Incidental Mutation 'R8804:Tnr'
ID 671888
Institutional Source Beutler Lab
Gene Symbol Tnr
Ensembl Gene ENSMUSG00000015829
Gene Name tenascin R
Synonyms J1-tenascin, restrictin, janusin, TN-R
MMRRC Submission 068641-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8804 (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 T at 159685882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 371 (Q371L)
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: Q371L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: Q371L

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: Q371L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: Q371L

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: ENSMUST00000192457
AA Change: Q95L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (79/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik T C 3: 19,682,820 (GRCm39) probably benign Het
Adamts1 A G 16: 85,599,300 (GRCm39) F100S probably damaging Het
Adamts5 A G 16: 85,666,800 (GRCm39) probably benign Het
Adgrb2 T A 4: 129,899,212 (GRCm39) W309R probably damaging Het
Adgrl2 A T 3: 148,552,652 (GRCm39) V617E probably damaging Het
Akt1 T C 12: 112,625,041 (GRCm39) E169G probably damaging Het
Arhgap40 A G 2: 158,389,626 (GRCm39) T600A probably benign Het
B4galt3 C T 1: 171,103,947 (GRCm39) H395Y probably benign Het
BC024139 T G 15: 76,008,284 (GRCm39) T376P possibly damaging Het
Bin3 A G 14: 70,361,296 (GRCm39) R22G probably damaging Het
Cadps2 A T 6: 23,496,805 (GRCm39) I480N probably damaging Het
Camsap3 A G 8: 3,652,624 (GRCm39) T401A probably benign Het
Ccdc168 T C 1: 44,095,809 (GRCm39) N1763S probably benign Het
Cdhr5 T C 7: 140,849,320 (GRCm39) T747A probably benign Het
Chn2 A G 6: 54,250,061 (GRCm39) I193V probably benign Het
Clca3b T C 3: 144,544,898 (GRCm39) N363S probably benign Het
Clec7a T C 6: 129,442,518 (GRCm39) T125A probably benign Het
Cys1 A T 12: 24,718,610 (GRCm39) L81Q unknown Het
Dcbld2 G A 16: 58,281,412 (GRCm39) probably benign Het
Ddx60 T A 8: 62,411,640 (GRCm39) D497E probably benign Het
Dnah2 T C 11: 69,356,511 (GRCm39) I2117V probably benign Het
Dnah6 G A 6: 73,042,756 (GRCm39) S3274F probably benign Het
Dock9 A T 14: 121,842,595 (GRCm39) I1225N probably damaging Het
Egfr A G 11: 16,819,339 (GRCm39) T290A probably benign Het
Elmod2 T A 8: 84,046,150 (GRCm39) K142N probably benign Het
Ephx2 T C 14: 66,324,469 (GRCm39) T441A probably benign Het
Fam234a A G 17: 26,435,531 (GRCm39) probably benign Het
Fer1l4 C A 2: 155,893,914 (GRCm39) E102D probably benign Het
Fermt3 A G 19: 6,991,694 (GRCm39) probably benign Het
Fgd5 C T 6: 91,964,507 (GRCm39) R247C probably benign Het
Gm14443 G A 2: 175,011,652 (GRCm39) H265Y probably damaging Het
Gykl1 A G 18: 52,827,608 (GRCm39) D272G probably benign Het
Hip1r T C 5: 124,139,575 (GRCm39) S952P possibly damaging Het
Hmcn2 A G 2: 31,315,393 (GRCm39) N3714S probably benign Het
Ighv1-36 G T 12: 114,843,581 (GRCm39) T93K probably benign Het
