Incidental Mutation 'R8465:Tnr'
ID 656737
Institutional Source Beutler Lab
Gene Symbol Tnr
Ensembl Gene ENSMUSG00000015829
Gene Name tenascin R
Synonyms J1-tenascin, restrictin, janusin, TN-R
MMRRC Submission 067909-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8465 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 159351339-159759299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 159713645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 691 (D691G)
Ref Sequence ENSEMBL: ENSMUSP00000141553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111669] [ENSMUST00000192069]
AlphaFold Q8BYI9
Predicted Effect probably benign
Transcript: ENSMUST00000111669
AA Change: D691G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: D691G

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 probably benign
Transcript: ENSMUST00000192069
AA Change: D691G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: D691G

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (80/80)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot6 A T 12: 84,153,215 (GRCm39) probably null Het
Adamtsl3 A T 7: 82,247,330 (GRCm39) N1429Y probably benign Het
Adk T C 14: 21,153,892 (GRCm39) S32P possibly damaging Het
Akap13 A T 7: 75,376,786 (GRCm39) M2005L probably benign Het
Atp10a A T 7: 58,478,058 (GRCm39) D1367V probably benign Het
Bckdhb A G 9: 83,870,915 (GRCm39) I142V probably benign Het
Brap C T 5: 121,817,358 (GRCm39) Q322* probably null Het
Carmil3 A T 14: 55,734,305 (GRCm39) N401I probably damaging Het
Cdan1 A T 2: 120,558,921 (GRCm39) S426T possibly damaging Het
Cdc27 C A 11: 104,408,317 (GRCm39) S531I probably benign Het
Cela3a A T 4: 137,131,185 (GRCm39) Y184* probably null Het
Cep63 T C 9: 102,490,576 (GRCm39) K178R probably benign Het
Cfb G A 17: 35,076,290 (GRCm39) Q152* probably null Het
Cnpy2 G A 10: 128,162,044 (GRCm39) V106I probably benign Het
Cntn1 GCTGTCTTC GC 15: 92,237,404 (GRCm39) probably null Het
Ctc1 G A 11: 68,917,045 (GRCm39) G67D probably damaging Het
Cwc27 G T 13: 104,940,772 (GRCm39) P196T probably benign Het
Cwc27 C A 13: 104,940,776 (GRCm39) L194F possibly damaging Het
Cyp2d12 T G 15: 82,439,378 (GRCm39) S11A possibly damaging Het
Ddx55 T A 5: 124,697,184 (GRCm39) probably null Het
Dedd2 G T 7: 24,918,331 (GRCm39) R75S probably damaging Het
Fat2 G A 11: 55,147,530 (GRCm39) S3904F possibly damaging Het
Fibp G A 19: 5,513,215 (GRCm39) V177I probably damaging Het
Fsip2 A T 2: 82,810,284 (GRCm39) E2201V probably benign Het
Gbp11 C T 5: 105,472,928 (GRCm39) D499N probably benign Het
Gfm1 A G 3: 67,339,032 (GRCm39) E45G probably damaging Het
H2-D1 A G 17: 35,482,487 (GRCm39) Y69C probably damaging Het
Hcar1 A G 5: 124,017,109 (GRCm39) F194S probably damaging Het
Heatr4 A T 12: 84,024,707 (GRCm39) probably null Het
Kcnd2 G A 6: 21,216,695 (GRCm39) C133Y probably damaging Het
Kcnq1 A T 7: 142,979,711 (GRCm39) Q619L probably benign Het
Kctd12 T A 14: 103,218,901 (GRCm39) R326W probably damaging Het
Kel A G 6: 41,666,472 (GRCm39) probably null Het
Lipk A T 19: 34,024,197 (GRCm39) I332F probably benign Het
Lrrc37 T A 11: 103,506,947 (GRCm39) probably benign Het
Masp2 A G 4: 148,696,516 (GRCm39) D371G possibly damaging Het
Met A G 6: 17,571,809 (GRCm39) E1376G probably benign Het
Mup5 A T 4: 61,752,015 (GRCm39) I78K probably benign Het
Mynn A T 3: 30,670,790 (GRCm39) D526V probably damaging Het
Naip6 G T 13: 100,433,423 (GRCm39) T1138N possibly damaging Het
Neurod1 G T 2: 79,284,696 (GRCm39) P229Q probably damaging Het
Npepps T G 11: 97,139,085 (GRCm39) R162S probably damaging Het
Ntrk3 T A 7: 78,112,631 (GRCm39) Q175L probably damaging Het
Obsl1 T C 1: 75,480,032 (GRCm39) T310A probably damaging Het
Or4g7 A T 2: 111,309,425 (GRCm39) T99S probably benign Het
Or8c9 A T 9: 38,241,410 (GRCm39) I176F possibly damaging Het
Or8j3c A T 2: 86,253,975 (GRCm39) M15K probably benign Het
Or8k32 A G 2: 86,368,731 (GRCm39) I176T probably damaging Het
Pigf G A 17: 87,304,964 (GRCm39) T193I possibly damaging Het
Pkp4 T C 2: 59,172,525 (GRCm39) V904A possibly damaging Het
Plekha6 C T 1: 133,197,778 (GRCm39) T141M probably damaging Het
Rapgef6 G A 11: 54,582,308 (GRCm39) D1407N probably benign Het
Rhobtb3 T C 13: 76,087,741 (GRCm39) D82G probably damaging Het
Rims1 T C 1: 22,498,731 (GRCm39) N767S possibly damaging Het
Ripor2 T A 13: 24,849,451 (GRCm39) probably benign Het
Sec14l4 T A 11: 3,993,948 (GRCm39) I296N probably damaging Het
Serpinb12 G T 1: 106,884,342 (GRCm39) V363F probably damaging Het
Serpinb9c A G 13: 33,334,016 (GRCm39) I342T probably damaging Het
Shmt2 A G 10: 127,355,945 (GRCm39) V133A probably damaging Het
Slc30a6 A G 17: 74,722,661 (GRCm39) M243V probably benign Het
Slfn2 T A 11: 82,960,487 (GRCm39) N155K probably damaging Het
Spata31h1 A T 10: 82,152,298 (GRCm39) L23M possibly damaging Het
Syne2 A T 12: 75,900,898 (GRCm39) D19V possibly damaging Het
Tcl1b3 A T 12: 105,160,736 (GRCm39) I116L probably benign Het
Tcp11 A G 17: 28,286,766 (GRCm39) I411T probably damaging Het
Tctn1 C T 5: 122,379,859 (GRCm39) A560T probably benign Het
Tenm3 C A 8: 48,682,216 (GRCm39) Q2471H probably damaging Het
Ube3b C T 5: 114,528,451 (GRCm39) P150S probably damaging Het
Ugt2b5 T C 5: 87,287,518 (GRCm39) I216M possibly damaging Het
Unc5d T A 8: 29,156,877 (GRCm39) R789S probably damaging Het
Ush2a G A 1: 188,147,875 (GRCm39) G934D probably damaging Het
Usp6nl A T 2: 6,399,352 (GRCm39) R70S probably damaging Het
Vmn1r181 T C 7: 23,684,309 (GRCm39) I258T possibly damaging Het
Vmn2r15 C A 5: 109,445,302 (GRCm39) D41Y probably damaging Het
Vmn2r17 T A 5: 109,600,691 (GRCm39) I663N probably damaging Het
Vnn3 C A 10: 23,741,780 (GRCm39) Q362K possibly damaging Het
Wdr72 A G 9: 74,059,730 (GRCm39) D380G possibly damaging Het
Wfdc10 G A 2: 164,499,180 (GRCm39) E97K possibly damaging Het
Xdh A T 17: 74,206,007 (GRCm39) C1002* probably null Het
Zscan4e A C 7: 11,041,578 (GRCm39) V126G probably damaging Het
Other mutations in Tnr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Tnr APN 1 159,688,815 (GRCm39) missense probably benign 0.00
IGL00905:Tnr APN 1 159,679,752 (GRCm39) missense probably benign 0.06
IGL01396:Tnr APN 1 159,724,594 (GRCm39) missense possibly damaging 0.91
IGL01550:Tnr APN 1 159,701,828 (GRCm39) missense probably benign
IGL01803:Tnr APN 1 159,695,813 (GRCm39) missense probably damaging 1.00
IGL01845:Tnr APN 1 159,695,576 (GRCm39) unclassified probably benign
IGL01983:Tnr APN 1 159,691,349 (GRCm39) missense probably benign 0.00
IGL01985:Tnr APN 1 159,746,607 (GRCm39) missense possibly damaging 0.70
IGL02210:Tnr APN 1 159,679,671 (GRCm39) missense probably benign 0.44
IGL02486:Tnr APN 1 159,679,664 (GRCm39) splice site probably null
IGL03210:Tnr APN 1 159,715,880 (GRCm39) missense probably benign 0.00
Assiduous UTSW 1 159,719,593 (GRCm39) missense probably benign
Grip UTSW 1 159,713,680 (GRCm39) missense possibly damaging 0.68
Persistent UTSW 1 159,679,856 (GRCm39) missense probably benign
Tenacious UTSW 1 159,701,770 (GRCm39) missense probably damaging 1.00
R0002:Tnr UTSW 1 159,701,770 (GRCm39) missense probably damaging 1.00
R0002:Tnr UTSW 1 159,701,770 (GRCm39) missense probably damaging 1.00
R0009:Tnr UTSW 1 159,679,986 (GRCm39) missense probably damaging 1.00
R0042:Tnr UTSW 1 159,714,595 (GRCm39) missense probably benign 0.01
R0594:Tnr UTSW 1 159,677,905 (GRCm39) missense probably benign
R0617:Tnr UTSW 1 159,695,673 (GRCm39) missense probably damaging 1.00
R0637:Tnr UTSW 1 159,677,905 (GRCm39) missense possibly damaging 0.60
R0682:Tnr UTSW 1 159,679,877 (GRCm39) nonsense probably null
R1171:Tnr UTSW 1 159,685,780 (GRCm39) missense probably damaging 0.97
R1185:Tnr UTSW 1 159,679,856 (GRCm39) missense probably benign
R1185:Tnr UTSW 1 159,679,856 (GRCm39) missense probably benign
R1185:Tnr UTSW 1 159,679,856 (GRCm39) missense probably benign
R1335:Tnr UTSW 1 159,695,600 (GRCm39) missense probably benign 0.18
R1540:Tnr UTSW 1 159,677,675 (GRCm39) missense probably damaging 0.99
R1697:Tnr UTSW 1 159,679,600 (GRCm39) missense probably benign 0.00
R1938:Tnr UTSW 1 159,722,607 (GRCm39) nonsense probably null
R1941:Tnr UTSW 1 159,677,704 (GRCm39) missense possibly damaging 0.92
R2021:Tnr UTSW 1 159,679,592 (GRCm39) missense probably benign
R2022:Tnr UTSW 1 159,679,592 (GRCm39) missense probably benign
R2051:Tnr UTSW 1 159,719,603 (GRCm39) missense probably benign
R2157:Tnr UTSW 1 159,685,840 (GRCm39) missense probably damaging 0.98
R2319:Tnr UTSW 1 159,677,618 (GRCm39) start codon destroyed probably null 1.00
R2936:Tnr UTSW 1 159,715,932 (GRCm39) missense probably damaging 0.96
R3015:Tnr UTSW 1 159,715,829 (GRCm39) missense probably benign 0.00
R3417:Tnr UTSW 1 159,722,612 (GRCm39) missense probably benign 0.00
R3739:Tnr UTSW 1 159,750,983 (GRCm39) missense possibly damaging 0.78
R3977:Tnr UTSW 1 159,719,593 (GRCm39) missense probably benign
R4232:Tnr UTSW 1 159,713,785 (GRCm39) missense possibly damaging 0.55
R4478:Tnr UTSW 1 159,712,326 (GRCm39) splice site probably null
R4774:Tnr UTSW 1 159,724,636 (GRCm39) missense probably damaging 1.00
R4829:Tnr UTSW 1 159,685,974 (GRCm39) missense probably benign 0.24
R4837:Tnr UTSW 1 159,512,358 (GRCm39) intron probably benign
R5111:Tnr UTSW 1 159,713,798 (GRCm39) missense probably benign 0.04
R5224:Tnr UTSW 1 159,750,885 (GRCm39) missense probably damaging 1.00
R5249:Tnr UTSW 1 159,512,226 (GRCm39) intron probably benign
R5730:Tnr UTSW 1 159,715,892 (GRCm39) missense probably benign 0.02
R5807:Tnr UTSW 1 159,714,500 (GRCm39) missense possibly damaging 0.95
R5832:Tnr UTSW 1 159,713,692 (GRCm39) missense probably benign 0.15
R5927:Tnr UTSW 1 159,740,336 (GRCm39) missense probably damaging 1.00
R6049:Tnr UTSW 1 159,740,324 (GRCm39) missense probably damaging 1.00
R6056:Tnr UTSW 1 159,714,479 (GRCm39) missense probably damaging 0.99
R6063:Tnr UTSW 1 159,740,254 (GRCm39) missense probably benign 0.00
R6141:Tnr UTSW 1 159,714,692 (GRCm39) missense probably benign
R6218:Tnr UTSW 1 159,715,884 (GRCm39) missense possibly damaging 0.94
R6275:Tnr UTSW 1 159,688,840 (GRCm39) missense probably damaging 0.99
R6543:Tnr UTSW 1 159,751,677 (GRCm39) missense probably damaging 1.00
R6626:Tnr UTSW 1 159,677,822 (GRCm39) missense probably damaging 1.00
R7378:Tnr UTSW 1 159,712,432 (GRCm39) critical splice donor site probably null
R7587:Tnr UTSW 1 159,713,778 (GRCm39) missense probably benign 0.27
R7766:Tnr UTSW 1 159,715,880 (GRCm39) missense probably benign 0.00
R8140:Tnr UTSW 1 159,691,265 (GRCm39) missense probably damaging 0.99
R8215:Tnr UTSW 1 159,715,860 (GRCm39) missense possibly damaging 0.91
R8248:Tnr UTSW 1 159,719,663 (GRCm39) missense probably damaging 0.98
R8374:Tnr UTSW 1 159,685,953 (GRCm39) missense probably benign 0.24
R8427:Tnr UTSW 1 159,713,801 (GRCm39) missense possibly damaging 0.67
R8534:Tnr UTSW 1 159,746,585 (GRCm39) missense probably benign 0.18
R8753:Tnr UTSW 1 159,677,936 (GRCm39) missense probably benign 0.28
R8804:Tnr UTSW 1 159,685,882 (GRCm39) missense probably benign
R8857:Tnr UTSW 1 159,713,728 (GRCm39) missense probably benign 0.10
R8917:Tnr UTSW 1 159,701,692 (GRCm39) nonsense probably null
R8930:Tnr UTSW 1 159,740,359 (GRCm39) missense probably damaging 1.00
R8932:Tnr UTSW 1 159,740,359 (GRCm39) missense probably damaging 1.00
R8940:Tnr UTSW 1 159,685,867 (GRCm39) missense probably damaging 1.00
R9096:Tnr UTSW 1 159,677,804 (GRCm39) missense probably benign 0.10
R9127:Tnr UTSW 1 159,713,680 (GRCm39) missense possibly damaging 0.68
R9205:Tnr UTSW 1 159,722,617 (GRCm39) missense probably benign
R9311:Tnr UTSW 1 159,677,663 (GRCm39) missense probably benign 0.30
R9679:Tnr UTSW 1 159,719,608 (GRCm39) missense probably benign 0.08
X0011:Tnr UTSW 1 159,716,908 (GRCm39) missense probably benign 0.02
X0028:Tnr UTSW 1 159,701,684 (GRCm39) missense probably damaging 1.00
Z1088:Tnr UTSW 1 159,722,665 (GRCm39) missense probably benign 0.29
Z1177:Tnr UTSW 1 159,679,661 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTATGGAGTCAGTGTGAAATAGG -3'
(R):5'- TGTATTCTGCTCCAGGCTCTAG -3'

Sequencing Primer
(F):5'- TCAGTGTGAAATAGGCCAATTGC -3'
(R):5'- GCTCCAGGCTCTAGATCTGTTAG -3'
Posted On 2021-01-18