Incidental Mutation 'R7587:Tnr'
ID |
587186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnr
|
Ensembl Gene |
ENSMUSG00000015829 |
Gene Name |
tenascin R |
Synonyms |
J1-tenascin, restrictin, janusin, TN-R |
MMRRC Submission |
045712-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7587 (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 A
at 159713778 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 735
(D735E)
|
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: D735E
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000107298 Gene: ENSMUSG00000015829 AA Change: D735E
Domain | Start | End | E-Value | Type |
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: D735E
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000141553 Gene: ENSMUSG00000015829 AA Change: D735E
Domain | Start | End | E-Value | Type |
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (63/63) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
T |
C |
3: 116,585,736 (GRCm39) |
T131A |
probably damaging |
Het |
Asah1 |
A |
T |
8: 41,827,578 (GRCm39) |
V15D |
probably benign |
Het |
Asic1 |
A |
C |
15: 99,593,471 (GRCm39) |
Q276P |
probably damaging |
Het |
Atl2 |
A |
T |
17: 80,172,496 (GRCm39) |
V158E |
probably benign |
Het |
Atrn |
T |
A |
2: 130,822,034 (GRCm39) |
I909N |
probably damaging |
Het |
BC034090 |
A |
G |
1: 155,093,232 (GRCm39) |
V742A |
probably damaging |
Het |
Capzb |
T |
A |
4: 138,989,334 (GRCm39) |
D85E |
possibly damaging |
Het |
Cdh20 |
T |
C |
1: 104,869,004 (GRCm39) |
F165S |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,224,469 (GRCm39) |
E59G |
probably benign |
Het |
Clpsl2 |
G |
A |
17: 28,768,515 (GRCm39) |
V10I |
probably benign |
Het |
D630003M21Rik |
T |
A |
2: 158,042,976 (GRCm39) |
S855C |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,038,308 (GRCm39) |
Y1046C |
probably benign |
Het |
D6Wsu163e |
A |
G |
6: 126,932,859 (GRCm39) |
I361V |
probably benign |
Het |
Dchs2 |
A |
G |
3: 83,211,822 (GRCm39) |
I1874V |
probably benign |
Het |
Dennd2a |
T |
G |
6: 39,460,069 (GRCm39) |
K679Q |
probably damaging |
Het |
Dio2 |
A |
G |
12: 90,696,334 (GRCm39) |
V218A |
probably benign |
Het |
Gpr107 |
A |
T |
2: 31,058,838 (GRCm39) |
K109N |
probably benign |
Het |
Gpr108 |
C |
T |
17: 57,543,732 (GRCm39) |
R448Q |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,681,288 (GRCm39) |
V932A |
probably damaging |
Het |
Kcnj8 |
T |
C |
6: 142,512,065 (GRCm39) |
T181A |
probably damaging |
Het |
Kdm3b |
A |
G |
18: 34,930,080 (GRCm39) |
|
probably null |
Het |
Lipc |
A |
G |
9: 70,726,206 (GRCm39) |
Y168H |
probably damaging |
Het |
Lipi |
C |
T |
16: 75,347,103 (GRCm39) |
V439M |
probably benign |
Het |
Lpp |
A |
T |
16: 24,581,029 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
G |
2: 40,620,729 (GRCm39) |
D3583A |
|
Het |
Ltbr |
T |
C |
6: 125,289,315 (GRCm39) |
T165A |
probably benign |
Het |
Mroh3 |
A |
G |
1: 136,118,736 (GRCm39) |
I527T |
probably benign |
Het |
Mylk |
A |
G |
16: 34,742,887 (GRCm39) |
E1133G |
probably benign |
Het |
Nat3 |
T |
C |
8: 68,000,226 (GRCm39) |
I35T |
probably damaging |
Het |
Ncbp3 |
T |
C |
11: 72,957,591 (GRCm39) |
|
probably null |
Het |
Nedd1 |
G |
A |
10: 92,534,592 (GRCm39) |
T306M |
probably benign |
Het |
Nexn |
T |
C |
3: 151,952,815 (GRCm39) |
R316G |
probably benign |
Het |
Nox4 |
A |
G |
7: 86,966,510 (GRCm39) |
H207R |
probably damaging |
Het |
Nsun6 |
T |
C |
2: 15,044,636 (GRCm39) |
Q110R |
probably benign |
Het |
Or1e1b-ps1 |
C |
T |
11: 73,846,010 (GRCm39) |
Q165* |
probably null |
Het |
Or52n2c |
C |
T |
7: 104,574,263 (GRCm39) |
R236H |
probably benign |
Het |
Or7g32 |
T |
A |
9: 19,408,818 (GRCm39) |
V258E |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,678,701 (GRCm39) |
D905G |
probably damaging |
Het |
Pepd |
T |
C |
7: 34,668,965 (GRCm39) |
L195S |
probably damaging |
Het |
Pms1 |
A |
G |
1: 53,246,475 (GRCm39) |
S355P |
probably benign |
Het |
Pop1 |
A |
T |
15: 34,502,559 (GRCm39) |
K82M |
probably damaging |
Het |
Ppp1r9b |
T |
A |
11: 94,892,766 (GRCm39) |
D655E |
possibly damaging |
Het |
Ppt2 |
A |
G |
17: 34,845,777 (GRCm39) |
|
probably null |
Het |
Pramel57 |
A |
G |
5: 95,669,270 (GRCm39) |
T100A |
probably damaging |
Het |
Prss35 |
T |
A |
9: 86,637,427 (GRCm39) |
C66S |
probably damaging |
Het |
Rfc3 |
A |
T |
5: 151,574,616 (GRCm39) |
M1K |
probably null |
Het |
Rffl |
T |
C |
11: 82,700,974 (GRCm39) |
D284G |
probably damaging |
Het |
Robo3 |
T |
C |
9: 37,340,942 (GRCm39) |
D110G |
probably damaging |
Het |
Rtel1 |
G |
A |
2: 180,964,108 (GRCm39) |
V36M |
probably damaging |
Het |
Slc1a7 |
T |
A |
4: 107,867,683 (GRCm39) |
I457K |
possibly damaging |
Het |
Smco1 |
A |
G |
16: 32,092,541 (GRCm39) |
M71V |
probably benign |
Het |
Snrnp200 |
G |
A |
2: 127,069,822 (GRCm39) |
S989N |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,713,305 (GRCm39) |
I356F |
probably damaging |
Het |
Stk24 |
C |
T |
14: 121,539,699 (GRCm39) |
A166T |
probably damaging |
Het |
Tada2b |
T |
C |
5: 36,634,111 (GRCm39) |
I156V |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,618,849 (GRCm39) |
K2251E |
possibly damaging |
Het |
Tbce |
C |
T |
13: 14,194,327 (GRCm39) |
V111M |
probably damaging |
Het |
Tlnrd1 |
A |
G |
7: 83,532,155 (GRCm39) |
L92P |
probably damaging |
Het |
Tram1 |
T |
C |
1: 13,649,771 (GRCm39) |
H110R |
probably damaging |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Unc5b |
C |
T |
10: 60,618,899 (GRCm39) |
C81Y |
probably damaging |
Het |
Vps13a |
G |
A |
19: 16,681,153 (GRCm39) |
T1041M |
probably benign |
Het |
|
Other mutations in Tnr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GTCAGTGTGAAATAGGCCAATTG -3'
(R):5'- GACTGGGACATCTGAATCACC -3'
Sequencing Primer
(F):5'- GCCTGTAATCTCACACTTAGGAGG -3'
(R):5'- TGGGACATCTGAATCACCTCATG -3'
|
Posted On |
2019-10-24 |