Igsf10 T G 3: 59,243,876 (GRCm39) T153P probably damaging Het
Kif13b T C 14: 64,987,791 (GRCm39) C773R probably damaging Het
Lipf T A 19: 33,942,198 (GRCm39) Y43N probably damaging Het
Mlh1 T C 9: 111,093,972 (GRCm39) D90G probably damaging Het
Msh5 A T 17: 35,251,830 (GRCm39) I410K probably benign Het
Mylk3 T C 8: 86,085,874 (GRCm39) D220G probably benign Het
Ncdn G A 4: 126,643,898 (GRCm39) A308V probably benign Het
Nfu1 T A 6: 86,993,414 (GRCm39) probably benign Het
Nup153 A G 13: 46,840,635 (GRCm39) V991A probably benign Het
Nup188 T A 2: 30,220,891 (GRCm39) H960Q probably benign Het
Parp4 G T 14: 56,853,900 (GRCm39) E839* probably null Het
Pfas T C 11: 68,881,908 (GRCm39) N30D Het
Pitpnc1 T A 11: 107,103,431 (GRCm39) N223Y probably damaging Het
Plaat1 T A 16: 29,039,205 (GRCm39) V95E probably benign Het
Plod1 C T 4: 147,997,778 (GRCm39) V644I probably damaging Het
Pou2f1 T C 1: 165,708,039 (GRCm39) T548A unknown Het
Psg20 A T 7: 18,416,584 (GRCm39) N177K possibly damaging Het
Psmb8 T A 17: 34,419,225 (GRCm39) I173N probably damaging Het
Rimkla G A 4: 119,325,273 (GRCm39) Q379* probably null Het
Rnasel G T 1: 153,629,661 (GRCm39) G59V probably damaging Het
Rptn A T 3: 93,303,150 (GRCm39) D161V probably damaging Het
Scrt1 C A 15: 76,403,411 (GRCm39) C193F unknown Het
Sdk2 G T 11: 113,763,978 (GRCm39) Y269* probably null Het
Sfxn2 G C 19: 46,574,243 (GRCm39) probably benign Het
Slc17a4 G T 13: 24,087,245 (GRCm39) T264K probably benign Het
Slfn8 T A 11: 82,907,639 (GRCm39) Q301H possibly damaging Het
Sntb1 G A 15: 55,655,523 (GRCm39) S231F probably benign Het
Spag17 T A 3: 99,874,506 (GRCm39) S137T probably benign Het
Srd5a2 A T 17: 74,354,629 (GRCm39) V65E possibly damaging Het
Stk11ip A G 1: 75,511,900 (GRCm39) H967R probably benign Het
Sun1 A G 5: 139,216,920 (GRCm39) T320A probably benign Het
Svep1 A G 4: 58,206,043 (GRCm39) S112P possibly damaging Het
Tacc2 T C 7: 130,294,693 (GRCm39) L15P probably benign Het
Tas2r140 T A 6: 133,032,326 (GRCm39) N144I probably damaging Het
Thpo T A 16: 20,544,707 (GRCm39) R174S probably damaging Het
Tnik A T 3: 28,648,202 (GRCm39) Q418L unknown Het
Tulp2 G A 7: 45,170,398 (GRCm39) R439Q probably damaging Het
Uchl4 G T 9: 64,142,606 (GRCm39) W29L probably damaging Het
Vrk3 T A 7: 44,407,270 (GRCm39) C80* probably null Het
Washc4 T C 10: 83,408,015 (GRCm39) L540P probably damaging Het
Wscd1 T C 11: 71,675,161 (GRCm39) F356S probably damaging Het
Wwc1 A T 11: 35,774,144 (GRCm39) M372K probably benign Het
Zfhx2 A G 14: 55,312,191 (GRCm39) F168L probably benign Het
Zfp28 A G 7: 6,393,399 (GRCm39) D175G 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
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
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'- AGAAACTTGAGTCCGGGCTG -3'
(R):5'- AAAGACACTACTTTCATGAATGCCC -3'

Sequencing Primer
(F):5'- GAATGGCAATCCTCTGAGCTCATG -3'
(R):5'- CCCATGATCTCATGTAGGAG -3'
Posted On 2021-04-30