Incidental Mutation 'R2158:Nid2'
ID |
235009 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nid2
|
Ensembl Gene |
ENSMUSG00000021806 |
Gene Name |
nidogen 2 |
Synonyms |
entactin 2, entactin-2 |
MMRRC Submission |
040161-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R2158 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
19801333-19861855 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 19828111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 516
(G516S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022340]
|
AlphaFold |
O88322 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022340
AA Change: G516S
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000022340 Gene: ENSMUSG00000021806 AA Change: G516S
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: G250S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225791
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (59/59) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
T |
C |
19: 3,766,608 (GRCm39) |
V65A |
possibly damaging |
Het |
4930402F06Rik |
A |
T |
2: 35,275,680 (GRCm39) |
S38T |
possibly damaging |
Het |
Adam4 |
A |
G |
12: 81,468,537 (GRCm39) |
L28S |
probably damaging |
Het |
Agmo |
T |
A |
12: 37,407,709 (GRCm39) |
F198I |
probably damaging |
Het |
Akap7 |
A |
G |
10: 25,047,062 (GRCm39) |
V45A |
probably damaging |
Het |
Amotl1 |
G |
T |
9: 14,486,465 (GRCm39) |
N476K |
probably benign |
Het |
Apcs |
A |
G |
1: 172,722,100 (GRCm39) |
L82P |
probably damaging |
Het |
Armc3 |
C |
A |
2: 19,253,444 (GRCm39) |
P195Q |
probably damaging |
Het |
Astn2 |
A |
T |
4: 66,322,491 (GRCm39) |
L36Q |
unknown |
Het |
Atad2 |
A |
T |
15: 57,961,962 (GRCm39) |
S870T |
possibly damaging |
Het |
Bmp10 |
A |
T |
6: 87,411,062 (GRCm39) |
D285V |
probably benign |
Het |
Caskin1 |
T |
C |
17: 24,724,128 (GRCm39) |
V972A |
probably benign |
Het |
Ccdc141 |
T |
A |
2: 76,861,015 (GRCm39) |
N921Y |
probably damaging |
Het |
Cntnap5b |
A |
T |
1: 100,318,297 (GRCm39) |
D1019V |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,810,205 (GRCm39) |
|
probably benign |
Het |
Evi5l |
T |
C |
8: 4,243,195 (GRCm39) |
Y360H |
probably damaging |
Het |
Ewsr1 |
A |
G |
11: 5,041,450 (GRCm39) |
|
probably benign |
Het |
Fn3k |
A |
T |
11: 121,339,712 (GRCm39) |
N158I |
probably damaging |
Het |
Galnt17 |
C |
T |
5: 130,935,540 (GRCm39) |
R381Q |
probably damaging |
Het |
Golga3 |
A |
T |
5: 110,335,227 (GRCm39) |
K180N |
probably damaging |
Het |
Hipk1 |
A |
G |
3: 103,667,854 (GRCm39) |
L571P |
probably damaging |
Het |
Hormad2 |
T |
A |
11: 4,374,808 (GRCm39) |
K69* |
probably null |
Het |
Hspg2 |
A |
T |
4: 137,244,915 (GRCm39) |
D880V |
probably damaging |
Het |
Ido2 |
T |
A |
8: 25,030,652 (GRCm39) |
D226V |
probably damaging |
Het |
Irs3 |
A |
G |
5: 137,642,961 (GRCm39) |
F159S |
probably damaging |
Het |
Itgb1bp1 |
T |
C |
12: 21,326,860 (GRCm39) |
T38A |
probably damaging |
Het |
Kif11 |
A |
G |
19: 37,399,062 (GRCm39) |
I749V |
probably benign |
Het |
Lrp1b |
T |
G |
2: 40,769,567 (GRCm39) |
M2811L |
probably benign |
Het |
Lysmd3 |
A |
G |
13: 81,817,737 (GRCm39) |
Y238C |
probably damaging |
Het |
Mapk11 |
G |
A |
15: 89,030,575 (GRCm39) |
T106M |
probably damaging |
Het |
Mdga2 |
C |
T |
12: 66,736,155 (GRCm39) |
V358I |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,754,563 (GRCm38) |
T1479I |
probably benign |
Het |
Myom1 |
T |
C |
17: 71,371,592 (GRCm39) |
V578A |
possibly damaging |
Het |
Nek10 |
T |
G |
14: 14,885,047 (GRCm38) |
|
probably null |
Het |
Or2t47 |
T |
A |
11: 58,442,768 (GRCm39) |
Q99L |
probably damaging |
Het |
Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
Or51a24 |
T |
G |
7: 103,734,033 (GRCm39) |
T85P |
probably benign |
Het |
Or51v14 |
G |
C |
7: 103,261,443 (GRCm39) |
T39R |
possibly damaging |
Het |
Or52a5b |
G |
T |
7: 103,417,168 (GRCm39) |
C145* |
probably null |
Het |
Or8d23 |
T |
C |
9: 38,841,875 (GRCm39) |
M136T |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,664,937 (GRCm39) |
C333S |
probably benign |
Het |
Pglyrp2 |
T |
A |
17: 32,637,222 (GRCm39) |
I269F |
probably benign |
Het |
Plch1 |
A |
G |
3: 63,628,655 (GRCm39) |
V536A |
probably benign |
Het |
Popdc2 |
T |
A |
16: 38,183,188 (GRCm39) |
L57Q |
probably damaging |
Het |
Pramel14 |
T |
C |
4: 143,720,885 (GRCm39) |
R19G |
possibly damaging |
Het |
Riox1 |
A |
G |
12: 83,997,709 (GRCm39) |
K82E |
probably benign |
Het |
Rnasel |
G |
A |
1: 153,630,647 (GRCm39) |
V388M |
probably damaging |
Het |
Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
Snx25 |
A |
G |
8: 46,494,444 (GRCm39) |
S814P |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,056,824 (GRCm39) |
H1859L |
probably benign |
Het |
Strc |
T |
C |
2: 121,196,343 (GRCm39) |
I1562V |
probably benign |
Het |
Taar5 |
T |
A |
10: 23,846,986 (GRCm39) |
I128N |
probably damaging |
Het |
Ttc28 |
C |
T |
5: 111,325,483 (GRCm39) |
|
probably benign |
Het |
Vcan |
A |
T |
13: 89,851,648 (GRCm39) |
M1104K |
possibly damaging |
Het |
Vnn1 |
C |
T |
10: 23,776,653 (GRCm39) |
Q335* |
probably null |
Het |
Zic1 |
T |
C |
9: 91,246,946 (GRCm39) |
D42G |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTGAATGTTATTCCCATCTTTG -3'
(R):5'- TGCTGGGATTCAGGCATCAG -3'
Sequencing Primer
(F):5'- GAATGTTATTCCCATCTTTGTAGCG -3'
(R):5'- CTGGGATTCAGGCATCAGAGATG -3'
|
Posted On |
2014-10-01 |