Incidental Mutation 'RF002:Nid2'
| ID |
602579 |
| 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 # |
RF002 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
19801333-19861855 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (3 aa in frame mutation) |
| DNA Base Change (assembly) |
TAACACCGCCA to TA
at 19801434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022340]
|
| AlphaFold |
O88322 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022340
|
| SMART Domains |
Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
CGG |
CGGTGG |
19: 5,475,262 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCTGC |
19: 5,475,263 (GRCm39) |
|
probably benign |
Het |
| Angptl1 |
A |
T |
1: 156,684,794 (GRCm39) |
Q321L |
possibly damaging |
Het |
| AY358078 |
T |
TAGGATAATGC |
14: 52,043,050 (GRCm39) |
|
probably null |
Het |
| Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,653 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTC |
CTCATCCTCCTCATC |
7: 80,162,675 (GRCm39) |
|
probably benign |
Het |
| Car13 |
T |
C |
3: 14,719,974 (GRCm39) |
Y129H |
probably damaging |
Het |
| Cd109 |
TTATTTATTTAT |
TTATTTATTTATGTATTTATTTAT |
9: 78,619,805 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
TATTTAT |
TATTTATTTATTCATTTAT |
9: 78,619,810 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,108,424 (GRCm39) |
C341R |
probably damaging |
Het |
| Chga |
GCA |
GCACCA |
12: 102,527,680 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
T |
3: 114,010,650 (GRCm39) |
I1689L |
unknown |
Het |
| Dnah6 |
T |
G |
6: 73,078,872 (GRCm39) |
S2364R |
probably benign |
Het |
| E4f1 |
CCG |
CCGACG |
17: 24,674,160 (GRCm39) |
|
probably benign |
Het |
| Fah |
A |
C |
7: 84,238,836 (GRCm39) |
N336K |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,303,481 (GRCm39) |
I664K |
|
Het |
| Fcgbp |
A |
G |
7: 27,789,180 (GRCm39) |
D582G |
probably benign |
Het |
| Gabre |
C |
CCGGCTA |
X: 71,313,663 (GRCm39) |
|
probably null |
Het |
| Garin5a |
CCTGGGTCTGAGGGAGGA |
CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA |
7: 44,149,944 (GRCm39) |
|
probably null |
Het |
| Gm1110 |
A |
G |
9: 26,831,936 (GRCm39) |
Y72H |
probably damaging |
Het |
| Inpp5e |
C |
T |
2: 26,298,389 (GRCm39) |
A71T |
possibly damaging |
Het |
| Iqcm |
C |
T |
8: 76,304,527 (GRCm39) |
T96I |
probably benign |
Het |
| Lce1m |
TGCCACCGCTGC |
TGCCACCGCTGCCGCCACCGCTGC |
3: 92,925,590 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
AC |
ACCGCCGCTGCCCC |
3: 92,925,606 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
TTGGTGGTGCTGGTGG |
TTGGTGG |
14: 75,185,014 (GRCm39) |
|
probably benign |
Het |
| Lyst |
A |
G |
13: 13,808,948 (GRCm39) |
D206G |
probably benign |
Het |
| Map4k5 |
A |
T |
12: 69,903,630 (GRCm39) |
D58E |
probably damaging |
Het |
| Mapkapk2 |
A |
G |
1: 130,984,250 (GRCm39) |
S251P |
probably damaging |
Het |
| Mcph1 |
CCTG |
CCTGCTG |
8: 18,702,545 (GRCm39) |
|
probably benign |
Het |
| Men1 |
T |
C |
19: 6,390,146 (GRCm39) |
S600P |
probably damaging |
Het |
| Mllt1 |
C |
T |
17: 57,203,300 (GRCm39) |
V394M |
probably benign |
Het |
| Mllt1 |
C |
A |
17: 57,203,301 (GRCm39) |
M393I |
possibly damaging |
Het |
| Nacc1 |
T |
C |
8: 85,402,848 (GRCm39) |
E315G |
possibly damaging |
Het |
| Nefh |
GGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTAGGGACTTGGCCTC |
11: 4,891,047 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTC |
GACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,050 (GRCm39) |
|
probably benign |
Het |
| Or5b122 |
T |
A |
19: 13,563,415 (GRCm39) |
I206N |
probably damaging |
Het |
| Parp2 |
A |
G |
14: 51,054,843 (GRCm39) |
E262G |
probably damaging |
Het |
| Pdik1l |
TTT |
TTTGTTTTTGTGTT |
4: 134,006,686 (GRCm39) |
|
probably null |
Het |
| Pop1 |
G |
A |
15: 34,502,583 (GRCm39) |
G90D |
probably damaging |
Het |
| Ppp3cc |
T |
C |
14: 70,504,788 (GRCm39) |
T73A |
possibly damaging |
Het |
| Prdm15 |
C |
T |
16: 97,600,829 (GRCm39) |
D810N |
probably damaging |
Het |
| Prpf4b |
T |
A |
13: 35,068,219 (GRCm39) |
S349R |
unknown |
Het |
| Rassf6 |
TCCTGTAGAGCAATGGGGATTC |
TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC |
5: 90,756,780 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
GTAGAGCAATGGGGATTC |
GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC |
5: 90,756,784 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,776,078 (GRCm39) |
E208G |
probably benign |
Het |
| Smurf2 |
G |
T |
11: 106,743,413 (GRCm39) |
P211Q |
probably benign |
Het |
| Snx25 |
C |
A |
8: 46,569,218 (GRCm39) |
|
probably null |
Het |
| Spata6 |
T |
A |
4: 111,685,502 (GRCm39) |
M469K |
probably benign |
Het |
| Spta1 |
G |
T |
1: 174,058,926 (GRCm39) |
A1954S |
possibly damaging |
Het |
| Sry |
CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG |
CTGGTCATGGAACTGCTG |
Y: 2,662,564 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GAG |
GAGTAG |
X: 98,110,121 (GRCm39) |
|
probably null |
Het |
| Tfeb |
AGC |
AGCGGC |
17: 48,097,027 (GRCm39) |
|
probably benign |
Het |
| Tlcd1 |
T |
A |
11: 78,071,020 (GRCm39) |
L203Q |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,598,682 (GRCm39) |
F223L |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,333,106 (GRCm39) |
V100D |
probably damaging |
Het |
| Vinac1 |
A |
G |
2: 128,880,714 (GRCm39) |
F404S |
|
Het |
| Vmn2r56 |
G |
A |
7: 12,428,757 (GRCm39) |
T503I |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,127,871 (GRCm39) |
L898P |
probably damaging |
Het |
| Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
probably benign |
Het |
| Zfp706 |
T |
A |
15: 37,003,949 (GRCm39) |
Y39F |
probably benign |
Het |
| Zhx3 |
T |
A |
2: 160,623,726 (GRCm39) |
N147I |
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 |
|
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 |
|
|
|
R9193:Nid2
|
UTSW |
14 |
19,853,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCTGGCGAACTTTCTCAGAG -3'
(R):5'- TTACGTAGAGGCTGCTGAACTG -3'
Sequencing Primer
(F):5'- GCGAACTTTCTCAGAGTCGCTG -3'
(R):5'- CTGCTGAACTGGGCATCGTAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation