Incidental Mutation 'R8766:Nid2'
| ID |
667901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nid2
|
| Ensembl Gene |
ENSMUSG00000021806 |
| Gene Name |
nidogen 2 |
| Synonyms |
entactin 2, entactin-2 |
| MMRRC Submission |
068600-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R8766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
19801333-19861855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19802340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 87
(D87G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022340]
|
| AlphaFold |
O88322 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022340
AA Change: D87G
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: D87G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
T |
G |
12: 71,001,430 (GRCm39) |
|
probably null |
Het |
| Amz1 |
A |
G |
5: 140,733,921 (GRCm39) |
N166D |
probably benign |
Het |
| Armh4 |
T |
A |
14: 50,011,497 (GRCm39) |
N70I |
probably damaging |
Het |
| Asah2 |
A |
G |
19: 32,035,280 (GRCm39) |
F15S |
possibly damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,657 (GRCm39) |
M182V |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,002,881 (GRCm39) |
L326P |
probably damaging |
Het |
| Ccdc169 |
T |
C |
3: 55,058,245 (GRCm39) |
|
probably null |
Het |
| Cct8 |
A |
T |
16: 87,285,756 (GRCm39) |
V234D |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,817,844 (GRCm39) |
R633G |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,714,939 (GRCm39) |
|
probably benign |
Het |
| Crat |
G |
A |
2: 30,297,075 (GRCm39) |
P293S |
probably benign |
Het |
| Crybg3 |
G |
A |
16: 59,375,696 (GRCm39) |
R139C |
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,165,588 (GRCm39) |
N301S |
possibly damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,967,262 (GRCm39) |
H438R |
probably damaging |
Het |
| Dglucy |
C |
A |
12: 100,837,706 (GRCm39) |
H616Q |
probably benign |
Het |
| Dync1i1 |
T |
A |
6: 5,767,142 (GRCm39) |
L74Q |
possibly damaging |
Het |
| Epn1 |
T |
C |
7: 5,095,860 (GRCm39) |
S167P |
possibly damaging |
Het |
| Fbxw28 |
T |
C |
9: 109,155,749 (GRCm39) |
E341G |
probably benign |
Het |
| Gk2 |
T |
A |
5: 97,604,110 (GRCm39) |
M243L |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,300,724 (GRCm39) |
E4D |
probably benign |
Het |
| Hsd17b13 |
T |
C |
5: 104,125,009 (GRCm39) |
K58R |
probably benign |
Het |
| Ighd5-7 |
G |
A |
12: 113,428,148 (GRCm39) |
Q9* |
probably null |
Het |
| Izumo1 |
G |
A |
7: 45,276,496 (GRCm39) |
S353N |
probably benign |
Het |
| Klhl31 |
T |
C |
9: 77,557,445 (GRCm39) |
S54P |
possibly damaging |
Het |
| Lonp2 |
T |
C |
8: 87,363,198 (GRCm39) |
M272T |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,603,250 (GRCm39) |
C682* |
probably null |
Het |
| Magi2 |
A |
G |
5: 20,400,123 (GRCm39) |
K52E |
probably benign |
Het |
| Nab2 |
C |
T |
10: 127,502,417 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
T |
A |
12: 116,390,356 (GRCm39) |
V435D |
probably damaging |
Het |
| Or10a3 |
A |
G |
7: 108,480,453 (GRCm39) |
M120T |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,485 (GRCm39) |
M143V |
probably benign |
Het |
| Pamr1 |
T |
C |
2: 102,380,538 (GRCm39) |
M1T |
probably null |
Het |
| Pard3b |
T |
C |
1: 62,198,637 (GRCm39) |
C242R |
probably benign |
Het |
| Pcif1 |
T |
A |
2: 164,727,346 (GRCm39) |
V106E |
probably benign |
Het |
| Pitx2 |
T |
A |
3: 129,012,223 (GRCm39) |
F218I |
probably damaging |
Het |
| Ppip5k1 |
G |
T |
2: 121,166,919 (GRCm39) |
Y877* |
probably null |
Het |
| Prkch |
A |
G |
12: 73,749,312 (GRCm39) |
N354S |
probably benign |
Het |
| Psen2 |
T |
A |
1: 180,073,201 (GRCm39) |
D40V |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,524,021 (GRCm39) |
S404T |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,683,855 (GRCm39) |
T3070S |
probably damaging |
Het |
| Slc24a4 |
A |
G |
12: 102,196,711 (GRCm39) |
D263G |
probably benign |
Het |
| Tox |
T |
C |
4: 6,823,047 (GRCm39) |
E90G |
probably damaging |
Het |
| Unc13b |
C |
T |
4: 43,174,722 (GRCm39) |
S1850L |
unknown |
Het |
| Vmn1r5 |
T |
A |
6: 56,963,100 (GRCm39) |
D258E |
possibly damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,222,241 (GRCm39) |
V660M |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,988,423 (GRCm39) |
R68H |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,674,353 (GRCm39) |
H439L |
probably benign |
Het |
| Zfp775 |
A |
T |
6: 48,597,113 (GRCm39) |
H329L |
probably damaging |
Het |
| Zswim5 |
T |
C |
4: 116,816,004 (GRCm39) |
L364P |
probably 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 |
|
|
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 |
|
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'- GCGACCACCACTATTTTGACC -3'
(R):5'- ATTCAGCTGCAGGGTATCCC -3'
Sequencing Primer
(F):5'- TAAAAATGTTGGGGATTCACGTGCC -3'
(R):5'- ACTGACCTCCTCGTAGGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation