Incidental Mutation 'IGL00325:Ninj2'
ID 6333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ninj2
Ensembl Gene ENSMUSG00000041377
Gene Name ninjurin 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00325
Quality Score
Status
Chromosome 6
Chromosomal Location 120070315-120177300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 120175023 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JL89
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: 69,773,517 (GRCm39) S431P possibly damaging Het
Arid1b C A 17: 5,387,385 (GRCm39) R1613S possibly damaging Het
Atxn2l T C 7: 126,097,460 (GRCm39) D196G possibly damaging Het
Bag3 C A 7: 128,148,065 (GRCm39) T560K probably benign Het
BC051076 A G 5: 88,112,354 (GRCm39) probably benign Het
Becn1 A T 11: 101,186,448 (GRCm39) M18K probably benign Het
C130050O18Rik G A 5: 139,400,493 (GRCm39) C182Y probably damaging Het
Cfap43 A G 19: 47,811,627 (GRCm39) probably benign Het
Cfap97 C T 8: 46,623,222 (GRCm39) S204L probably damaging Het
Gaa A G 11: 119,165,786 (GRCm39) T100A probably benign Het
Gab2 C T 7: 96,948,465 (GRCm39) P352S probably damaging Het
Gckr T A 5: 31,465,111 (GRCm39) I360N possibly damaging Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gulo G T 14: 66,243,398 (GRCm39) A40D probably damaging Het
Irs1 T C 1: 82,266,204 (GRCm39) I671V probably benign Het
Itgax T C 7: 127,747,481 (GRCm39) V1028A possibly damaging Het
Lamb3 T C 1: 193,002,755 (GRCm39) C67R probably damaging Het
Mpdz A T 4: 81,235,868 (GRCm39) V1237E probably damaging Het
Nat8 C T 6: 85,807,579 (GRCm39) V185M probably benign Het
Nrg2 T C 18: 36,154,271 (GRCm39) M549V probably benign Het
Nwd2 A G 5: 63,962,818 (GRCm39) M801V probably benign Het
Pde8b T C 13: 95,170,875 (GRCm39) D589G probably damaging Het
Ppp1r35 T A 5: 137,777,799 (GRCm39) V155E probably damaging Het
Prss36 T A 7: 127,544,099 (GRCm39) probably benign Het
Raver2 A G 4: 100,960,065 (GRCm39) K182E probably damaging Het
Ring1 T G 17: 34,241,983 (GRCm39) E142A possibly damaging Het
Sidt2 T A 9: 45,853,534 (GRCm39) M689L possibly damaging Het
Slc45a4 A G 15: 73,459,504 (GRCm39) V95A probably damaging Het
Ssc5d T C 7: 4,947,480 (GRCm39) V1278A possibly damaging Het
Stk36 A T 1: 74,673,861 (GRCm39) K1251N possibly damaging Het
Utp14b T A 1: 78,642,262 (GRCm39) S53R probably damaging Het
Vmn2r17 A T 5: 109,575,858 (GRCm39) E243V probably benign Het
Other mutations in Ninj2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0401:Ninj2 UTSW 6 120,175,012 (GRCm39) missense possibly damaging 0.73
R0738:Ninj2 UTSW 6 120,175,098 (GRCm39) splice site probably benign
R1985:Ninj2 UTSW 6 120,175,600 (GRCm39) splice site probably benign
R4955:Ninj2 UTSW 6 120,174,907 (GRCm39) missense probably damaging 1.00
R5568:Ninj2 UTSW 6 120,175,670 (GRCm39) missense probably benign 0.00
R6594:Ninj2 UTSW 6 120,175,750 (GRCm39) missense possibly damaging 0.91
R6764:Ninj2 UTSW 6 120,175,011 (GRCm39) missense probably benign 0.01
R6970:Ninj2 UTSW 6 120,175,092 (GRCm39) missense possibly damaging 0.91
R8544:Ninj2 UTSW 6 120,175,018 (GRCm39) missense probably damaging 1.00
R9700:Ninj2 UTSW 6 120,174,873 (GRCm39) missense probably benign
Posted On 2012-04-20