Incidental Mutation 'R9127:Tnr'
ID 693294
Institutional Source Beutler Lab
Gene Symbol Tnr
Ensembl Gene ENSMUSG00000015829
Gene Name tenascin R
Synonyms J1-tenascin, restrictin, janusin, TN-R
MMRRC Submission 068926-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9127 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 159351339-159759299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 159713680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 703 (S703P)
Ref Sequence ENSEMBL: ENSMUSP00000141553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111669] [ENSMUST00000192069]
AlphaFold Q8BYI9
Predicted Effect
SMART Domains Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: S703P

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: S703P

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: S703P

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 0.3344 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (82/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,242,080 (GRCm39) D1314E probably benign Het
Abcb1a A T 5: 8,724,707 (GRCm39) R47W probably benign Het
Abcc6 T C 7: 45,629,184 (GRCm39) N1354S probably damaging Het
Abracl T C 10: 17,887,444 (GRCm39) Y61C probably damaging Het
Adamtsl1 A G 4: 86,208,027 (GRCm39) T633A probably benign Het
Agap3 G A 5: 24,681,439 (GRCm39) probably benign Het
Ago4 A T 4: 126,400,904 (GRCm39) M647K probably damaging Het
Akap7 G T 10: 25,155,676 (GRCm39) S72R unknown Het
Arhgef12 A G 9: 42,885,870 (GRCm39) L1251S possibly damaging Het
Astn2 A T 4: 66,322,164 (GRCm39) V145E unknown Het
Atxn2l A T 7: 126,097,393 (GRCm39) S304R probably damaging Het
Cd226 A T 18: 89,287,155 (GRCm39) I318F probably damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cfap65 A T 1: 74,958,510 (GRCm39) probably benign Het
Cfap96 T G 8: 46,415,403 (GRCm39) D201A probably benign Het
Chtf8 A G 8: 107,613,640 (GRCm39) V18A probably benign Het
Cit G T 5: 116,074,896 (GRCm39) E683* probably null Het
Ckmt2 T C 13: 92,007,337 (GRCm39) R286G probably damaging Het
Clec4a2 T A 6: 123,116,218 (GRCm39) W128R probably damaging Het
Clec4n T G 6: 123,212,447 (GRCm39) S88A probably damaging Het
Cndp2 G A 18: 84,699,121 (GRCm39) A48V probably benign Het
Csmd1 T C 8: 16,273,286 (GRCm39) T849A probably benign Het
Cts3 A T 13: 61,715,235 (GRCm39) Y199* probably null Het
Dag1 A T 9: 108,085,734 (GRCm39) L469* probably null Het
Dclre1c T C 2: 3,439,125 (GRCm39) V225A Het
Dedd A G 1: 171,166,409 (GRCm39) D115G probably damaging Het
Efcab3 T A 11: 104,741,407 (GRCm39) V2166D probably benign Het
Eif2ak3 T A 6: 70,860,704 (GRCm39) W427R probably damaging Het
Fbln2 T A 6: 91,210,473 (GRCm39) V139D probably damaging Het
Fbn1 A T 2: 125,223,985 (GRCm39) M588K possibly damaging Het
Gm17019 A T 5: 15,081,113 (GRCm39) Y109* probably null Het
Gm32742 T A 9: 51,056,015 (GRCm39) N1255Y probably damaging Het
Gm5431 T A 11: 48,779,600 (GRCm39) K441* probably null Het
Golga2 A G 2: 32,196,079 (GRCm39) D898G Het
Gramd4 G A 15: 85,975,525 (GRCm39) R39H probably benign Het
Gucy1a2 A G 9: 3,634,553 (GRCm39) N199S probably damaging Het
