Incidental Mutation 'R6218:Tnr'
| ID |
503818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnr
|
| Ensembl Gene |
ENSMUSG00000015829 |
| Gene Name |
tenascin R |
| Synonyms |
J1-tenascin, restrictin, janusin, TN-R |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6218 (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 159715884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 882
(V882A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111669]
[ENSMUST00000192069]
|
| AlphaFold |
Q8BYI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111669
AA Change: V882A
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: V882A
| 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 |
possibly damaging
Transcript: ENSMUST00000192069
AA Change: V882A
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: V882A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (65/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
G |
T |
11: 99,728,730 (GRCm39) |
Q38K |
probably benign |
Het |
| 9930111J21Rik2 |
A |
T |
11: 48,910,134 (GRCm39) |
N766K |
probably benign |
Het |
| Adam15 |
A |
C |
3: 89,251,190 (GRCm39) |
I505S |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,142,254 (GRCm39) |
M391T |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bclaf1 |
A |
G |
10: 20,210,374 (GRCm39) |
S840G |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,216,021 (GRCm39) |
Y96C |
probably damaging |
Het |
| Cald1 |
CAAAA |
CAAA |
6: 34,724,863 (GRCm39) |
|
probably null |
Het |
| Ddhd1 |
A |
G |
14: 45,851,633 (GRCm39) |
L141P |
probably damaging |
Het |
| Dnaaf3 |
A |
T |
7: 4,526,671 (GRCm39) |
S469T |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,778,828 (GRCm39) |
M323K |
possibly damaging |
Het |
| Eci2 |
T |
A |
13: 35,177,048 (GRCm39) |
|
probably null |
Het |
| Fam227b |
A |
T |
2: 125,968,882 (GRCm39) |
V64E |
probably damaging |
Het |
| Galnt2 |
A |
G |
8: 125,070,054 (GRCm39) |
I524V |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm3443 |
T |
A |
19: 21,533,110 (GRCm39) |
S25T |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,761,616 (GRCm39) |
K14* |
probably null |
Het |
| Grip1 |
T |
C |
10: 119,822,251 (GRCm39) |
S405P |
possibly damaging |
Het |
| Helz2 |
T |
C |
2: 180,877,738 (GRCm39) |
H1020R |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,087 (GRCm39) |
V2136L |
probably benign |
Het |
| Il36rn |
G |
A |
2: 24,167,502 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
T |
A |
6: 90,666,617 (GRCm39) |
S607C |
probably damaging |
Het |
| Irag1 |
G |
A |
7: 110,476,112 (GRCm39) |
T819M |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,205,801 (GRCm39) |
Y373* |
probably null |
Het |
| L3mbtl3 |
T |
C |
10: 26,168,645 (GRCm39) |
I595V |
unknown |
Het |
| Large2 |
T |
C |
2: 92,200,981 (GRCm39) |
D65G |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,009,881 (GRCm39) |
Y122H |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,569,714 (GRCm39) |
D1002E |
unknown |
Het |
| Mink1 |
C |
T |
11: 70,489,720 (GRCm39) |
T59I |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 32,092,507 (GRCm39) |
N2097D |
probably benign |
Het |
| Nbea |
C |
A |
3: 55,535,905 (GRCm39) |
C2893F |
probably damaging |
Het |
| Nlgn1 |
A |
T |
3: 25,490,257 (GRCm39) |
V490E |
probably damaging |
Het |
| Or2w1b |
G |
A |
13: 21,300,401 (GRCm39) |
E180K |
probably damaging |
Het |
| Or2y3 |
A |
G |
17: 38,393,620 (GRCm39) |
M83T |
probably damaging |
Het |
| Or4c123 |
G |
T |
2: 89,127,306 (GRCm39) |
H103N |
probably damaging |
Het |
| Or4f62 |
T |
C |
2: 111,986,701 (GRCm39) |
I135T |
probably damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,135 (GRCm39) |
D180Y |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,878,144 (GRCm39) |
I130T |
probably benign |
Het |
| Pdcl3 |
T |
C |
1: 39,027,152 (GRCm39) |
|
probably null |
Het |
| Pheta2 |
T |
A |
15: 82,227,917 (GRCm39) |
H145Q |
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,897,031 (GRCm39) |
S602T |
possibly damaging |
Het |
| Pkp1 |
T |
C |
1: 135,807,646 (GRCm39) |
K541E |
probably damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,898,992 (GRCm39) |
V990I |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,430 (GRCm39) |
V828D |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,098,823 (GRCm39) |
Y712H |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,098,926 (GRCm39) |
S1477P |
probably benign |
Het |
| Psma5 |
A |
G |
3: 108,187,118 (GRCm39) |
K239R |
probably benign |
Het |
| Rhobtb1 |
G |
C |
10: 69,106,286 (GRCm39) |
A284P |
probably benign |
Het |
| Samsn1 |
G |
A |
16: 75,742,162 (GRCm39) |
|
noncoding transcript |
Het |
| Scel |
A |
G |
14: 103,809,478 (GRCm39) |
T273A |
probably benign |
Het |
| Slc22a5 |
T |
A |
11: 53,782,444 (GRCm39) |
|
probably benign |
Het |
| Slc25a37 |
A |
T |
14: 69,486,953 (GRCm39) |
M110K |
possibly damaging |
Het |
| Slc6a2 |
A |
T |
8: 93,708,609 (GRCm39) |
M242L |
probably benign |
Het |
| Slc8a3 |
C |
A |
12: 81,246,341 (GRCm39) |
W904L |
probably benign |
Het |
| Ss18l1 |
G |
A |
2: 179,696,905 (GRCm39) |
V109I |
probably benign |
Het |
| Tbx5 |
C |
T |
5: 119,991,663 (GRCm39) |
H245Y |
probably damaging |
Het |
| Thumpd2 |
C |
A |
17: 81,360,342 (GRCm39) |
L244F |
probably damaging |
Het |
| Tmem107 |
T |
A |
11: 68,962,241 (GRCm39) |
V66E |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttbk1 |
A |
G |
17: 46,781,733 (GRCm39) |
V340A |
possibly damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,481 (GRCm39) |
E59G |
probably damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,983 (GRCm39) |
M299K |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,770,610 (GRCm39) |
Y2018H |
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,818,436 (GRCm39) |
E620G |
probably benign |
Het |
| Zfp418 |
A |
G |
7: 7,185,627 (GRCm39) |
H530R |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,581 (GRCm39) |
A10T |
possibly damaging |
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 |
|
|
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'- TATGTAGGGTCATGCCTGCCTG -3'
(R):5'- AAGTTGGTGAACTCATGGTTTCTC -3'
Sequencing Primer
(F):5'- CCTGAGGGACACTAGTGGATC -3'
(R):5'- CACTCTCATTTTGAGGAAGTATGG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation