Incidental Mutation 'R6764:Ninj2'
ID 531816
Institutional Source Beutler Lab
Gene Symbol Ninj2
Ensembl Gene ENSMUSG00000041377
Gene Name ninjurin 2
Synonyms
MMRRC Submission 044880-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6764 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 120070315-120177300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 120175011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 51 (A51S)
Ref Sequence ENSEMBL: ENSMUSP00000046306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035244] [ENSMUST00000112711]
AlphaFold Q9JL89
Predicted Effect probably benign
Transcript: ENSMUST00000035244
AA Change: A51S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000046306
Gene: ENSMUSG00000041377
AA Change: A51S

DomainStartEndE-ValueType
Pfam:Ninjurin 14 117 4.9e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112711
AA Change: A61S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108331
Gene: ENSMUSG00000041377
AA Change: A61S

DomainStartEndE-ValueType
Pfam:Ninjurin 25 126 3.8e-35 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (39/39)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 G T 11: 53,290,657 (GRCm39) R539L probably damaging Het
Aox1 T A 1: 58,389,441 (GRCm39) Y1147N probably damaging Het
Arhgef25 A G 10: 127,019,970 (GRCm39) F423L probably damaging Het
Atp1a2 A T 1: 172,112,181 (GRCm39) D571E probably benign Het
Bank1 A G 3: 135,948,701 (GRCm39) S159P probably damaging Het
Bcan C A 3: 87,895,685 (GRCm39) R817L probably damaging Het
Cacna1g A G 11: 94,304,014 (GRCm39) S1990P possibly damaging Het
Ccna1 G A 3: 54,953,499 (GRCm39) T368M probably damaging Het
Chia1 T C 3: 106,038,056 (GRCm39) probably null Het
Ctbp1 T C 5: 33,416,589 (GRCm39) H136R possibly damaging Het
Dner T G 1: 84,472,502 (GRCm39) D366A probably damaging Het
Eif3d A T 15: 77,845,886 (GRCm39) D378E probably damaging Het
Evpl A G 11: 116,113,770 (GRCm39) S1307P probably damaging Het
Fgd5 T A 6: 91,966,402 (GRCm39) N720K probably damaging Het
Fmn1 A G 2: 113,355,560 (GRCm39) E667G unknown Het
Gm4846 A G 1: 166,319,121 (GRCm39) C206R probably benign Het
Grpel1 G A 5: 36,622,569 (GRCm39) R11H probably benign Het
Gsn A G 2: 35,174,056 (GRCm39) Y55C probably damaging Het
Hephl1 G A 9: 15,000,217 (GRCm39) T345I possibly damaging Het
Ints2 T A 11: 86,103,605 (GRCm39) K1150N probably benign Het
Itga4 C A 2: 79,155,958 (GRCm39) H975N probably benign Het
Musk T C 4: 58,354,027 (GRCm39) V360A probably damaging Het
Naalad2 A T 9: 18,314,185 (GRCm39) probably benign Het
Nscme3l A G 19: 5,552,900 (GRCm39) S294P probably damaging Het
Pcdhac1 T C 18: 37,223,732 (GRCm39) Y182H probably damaging Het
Pitpnm3 A G 11: 71,942,059 (GRCm39) F916S probably damaging Het
Sfrp5 T A 19: 42,188,238 (GRCm39) M194L probably benign Het
Sigirr C T 7: 140,673,155 (GRCm39) V99I probably benign Het
Smco2 A G 6: 146,772,827 (GRCm39) D343G probably damaging Het
Snap91 A G 9: 86,674,234 (GRCm39) I584T probably benign Het
Syne1 G A 10: 5,179,011 (GRCm39) Q4488* probably null Het
Tbc1d24 A C 17: 24,404,754 (GRCm39) F130C possibly damaging Het
Trpm7 A G 2: 126,686,340 (GRCm39) V296A possibly damaging Het
Ttll11 T C 2: 35,780,460 (GRCm39) probably null Het
Vmn2r115 A G 17: 23,565,046 (GRCm39) D311G probably damaging Het
Vmn2r63 A G 7: 42,552,695 (GRCm39) S854P probably damaging Het
Zfp330 C T 8: 83,493,934 (GRCm39) C109Y probably damaging Het
Zfp534 C T 4: 147,759,175 (GRCm39) G498D probably benign Het
Zfp62 A G 11: 49,105,996 (GRCm39) D29G probably damaging Het
Other mutations in Ninj2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Ninj2 APN 6 120,175,023 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers
Posted On 2018-08-29