Incidental Mutation 'R5927:Tnr'
ID 459921
Institutional Source Beutler Lab
Gene Symbol Tnr
Ensembl Gene ENSMUSG00000015829
Gene Name tenascin R
Synonyms J1-tenascin, restrictin, janusin, TN-R
MMRRC Submission 044122-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5927 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 159351339-159759299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 159740336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1170 (M1170T)
Ref Sequence ENSEMBL: ENSMUSP00000141553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111669] [ENSMUST00000192069]
AlphaFold Q8BYI9
Predicted Effect probably damaging
Transcript: ENSMUST00000111669
AA Change: M1170T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: M1170T

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 damaging
Transcript: ENSMUST00000192069
AA Change: M1170T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: M1170T

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
Meta Mutation Damage Score 0.8105 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (73/73)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T A 3: 153,644,745 (GRCm39) I60F probably damaging Het
Ankrd26 A G 6: 118,484,597 (GRCm39) probably null Het
Arhgdib A T 6: 136,901,136 (GRCm39) W198R probably damaging Het
Atad5 T A 11: 80,018,111 (GRCm39) I1354N probably damaging Het
Ccdc146 T A 5: 21,513,619 (GRCm39) K500* probably null Het
Cdk11b G A 4: 155,732,697 (GRCm39) probably benign Het
Cmip A T 8: 117,984,048 (GRCm39) T70S possibly damaging Het
Col22a1 G T 15: 71,878,815 (GRCm39) A114E probably damaging Het
Cpeb1 T C 7: 81,011,428 (GRCm39) D171G possibly damaging Het
Crebzf C T 7: 90,093,531 (GRCm39) probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
D630036H23Rik C A 12: 36,431,671 (GRCm39) probably benign Het
Dnah5 A T 15: 28,335,864 (GRCm39) T2277S probably benign Het
Dysf T A 6: 84,184,194 (GRCm39) F2083Y probably damaging Het
Elavl4 T A 4: 110,147,440 (GRCm39) probably benign Het
Elp3 A G 14: 65,819,626 (GRCm39) Y111H probably damaging Het
Eps8l2 A T 7: 140,936,259 (GRCm39) Q243L probably benign Het
Eri2 C A 7: 119,385,291 (GRCm39) L403F probably damaging Het
Fgfr4 T A 13: 55,314,700 (GRCm39) N614K probably damaging Het
Gm5108 T G 5: 68,134,214 (GRCm39) I74S unknown Het
Gpn1 T C 5: 31,658,235 (GRCm39) F130L probably damaging Het
Gpr176 T A 2: 118,203,521 (GRCm39) I50F probably benign Het
Gramd1a A G 7: 30,839,246 (GRCm39) S221P probably benign Het
Hivep3 A G 4: 119,954,305 (GRCm39) T874A possibly damaging Het
Igkv12-40 A G 6: 69,856,383 (GRCm39) noncoding transcript Het
Itgb2 C A 10: 77,381,868 (GRCm39) P57T probably damaging Het
Kcmf1 T A 6: 72,819,988 (GRCm39) D286V possibly damaging Het
Kcnt1 T A 2: 25,799,388 (GRCm39) probably benign Het
Kif15 A G 9: 122,846,326 (GRCm39) S76G probably benign Het
Kpna3 C T 14: 61,622,096 (GRCm39) V223I probably damaging Het
Krt80 A G 15: 101,262,089 (GRCm39) probably benign Het
Lama4 A G 10: 38,948,808 (GRCm39) Y857C probably damaging Het
Lcorl G T 5: 45,882,766 (GRCm39) probably benign Het
Map4k3 A G 17: 80,921,348 (GRCm39) V528A probably benign Het
Mmp8 T A 9: 7,563,203 (GRCm39) N255K possibly damaging Het
Npat A T 9: 53,473,521 (GRCm39) K438* probably null Het
Or4a73 T A 2: 89,421,444 (GRCm39) N5I possibly damaging Het
P4htm T C 9: 108,474,582 (GRCm39) Y61C probably damaging Het
Pgap6 T C 17: 26,340,972 (GRCm39) Y692H probably benign Het
Polr3h G T 15: 81,801,480 (GRCm39) probably null Het
Prlr C T 15: 10,322,532 (GRCm39) T176I probably benign Het
Psme4 T G 11: 30,754,294 (GRCm39) F184V possibly damaging Het
Ptgfrn A T 3: 100,967,968 (GRCm39) F542I possibly damaging Het
Rock1 T C 18: 10,116,792 (GRCm39) E448G probably damaging Het
Rpf1 A T 3: 146,225,218 (GRCm39) probably null Het
Sectm1b T C 11: 120,946,500 (GRCm39) I132V probably benign Het
Sestd1 T A 2: 77,017,503 (GRCm39) H688L probably benign Het
Sidt2 T C 9: 45,855,752 (GRCm39) Y530C probably damaging Het
Sin3a A T 9: 57,018,395 (GRCm39) K938M probably damaging Het
Sin3b C A 8: 73,476,506 (GRCm39) R647S probably benign Het
Slc16a14 T C 1: 84,889,988 (GRCm39) H439R possibly damaging Het
Stc1 T C 14: 69,269,822 (GRCm39) V134A probably benign Het
Stk11ip G A 1: 75,501,335 (GRCm39) V24I possibly damaging Het
Tbx6 G A 7: 126,384,025 (GRCm39) A359T possibly damaging Het
Thra G A 11: 98,654,514 (GRCm39) V295I possibly damaging Het
Tpcn2 T A 7: 144,832,521 (GRCm39) I112F probably damaging Het
Trdv2-2 T C 14: 54,198,998 (GRCm39) L96P probably damaging Het
Trim24 T A 6: 37,935,504 (GRCm39) W832R probably damaging Het
Usp4 T G 9: 108,268,959 (GRCm39) S891A probably benign Het
Vmn1r88 A T 7: 12,912,440 (GRCm39) R265S probably benign Het
Vmn2r118 A G 17: 55,931,494 (GRCm39) L60S probably benign Het
Wdr74 T C 19: 8,717,197 (GRCm39) C220R possibly damaging Het
Xpo1 A T 11: 23,218,653 (GRCm39) probably benign Het
Xpo1 A T 11: 23,218,656 (GRCm39) probably benign Het
Zfp850 C A 7: 27,689,620 (GRCm39) G196V probably benign 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
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
R8465:Tnr UTSW 1 159,713,645 (GRCm39) missense probably benign 0.01
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'- AGGGTTCCTGTGCATAATGGG -3'
(R):5'- GAGGGTCTTGAAGGCAGTGAC -3'

Sequencing Primer
(F):5'- CAAGGTATTTGCTGCCCAAG -3'
(R):5'- TCTTGAAGGCAGTGACAAGACAAATC -3'
Posted On 2017-02-28