Heyl G A 4: 123,139,885 (GRCm39) R148H probably damaging Het
Ifi208 A T 1: 173,523,400 (GRCm39) M557L probably benign Het
Igf2r A G 17: 12,958,238 (GRCm39) V145A probably damaging Het
Ighv1-4 A T 12: 114,450,879 (GRCm39) Y76* probably null Het
Ikzf4 T C 10: 128,468,487 (GRCm39) D664G unknown Het
Il1a T A 2: 129,146,715 (GRCm39) Y126F possibly damaging Het
Lmf2 C A 15: 89,239,771 (GRCm39) probably benign Het
Lyst T C 13: 13,808,827 (GRCm39) S166P probably damaging Het
Mgat5 A C 1: 127,294,197 (GRCm39) T180P probably benign Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Mov10 G T 3: 104,711,659 (GRCm39) Y209* probably null Het
Nol8 T C 13: 49,815,475 (GRCm39) Y528H probably benign Het
Numa1 T A 7: 101,641,869 (GRCm39) S106T possibly damaging Het
Or1e1d-ps1 A T 11: 73,819,167 (GRCm39) E39V probably damaging Het
Or4c124 G A 2: 89,156,474 (GRCm39) Q17* probably null Het
Or5b107 A G 19: 13,142,396 (GRCm39) N6S probably damaging Het
Or7g27 A G 9: 19,250,026 (GRCm39) H90R probably benign Het
Pcdhb14 A G 18: 37,582,091 (GRCm39) N399S probably damaging Het
Plcl2 T A 17: 50,918,032 (GRCm39) S944T probably benign Het
Pml A T 9: 58,127,660 (GRCm39) I695N probably benign Het
Ppard G T 17: 28,505,349 (GRCm39) R12L unknown Het
Ppip5k1 C T 2: 121,158,125 (GRCm39) probably null Het
Ppp1r3g T C 13: 36,152,621 (GRCm39) S14P probably benign Het
Pramel55 A G 5: 95,951,623 (GRCm39) Y470C probably damaging Het
Prrc2b C A 2: 32,103,764 (GRCm39) R1081S probably damaging Het
Rasgrp2 A T 19: 6,454,438 (GRCm39) E160D possibly damaging Het
Rb1cc1 G A 1: 6,333,073 (GRCm39) V1331I probably damaging Het
Rnd3 A T 2: 51,022,413 (GRCm39) S210T probably benign Het
Scaf11 T C 15: 96,312,764 (GRCm39) T1426A probably benign Het
Sin3b C T 8: 73,460,034 (GRCm39) T207I possibly damaging Het
Slc26a7 A T 4: 14,593,873 (GRCm39) Y81N probably damaging Het
Slc28a3 C T 13: 58,724,581 (GRCm39) M224I probably benign Het
Slc30a1 T C 1: 191,639,342 (GRCm39) I75T probably damaging Het
Slc6a21 T A 7: 44,929,674 (GRCm39) probably benign Het
Slco2a1 T A 9: 102,945,243 (GRCm39) L206Q probably damaging Het
Spata31d1e A G 13: 59,890,828 (GRCm39) S331P probably benign Het
Sptbn1 A G 11: 30,104,356 (GRCm39) V116A probably damaging Het
Syngap1 G A 17: 27,181,095 (GRCm39) D1008N probably damaging Het
Syt11 T C 3: 88,669,643 (GRCm39) D83G probably benign Het
Syt14 G A 1: 192,584,131 (GRCm39) T428I probably damaging Het
Taf15 T A 11: 83,395,085 (GRCm39) Y338* probably null Het
Tfap4 A T 16: 4,365,183 (GRCm39) M253K possibly damaging Het
Trrap G A 5: 144,767,830 (GRCm39) D2577N probably benign Het
Uqcc6 A T 10: 82,458,588 (GRCm39) M21K probably benign Het
Wdr20 C T 12: 110,759,597 (GRCm39) S161L possibly damaging Het
Zfp503 C A 14: 22,037,418 (GRCm39) V62L 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
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
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'- GTCAGTGTGAAATAGGCCAATTG -3'
(R):5'- ATCCACAGTAGACTCCAGGCTC -3'

Sequencing Primer
(F):5'- GCCTGTAATCTCACACTTAGGAGG -3'
(R):5'- AGTAGACTCCAGGCTCTGCTG -3'
Posted On 2022-01-20