Incidental Mutation 'R7735:Nrdc'
| ID |
596185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrdc
|
| Ensembl Gene |
ENSMUSG00000053510 |
| Gene Name |
nardilysin convertase |
| Synonyms |
NRD-C, Nrd1 |
| MMRRC Submission |
045791-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R7735 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108857852-108918974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108895182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 469
(L469F)
|
| 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: L469F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068328
Gene: ENSMUSG00000053510
AA Change: L469F
| 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: L425F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099797
Gene: ENSMUSG00000053510
AA Change: L425F
| 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: L537F
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102255
Gene: ENSMUSG00000053510
AA Change: L537F
| 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 damaging
Transcript: ENSMUST00000125645
AA Change: L221F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122808
Gene: ENSMUSG00000053510
AA Change: L221F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,655,629 (GRCm39) |
T617A |
probably benign |
Het |
| Agl |
A |
T |
3: 116,578,795 (GRCm39) |
I446N |
probably benign |
Het |
| Aox1 |
C |
T |
1: 58,107,451 (GRCm39) |
P575L |
probably benign |
Het |
| Ap2m1 |
A |
T |
16: 20,358,269 (GRCm39) |
I96F |
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 44,006,642 (GRCm39) |
D253G |
probably damaging |
Het |
| Arsa |
A |
T |
15: 89,359,152 (GRCm39) |
C171* |
probably null |
Het |
| Arsb |
G |
T |
13: 93,908,491 (GRCm39) |
R69L |
probably benign |
Het |
| Asb13 |
G |
A |
13: 3,684,180 (GRCm39) |
|
probably null |
Het |
| Canx |
G |
T |
11: 50,191,866 (GRCm39) |
D348E |
probably damaging |
Het |
| Cebpz |
C |
T |
17: 79,233,342 (GRCm39) |
|
probably null |
Het |
| Ces2h |
A |
T |
8: 105,741,127 (GRCm39) |
I40L |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,660,039 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,350,723 (GRCm39) |
|
probably null |
Het |
| Cxadr |
T |
A |
16: 78,125,949 (GRCm39) |
N106K |
possibly damaging |
Het |
| Ddo |
T |
C |
10: 40,507,770 (GRCm39) |
C56R |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,046,412 (GRCm39) |
G3192D |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,962,465 (GRCm39) |
V49E |
probably benign |
Het |
| Epha10 |
T |
C |
4: 124,807,472 (GRCm39) |
Y578H |
|
Het |
| Fbxw16 |
T |
C |
9: 109,270,135 (GRCm39) |
D202G |
probably damaging |
Het |
| Gzf1 |
T |
C |
2: 148,530,083 (GRCm39) |
V538A |
possibly damaging |
Het |
| Igha |
T |
A |
12: 113,220,019 (GRCm39) |
|
probably benign |
Het |
| Iqce |
G |
T |
5: 140,663,839 (GRCm39) |
Q457K |
probably benign |
Het |
| Kbtbd3 |
A |
G |
9: 4,330,846 (GRCm39) |
K407E |
possibly damaging |
Het |
| Lipt1 |
A |
G |
1: 37,914,703 (GRCm39) |
E253G |
probably damaging |
Het |
| Mrnip |
G |
A |
11: 50,087,800 (GRCm39) |
W107* |
probably null |
Het |
| Mroh4 |
T |
C |
15: 74,497,357 (GRCm39) |
T224A |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,218,661 (GRCm39) |
S1389R |
probably benign |
Het |
| Npffr2 |
A |
G |
5: 89,731,173 (GRCm39) |
I368V |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,092,883 (GRCm39) |
Q1279L |
probably damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,819 (GRCm39) |
N200I |
probably damaging |
Het |
| Or7e170 |
A |
G |
9: 19,795,410 (GRCm39) |
Y64H |
probably damaging |
Het |
| Pcdha4 |
T |
G |
18: 37,085,961 (GRCm39) |
I48S |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,469,101 (GRCm39) |
Y211C |
possibly damaging |
Het |
| Prrt4 |
A |
T |
6: 29,170,035 (GRCm39) |
S806T |
possibly damaging |
Het |
| Ptpn20 |
T |
A |
14: 33,352,902 (GRCm39) |
Y214N |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,417,661 (GRCm39) |
N938K |
probably damaging |
Het |
| Scn2a |
G |
T |
2: 65,594,013 (GRCm39) |
V1621L |
probably benign |
Het |
| Senp3 |
A |
G |
11: 69,569,087 (GRCm39) |
I358T |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,042,508 (GRCm39) |
S461T |
probably benign |
Het |
| Slc22a2 |
C |
T |
17: 12,828,917 (GRCm39) |
T341I |
probably damaging |
Het |
| Slc38a7 |
A |
T |
8: 96,568,295 (GRCm39) |
D363E |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,598,090 (GRCm39) |
|
probably null |
Het |
| Smo |
T |
A |
6: 29,759,851 (GRCm39) |
V650E |
probably damaging |
Het |
| Spata17 |
G |
A |
1: 186,872,577 (GRCm39) |
T31I |
unknown |
Het |
| Sstr2 |
T |
A |
11: 113,515,423 (GRCm39) |
I114N |
possibly damaging |
Het |
| Styxl1 |
T |
C |
5: 135,788,023 (GRCm39) |
Y146C |
probably damaging |
Het |
| Synpo2l |
T |
C |
14: 20,711,243 (GRCm39) |
Q688R |
possibly damaging |
Het |
| Tmem245 |
C |
T |
4: 56,925,155 (GRCm39) |
R322H |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,890,398 (GRCm39) |
E247G |
unknown |
Het |
| Ttc28 |
A |
T |
5: 111,414,544 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,718,416 (GRCm39) |
I7255N |
unknown |
Het |
| Ttn |
C |
A |
2: 76,652,768 (GRCm39) |
|
probably null |
Het |
| Unc13b |
C |
T |
4: 43,165,791 (GRCm39) |
R204C |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,619,787 (GRCm39) |
|
probably null |
Het |
| Vps53 |
A |
T |
11: 75,937,962 (GRCm39) |
F753I |
probably damaging |
Het |
| Ypel1 |
G |
T |
16: 16,918,124 (GRCm39) |
S97R |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,343,264 (GRCm39) |
T548A |
possibly damaging |
Het |
| Zfp747 |
G |
A |
7: 126,973,672 (GRCm39) |
T166M |
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 |
|
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 |
|
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'- ACCACGCCTCTTTCCTGTAAAAG -3'
(R):5'- GAGCCACCGCATTAAAATAACTGAG -3'
Sequencing Primer
(F):5'- CTTTTAGTGAGCTTACATGAAATGTC -3'
(R):5'- CAGCTCTATGGTTAAGAGCACTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation