Incidental Mutation 'R2240:Nid2'
| ID |
240339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nid2
|
| Ensembl Gene |
ENSMUSG00000021806 |
| Gene Name |
nidogen 2 |
| Synonyms |
entactin 2, entactin-2 |
| MMRRC Submission |
040240-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R2240 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
19801333-19861855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 19855982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 1236
(D1236N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022340]
|
| AlphaFold |
O88322 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022340
AA Change: D1236N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: D1236N
| 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 |
noncoding transcript
Transcript: ENSMUST00000224057
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224263
AA Change: D970N
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225791
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,595,417 (GRCm39) |
I318N |
probably damaging |
Het |
| Abl1 |
A |
G |
2: 31,690,517 (GRCm39) |
K679E |
probably benign |
Het |
| Actr8 |
A |
G |
14: 29,711,714 (GRCm39) |
H420R |
possibly damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,805,102 (GRCm39) |
V897D |
probably benign |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bicc1 |
A |
G |
10: 70,782,633 (GRCm39) |
|
probably null |
Het |
| Brd4 |
T |
C |
17: 32,432,613 (GRCm39) |
|
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,815,514 (GRCm39) |
E184G |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,169,032 (GRCm39) |
S240G |
possibly damaging |
Het |
| Cbx7 |
C |
A |
15: 79,802,558 (GRCm39) |
A240S |
probably damaging |
Het |
| Ccdc181 |
A |
T |
1: 164,107,596 (GRCm39) |
D93V |
probably damaging |
Het |
| Ces2g |
A |
C |
8: 105,689,134 (GRCm39) |
S37R |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,714,746 (GRCm39) |
R624W |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,531,696 (GRCm39) |
K703E |
probably benign |
Het |
| Clec2h |
T |
C |
6: 128,652,845 (GRCm39) |
V204A |
probably benign |
Het |
| Cltb |
T |
C |
13: 54,746,967 (GRCm39) |
N3S |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,218,582 (GRCm39) |
I65V |
unknown |
Het |
| D430041D05Rik |
C |
T |
2: 103,987,161 (GRCm39) |
R1895Q |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,021,931 (GRCm39) |
S1191G |
probably benign |
Het |
| Ehf |
G |
A |
2: 103,104,420 (GRCm39) |
P163S |
probably benign |
Het |
| Fam170b |
A |
C |
14: 32,557,825 (GRCm39) |
H220P |
probably damaging |
Het |
| Fastkd1 |
G |
A |
2: 69,527,297 (GRCm39) |
T598I |
probably benign |
Het |
| Fignl2 |
C |
T |
15: 100,951,916 (GRCm39) |
G122D |
probably damaging |
Het |
| Foxp4 |
C |
A |
17: 48,182,201 (GRCm39) |
V530L |
unknown |
Het |
| Gcnt1 |
G |
T |
19: 17,306,695 (GRCm39) |
D343E |
possibly damaging |
Het |
| Gja8 |
T |
G |
3: 96,827,618 (GRCm39) |
N15H |
probably benign |
Het |
| Gm128 |
T |
C |
3: 95,148,243 (GRCm39) |
E17G |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,293,571 (GRCm39) |
V252A |
probably benign |
Het |
| Gpld1 |
G |
A |
13: 25,166,490 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
A |
G |
11: 97,242,559 (GRCm39) |
L95P |
probably damaging |
Het |
| Gtf2a1 |
A |
T |
12: 91,553,513 (GRCm39) |
D31E |
possibly damaging |
Het |
| Il12a |
T |
A |
3: 68,601,517 (GRCm39) |
Y58* |
probably null |
Het |
| Il1r2 |
T |
C |
