Incidental Mutation 'R4774:Tnr'
ID 367732
Institutional Source Beutler Lab
Gene Symbol Tnr
Ensembl Gene ENSMUSG00000015829
Gene Name tenascin R
Synonyms J1-tenascin, restrictin, janusin, TN-R
MMRRC Submission 042412-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4774 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 159351339-159759299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 159724636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1109 (L1109Q)
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: L1109Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: L1109Q

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: L1109Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: L1109Q

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 0.7685 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (97/99)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,585,043 (GRCm39) I844V probably damaging Het
Acnat1 T A 4: 49,450,784 (GRCm39) Y109F probably benign Het
Alox12b T C 11: 69,054,033 (GRCm39) V205A probably benign Het
Arl6ip1 G A 7: 117,721,208 (GRCm39) R77C probably damaging Het
Atp8b1 A G 18: 64,666,730 (GRCm39) C1156R possibly damaging Het
Atp8b3 A C 10: 80,372,156 (GRCm39) N24K probably damaging Het
Bdh1 T C 16: 31,273,954 (GRCm39) V209A possibly damaging Het
Blm A T 7: 80,113,596 (GRCm39) C1234S probably damaging Het
Caml A G 13: 55,779,740 (GRCm39) D271G possibly damaging Het
Capn11 T C 17: 45,944,006 (GRCm39) D545G probably benign Het
Catspere1 T C 1: 177,765,304 (GRCm39) noncoding transcript Het
Cep128 T C 12: 91,200,969 (GRCm39) E347G probably damaging Het
Cngb3 A G 4: 19,415,713 (GRCm39) T408A possibly damaging Het
Coa8 A G 12: 111,679,823 (GRCm39) T33A possibly damaging Het
Cog1 G A 11: 113,548,253 (GRCm39) R18Q possibly damaging Het
Cps1 T C 1: 67,259,671 (GRCm39) F1338L probably damaging Het
Csmd1 T C 8: 16,059,369 (GRCm39) H2122R probably benign Het
Ctu2 T G 8: 123,207,851 (GRCm39) S26A probably benign Het
Dbf4 G A 5: 8,453,062 (GRCm39) probably benign Het
Ddx23 A T 15: 98,545,116 (GRCm39) D663E probably benign Het
Dpep2 T C 8: 106,717,388 (GRCm39) T123A possibly damaging Het
Eed A G 7: 89,613,976 (GRCm39) I274T probably damaging Het
Eif3b A G 5: 140,405,255 (GRCm39) D47G probably benign Het
Epas1 T C 17: 87,113,186 (GRCm39) V124A probably damaging Het
Fer1l6 T C 15: 58,449,798 (GRCm39) L668P probably damaging Het
Fnip2 C A 3: 79,373,028 (GRCm39) E1017* probably null Het
Gm43517 A T 12: 49,436,690 (GRCm39) probably benign Het
Got1 A G 19: 43,491,345 (GRCm39) probably null Het
H2-Eb2 T A 17: 34,553,375 (GRCm39) V187E probably damaging Het
H2-Q1 T C 17: 35,540,242 (GRCm39) probably benign Het
Hpgd T C 8: 56,751,454 (GRCm39) V94A probably damaging Het
Htra1 T A 7: 130,586,756 (GRCm39) N446K probably benign Het
Igkv3-4 T A 6: 70,649,269 (GRCm39) S89R probably damaging Het
Immt C T 6: 71,829,720 (GRCm39) T142I probably damaging Het
Itpkb C A 1: 180,245,759 (GRCm39) P759T probably damaging Het
Jmjd1c G A 10: 67,060,571 (GRCm39) V688I possibly damaging Het
Kbtbd13 G T 9: 65,298,025 (GRCm39) R304S probably benign Het
Lama5 A C 2: 179,827,734 (GRCm39) L2176R probably damaging Het
