Incidental Mutation 'R6134:Nid2'
ID |
487299 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nid2
|
Ensembl Gene |
ENSMUSG00000021806 |
Gene Name |
nidogen 2 |
Synonyms |
entactin 2, entactin-2 |
MMRRC Submission |
044281-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R6134 (G1)
|
Quality Score |
201.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
19801333-19861855 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19828851 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 565
(V565A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022340]
|
AlphaFold |
O88322 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022340
AA Change: V565A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000022340 Gene: ENSMUSG00000021806 AA Change: V565A
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: V299A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225791
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
94% (51/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
G |
A |
11: 58,767,619 (GRCm39) |
E39K |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Aktip |
T |
A |
8: 91,856,388 (GRCm39) |
S30C |
probably damaging |
Het |
Anxa10 |
G |
T |
8: 62,530,977 (GRCm39) |
H78N |
probably damaging |
Het |
Aoah |
C |
T |
13: 21,095,293 (GRCm39) |
R196W |
probably damaging |
Het |
Arl4c |
A |
T |
1: 88,629,152 (GRCm39) |
W79R |
probably damaging |
Het |
Brd2 |
A |
T |
17: 34,332,669 (GRCm39) |
D178E |
probably benign |
Het |
Cacna1e |
G |
A |
1: 154,577,037 (GRCm39) |
P120L |
probably damaging |
Het |
Cdh16 |
A |
T |
8: 105,342,697 (GRCm39) |
M17K |
probably benign |
Het |
Cdhr17 |
A |
T |
5: 17,029,683 (GRCm39) |
D473V |
probably damaging |
Het |
Chit1 |
A |
G |
1: 134,071,798 (GRCm39) |
T103A |
possibly damaging |
Het |
Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
Coch |
T |
A |
12: 51,649,536 (GRCm39) |
D282E |
probably damaging |
Het |
Col1a2 |
C |
A |
6: 4,538,035 (GRCm39) |
S1181R |
unknown |
Het |
Col6a2 |
T |
C |
10: 76,442,978 (GRCm39) |
D506G |
probably damaging |
Het |
Crx |
A |
T |
7: 15,602,032 (GRCm39) |
Y215* |
probably null |
Het |
Fasn |
A |
T |
11: 120,713,012 (GRCm39) |
S58T |
probably benign |
Het |
Fhip1a |
T |
C |
3: 85,580,651 (GRCm39) |
E518G |
possibly damaging |
Het |
Garem1 |
A |
T |
18: 21,262,881 (GRCm39) |
D644E |
probably benign |
Het |
H2-Q2 |
A |
C |
17: 35,562,217 (GRCm39) |
T155P |
probably damaging |
Het |
Insr |
A |
T |
8: 3,242,572 (GRCm39) |
I49N |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Lnpep |
A |
G |
17: 17,773,454 (GRCm39) |
M639T |
probably benign |
Het |
Lypd11 |
G |
A |
7: 24,425,481 (GRCm39) |
A3V |
probably damaging |
Het |
Map3k20 |
C |
T |
2: 72,240,503 (GRCm39) |
S333F |
probably damaging |
Het |
Miga2 |
A |
G |
2: 30,261,229 (GRCm39) |
S175G |
probably benign |
Het |
Muc3a |
A |
T |
5: 137,244,579 (GRCm39) |
I191N |
probably damaging |
Het |
Ncoa2 |
A |
G |
1: 13,244,595 (GRCm39) |
V701A |
probably damaging |
Het |
Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
Numbl |
G |
C |
7: 26,980,739 (GRCm39) |
A574P |
probably damaging |
Het |
Oas3 |
A |
G |
5: 120,907,113 (GRCm39) |
V508A |
unknown |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Pcdhb21 |
T |
A |
18: 37,647,461 (GRCm39) |
S197T |
probably benign |
Het |
Pck2 |
T |
A |
14: 55,781,419 (GRCm39) |
M180K |
probably damaging |
Het |
Pgr |
T |
C |
9: 8,900,740 (GRCm39) |
V91A |
possibly damaging |
Het |
Phtf1 |
A |
T |
3: 103,911,721 (GRCm39) |
M643L |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,837 (GRCm39) |
T3A |
possibly damaging |
Het |
Ptgs1 |
T |
C |
2: 36,141,190 (GRCm39) |
Y546H |
probably damaging |
Het |
Rasa1 |
A |
G |
13: 85,374,745 (GRCm39) |
L742P |
probably benign |
Het |
Rbbp6 |
T |
C |
7: 122,596,534 (GRCm39) |
|
probably null |
Het |
Rgs22 |
A |
G |
15: 36,107,194 (GRCm39) |
L64P |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,302,296 (GRCm39) |
I407F |
probably damaging |
Het |
Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
Scin |
G |
A |
12: 40,110,578 (GRCm39) |
P690L |
probably damaging |
Het |
Septin9 |
T |
C |
11: 117,242,987 (GRCm39) |
L58P |
probably damaging |
Het |
Slc1a7 |
A |
G |
4: 107,869,633 (GRCm39) |
E566G |
probably damaging |
Het |
Speer4f1 |
G |
A |
5: 17,681,140 (GRCm39) |
R6Q |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,890,986 (GRCm39) |
Y443F |
probably damaging |
Het |
Trpv1 |
A |
G |
11: 73,135,143 (GRCm39) |
I79V |
probably benign |
Het |
Ttll6 |
C |
T |
11: 96,030,568 (GRCm39) |
T245I |
possibly damaging |
Het |
Vmn2r26 |
T |
C |
6: 124,038,444 (GRCm39) |
I673T |
probably damaging |
Het |
Zfp60 |
T |
C |
7: 27,449,323 (GRCm39) |
F664L |
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 |
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 |
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'- AGAGCTTATTGCAAGGAAACCC -3'
(R):5'- AAGCCATTCTCAGAGCCTGG -3'
Sequencing Primer
(F):5'- GCTTATTGCAAGGAAACCCAAACC -3'
(R):5'- TCAGAGCCTGGCTTCTCCAAAG -3'
|
Posted On |
2017-10-10 |