000053510 AA Change: K617M
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 damaging
Transcript: ENSMUST00000102736
AA Change: K573M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099797 Gene: ENSMUSG00000053510 AA Change: K573M
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 damaging
Transcript: ENSMUST00000106644
AA Change: K685M
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102255 Gene: ENSMUSG00000053510 AA Change: K685M
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
AA Change: K369M
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000122808 Gene: ENSMUSG00000053510 AA Change: K369M
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
94% (60/64) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
C |
A |
14: 68,809,252 (GRCm39) |
V237L |
probably benign |
Het |
Aff1 |
T |
C |
5: 103,990,163 (GRCm39) |
S878P |
probably damaging |
Het |
Ahcy |
A |
C |
2: 154,904,079 (GRCm39) |
L386R |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,804,700 (GRCm39) |
N607D |
probably damaging |
Het |
Arid5b |
T |
C |
10: 67,933,574 (GRCm39) |
D776G |
possibly damaging |
Het |
Art4 |
T |
A |
6: 136,834,211 (GRCm39) |
T11S |
unknown |
Het |
Blm |
T |
C |
7: 80,163,235 (GRCm39) |
T39A |
probably damaging |
Het |
Cabin1 |
T |
A |
10: 75,583,805 (GRCm39) |
M221L |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,573,101 (GRCm39) |
T1675A |
probably benign |
Het |
Cacnb2 |
A |
T |
2: 14,980,012 (GRCm39) |
H285L |
possibly damaging |
Het |
Cchcr1 |
A |
G |
17: 35,836,227 (GRCm39) |
E339G |
probably damaging |
Het |
Cd14 |
A |
G |
18: 36,859,006 (GRCm39) |
W150R |
probably damaging |
Het |
Cep162 |
A |
G |
9: 87,085,763 (GRCm39) |
I1187T |
probably benign |
Het |
Cntnap4 |
A |
G |
8: 113,568,385 (GRCm39) |
H807R |
probably damaging |
Het |
Copb1 |
T |
A |
7: 113,846,036 (GRCm39) |
H178L |
probably benign |
Het |
Cpxm2 |
A |
G |
7: 131,756,035 (GRCm39) |
V103A |
probably benign |
Het |
Egfr |
A |
G |
11: 16,854,374 (GRCm39) |
T849A |
possibly damaging |
Het |
Endou |
T |
A |
15: 97,611,757 (GRCm39) |
K294* |
probably null |
Het |
Hoxd9 |
A |
G |
2: 74,529,709 (GRCm39) |
N322D |
probably damaging |
Het |
Hsph1 |
C |
A |
5: 149,550,852 (GRCm39) |
V416L |
possibly damaging |
Het |
Igkv4-78 |
T |
A |
6: 69,036,743 (GRCm39) |
T97S |
possibly damaging |
Het |
Itga10 |
G |
T |
3: 96,556,351 (GRCm39) |
C162F |
probably damaging |
Het |
Lmod2 |
A |
G |
6: 24,603,691 (GRCm39) |
E222G |
probably damaging |
Het |
Lpar5 |
A |
G |
6: 125,058,639 (GRCm39) |
N120S |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,508,617 (GRCm39) |
|
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,632,029 (GRCm39) |
I1318V |
probably benign |
Het |
Lst1 |
T |
C |
17: 35,407,336 (GRCm39) |
T11A |
possibly damaging |
Het |
Mfn1 |
C |
A |
3: 32,617,985 (GRCm39) |
A106D |
probably damaging |
Het |
Ms4a12 |
G |
T |
19: 11,192,654 (GRCm39) |
N227K |
probably benign |
Het |
Nr1h4 |
T |
A |
10: 89,314,678 (GRCm39) |
N273Y |
possibly damaging |
Het |
Or10a3b |
A |
T |
7: 108,444,593 (GRCm39) |
M208K |
possibly damaging |
Het |
Or1l8 |
A |
T |
2: 36,817,701 (GRCm39) |
C142S |
possibly damaging |
Het |
Or6c202 |
T |
A |
10: 128,996,202 (GRCm39) |
H217L |
probably benign |
Het |
Pcdhgc3 |
C |
G |
18: 37,940,925 (GRCm39) |
T442R |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,500,686 (GRCm39) |
N1468S |
probably damaging |
Het |
Pde2a |
A |
T |
7: 101,160,319 (GRCm39) |
|
probably null |
Het |
Pitx2 |
C |
G |
3: 128,998,062 (GRCm39) |
|
probably null |
Het |
Reck |
T |
A |
4: 43,922,895 (GRCm39) |
I390N |
probably damaging |
Het |
Rora |
A |
G |
9: 69,278,605 (GRCm39) |
N254S |
probably benign |
Het |
Samd4b |
A |
G |
7: 28,222,217 (GRCm39) |
|
probably null |
Het |
Scn8a |
A |
G |
15: 100,938,477 (GRCm39) |
T1949A |
probably damaging |
Het |
Slc22a15 |
A |
T |
3: 101,768,168 (GRCm39) |
Y346* |
probably null |
Het |
Slc24a5 |
A |
G |
2: 124,925,012 (GRCm39) |
T218A |
probably benign |
Het |
Slc38a10 |
G |
A |
11: 120,020,138 (GRCm39) |
Q305* |
probably null |
Het |
Slc45a4 |
G |
A |
15: 73,477,453 (GRCm39) |
P28S |
probably damaging |
Het |
Smyd5 |
A |
T |
6: 85,417,244 (GRCm39) |
|
probably benign |
Het |
Sox8 |
T |
C |
17: 25,786,494 (GRCm39) |
D403G |
probably damaging |
Het |
Stx7 |
A |
G |
10: 24,060,883 (GRCm39) |
|
probably null |
Het |
Svil |
T |
C |
18: 5,108,639 (GRCm39) |
S1522P |
probably damaging |
Het |
Sycp2 |
G |
C |
2: 177,990,038 (GRCm39) |
R1403G |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,640,081 (GRCm39) |
T352M |
probably damaging |
Het |
Tcf25 |
A |
T |
8: 124,111,114 (GRCm39) |
K192M |
probably damaging |
Het |
Tecpr1 |
C |
T |
5: 144,141,458 (GRCm39) |
G804S |
possibly damaging |
Het |
Teddm1a |
C |
G |
1: 153,767,614 (GRCm39) |
S26C |
probably damaging |
Het |
Usp13 |
C |
T |
3: 32,908,818 (GRCm39) |
P155S |
probably damaging |
Het |
Usp17lb |
T |
A |
7: 104,489,571 (GRCm39) |
D451V |
possibly damaging |
Het |
Vmn1r173 |
A |
G |
7: 23,402,254 (GRCm39) |
N163S |
possibly damaging |
Het |
Vmn2r103 |
G |
T |
17: 20,032,587 (GRCm39) |
C787F |
probably damaging |
Het |
Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
Zbtb40 |
T |
A |
4: 136,716,002 (GRCm39) |
I988F |
probably damaging |
Het |
Zbtb47 |
T |
A |
9: 121,594,661 (GRCm39) |
F540Y |
probably damaging |
Het |
Zfp536 |
A |
T |
7: 37,179,161 (GRCm39) |
I84N |
probably 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 |
|
IGL01457:Nrdc
|
APN |
4 |
108,904,857 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCACTGAACATCATGACACTGTAG -3'
(R):5'- TTTGTCTCCATAAGAACCACCAAAG -3'
Sequencing Primer
(F):5'- GATTTCTGAGTTCCAGGACAGCC -3'
(R):5'- TCAGCAGTAGAGAGTTCCTGC -3'
|
Posted On |
2017-08-16 |