Incidental Mutation 'R7477:Nid2'
| ID |
579577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nid2
|
| Ensembl Gene |
ENSMUSG00000021806 |
| Gene Name |
nidogen 2 |
| Synonyms |
entactin 2, entactin-2 |
| MMRRC Submission |
045551-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R7477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
19801333-19861855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19856041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1255
(D1255E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022340]
|
| AlphaFold |
O88322 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022340
AA Change: D1255E
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: D1255E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
97% (66/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
G |
T |
5: 35,749,447 (GRCm39) |
E191* |
probably null |
Het |
| Adam26a |
T |
A |
8: 44,022,107 (GRCm39) |
E461V |
probably damaging |
Het |
| Adamtsl1 |
G |
A |
4: 86,333,888 (GRCm39) |
R1539Q |
probably damaging |
Het |
| Adipor2 |
A |
T |
6: 119,338,883 (GRCm39) |
H123Q |
probably benign |
Het |
| Akap13 |
C |
T |
7: 75,398,995 (GRCm39) |
S2691L |
probably benign |
Het |
| Aldh1l1 |
T |
C |
6: 90,575,369 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
A |
T |
8: 123,621,124 (GRCm39) |
S909R |
possibly damaging |
Het |
| Bop1 |
T |
C |
15: 76,339,526 (GRCm39) |
E273G |
probably damaging |
Het |
| Car1 |
G |
A |
3: 14,841,343 (GRCm39) |
H97Y |
probably damaging |
Het |
| Casp14 |
T |
C |
10: 78,550,138 (GRCm39) |
N170S |
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,798,555 (GRCm39) |
L382M |
probably damaging |
Het |
| Ccdc18 |
A |
C |
5: 108,368,716 (GRCm39) |
Q1279H |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,410,811 (GRCm39) |
N432S |
probably benign |
Het |
| Ctdp1 |
T |
C |
18: 80,483,929 (GRCm39) |
|
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,916,208 (GRCm39) |
I691T |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,883,557 (GRCm39) |
I2562T |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,356,839 (GRCm39) |
I240F |
probably damaging |
Het |
| Ell |
T |
C |
8: 71,037,868 (GRCm39) |
S308P |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,469,489 (GRCm39) |
D26G |
|
Het |
| Fam171a1 |
T |
C |
2: 3,226,676 (GRCm39) |
V603A |
probably benign |
Het |
| Fam83e |
G |
A |
7: 45,378,404 (GRCm39) |
G476D |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,508,750 (GRCm39) |
|
probably null |
Het |
| Fcer1a |
C |
T |
1: 173,048,851 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
G |
T |
11: 97,226,665 (GRCm39) |
T1830K |
possibly damaging |
Het |
| Grin3a |
G |
A |
4: 49,719,278 (GRCm39) |
P823S |
probably damaging |
Het |
| Heatr4 |
T |
A |
12: 84,026,604 (GRCm39) |
I218F |
probably damaging |
Het |
| Il36rn |
T |
A |
2: 24,169,704 (GRCm39) |
Y21* |
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,330,915 (GRCm39) |
T532A |
probably benign |
Het |
| Klf11 |
A |
G |
12: 24,703,562 (GRCm39) |
D16G |
probably benign |
Het |
| Lrp1 |
T |
A |
10: 127,404,789 (GRCm39) |
I1971F |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,550,301 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
C |
T |
15: 91,696,528 (GRCm39) |
L2439F |
probably damaging |
Het |
| Lypd10 |
A |
G |
7: 24,413,673 (GRCm39) |
T230A |
probably benign |
Het |
| Mapk14 |
G |
A |
17: 28,964,052 (GRCm39) |
D313N |
probably damaging |
Het |
| Max |
A |
T |
12: 76,999,960 (GRCm39) |
S52T |
probably benign |
Het |
| Mrpl23 |
A |
G |
7: 142,091,018 (GRCm39) |
R80G |
possibly damaging |
Het |
| Muc5ac |
C |
A |
7: 141,370,019 (GRCm39) |
N3186K |
possibly damaging |
Het |
| Mylk2 |
G |
A |
2: 152,762,261 (GRCm39) |
V511I |
probably damaging |
Het |
| Mypn |
T |
C |
10: 62,961,500 (GRCm39) |
M1031V |
possibly damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,300,743 (GRCm39) |
T1488A |
probably benign |
Het |
| Ncbp1 |
A |
T |
4: 46,157,897 (GRCm39) |
E378D |
probably damaging |
Het |
| Nedd9 |
A |
T |
13: 41,471,956 (GRCm39) |
D174E |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,782,675 (GRCm39) |
C261R |
probably damaging |
Het |
| Or5w22 |
A |
G |
2: 87,362,431 (GRCm39) |
N18S |
probably benign |
Het |
| Pgam1 |
T |
A |
19: 41,905,255 (GRCm39) |
H196Q |
probably damaging |
Het |
| Pja2 |
A |
C |
17: 64,616,640 (GRCm39) |
V85G |
possibly damaging |
Het |
| Pkd2 |
G |
A |
5: 104,631,108 (GRCm39) |
V511M |
probably benign |
Het |
| Ppp2cb |
T |
A |
8: 34,105,502 (GRCm39) |
S171T |
probably benign |
Het |
| Prkab2 |
T |
C |
3: 97,566,063 (GRCm39) |
F45S |
probably damaging |
Het |
| Rabep2 |
A |
T |
7: 126,043,990 (GRCm39) |
|
probably null |
Het |
| Rnf41 |
T |
A |
10: 128,271,303 (GRCm39) |
I71N |
probably damaging |
Het |
| Slc5a7 |
G |
A |
17: 54,588,787 (GRCm39) |
P287S |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,321,808 (GRCm39) |
D25G |
probably benign |
Het |
| Sptb |
A |
T |
12: 76,675,339 (GRCm39) |
L225Q |
probably damaging |
Het |
| Tenm4 |
A |
C |
7: 96,495,015 (GRCm39) |
I1148L |
probably damaging |
Het |
| Tnk2 |
C |
A |
16: 32,496,709 (GRCm39) |
|
probably null |
Het |
| Trank1 |
G |
A |
9: 111,194,025 (GRCm39) |
S683N |
probably benign |
Het |
| Trp53bp1 |
A |
C |
2: 121,066,827 (GRCm39) |
V633G |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,479 (GRCm39) |
K182E |
possibly damaging |
Het |
| Uncx |
A |
T |
5: 139,533,017 (GRCm39) |
T361S |
probably benign |
Het |
| Vmn2r11 |
A |
T |
5: 109,207,214 (GRCm39) |
N35K |
possibly damaging |
Het |
| Vmn2r4 |
C |
A |
3: 64,305,850 (GRCm39) |
R524L |
probably benign |
Het |
| Vmn2r5 |
C |
T |
3: 64,399,060 (GRCm39) |
V640M |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,410,307 (GRCm39) |
Y632H |
probably damaging |
Het |
| Xkr6 |
T |
C |
14: 63,844,129 (GRCm39) |
S51P |
possibly damaging |
Het |
| Zer1 |
C |
A |
2: 29,997,988 (GRCm39) |
K408N |
probably null |
Het |
| Znhit2 |
A |
G |
19: 6,112,501 (GRCm39) |
|
probably null |
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 |
|
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'- CTGGATTCTGTAAGCTGCTCAG -3'
(R):5'- AATGCTTGACACCCAGCAGC -3'
Sequencing Primer
(F):5'- CAGACGGGGAACTTGATTTCGC -3'
(R):5'- AGCAGCGGGTCTACATATCTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation