Incidental Mutation 'R4618:Nid2'
| ID |
345124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nid2
|
| Ensembl Gene |
ENSMUSG00000021806 |
| Gene Name |
nidogen 2 |
| Synonyms |
entactin 2, entactin-2 |
| MMRRC Submission |
041884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R4618 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
19801333-19861855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19858078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1297
(I1297N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022340]
[ENSMUST00000022341]
|
| AlphaFold |
O88322 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022340
AA Change: I1297N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: I1297N
| 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 |
unknown
Transcript: ENSMUST00000224263
AA Change: I1064N
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225791
|
| Meta Mutation Damage Score |
0.4883 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (89/91) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
T |
3: 121,473,095 (GRCm39) |
K83N |
unknown |
Het |
| Adamtsl3 |
T |
A |
7: 82,255,728 (GRCm39) |
M1580K |
probably benign |
Het |
| Adprhl1 |
A |
G |
8: 13,292,250 (GRCm39) |
|
probably null |
Het |
| Akap3 |
G |
T |
6: 126,843,406 (GRCm39) |
C675F |
probably benign |
Het |
| Asap1 |
A |
T |
15: 64,024,744 (GRCm39) |
H318Q |
probably damaging |
Het |
| Atf7ip |
G |
T |
6: 136,542,104 (GRCm39) |
A18S |
probably damaging |
Het |
| Bcl2a1a |
A |
C |
9: 88,839,357 (GRCm39) |
N85T |
probably damaging |
Het |
| Btnl6 |
G |
A |
17: 34,733,120 (GRCm39) |
P248S |
probably damaging |
Het |
| C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,526,865 (GRCm39) |
C257S |
probably benign |
Het |
| Cd5l |
A |
G |
3: 87,275,926 (GRCm39) |
T299A |
probably benign |
Het |
| Cstdc3 |
T |
A |
16: 36,132,952 (GRCm39) |
D76E |
possibly damaging |
Het |
| Endou |
C |
T |
15: 97,611,763 (GRCm39) |
V292M |
possibly damaging |
Het |
| Fbxo36 |
T |
C |
1: 84,877,749 (GRCm39) |
I137T |
probably damaging |
Het |
| Fcer1a |
T |
C |
1: 173,050,208 (GRCm39) |
I161V |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,818,103 (GRCm39) |
Y4612C |
probably benign |
Het |
| Gcnt2 |
T |
A |
13: 41,111,670 (GRCm39) |
L353* |
probably null |
Het |
| Ghrhr |
T |
C |
6: 55,358,739 (GRCm39) |
F172S |
probably damaging |
Het |
| Gins1 |
T |
A |
2: 150,759,781 (GRCm39) |
|
probably null |
Het |
| Gm16519 |
T |
G |
17: 71,236,237 (GRCm39) |
L62R |
probably damaging |
Het |
| Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,498,965 (GRCm39) |
T283A |
probably benign |
Het |
| Grin2c |
T |
A |
11: 115,143,573 (GRCm39) |
D729V |
probably damaging |
Het |
| Heatr4 |
T |
G |
12: 84,024,841 (GRCm39) |
T327P |
probably damaging |
Het |
| Hes2 |
A |
C |
4: 152,244,845 (GRCm39) |
S105R |
probably benign |
Het |
| Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
| Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,651,788 (GRCm39) |
D851E |
probably benign |
Het |
| Klhdc7b |
A |
G |
15: 89,271,472 (GRCm39) |
T785A |
probably benign |
Het |
| Lmbr1 |
G |
T |
5: 29,551,863 (GRCm39) |
A74E |
probably damaging |
Het |
| Lonp1 |
A |
C |
17: 56,929,511 (GRCm39) |
H175Q |
probably benign |
Het |
| Maml2 |
T |
C |
9: 13,531,371 (GRCm39) |
F195S |
probably damaging |
Het |
| Man2b2 |
G |
T |
5: 36,974,983 (GRCm39) |
T436K |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,049,439 (GRCm39) |
|
probably null |
Het |
| Mrps15 |
G |
A |
