Incidental Mutation 'R6758:Nid2'
ID 531116
Institutional Source Beutler Lab
Gene Symbol Nid2
Ensembl Gene ENSMUSG00000021806
Gene Name nidogen 2
Synonyms entactin 2, entactin-2
MMRRC Submission 044874-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R6758 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 19801333-19861855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19852551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1086 (S1086R)
Ref Sequence ENSEMBL: ENSMUSP00000022340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022340]
AlphaFold O88322
Predicted Effect probably damaging
Transcript: ENSMUST00000022340
AA Change: S1086R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: S1086R

DomainStartEndE-ValueType
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: S820R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225791
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.9%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 A T 5: 90,411,172 (GRCm39) D1374E probably damaging Het
Cd96 C A 16: 45,938,367 (GRCm39) V33L possibly damaging Het
Drd1 T C 13: 54,207,308 (GRCm39) E295G probably benign Het
Fzd8 T A 18: 9,213,238 (GRCm39) C107S possibly damaging Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gm11595 C A 11: 99,663,366 (GRCm39) V105L unknown Het
Gm11595 A T 11: 99,663,367 (GRCm39) C104* probably null Het
Igsf3 T C 3: 101,332,814 (GRCm39) Y31H probably damaging Het
Ikzf2 A T 1: 69,578,059 (GRCm39) H483Q probably damaging Het
Itgbl1 A G 14: 124,094,901 (GRCm39) K309E probably benign Het
Myt1l T G 12: 29,892,599 (GRCm39) Y79D possibly damaging Het
Or1o1 A G 17: 37,716,586 (GRCm39) D49G probably damaging Het
Or5h24 T C 16: 58,919,328 (GRCm39) E9G probably damaging Het
Or6c65 T C 10: 129,603,920 (GRCm39) I185T probably damaging Het
Rorc A G 3: 94,294,825 (GRCm39) N51S possibly damaging Het
Sanbr T C 11: 23,538,475 (GRCm39) probably null Het
Simc1 C T 13: 54,673,361 (GRCm39) P570S possibly damaging Het
Smn1 T A 13: 100,268,946 (GRCm39) M264K possibly damaging Het
Tiam2 A G 17: 3,568,678 (GRCm39) D1608G probably benign Het
Tll1 C A 8: 64,494,439 (GRCm39) probably null Het
Trim15 A G 17: 37,173,233 (GRCm39) L284P probably benign Het
Other mutations in Nid2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGCCATCCAAGGTTTTGTTTC -3'
(R):5'- CCAGTGTTAAATCCAGATTGGGATC -3'

Sequencing Primer
(F):5'- AAGGTTTTGTTTCTCCATCTTAGAGC -3'
(R):5'- TCCAGATTGGGATCCTGAGATAC -3'
Posted On 2018-08-01