Incidental Mutation 'R9193:Nid2'
| ID |
697826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nid2
|
| Ensembl Gene |
ENSMUSG00000021806 |
| Gene Name |
nidogen 2 |
| Synonyms |
entactin 2, entactin-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R9193 (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 C
at 19853278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1166
(S1166P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022340]
|
| AlphaFold |
O88322 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022340
AA Change: S1166P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: S1166P
| 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 |
|
| Meta Mutation Damage Score |
0.0889 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak1 |
A |
T |
2: 32,520,391 (GRCm39) |
K79M |
probably benign |
Het |
| Amy1 |
T |
C |
3: 113,356,278 (GRCm39) |
K293E |
probably benign |
Het |
| Bcl2l10 |
A |
G |
9: 75,255,333 (GRCm39) |
Q50R |
probably benign |
Het |
| Bpifa6 |
G |
A |
2: 153,826,740 (GRCm39) |
G35D |
probably benign |
Het |
| Cachd1 |
C |
A |
4: 100,634,339 (GRCm39) |
P5Q |
unknown |
Het |
| Capn13 |
A |
T |
17: 73,652,191 (GRCm39) |
I266N |
probably damaging |
Het |
| Chil3 |
A |
G |
3: 106,063,081 (GRCm39) |
S170P |
possibly damaging |
Het |
| Ckap4 |
A |
G |
10: 84,363,350 (GRCm39) |
I571T |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,242,964 (GRCm39) |
M371V |
unknown |
Het |
| Dag1 |
A |
G |
9: 108,085,467 (GRCm39) |
L558P |
possibly damaging |
Het |
| Edem3 |
G |
A |
1: 151,694,270 (GRCm39) |
E868K |
probably benign |
Het |
| Eif3k |
T |
C |
7: 28,673,624 (GRCm39) |
Y150C |
probably damaging |
Het |
| Farp1 |
T |
C |
14: 121,518,281 (GRCm39) |
I988T |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,910,248 (GRCm39) |
M1918T |
probably benign |
Het |
| Gba2 |
A |
G |
4: 43,578,112 (GRCm39) |
I79T |
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,179,169 (GRCm39) |
D110G |
probably damaging |
Het |
| Gm57858 |
G |
T |
3: 36,089,428 (GRCm39) |
N165K |
probably benign |
Het |
| H2-M2 |
T |
A |
17: 37,793,428 (GRCm39) |
M193L |
probably benign |
Het |
| H2-T13 |
A |
G |
17: 36,391,956 (GRCm39) |
V39A |
possibly damaging |
Het |
| Ighv7-1 |
T |
A |
12: 113,860,110 (GRCm39) |
D94V |
probably damaging |
Het |
| Il2ra |
T |
C |
2: 11,689,202 (GRCm39) |
F244L |
possibly damaging |
Het |
| Jag1 |
A |
T |
2: 136,931,764 (GRCm39) |
H602Q |
probably null |
Het |
| Kidins220 |
A |
T |
12: 25,036,966 (GRCm39) |
I16F |
possibly damaging |
Het |
| Klb |
A |
G |
5: 65,529,368 (GRCm39) |
T299A |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,951,444 (GRCm39) |
K1063R |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,794,550 (GRCm39) |
E538G |
possibly damaging |
Het |
| Lrrc7 |
A |
T |
3: 158,059,011 (GRCm39) |
L32* |
probably null |
Het |
| Lrrtm3 |
A |
T |
10: 63,765,883 (GRCm39) |
I568N |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,343,295 (GRCm39) |
D164G |
probably damaging |
Het |
| Naaladl2 |
T |
C |
3: 23,900,742 (GRCm39) |
D696G |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,545,792 (GRCm39) |
L1073* |
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,095,621 (GRCm39) |
V833A |
probably benign |
Het |
| Nyap2 |
T |
C |
1: 81,275,712 (GRCm39) |
S619P |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,867,878 (GRCm39) |
M118V |
probably damaging |
Het |
| Or2a20 |
A |
T |
6: 43,194,086 (GRCm39) |
T80S |
probably benign |
Het |
| Or4a71 |
A |
G |
2: 89,357,987 (GRCm39) |
Y256H |
probably damaging |
Het |
| Or8k16 |
C |
A |
2: 85,520,644 (GRCm39) |
Y290* |
probably null |
Het |
| P3h2 |
T |
C |
16: 25,923,991 (GRCm39) |
N148S |
probably benign |
Het |
| P4htm |
A |
G |
9: 108,460,081 (GRCm39) |
M231T |
probably damaging |
Het |
| Pank1 |
T |
A |
19: 34,804,634 (GRCm39) |
K349I |
possibly damaging |
Het |
| Pgam5 |
A |
G |
5: 110,413,466 (GRCm39) |
Y210H |
probably benign |
Het |
| Prb1b |
T |
C |
6: 132,288,996 (GRCm39) |
H276R |
unknown |
Het |
| Prl2a1 |
T |
A |
13: 27,992,535 (GRCm39) |
C220S |
probably damaging |
Het |
| Psca |
C |
T |
15: 74,587,932 (GRCm39) |
Q39* |
probably null |
Het |
| Rgs20 |
A |
T |
1: 5,091,067 (GRCm39) |
M121K |
possibly damaging |
Het |
| S100z |
C |
T |
13: 95,613,883 (GRCm39) |
V76M |
possibly damaging |
Het |
| Slc30a10 |
T |
C |
1: 185,195,034 (GRCm39) |
I282T |
probably damaging |
Het |
| Slc30a3 |
T |
C |
5: 31,246,088 (GRCm39) |
Y214C |
probably damaging |
Het |
| Sox5 |
C |
T |
6: 143,790,570 (GRCm39) |
E497K |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,519 (GRCm39) |
D284G |
probably benign |
Het |
| Sptbn1 |
C |
T |
11: 30,087,551 (GRCm39) |
E963K |
possibly damaging |
Het |
| Srl |
T |
C |
16: 4,311,723 (GRCm39) |
E465G |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,228,304 (GRCm39) |
M1663T |
probably benign |
Het |
| Tas2r119 |
T |
G |
15: 32,177,932 (GRCm39) |
V166G |
probably benign |
Het |
| Tcf7l1 |
A |
G |
6: 72,611,205 (GRCm39) |
V191A |
probably damaging |
Het |
| Thap7 |
A |
T |
16: 17,346,901 (GRCm39) |
I92K |
probably damaging |
Het |
| Tnfsf10 |
A |
G |
3: 27,371,407 (GRCm39) |
T38A |
possibly damaging |
Het |
| Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
| Trim30c |
C |
T |
7: 104,031,553 (GRCm39) |
V421I |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,571,729 (GRCm39) |
M101K |
probably benign |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,565 (GRCm39) |
C104S |
probably damaging |
Het |
| Wdr74 |
T |
A |
19: 8,715,240 (GRCm39) |
V133E |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,580,600 (GRCm39) |
Y33F |
possibly 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 |
|
R8766:Nid2
|
UTSW |
14 |
19,802,340 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9093:Nid2
|
UTSW |
14 |
19,858,009 (GRCm39) |
missense |
|
|
|
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'- ACAGAAGTAACTTTCCTCCCTCTG -3'
(R):5'- CTGCACAGCACTGCATTTCC -3'
Sequencing Primer
(F):5'- TGTCCACCTTCCCACAAACAGG -3'
(R):5'- GCACTGCATTTCCCTCTGAAAAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation