Incidental Mutation 'R4955:Ninj2'
ID 381527
Institutional Source Beutler Lab
Gene Symbol Ninj2
Ensembl Gene ENSMUSG00000041377
Gene Name ninjurin 2
Synonyms
MMRRC Submission 042552-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4955 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 120070315-120177300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120174907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 26 (N26S)
Ref Sequence ENSEMBL: ENSMUSP00000108331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035244] [ENSMUST00000112711]
AlphaFold Q9JL89
Predicted Effect probably damaging
Transcript: ENSMUST00000035244
AA Change: N16S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046306
Gene: ENSMUSG00000041377
AA Change: N16S

DomainStartEndE-ValueType
Pfam:Ninjurin 14 117 4.9e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112711
AA Change: N26S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108331
Gene: ENSMUSG00000041377
AA Change: N26S

DomainStartEndE-ValueType
Pfam:Ninjurin 25 126 3.8e-35 PFAM
Meta Mutation Damage Score 0.7082 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (50/50)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
4933407L21Rik T A 1: 85,859,008 (GRCm39) probably benign Het
Abca8a T G 11: 109,927,338 (GRCm39) E1338D probably benign Het
Arl2bp G A 8: 95,397,056 (GRCm39) probably null Het
Arsj T C 3: 126,232,189 (GRCm39) Y312H probably benign Het
Atp8b2 G T 3: 89,860,227 (GRCm39) probably benign Het
Cdh20 T C 1: 104,912,528 (GRCm39) V594A probably damaging Het
Cfap44 T A 16: 44,295,640 (GRCm39) V1646E possibly damaging Het
Csmd3 A T 15: 48,536,914 (GRCm39) I96K probably damaging Het
Fbn2 T C 18: 58,191,455 (GRCm39) Q1556R possibly damaging Het
Fstl5 T A 3: 76,131,183 (GRCm39) probably null Het
H4c9 T A 13: 22,225,355 (GRCm39) I47F probably damaging Het
Hivep2 T A 10: 14,006,702 (GRCm39) M1100K probably benign Het
Ing4 C T 6: 125,025,164 (GRCm39) A225V probably damaging Het
Kcnc3 CTT CT 7: 44,240,720 (GRCm39) probably null Het
Khdrbs2 T A 1: 32,559,158 (GRCm39) probably benign Het
Kif21a A T 15: 90,821,393 (GRCm39) W1566R probably damaging Het
Lrfn5 A C 12: 61,886,764 (GRCm39) D184A probably benign Het
Mettl2 C T 11: 105,028,605 (GRCm39) T319I possibly damaging Het
Mgrn1 T C 16: 4,752,083 (GRCm39) V529A probably benign Het
Naca T A 10: 127,878,084 (GRCm39) probably benign Het
Nqo1 A G 8: 108,115,489 (GRCm39) S263P probably benign Het
Obscn T C 11: 58,959,998 (GRCm39) T3566A probably benign Het
Opn5 A T 17: 42,922,129 (GRCm39) F24L probably damaging Het
Or14j8 T C 17: 38,263,789 (GRCm39) N42S probably damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4k41 A T 2: 111,279,950 (GRCm39) H155L probably damaging Het
Or52a20 A T 7: 103,365,912 (GRCm39) Y37F probably benign Het
Palmd A G 3: 116,717,873 (GRCm39) V208A probably damaging Het
Plekhd1 T A 12: 80,768,795 (GRCm39) I426N possibly damaging Het
Polq T G 16: 36,881,444 (GRCm39) Y1203D probably benign Het
Prex1 A G 2: 166,415,143 (GRCm39) F251S probably damaging Het
Prkd3 T C 17: 79,260,156 (GRCm39) M816V probably null Het
Rab3gap2 C T 1: 184,999,352 (GRCm39) probably benign Het
Rcan2 C A 17: 44,347,972 (GRCm39) P13Q probably damaging Het
Slc35b3 A G 13: 39,116,866 (GRCm39) V329A probably benign Het
Slc5a1 T C 5: 33,318,246 (GRCm39) M633T probably benign Het
Stac2 A C 11: 97,934,374 (GRCm39) L110R possibly damaging Het
Styxl2 T C 1: 165,935,661 (GRCm39) Y179C probably damaging Het
Tecpr1 T C 5: 144,154,075 (GRCm39) E126G probably damaging Het
Ttll6 A G 11: 96,029,615 (GRCm39) D176G possibly damaging Het
Utrn C T 10: 12,737,311 (GRCm39) probably null Het
Zfp341 T C 2: 154,479,950 (GRCm39) V467A 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
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
Predicted Primers PCR Primer
(F):5'- GAGGTTCCATCCACCAATCC -3'
(R):5'- AGGCTAATGACCACTTGCAGG -3'

Sequencing Primer
(F):5'- ACCTTTCATTGGTTTCAGGTCATTAG -3'
(R):5'- CAGGAGCAGAGAGACAATGATG -3'
Posted On 2016-04-27