4: 125,940,837 (GRCm39) |
|
probably benign |
Het |
| Mtrf1l |
C |
A |
10: 5,767,586 (GRCm39) |
V177F |
probably benign |
Het |
| Naxd |
A |
T |
8: 11,559,489 (GRCm39) |
I213F |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,267,890 (GRCm39) |
|
probably benign |
Het |
| Nfatc1 |
T |
C |
18: 80,741,047 (GRCm39) |
I318V |
probably damaging |
Het |
| Nol10 |
T |
C |
12: 17,398,562 (GRCm39) |
V3A |
probably damaging |
Het |
| Nop14 |
G |
T |
5: 34,796,562 (GRCm39) |
P765Q |
probably damaging |
Het |
| Noxa1 |
C |
T |
2: 24,981,761 (GRCm39) |
G114D |
probably damaging |
Het |
| Ntmt2 |
A |
T |
1: 163,552,597 (GRCm39) |
F10I |
probably damaging |
Het |
| Opa1 |
T |
C |
16: 29,405,857 (GRCm39) |
W141R |
probably damaging |
Het |
| Or10a2 |
G |
A |
7: 106,673,761 (GRCm39) |
C242Y |
probably damaging |
Het |
| Or13p4 |
A |
T |
4: 118,546,667 (GRCm39) |
|
probably benign |
Het |
| Or5d18 |
A |
G |
2: 87,864,898 (GRCm39) |
V195A |
probably benign |
Het |
| Or8h10 |
A |
G |
2: 86,808,618 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pde4d |
A |
T |
13: 110,070,411 (GRCm39) |
M7L |
probably benign |
Het |
| Phykpl |
G |
A |
11: 51,483,056 (GRCm39) |
A188T |
probably damaging |
Het |
| Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,403,078 (GRCm39) |
V2260D |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,395,765 (GRCm39) |
E1136G |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,833,420 (GRCm39) |
L353Q |
probably damaging |
Het |
| Rfx4 |
G |
T |
10: 84,716,760 (GRCm39) |
A425S |
probably benign |
Het |
| Rnf38 |
A |
G |
4: 44,142,450 (GRCm39) |
S169P |
probably damaging |
Het |
| Samd9l |
C |
A |
6: 3,376,347 (GRCm39) |
V305F |
probably damaging |
Het |
| Serpini1 |
A |
G |
3: 75,523,883 (GRCm39) |
K164E |
probably benign |
Het |
| Sirt6 |
A |
G |
10: 81,462,408 (GRCm39) |
L37P |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,361,962 (GRCm39) |
T141A |
probably damaging |
Het |
| Tacc2 |
A |
T |
7: 130,227,946 (GRCm39) |
T1563S |
probably benign |
Het |
| Tbc1d14 |
A |
C |
5: 36,687,725 (GRCm39) |
|
probably benign |
Het |
| Tbrg4 |
G |
A |
11: 6,570,185 (GRCm39) |
|
probably benign |
Het |
| Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,400,913 (GRCm39) |
L38Q |
probably benign |
Het |
| Trhr |
A |
G |
15: 44,061,037 (GRCm39) |
N186D |
probably benign |
Het |
| Trmt1l |
C |
T |
1: 151,329,799 (GRCm39) |
Q581* |
probably null |
Het |
| Tsen54 |
T |
A |
11: 115,706,247 (GRCm39) |
|
probably benign |
Het |
| Tsg101 |
A |
G |
7: 46,542,257 (GRCm39) |
I138T |
possibly damaging |
Het |
| Usp22 |
A |
G |
11: 61,052,269 (GRCm39) |
S237P |
probably damaging |
Het |
| Vmn1r209 |
A |
G |
13: 22,990,619 (GRCm39) |
S24P |
possibly damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,424 (GRCm39) |
H233Q |
possibly damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,436 (GRCm39) |
I284N |
probably benign |
Het |
| Vmn2r66 |
T |
C |
7: 84,644,296 (GRCm39) |
I705V |
possibly damaging |
Het |
| Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
| Zdhhc11 |
T |
A |
13: 74,127,349 (GRCm39) |
M242K |
probably benign |
Het |
| Zfp352 |
A |
G |
4: 90,113,318 (GRCm39) |
K486R |
probably benign |
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 |
|
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'- AGCGATGCTGAAGGTTATACATTC -3'
(R):5'- AGATCTGGTATATTCTGTGCTGAC -3'
Sequencing Primer
(F):5'- GGTTATACATTCGAAACAAGAGCC -3'
(R):5'- TCTGTGCTGACTGAAATTTAAACG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation