Incidental Mutation 'IGL01396:Tnr'
ID79448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnr
Ensembl Gene ENSMUSG00000015829
Gene Nametenascin R
SynonymsTN-R, janusin, restrictin, J1-tenascin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01396
Quality Score
Status
Chromosome1
Chromosomal Location159523769-159931729 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 159897024 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 1095 (R1095L)
Ref Sequence ENSEMBL: ENSMUSP00000141553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111669] [ENSMUST00000192069]
Predicted Effect possibly damaging
Transcript: ENSMUST00000111669
AA Change: R1095L

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: R1095L

DomainStartEndE-ValueType
EGF_like 203 231 3.87e1 SMART
EGF_like 234 262 3.16e1 SMART
EGF_like 265 293 2.8e1 SMART
EGF 296 324 2.43e1 SMART
FN3 326 404 4.77e-8 SMART
FN3 415 493 3.1e-7 SMART
FN3 504 583 2.01e-6 SMART
FN3 594 675 1.98e-5 SMART
FN3 686 763 3.29e-11 SMART
FN3 774 851 3.32e-7 SMART
FN3 864 942 3.73e-10 SMART
FN3 953 1031 2.28e-5 SMART
FN3 1041 1118 8.56e-10 SMART
FBG 1133 1343 2.69e-133 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000192069
AA Change: R1095L

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: R1095L

DomainStartEndE-ValueType
EGF_like 203 231 3.87e1 SMART
EGF_like 234 262 3.16e1 SMART
EGF_like 265 293 2.8e1 SMART
EGF 296 324 2.43e1 SMART
FN3 326 404 4.77e-8 SMART
FN3 415 493 3.1e-7 SMART
FN3 504 583 2.01e-6 SMART
FN3 594 675 1.98e-5 SMART
FN3 686 763 3.29e-11 SMART
FN3 774 851 3.32e-7 SMART
FN3 864 942 3.73e-10 SMART
FN3 953 1031 2.28e-5 SMART
FN3 1041 1118 8.56e-10 SMART
FBG 1133 1343 2.69e-133 SMART
Coding Region Coverage
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 tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]
PHENOTYPE: In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 87,972,790 Y469N probably benign Het
Actl11 T C 9: 107,928,765 S96P possibly damaging Het
Ankrd13b T A 11: 77,472,372 probably null Het
Apobec4 T A 1: 152,756,266 I15K probably damaging Het
Arhgef28 G T 13: 97,953,893 D1039E probably damaging Het
Atp1a1 C T 3: 101,591,453 G175R probably damaging Het
AU040320 T A 4: 126,869,378 probably benign Het
Bcl9l G A 9: 44,506,824 R653H probably damaging Het
Ccdc141 T A 2: 77,128,325 I144L possibly damaging Het
Cdh20 C T 1: 104,947,429 T312I possibly damaging Het
Cdh23 C T 10: 60,385,069 V1297I possibly damaging Het
Cfap57 T C 4: 118,610,595 Y315C probably damaging Het
Chd8 A G 14: 52,204,587 probably benign Het
Cog5 A G 12: 31,894,096 D660G probably benign Het
Cps1 T C 1: 67,157,786 I332T probably damaging Het
Csgalnact2 T C 6: 118,126,327 T225A probably damaging Het
Dchs1 A G 7: 105,772,283 L310P probably damaging Het
Dgki T C 6: 37,000,090 N695S probably damaging Het
Gas7 T A 11: 67,652,914 probably null Het
Gm21286 T C 4: 60,838,324 noncoding transcript Het
Gm4799 C T 10: 82,954,684 noncoding transcript Het
Hdac4 T C 1: 91,959,474 probably benign Het
Hif1a T A 12: 73,940,533 S467T probably benign Het
Ier5 A G 1: 155,098,550 V294A probably damaging Het
Ifna11 T C 4: 88,820,077 V40A probably benign Het
Itga9 T C 9: 118,607,123 probably benign Het
Lbx1 G T 19: 45,234,231 Q118K probably benign Het
Lta A T 17: 35,204,085 probably null Het
Matr3 A G 18: 35,588,389 Y471C probably damaging Het
Nrg2 A T 18: 36,045,852 probably benign Het
Olfr1156 G T 2: 87,949,863 F123L probably damaging Het
Olfr1195 C T 2: 88,683,231 C167Y probably damaging Het
Olfr1301 T A 2: 111,754,603 M118K probably damaging Het
Olfr1301 T C 2: 111,754,503 F85L probably benign Het
Patl1 A G 19: 11,923,883 K299R probably damaging Het
Pdgfrb A G 18: 61,072,664 E574G probably damaging Het
Phf3 G A 1: 30,804,305 Q1858* probably null Het
Prkca T C 11: 108,014,322 K197E possibly damaging Het
Psmc6 C A 14: 45,343,667 Q307K probably benign Het
Rasa1 T C 13: 85,258,442 I181V probably benign Het
Scel A G 14: 103,608,094 probably benign Het
Scn5a A T 9: 119,534,704 S457T probably damaging Het
Sesn3 A G 9: 14,321,078 T216A probably benign Het
Slc25a21 A G 12: 57,159,189 V19A probably benign Het
Slc34a1 A G 13: 55,402,733 T81A probably damaging Het
Slc35a5 A G 16: 45,151,503 Y117H probably damaging Het
Sptbn4 A G 7: 27,414,771 V569A probably benign Het
Sqle A G 15: 59,323,874 Y333C probably damaging Het
Svep1 T C 4: 58,068,552 E3078G possibly damaging Het
Tacc2 T A 7: 130,759,189 I2737N probably damaging Het
Tet3 A T 6: 83,369,638 Y1272* probably null Het
Vmn1r184 T C 7: 26,267,437 S203P probably damaging Het
Vmn2r94 A G 17: 18,257,039 L370P probably damaging Het
Xrcc5 A G 1: 72,354,245 H559R probably benign Het
Other mutations in Tnr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Tnr APN 1 159861245 missense probably benign 0.00
IGL00905:Tnr APN 1 159852182 missense probably benign 0.06
IGL01550:Tnr APN 1 159874258 missense probably benign
IGL01803:Tnr APN 1 159868243 missense probably damaging 1.00
IGL01845:Tnr APN 1 159868006 unclassified probably benign
IGL01983:Tnr APN 1 159863779 missense probably benign 0.00
IGL01985:Tnr APN 1 159919037 missense possibly damaging 0.70
IGL02210:Tnr APN 1 159852101 missense probably benign 0.44
IGL02486:Tnr APN 1 159852094 unclassified probably null
IGL03210:Tnr APN 1 159888310 missense probably benign 0.00
R0002:Tnr UTSW 1 159874200 missense probably damaging 1.00
R0002:Tnr UTSW 1 159874200 missense probably damaging 1.00
R0009:Tnr UTSW 1 159852416 missense probably damaging 1.00
R0042:Tnr UTSW 1 159887025 missense probably benign 0.01
R0594:Tnr UTSW 1 159850335 missense probably benign
R0617:Tnr UTSW 1 159868103 missense probably damaging 1.00
R0637:Tnr UTSW 1 159850335 missense possibly damaging 0.60
R0682:Tnr UTSW 1 159852307 nonsense probably null
R1171:Tnr UTSW 1 159858210 missense probably damaging 0.97
R1185:Tnr UTSW 1 159852286 missense probably benign
R1185:Tnr UTSW 1 159852286 missense probably benign
R1185:Tnr UTSW 1 159852286 missense probably benign
R1335:Tnr UTSW 1 159868030 missense probably benign 0.18
R1540:Tnr UTSW 1 159850105 missense probably damaging 0.99
R1697:Tnr UTSW 1 159852030 missense probably benign 0.00
R1938:Tnr UTSW 1 159895037 nonsense probably null
R1941:Tnr UTSW 1 159850134 missense possibly damaging 0.92
R2021:Tnr UTSW 1 159852022 missense probably benign
R2022:Tnr UTSW 1 159852022 missense probably benign
R2051:Tnr UTSW 1 159892033 missense probably benign
R2157:Tnr UTSW 1 159858270 missense probably damaging 0.98
R2319:Tnr UTSW 1 159850048 start codon destroyed probably null 1.00
R2936:Tnr UTSW 1 159888362 missense probably damaging 0.96
R3015:Tnr UTSW 1 159888259 missense probably benign 0.00
R3417:Tnr UTSW 1 159895042 missense probably benign 0.00
R3739:Tnr UTSW 1 159923413 missense possibly damaging 0.78
R3977:Tnr UTSW 1 159892023 missense probably benign
R4232:Tnr UTSW 1 159886215 missense possibly damaging 0.55
R4478:Tnr UTSW 1 159884756 splice site probably null
R4774:Tnr UTSW 1 159897066 missense probably damaging 1.00
R4829:Tnr UTSW 1 159858404 missense probably benign 0.24
R4837:Tnr UTSW 1 159684788 intron probably benign
R5111:Tnr UTSW 1 159886228 missense probably benign 0.04
R5224:Tnr UTSW 1 159923315 missense probably damaging 1.00
R5249:Tnr UTSW 1 159684656 intron probably benign
R5730:Tnr UTSW 1 159888322 missense probably benign 0.02
R5807:Tnr UTSW 1 159886930 missense possibly damaging 0.95
R5832:Tnr UTSW 1 159886122 missense probably benign 0.15
R5927:Tnr UTSW 1 159912766 missense probably damaging 1.00
R6049:Tnr UTSW 1 159912754 missense probably damaging 1.00
R6056:Tnr UTSW 1 159886909 missense probably damaging 0.99
R6063:Tnr UTSW 1 159912684 missense probably benign 0.00
R6141:Tnr UTSW 1 159887122 missense probably benign
R6218:Tnr UTSW 1 159888314 missense possibly damaging 0.94
R6275:Tnr UTSW 1 159861270 missense probably damaging 0.99
R6543:Tnr UTSW 1 159924107 missense probably damaging 1.00
R6626:Tnr UTSW 1 159850252 missense probably damaging 1.00
X0011:Tnr UTSW 1 159889338 missense probably benign 0.02
X0028:Tnr UTSW 1 159874114 missense probably damaging 1.00
Z1088:Tnr UTSW 1 159895095 missense probably benign 0.29
Posted On2013-11-05