1: 40,144,630 (GRCm39) |
W106R |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,543,488 (GRCm39) |
S374G |
probably benign |
Het |
| Mafb |
A |
T |
2: 160,207,947 (GRCm39) |
V217E |
probably damaging |
Het |
| Mapk13 |
T |
A |
17: 28,997,085 (GRCm39) |
D292E |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,433,209 (GRCm39) |
D871G |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,765,701 (GRCm39) |
T5220K |
possibly damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,699,978 (GRCm39) |
I723M |
probably damaging |
Het |
| Mia2 |
G |
A |
12: 59,154,668 (GRCm39) |
S127N |
probably benign |
Het |
| Mpeg1 |
A |
C |
19: 12,440,402 (GRCm39) |
E620A |
probably damaging |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,389 (GRCm39) |
F54Y |
probably damaging |
Het |
| Mtx2 |
A |
G |
2: 74,699,696 (GRCm39) |
I156V |
probably benign |
Het |
| Neurog1 |
T |
C |
13: 56,399,348 (GRCm39) |
E133G |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,491,288 (GRCm39) |
T213A |
probably benign |
Het |
| Or7e173 |
A |
G |
9: 19,938,440 (GRCm39) |
S265P |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,890,453 (GRCm39) |
M1V |
probably null |
Het |
| Pde4dip |
C |
T |
3: 97,631,480 (GRCm39) |
R1143K |
probably benign |
Het |
| Pgam2 |
T |
C |
11: 5,753,265 (GRCm39) |
|
probably benign |
Het |
| Plec |
T |
C |
15: 76,090,250 (GRCm39) |
D30G |
probably damaging |
Het |
| Pramel5 |
C |
A |
4: 143,999,506 (GRCm39) |
E194* |
probably null |
Het |
| Prss22 |
T |
A |
17: 24,215,755 (GRCm39) |
S56C |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,778,406 (GRCm39) |
N216S |
probably benign |
Het |
| Rasgrf1 |
A |
T |
9: 89,858,815 (GRCm39) |
E491V |
probably damaging |
Het |
| Rbbp8 |
C |
T |
18: 11,810,726 (GRCm39) |
T76I |
probably damaging |
Het |
| Rtn2 |
G |
A |
7: 19,020,754 (GRCm39) |
|
probably null |
Het |
| Sdr39u1 |
A |
T |
14: 56,137,124 (GRCm39) |
N62K |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,507,071 (GRCm39) |
V342A |
probably damaging |
Het |
| Slc49a3 |
A |
G |
5: 108,592,573 (GRCm39) |
S234P |
probably benign |
Het |
| Snx30 |
G |
T |
4: 59,886,515 (GRCm39) |
C308F |
probably damaging |
Het |
| Timd2 |
A |
T |
11: 46,569,043 (GRCm39) |
V205E |
probably benign |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tnfaip6 |
G |
A |
2: 51,940,926 (GRCm39) |
D156N |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,232,461 (GRCm39) |
E1463D |
probably damaging |
Het |
| Urb2 |
C |
A |
8: 124,756,878 (GRCm39) |
P862T |
probably benign |
Het |
| Vmn1r64 |
A |
T |
7: 5,887,369 (GRCm39) |
L58* |
probably null |
Het |
| Vmn2r3 |
C |
A |
3: 64,166,483 (GRCm39) |
G883C |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,837,465 (GRCm39) |
C2707S |
possibly damaging |
Het |
| Wdr11 |
G |
T |
7: 129,207,418 (GRCm39) |
|
probably null |
Het |
| Wdr37 |
T |
A |
13: 8,911,268 (GRCm39) |
|
probably benign |
Het |
| Wtap |
G |
A |
17: 13,194,352 (GRCm39) |
Q95* |
probably null |
Het |
| Zfp26 |
A |
T |
9: 20,348,563 (GRCm39) |
L667H |
probably damaging |
Het |
| Zfp268 |
C |
T |
4: 145,311,891 (GRCm39) |
|
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 |
|
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'- GTCCAGCACAGAAGAGACTG -3'
(R):5'- CCCATGACATATATAAGAGCCAGG -3'
Sequencing Primer
(F):5'- AAAAAGTTAGCCTTCGTCCTGGG -3'
(R):5'- TGACATATATAAGAGCCAGGGTCTCC -3'
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| Posted On |
2014-10-15 |
Incidental Mutation