Incidental Mutation 'IGL01788:Nid2'
| ID |
155141 |
| 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 # |
IGL01788
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
19801333-19861855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19858047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1054
(S1054T)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022340]
[ENSMUST00000022341]
|
| AlphaFold |
O88322 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022340
AA Change: S1287T
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: S1287T
| 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 |
probably benign
Transcript: ENSMUST00000022341
|
| SMART Domains |
Protein: ENSMUSP00000022341
Gene: ENSMUSG00000021807
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RLL
|
2 |
244 |
3.4e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224057
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224263
AA Change: S1054T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
T |
G |
11: 50,982,542 (GRCm39) |
|
noncoding transcript |
Het |
| Acp6 |
A |
G |
3: 97,073,198 (GRCm39) |
T80A |
probably damaging |
Het |
| Adamtsl5 |
T |
C |
10: 80,180,757 (GRCm39) |
T102A |
probably benign |
Het |
| Adcy6 |
C |
A |
15: 98,494,400 (GRCm39) |
E812* |
probably null |
Het |
| Apol6 |
G |
A |
15: 76,935,216 (GRCm39) |
V162I |
possibly damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,220,206 (GRCm39) |
M396K |
possibly damaging |
Het |
| B3gnt8 |
A |
G |
7: 25,328,613 (GRCm39) |
T348A |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,562,672 (GRCm39) |
V869A |
probably benign |
Het |
| Dcaf5 |
A |
T |
12: 80,395,098 (GRCm39) |
I357N |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,749,903 (GRCm39) |
I165V |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,893,631 (GRCm39) |
I982K |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,413,772 (GRCm39) |
H1891L |
probably benign |
Het |
| Fhad1 |
A |
C |
4: 141,660,113 (GRCm39) |
S65R |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,652,996 (GRCm39) |
I1331T |
probably damaging |
Het |
| Fto |
A |
T |
8: 92,136,359 (GRCm39) |
Y211F |
probably benign |
Het |
| Gm3278 |
A |
C |
14: 16,080,370 (GRCm39) |
R60S |
probably benign |
Het |
| Ifna9 |
A |
G |
4: 88,510,097 (GRCm39) |
S176P |
probably damaging |
Het |
| Klk1 |
T |
C |
7: 43,878,407 (GRCm39) |
I189T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,682,419 (GRCm39) |
G519R |
probably damaging |
Het |
| Mcph1 |
G |
A |
8: 18,682,420 (GRCm39) |
G519E |
probably damaging |
Het |
| N4bp1 |
A |
T |
8: 87,587,624 (GRCm39) |
V438E |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,828,423 (GRCm39) |
V58E |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,153,492 (GRCm39) |
Y681F |
probably benign |
Het |
| Or4f57 |
T |
C |
2: 111,791,352 (GRCm39) |
D22G |
probably benign |
Het |
| Or4k15c |
A |
G |
14: 50,321,959 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,770 (GRCm39) |
M146I |
probably benign |
Het |
| Or5b94 |
G |
A |
19: 12,652,442 (GRCm39) |
R291K |
probably damaging |
Het |
| Papln |
A |
T |
12: 83,822,236 (GRCm39) |
T364S |
probably benign |
Het |
| Pcdh18 |
C |
A |
3: 49,710,371 (GRCm39) |
E315* |
probably null |
Het |
| Pmel |
G |
A |
10: 128,553,701 (GRCm39) |
R445Q |
probably damaging |
Het |
| Ppp1r12b |
C |
T |
1: 134,821,245 (GRCm39) |
V182I |
possibly damaging |
Het |
| Ptprn2 |
A |
G |
12: 116,864,607 (GRCm39) |
T541A |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,005,576 (GRCm39) |
N813K |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,609,410 (GRCm39) |
R713L |
probably benign |
Het |
| Slc13a1 |
T |
G |
6: 24,134,371 (GRCm39) |
T171P |
probably damaging |
Het |
| Slc18b1 |
G |
T |
10: 23,701,899 (GRCm39) |
E407D |
probably damaging |
Het |
| Slc2a6 |
G |
A |
2: 26,914,227 (GRCm39) |
Q297* |
probably null |
Het |
| Vmn1r209 |
T |
C |
13: 22,989,832 (GRCm39) |
H286R |
probably damaging |
Het |
| Vmn1r28 |
C |
A |
6: 58,242,522 (GRCm39) |
H122N |
probably benign |
Het |
| Wfs1 |
A |
G |
5: 37,125,980 (GRCm39) |
Y304H |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,230,556 (GRCm39) |
S445P |
possibly damaging |
Het |
|
| Other mutations in Nid2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01783:Nid2
|
APN |
14 |
19,818,745 (GRCm39) |
missense |
probably benign |
|
|
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