Lrp1b G C 2: 40,551,544 (GRCm39) L418V probably null Het
Lrrc4b C A 7: 44,111,796 (GRCm39) probably null Het
Lyst A G 13: 13,915,182 (GRCm39) N3292S probably damaging Het
Mep1b A T 18: 21,219,241 (GRCm39) I132F probably benign Het
Mettl2 A G 11: 105,017,436 (GRCm39) probably null Het
Nherf2 T C 17: 24,863,873 (GRCm39) M1V probably null Het
Niban1 A T 1: 151,591,445 (GRCm39) D529V probably damaging Het
Nmd3 T C 3: 69,652,569 (GRCm39) L385S probably benign Het
Nol4 T C 18: 23,045,683 (GRCm39) E243G probably damaging Het
Odad1 T A 7: 45,597,804 (GRCm39) S571R probably damaging Het
Or4l1 T A 14: 50,166,726 (GRCm39) I92F probably damaging Het
Or51k1 A G 7: 103,661,795 (GRCm39) I38T probably benign Het
Or5j3 A T 2: 86,129,042 (GRCm39) N294I possibly damaging Het
Or8b52 A G 9: 38,576,519 (GRCm39) I207T probably benign Het
Pcnp A G 16: 55,837,522 (GRCm39) probably benign Het
Pla2g6 A C 15: 79,171,818 (GRCm39) C680G probably damaging Het
Plekha7 G T 7: 115,744,178 (GRCm39) D661E probably damaging Het
Prim1 A T 10: 127,862,887 (GRCm39) probably benign Het
Psg29 T A 7: 16,944,460 (GRCm39) N323K probably benign Het
Ptrh2 G A 11: 86,580,833 (GRCm39) R150H probably damaging Het
Rasa1 A G 13: 85,398,621 (GRCm39) probably benign Het
Rasa3 T C 8: 13,627,501 (GRCm39) D667G probably benign Het
Rnase2a T C 14: 51,493,201 (GRCm39) N55D probably damaging Het
Rsf1 GCGGCGGCGGCGGCGGCGGC GCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,123 (GRCm39) probably benign Het
Sbp T A 17: 24,164,218 (GRCm39) N133K probably damaging Het
Scml4 A G 10: 42,833,743 (GRCm39) probably benign Het
Sema5b T A 16: 35,483,552 (GRCm39) N1063K probably damaging Het
Serpind1 C T 16: 17,154,272 (GRCm39) T33M probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc15a2 A T 16: 36,602,057 (GRCm39) L80* probably null Het
Sorcs3 A G 19: 48,782,602 (GRCm39) D1039G probably benign Het
Spon1 A G 7: 113,639,102 (GRCm39) E776G probably damaging Het
Tdp1 C T 12: 99,868,623 (GRCm39) A259V possibly damaging Het
Tex46 C A 4: 136,337,991 (GRCm39) P61Q probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpra1 G A 6: 88,887,661 (GRCm39) probably benign Het
Trim43c A T 9: 88,729,705 (GRCm39) H383L possibly damaging Het
Trip6 A G 5: 137,308,433 (GRCm39) C439R probably damaging Het
Tsen2 C T 6: 115,552,894 (GRCm39) S398L possibly damaging Het
Tubgcp2 T C 7: 139,576,074 (GRCm39) D863G probably damaging Het
Ube2d2a A G 18: 35,903,498 (GRCm39) probably benign Het
Umad1 T A 6: 8,427,181 (GRCm39) F145I probably damaging Het
Unc5c A T 3: 141,534,278 (GRCm39) E933V probably damaging Het
Vmn1r208 A G 13: 22,956,646 (GRCm39) F284L probably benign Het
Vmn2r53 T A 7: 12,334,692 (GRCm39) R323* probably null Het
Zan G A 5: 137,387,281 (GRCm39) T4924I unknown Het
Zfp597 G T 16: 3,683,851 (GRCm39) Q302K 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
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
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'- GTTTCCTCCTTACTATGGGGCG -3'
(R):5'- GGGATTTTCTACCAAGGCCTTG -3'

Sequencing Primer
(F):5'- CCTTACTATGGGGCGGGGAG -3'
(R):5'- CAAGGCCTTGGGAAAGGG -3'
Posted On 2015-12-29