Incidental Mutation 'R5530:Nrdc'
| ID |
433625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrdc
|
| Ensembl Gene |
ENSMUSG00000053510 |
| Gene Name |
nardilysin convertase |
| Synonyms |
NRD-C, Nrd1 |
| MMRRC Submission |
043088-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R5530 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
108857852-108918974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108904806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 747
(T747M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065977]
[ENSMUST00000102736]
[ENSMUST00000106644]
[ENSMUST00000125645]
|
| AlphaFold |
Q8BHG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065977
AA Change: T679M
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000068328
Gene: ENSMUSG00000053510
AA Change: T679M
| 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: T635M
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099797
Gene: ENSMUSG00000053510
AA Change: T635M
| 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: T747M
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102255
Gene: ENSMUSG00000053510
AA Change: T747M
| 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 |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
G |
1: 75,154,556 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
A |
G |
2: 25,174,595 (GRCm39) |
K653E |
possibly damaging |
Het |
| Aplp1 |
T |
C |
7: 30,136,254 (GRCm39) |
S508G |
possibly damaging |
Het |
| Bend3 |
T |
A |
10: 43,387,722 (GRCm39) |
V705D |
probably damaging |
Het |
| Btaf1 |
C |
A |
19: 36,968,175 (GRCm39) |
A1120E |
possibly damaging |
Het |
| Carmil3 |
T |
C |
14: 55,731,081 (GRCm39) |
V116A |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,802,459 (GRCm39) |
Y238* |
probably null |
Het |
| Cep170 |
T |
C |
1: 176,597,076 (GRCm39) |
H427R |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,313,334 (GRCm39) |
R3079W |
probably damaging |
Het |
| Edc4 |
G |
T |
8: 106,615,886 (GRCm39) |
E694* |
probably null |
Het |
| Entrep1 |
T |
A |
19: 23,952,958 (GRCm39) |
T451S |
probably benign |
Het |
| Epb41l4b |
A |
G |
4: 57,086,003 (GRCm39) |
S191P |
probably damaging |
Het |
| Fbxo46 |
T |
C |
7: 18,870,727 (GRCm39) |
Y449H |
probably damaging |
Het |
| Ficd |
C |
A |
5: 113,876,986 (GRCm39) |
P387Q |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,721 (GRCm39) |
T942A |
probably benign |
Het |
| Hoxb1 |
G |
C |
11: 96,257,754 (GRCm39) |
R228P |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,085,541 (GRCm39) |
F2444L |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,962,917 (GRCm39) |
F103S |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,845,836 (GRCm39) |
I402V |
probably benign |
Het |
| Mtcl2 |
T |
A |
2: 156,862,262 (GRCm39) |
S1556C |
probably damaging |
Het |
| Mvp |
A |
G |
7: 126,595,095 (GRCm39) |
V250A |
probably benign |
Het |
| Myo1b |
T |
A |
1: 51,836,582 (GRCm39) |
N293I |
probably damaging |
Het |
| Npy5r |
T |
A |
8: 67,133,512 (GRCm39) |
Y427F |
probably benign |
Het |
| Nrxn2 |
C |
T |
19: 6,548,397 (GRCm39) |
P30L |
possibly damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,656,857 (GRCm39) |
F332S |
probably damaging |
Het |
| Optc |
T |
G |
1: 133,832,828 (GRCm39) |
T91P |
probably benign |
Het |
| Or14j10 |
A |
G |
17: 37,934,698 (GRCm39) |
I276T |
possibly damaging |
Het |
| Or8b12c |
A |
G |
9: 37,716,103 (GRCm39) |
T299A |
probably benign |
Het |
| Otud7b |
A |
T |
3: 96,048,799 (GRCm39) |
E92V |
probably damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,226 (GRCm39) |
L314P |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,100,036 (GRCm39) |
I677T |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,778,893 (GRCm39) |
E67G |
probably damaging |
Het |
| Ppil6 |
T |
C |
10: 41,383,494 (GRCm39) |
S257P |
probably damaging |
Het |
| Ppp1r14a |
T |
C |
7: 28,988,791 (GRCm39) |
L11P |
probably benign |
Het |
| Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,232 (GRCm39) |
M445K |
probably benign |
Het |
| Rad21l |
A |
T |
2: 151,499,430 (GRCm39) |
I257K |
probably benign |
Het |
| Rbm11 |
A |
G |
16: 75,389,861 (GRCm39) |
D9G |
possibly damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,491,488 (GRCm39) |
Y586C |
probably damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,980,275 (GRCm39) |
I276F |
probably damaging |
Het |
| Sec14l4 |
A |
G |
11: 3,996,342 (GRCm39) |
*404W |
probably null |
Het |
| Sec16a |
A |
G |
2: 26,329,264 (GRCm39) |
V917A |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,887,461 (GRCm39) |
Y131* |
probably null |
Het |
| Sspo |
A |
T |
6: 48,442,517 (GRCm39) |
Y2004F |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,783,026 (GRCm39) |
E674G |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,135,048 (GRCm39) |
S989P |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,031,393 (GRCm39) |
D1005G |
probably damaging |
Het |
| Wdr19 |
T |
C |
5: 65,385,562 (GRCm39) |
S555P |
probably benign |
Het |
| Zdhhc24 |
T |
A |
19: 4,933,591 (GRCm39) |
|
probably null |
Het |
| Zfp558 |
A |
G |
9: 18,367,669 (GRCm39) |
M373T |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACCCTCTCCTAATTAACGG -3'
(R):5'- CACTCCCATAAGCACAGGTG -3'
Sequencing Primer
(F):5'- CCTAATTAACGGTTACTTGGGAAAGG -3'
(R):5'- GGTGCACACTGTTAGCCTATAACTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation