Incidental Mutation 'R8140:Tnr'
| ID |
632461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnr
|
| Ensembl Gene |
ENSMUSG00000015829 |
| Gene Name |
tenascin R |
| Synonyms |
J1-tenascin, restrictin, janusin, TN-R |
| MMRRC Submission |
067568-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8140 (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 G
at 159691265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 472
(T472A)
|
| 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: T472A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: T472A
| 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 damaging
Transcript: ENSMUST00000192069
AA Change: T472A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: T472A
| 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: ENSMUST00000192457
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 93.9%
|
| Validation Efficiency |
97% (64/66) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,954 (GRCm39) |
V230E |
possibly damaging |
Het |
| Amotl1 |
G |
A |
9: 14,484,011 (GRCm39) |
|
probably null |
Het |
| Atp7b |
C |
A |
8: 22,518,576 (GRCm39) |
E87D |
probably damaging |
Het |
| Bcat2 |
C |
T |
7: 45,237,775 (GRCm39) |
P347L |
probably damaging |
Het |
| Brox |
A |
T |
1: 183,075,437 (GRCm39) |
|
probably null |
Het |
| Cd37 |
A |
G |
7: 44,887,959 (GRCm39) |
I58T |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,252,829 (GRCm39) |
M333K |
probably benign |
Het |
| Chtop |
A |
G |
3: 90,412,700 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
A |
T |
6: 30,544,904 (GRCm39) |
K54N |
probably benign |
Het |
| Cpa6 |
A |
G |
1: 10,395,519 (GRCm39) |
S383P |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,540,748 (GRCm39) |
I2542N |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,090,357 (GRCm39) |
V1179I |
probably benign |
Het |
| Erbin |
T |
C |
13: 104,056,802 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
A |
T |
2: 130,457,170 (GRCm39) |
D473E |
possibly damaging |
Het |
| Fchsd1 |
T |
C |
18: 38,097,395 (GRCm39) |
E372G |
probably damaging |
Het |
| Fgl1 |
T |
C |
8: 41,653,646 (GRCm39) |
|
probably null |
Het |
| Fzd8 |
T |
G |
18: 9,213,797 (GRCm39) |
V293G |
probably damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,925 (GRCm39) |
H411L |
probably benign |
Het |
| Gm49380 |
G |
T |
9: 44,023,269 (GRCm39) |
D326E |
probably benign |
Het |
| Hcrtr1 |
G |
A |
4: 130,029,083 (GRCm39) |
R240C |
probably damaging |
Het |
| Hdac5 |
A |
T |
11: 102,088,181 (GRCm39) |
Y948N |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,295,167 (GRCm39) |
S301G |
probably benign |
Het |
| Htra4 |
A |
T |
8: 25,520,574 (GRCm39) |
D362E |
possibly damaging |
Het |
| Ighv1-9 |
G |
A |
12: 114,547,361 (GRCm39) |
P60L |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,867,390 (GRCm39) |
I751T |
probably damaging |
Het |
| Magi3 |
T |
C |
3: 103,941,402 (GRCm39) |
Y851C |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,531,499 (GRCm39) |
S470P |
probably benign |
Het |
| Mfsd2a |
C |
T |
4: 122,843,091 (GRCm39) |
V397I |
probably benign |
Het |
| Mroh1 |
C |
A |
15: 76,318,073 (GRCm39) |
H867N |
probably benign |
Het |
| Mthfd1l |
C |
T |
10: 3,957,745 (GRCm39) |
R261* |
probably null |
Het |
| Myo3a |
A |
G |
2: 22,412,157 (GRCm39) |
I725M |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,099,552 (GRCm39) |
D4766G |
possibly damaging |
Het |
| Nek11 |
G |
T |
9: 105,270,156 (GRCm39) |
P22Q |
probably damaging |
Het |
| Or4p18 |
T |
C |
2: 88,232,457 (GRCm39) |
T274A |
possibly damaging |
Het |
| Or5k15 |
T |
C |
16: 58,709,948 (GRCm39) |
T212A |
probably benign |
Het |
| Or9q2 |
A |
T |
19: 13,772,603 (GRCm39) |
V124E |
possibly damaging |
Het |
| Peg10 |
C |
G |
6: 4,756,113 (GRCm39) |
Q230E |
unknown |
Het |
| Pipox |
T |
C |
11: 77,774,735 (GRCm39) |
D116G |
probably benign |
Het |
| Pkd1l2 |
C |
T |
8: 117,774,236 (GRCm39) |
R993H |
probably benign |
Het |
| Pkdrej |
A |
C |
15: 85,702,611 (GRCm39) |
N1108K |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,637,202 (GRCm39) |
R291Q |
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,134,309 (GRCm39) |
Y277N |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,126,805 (GRCm39) |
S78P |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,433,252 (GRCm39) |
L171Q |
probably damaging |
Het |
| Sfta2 |
A |
G |
17: 35,912,666 (GRCm39) |
E14G |
unknown |
Het |
| Sh3rf3 |
T |
A |
10: 58,885,177 (GRCm39) |
S353R |
possibly damaging |
Het |
| Slc37a1 |
A |
T |
17: 31,541,233 (GRCm39) |
I242F |
probably damaging |
Het |
| Srfbp1 |
T |
A |
18: 52,621,762 (GRCm39) |
D274E |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,959,127 (GRCm39) |
S685R |
possibly damaging |
Het |
| Tenm4 |
A |
C |
7: 96,544,383 (GRCm39) |
D2170A |
probably damaging |
Het |
| Tspan9 |
T |
C |
6: 127,942,241 (GRCm39) |
H203R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,601,995 (GRCm39) |
T18556A |
possibly damaging |
Het |
| Usp25 |
T |
A |
16: 76,868,569 (GRCm39) |
Y323* |
probably null |
Het |
| Usp31 |
G |
T |
7: 121,248,249 (GRCm39) |
R1065S |
possibly damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,058 (GRCm39) |
T611S |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,864,317 (GRCm39) |
V552A |
|
Het |
| Zap70 |
G |
T |
1: 36,810,262 (GRCm39) |
R124L |
possibly damaging |
Het |
| Zfand6 |
A |
T |
7: 84,281,957 (GRCm39) |
S91T |
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 |
|
|
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 |
|
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'- TCTGCTGACAGTTCATGGGG -3'
(R):5'- CTGGCAGAGTATATCCATTTCCAAG -3'
Sequencing Primer
(F):5'- TTCATGGGGAACAGATGTAGTC -3'
(R):5'- AGAGTATATCCATTTCCAAGTCCCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation