Incidental Mutation 'IGL00325:Ninj2'
ID6333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ninj2
Ensembl Gene ENSMUSG00000041377
Gene Nameninjurin 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00325
Quality Score
Status
Chromosome6
Chromosomal Location120093350-120200339 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 120198062 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 65 (T65P)
Ref Sequence ENSEMBL: ENSMUSP00000108331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035244] [ENSMUST00000112711]
Predicted Effect probably benign
Transcript: ENSMUST00000035244
AA Change: T55P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000046306
Gene: ENSMUSG00000041377
AA Change: T55P

DomainStartEndE-ValueType
Pfam:Ninjurin 14 117 4.9e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112711
AA Change: T65P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108331
Gene: ENSMUSG00000041377
AA Change: T65P

DomainStartEndE-ValueType
Pfam:Ninjurin 25 126 3.8e-35 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ninjurin (for nerve injury induced) family. It is a cell surface adhesion protein that is upregulated in Schwann cells surrounding the distal segment of injured nerve, and promotes neurite outgrowth, thus may have a role in nerve regeneration after nerve injury. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,882,691 S431P possibly damaging Het
Arid1b C A 17: 5,337,110 R1613S possibly damaging Het
Atxn2l T C 7: 126,498,288 D196G possibly damaging Het
Bag3 C A 7: 128,546,341 T560K probably benign Het
BC051076 A G 5: 87,964,495 probably benign Het
Becn1 A T 11: 101,295,622 M18K probably benign Het
C130050O18Rik G A 5: 139,414,738 C182Y probably damaging Het
Cfap43 A G 19: 47,823,188 probably benign Het
Cfap97 C T 8: 46,170,185 S204L probably damaging Het
Gaa A G 11: 119,274,960 T100A probably benign Het
Gab2 C T 7: 97,299,258 P352S probably damaging Het
Gckr T A 5: 31,307,767 I360N possibly damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gulo G T 14: 66,005,949 A40D probably damaging Het
Irs1 T C 1: 82,288,483 I671V probably benign Het
Itgax T C 7: 128,148,309 V1028A possibly damaging Het
Lamb3 T C 1: 193,320,447 C67R probably damaging Het
Mpdz A T 4: 81,317,631 V1237E probably damaging Het
Nat8 C T 6: 85,830,597 V185M probably benign Het
Nrg2 T C 18: 36,021,218 M549V probably benign Het
Nwd2 A G 5: 63,805,475 M801V probably benign Het
Pde8b T C 13: 95,034,367 D589G probably damaging Het
Ppp1r35 T A 5: 137,779,537 V155E probably damaging Het
Prss36 T A 7: 127,944,927 probably benign Het
Raver2 A G 4: 101,102,868 K182E probably damaging Het
Ring1 T G 17: 34,023,009 E142A possibly damaging Het
Sidt2 T A 9: 45,942,236 M689L possibly damaging Het
Slc45a4 A G 15: 73,587,655 V95A probably damaging Het
Ssc5d T C 7: 4,944,481 V1278A possibly damaging Het
Stk36 A T 1: 74,634,702 K1251N possibly damaging Het
Utp14b T A 1: 78,664,545 S53R probably damaging Het
Vmn2r17 A T 5: 109,427,992 E243V probably benign Het
Other mutations in Ninj2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0401:Ninj2 UTSW 6 120198051 missense possibly damaging 0.73
R0738:Ninj2 UTSW 6 120198137 splice site probably benign
R1985:Ninj2 UTSW 6 120198639 splice site probably benign
R4955:Ninj2 UTSW 6 120197946 missense probably damaging 1.00
R5568:Ninj2 UTSW 6 120198709 missense probably benign 0.00
R6594:Ninj2 UTSW 6 120198789 missense possibly damaging 0.91
R6764:Ninj2 UTSW 6 120198050 missense probably benign 0.01
R6970:Ninj2 UTSW 6 120198131 missense possibly damaging 0.91
Posted On2012-04-20