Incidental Mutation 'PIT4810001:Nid2'
| ID |
556872 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4810001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
19801333-19861855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19860158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1359
(T1359A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022340]
[ENSMUST00000022341]
|
| AlphaFold |
O88322 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022340
AA Change: T1359A
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: T1359A
| 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 |
|
| Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.1%
- 10x: 85.1%
- 20x: 72.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,822 (GRCm39) |
S105P |
probably damaging |
Het |
| Adtrp |
C |
T |
13: 41,981,724 (GRCm39) |
W48* |
probably null |
Het |
| Agxt2 |
A |
T |
15: 10,399,151 (GRCm39) |
M413L |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,749,214 (GRCm39) |
D211V |
|
Het |
| Aplnr |
T |
A |
2: 84,967,628 (GRCm39) |
C218S |
probably damaging |
Het |
| Arhgdib |
T |
A |
6: 136,901,162 (GRCm39) |
E189V |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,463,596 (GRCm39) |
I1043T |
probably damaging |
Het |
| Atp13a5 |
C |
T |
16: 29,133,382 (GRCm39) |
C468Y |
probably damaging |
Het |
| Cars2 |
A |
T |
8: 11,564,699 (GRCm39) |
C459S |
probably benign |
Het |
| Ccr3 |
T |
A |
9: 123,829,645 (GRCm39) |
Y327N |
probably benign |
Het |
| Ceacam1 |
T |
A |
7: 25,171,400 (GRCm39) |
I355F |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,722,932 (GRCm39) |
L2773P |
probably damaging |
Het |
| Ces2g |
A |
T |
8: 105,691,521 (GRCm39) |
H192L |
possibly damaging |
Het |
| Cfap157 |
A |
G |
2: 32,671,444 (GRCm39) |
F121L |
probably damaging |
Het |
| Champ1 |
G |
A |
8: 13,929,234 (GRCm39) |
S464N |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,735,135 (GRCm39) |
L990Q |
probably damaging |
Het |
| Col6a3 |
A |
T |
1: 90,706,516 (GRCm39) |
L2806Q |
unknown |
Het |
| Cpz |
T |
C |
5: 35,665,536 (GRCm39) |
E435G |
possibly damaging |
Het |
| Crbn |
T |
A |
6: 106,761,440 (GRCm39) |
R233* |
probably null |
Het |
| Ctc1 |
C |
T |
11: 68,913,352 (GRCm39) |
T116I |
probably benign |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,574 (GRCm39) |
S314P |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,065,030 (GRCm39) |
E2625G |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,833,796 (GRCm39) |
R1874* |
probably null |
Het |
| E130311K13Rik |
A |
T |
3: 63,823,122 (GRCm39) |
L174* |
probably null |
Het |
| Etnppl |
A |
G |
3: 130,414,363 (GRCm39) |
D86G |
probably benign |
Het |
| Fbxw18 |
C |
A |
9: 109,505,958 (GRCm39) |
E438* |
probably null |
Het |
| Gpatch8 |
T |
C |
11: 102,372,668 (GRCm39) |
N290S |
unknown |
Het |
| Gpr155 |
A |
C |
2: 73,178,607 (GRCm39) |
L727R |
probably benign |
Het |
| Gpr158 |
C |
G |
2: 21,831,682 (GRCm39) |
D927E |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,225,903 (GRCm39) |
Y2590C |
probably damaging |
Het |
| Ints7 |
A |
G |
1: 191,328,348 (GRCm39) |
D207G |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,647,473 (GRCm39) |
L743P |
probably damaging |
Het |
| Kansl1l |
A |
T |
1: 66,801,308 (GRCm39) |
S553T |
probably damaging |
Het |
| Klhl14 |
G |
T |
18: 21,690,880 (GRCm39) |
Y523* |
probably null |
Het |
| Krtap14 |
A |
G |
16: 88,622,515 (GRCm39) |
S155P |
probably damaging |
Het |
| Lrrc3b |
A |
G |
14: 15,358,273 (GRCm38) |
V111A |
probably benign |
Het |
| Maml2 |
A |
G |
9: 13,531,320 (GRCm39) |
N178S |
|
Het |
| Megf8 |
G |
A |
7: 25,041,710 (GRCm39) |
C1208Y |
probably damaging |
Het |
| Mocos |
A |
G |
18: 24,819,759 (GRCm39) |
D667G |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,007,106 (GRCm39) |
E1357G |
probably damaging |
Het |
| Or2d2 |
A |
T |
7: 106,727,766 (GRCm39) |
M278K |
probably benign |
Het |
| Or4a2 |
A |
T |
2: 89,248,297 (GRCm39) |
H153Q |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,876 (GRCm39) |
F212I |
probably benign |
Het |
| Pign |
A |
G |
1: 105,525,487 (GRCm39) |
V447A |
possibly damaging |
Het |
| Pomp |
T |
C |
5: 147,806,229 (GRCm39) |
L57P |
probably benign |
Het |
| Pou2af2 |
C |
T |
9: 51,202,992 (GRCm39) |
G54D |
possibly damaging |
Het |
| Rbms3 |
T |
A |
9: 116,885,861 (GRCm39) |
Y128F |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,678,228 (GRCm39) |
F322L |
probably benign |
Het |
| Slc16a9 |
T |
A |
10: 70,119,762 (GRCm39) |
C468* |
probably null |
Het |
| Slc22a18 |
A |
G |
7: 143,046,668 (GRCm39) |
I271V |
probably benign |
Het |
| Slc25a41 |
A |
G |
17: 57,346,933 (GRCm39) |
V20A |
possibly damaging |
Het |
| Smim7 |
A |
T |
8: 73,324,857 (GRCm39) |
L6Q |
probably damaging |
Het |
| Snx29 |
T |
C |
16: 11,218,845 (GRCm39) |
V227A |
probably damaging |
Het |
| Sowaha |
A |
T |
11: 53,369,290 (GRCm39) |
L482Q |
probably damaging |
Het |
| Srp19 |
A |
G |
18: 34,467,523 (GRCm39) |
Y68C |
probably damaging |
Het |
| Tecr |
A |
G |
8: 84,298,884 (GRCm39) |
S298P |
probably damaging |
Het |
| Terb2 |
T |
A |
2: 122,035,379 (GRCm39) |
I200N |
probably damaging |
Het |
| Togaram1 |
G |
A |
12: 65,030,286 (GRCm39) |
S1030N |
probably damaging |
Het |
| Trav7n-4 |
A |
G |
14: 53,329,193 (GRCm39) |
M68V |
probably benign |
Het |
| Tshz1 |
A |
C |
18: 84,031,375 (GRCm39) |
L1011R |
possibly damaging |
Het |
| Tubb3 |
A |
G |
8: 124,148,396 (GRCm39) |
E443G |
possibly damaging |
Het |
| Uba5 |
A |
T |
9: 103,932,396 (GRCm39) |
I189K |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,467,909 (GRCm39) |
T619A |
probably benign |
Het |
| Wbp1l |
A |
G |
19: 46,642,761 (GRCm39) |
D254G |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,741,571 (GRCm39) |
F738L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACATGTTGAAATTCTGCCTC -3'
(R):5'- ACCCAATAAACCTGCGGGTG -3'
Sequencing Primer
(F):5'- GAAGGACCTGGCAGCTCATTTTTAC -3'
(R):5'- CCCAATAAACCTGCGGGTGAAATG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation