Incidental Mutation 'IGL01783:Nid2'
| ID |
154191 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nid2
|
| Ensembl Gene |
ENSMUSG00000021806 |
| Gene Name |
nidogen 2 |
| Synonyms |
entactin 2, entactin-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
IGL01783
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
19801333-19861855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19818745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 413
(L413P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022340]
|
| AlphaFold |
O88322 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022340
AA Change: L413P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: L413P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Blast:NIDO
|
39 |
77 |
3e-11 |
BLAST |
|
NIDO
|
108 |
276 |
1.12e-72 |
SMART |
|
low complexity region
|
421 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
470 |
N/A |
INTRINSIC |
|
EGF
|
510 |
547 |
1.84e1 |
SMART |
|
G2F
|
548 |
780 |
4.36e-143 |
SMART |
|
EGF
|
785 |
823 |
2.52e-2 |
SMART |
|
EGF_CA
|
824 |
866 |
1.45e-11 |
SMART |
|
EGF
|
874 |
914 |
3.15e-3 |
SMART |
|
EGF_CA
|
915 |
953 |
5.03e-11 |
SMART |
|
TY
|
988 |
1037 |
8.27e-20 |
SMART |
|
TY
|
1068 |
1116 |
1.19e-20 |
SMART |
|
LY
|
1162 |
1204 |
1.15e-5 |
SMART |
|
LY
|
1206 |
1248 |
8.82e-16 |
SMART |
|
LY
|
1249 |
1293 |
1.51e-14 |
SMART |
|
LY
|
1294 |
1336 |
3.56e-11 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224263
AA Change: L147P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225791
|
| 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 member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a null alleleexhibit calcification of joint cartilage and osteoarthritis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
C |
8: 10,037,900 (GRCm39) |
Y166H |
possibly damaging |
Het |
| Abi3bp |
G |
A |
16: 56,353,332 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
T |
C |
3: 30,652,624 (GRCm39) |
T157A |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,974,798 (GRCm39) |
K68R |
probably benign |
Het |
| Adgrg7 |
A |
G |
16: 56,568,282 (GRCm39) |
|
probably null |
Het |
| Ano6 |
T |
C |
15: 95,860,143 (GRCm39) |
I755T |
possibly damaging |
Het |
| Basp1 |
T |
C |
15: 25,364,953 (GRCm39) |
N15D |
unknown |
Het |
| Bod1l |
T |
C |
5: 41,966,055 (GRCm39) |
N2670S |
probably benign |
Het |
| Btbd3 |
T |
A |
2: 138,125,656 (GRCm39) |
I280N |
probably damaging |
Het |
| Cdh16 |
T |
A |
8: 105,344,488 (GRCm39) |
Y17F |
probably damaging |
Het |
| Clmp |
G |
T |
9: 40,693,703 (GRCm39) |
G307W |
possibly damaging |
Het |
| Clrn2 |
C |
A |
5: 45,617,503 (GRCm39) |
Q125K |
probably benign |
Het |
| Ctnna3 |
C |
T |
10: 63,656,248 (GRCm39) |
A276V |
possibly damaging |
Het |
| Dram2 |
A |
T |
3: 106,480,972 (GRCm39) |
T172S |
possibly damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,118,822 (GRCm39) |
|
probably benign |
Het |
| Ezr |
T |
C |
17: 7,009,888 (GRCm39) |
|
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,275,257 (GRCm39) |
D352E |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,198,743 (GRCm39) |
|
probably null |
Het |
| Gpr18 |
T |
A |
14: 122,149,789 (GRCm39) |
M79L |
probably benign |
Het |
| Gss |
T |
C |
2: 155,413,479 (GRCm39) |
Y196C |
probably damaging |
Het |
| Gtpbp1 |
T |
C |
15: 79,600,398 (GRCm39) |
S444P |
probably damaging |
Het |
| Hecw1 |
C |
T |
13: 14,452,878 (GRCm39) |
R712K |
probably damaging |
Het |
| Helz2 |
T |
G |
2: 180,874,674 (GRCm39) |
D1940A |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,491,051 (GRCm39) |
V4166E |
possibly damaging |
Het |
| Klkb1 |
T |
C |
8: 45,729,428 (GRCm39) |
Y297C |
probably damaging |
Het |
| Krt75 |
T |
A |
15: 101,473,364 (GRCm39) |
I537F |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,202,584 (GRCm39) |
T1176S |
probably damaging |
Het |
| Or10ag57 |
T |
A |
2: 87,218,187 (GRCm39) |
M46K |
possibly damaging |
Het |
| Or10ag57 |
G |
T |
2: 87,218,182 (GRCm39) |
L44F |
probably benign |
Het |
| Or4c11 |
T |
C |
2: 88,695,186 (GRCm39) |
L79P |
probably damaging |
Het |
| Or5t7 |
A |
G |
2: 86,507,425 (GRCm39) |
V84A |
probably benign |
Het |
| Piwil1 |
A |
G |
5: 128,820,890 (GRCm39) |
N272D |
probably benign |
Het |
| Ppfia3 |
T |
C |
7: 45,009,481 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
G |
19: 30,602,089 (GRCm39) |
V389A |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,611,767 (GRCm39) |
S344R |
probably damaging |
Het |
| Serpina3j |
T |
C |
12: 104,284,750 (GRCm39) |
L309P |
probably damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,708,688 (GRCm39) |
|
probably null |
Het |
| Sp8 |
G |
T |
12: 118,812,759 (GRCm39) |
A205S |
probably benign |
Het |
| Speer4a1 |
T |
A |
5: 26,240,045 (GRCm39) |
Q235L |
possibly damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,305 (GRCm39) |
T159A |
probably benign |
Het |
| Tbrg1 |
G |
T |
9: 37,565,596 (GRCm39) |
P119T |
possibly damaging |
Het |
| Tmem59l |
T |
C |
8: 70,939,874 (GRCm39) |
T32A |
probably damaging |
Het |
| Trmt13 |
G |
A |
3: 116,376,561 (GRCm39) |
R277* |
probably null |
Het |
| Zfp316 |
A |
G |
5: 143,248,631 (GRCm39) |
F205S |
unknown |
Het |
| Zfp418 |
G |
T |
7: 7,184,448 (GRCm39) |
W137L |
possibly damaging |
Het |
| Zp3r |
A |
T |
1: 130,526,603 (GRCm39) |
V200D |
possibly damaging |
Het |
|
| Other mutations in Nid2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01788:Nid2
|
APN |
14 |
19,858,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02259:Nid2
|
APN |
14 |
19,818,277 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03084:Nid2
|
APN |
14 |
19,819,000 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03247:Nid2
|
APN |
14 |
19,829,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03098:Nid2
|
UTSW |
14 |
19,856,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4810001:Nid2
|
UTSW |
14 |
19,860,158 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0173:Nid2
|
UTSW |
14 |
19,852,400 (GRCm39) |
splice site |
probably benign |
|
|
R0501:Nid2
|
UTSW |
14 |
19,839,736 (GRCm39) |
splice site |
probably null |
|
|
R1117:Nid2
|
UTSW |
14 |
19,813,732 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1305:Nid2
|
UTSW |
14 |
19,818,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1572:Nid2
|
UTSW |
14 |
19,855,480 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1594:Nid2
|
UTSW |
14 |
19,831,329 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1789:Nid2
|
UTSW |
14 |
19,802,499 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1927:Nid2
|
UTSW |
14 |
19,818,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2085:Nid2
|
UTSW |
14 |
19,828,111 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2086:Nid2
|
UTSW |
14 |
19,828,111 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2100:Nid2
|
UTSW |
14 |
19,828,946 (GRCm39) |
nonsense |
probably null |
|
|
R2158:Nid2
|
UTSW |
14 |
19,828,111 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2240:Nid2
|
UTSW |
14 |
19,855,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2314:Nid2
|
UTSW |
14 |
19,839,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2863:Nid2
|
UTSW |
14 |
19,818,471 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3113:Nid2
|
UTSW |
14 |
19,828,111 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3545:Nid2
|
UTSW |
14 |
19,813,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3548:Nid2
|
UTSW |
14 |
19,813,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Nid2
|
UTSW |
14 |
19,860,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Nid2
|
UTSW |
14 |
19,858,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4798:Nid2
|
UTSW |
14 |
19,839,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4953:Nid2
|
UTSW |
14 |
19,828,146 (GRCm39) |
nonsense |
probably null |
|
|
R5256:Nid2
|
UTSW |
14 |
19,818,276 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5289:Nid2
|
UTSW |
14 |
19,855,379 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5302:Nid2
|
UTSW |
14 |
19,829,769 (GRCm39) |
missense |
probably benign |
|
|
R5409:Nid2
|
UTSW |
14 |
19,856,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Nid2
|
UTSW |
14 |
19,852,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6134:Nid2
|
UTSW |
14 |
19,828,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6365:Nid2
|
UTSW |
14 |
19,853,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6647:Nid2
|
UTSW |
14 |
19,852,484 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6758:Nid2
|
UTSW |
14 |
19,852,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6882:Nid2
|
UTSW |
14 |
19,839,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6893:Nid2
|
UTSW |
14 |
19,839,855 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7045:Nid2
|
UTSW |
14 |
19,829,749 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7392:Nid2
|
UTSW |
14 |
19,818,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7477:Nid2
|
UTSW |
14 |
19,856,041 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7515:Nid2
|
UTSW |
14 |
19,841,635 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7547:Nid2
|
UTSW |
14 |
19,847,345 (GRCm39) |
missense |
probably benign |
|
|
R7594:Nid2
|
UTSW |
14 |
19,818,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7615:Nid2
|
UTSW |
14 |
19,852,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7680:Nid2
|
UTSW |
14 |
19,829,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Nid2
|
UTSW |
14 |
19,848,657 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8167:Nid2
|
UTSW |
14 |
19,860,131 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8292:Nid2
|
UTSW |
14 |
19,818,346 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8766:Nid2
|
UTSW |
14 |
19,802,340 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9093:Nid2
|
UTSW |
14 |
19,858,009 (GRCm39) |
missense |
|
|
|
R9193:Nid2
|
UTSW |
14 |
19,853,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF002:Nid2
|
UTSW |
14 |
19,801,434 (GRCm39) |
small deletion |
probably benign |
|
|
RF016:Nid2
|
UTSW |
14 |
19,801,431 (GRCm39) |
small deletion |
probably benign |
|
|
X0009:Nid2
|
UTSW |
14 |
19,852,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Nid2
|
UTSW |
14 |
19,818,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Nid2
|
UTSW |
14 |
19,828,199 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Nid2
|
UTSW |
14 |
19,839,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation