Incidental Mutation 'R2021:Tnr'
| ID |
223922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnr
|
| Ensembl Gene |
ENSMUSG00000015829 |
| Gene Name |
tenascin R |
| Synonyms |
J1-tenascin, restrictin, janusin, TN-R |
| MMRRC Submission |
040030-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2021 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
159351339-159759299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 159679592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 189
(I189V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111669]
[ENSMUST00000192069]
[ENSMUST00000193325]
|
| AlphaFold |
Q8BYI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111669
AA Change: I189V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: I189V
| 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: I189V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: I189V
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193325
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,035,450 (GRCm39) |
S316T |
probably damaging |
Het |
| Alox8 |
C |
T |
11: 69,077,114 (GRCm39) |
V460I |
probably damaging |
Het |
| Aoc1l2 |
T |
C |
6: 48,908,385 (GRCm39) |
S462P |
probably damaging |
Het |
| Arvcf |
G |
A |
16: 18,218,482 (GRCm39) |
A491T |
probably damaging |
Het |
| Asnsd1 |
A |
G |
1: 53,386,386 (GRCm39) |
S414P |
possibly damaging |
Het |
| Btbd7 |
A |
G |
12: 102,756,968 (GRCm39) |
L706P |
probably damaging |
Het |
| Camk2d |
T |
A |
3: 126,574,105 (GRCm39) |
W171R |
probably damaging |
Het |
| Casc3 |
T |
A |
11: 98,712,332 (GRCm39) |
S124T |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm39) |
V1211A |
probably benign |
Het |
| Ccdc182 |
T |
C |
11: 88,184,962 (GRCm39) |
V14A |
possibly damaging |
Het |
| Ccdc80 |
A |
T |
16: 44,943,275 (GRCm39) |
Q795L |
probably damaging |
Het |
| Ccdc88a |
T |
G |
11: 29,453,480 (GRCm39) |
S1614R |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,822,114 (GRCm39) |
A1170T |
possibly damaging |
Het |
| Clcn6 |
A |
G |
4: 148,095,109 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,313,360 (GRCm39) |
V3070A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,205,372 (GRCm39) |
V1025I |
possibly damaging |
Het |
| Dynlt4 |
A |
G |
4: 116,985,504 (GRCm39) |
E109G |
possibly damaging |
Het |
| Elk3 |
T |
A |
10: 93,101,539 (GRCm39) |
I71F |
probably damaging |
Het |
| Flt3 |
A |
T |
5: 147,306,300 (GRCm39) |
I276N |
probably damaging |
Het |
| Frem1 |
G |
T |
4: 82,831,795 (GRCm39) |
T1988K |
probably benign |
Het |
| Golph3l |
T |
A |
3: 95,524,668 (GRCm39) |
D306E |
probably benign |
Het |
| Grk2 |
T |
A |
19: 4,340,698 (GRCm39) |
I254F |
probably damaging |
Het |
| Hgf |
C |
T |
5: 16,781,919 (GRCm39) |
T214I |
probably benign |
Het |
| Hoxc5 |
C |
A |
15: 102,922,814 (GRCm39) |
|
probably null |
Het |
| Hsd11b1 |
T |
C |
1: 192,922,686 (GRCm39) |
T124A |
probably benign |
Het |
| Ipp |
A |
G |
4: 116,372,565 (GRCm39) |
Y198C |
probably benign |
Het |
| Ism1 |
T |
A |
2: 139,582,047 (GRCm39) |
|
probably null |
Het |
| Klhl42 |
A |
G |
6: 146,993,394 (GRCm39) |
Y122C |
possibly damaging |
Het |
| Klk1b21 |
A |
T |
7: 43,755,418 (GRCm39) |
K206* |
probably null |
Het |
| Lcn11 |
A |
G |
2: 25,668,097 (GRCm39) |
K85R |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,366,523 (GRCm39) |
A2746E |
probably damaging |
Het |
| Matn4 |
A |
G |
2: 164,242,573 (GRCm39) |
V175A |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,082,545 (GRCm39) |
N1372Y |
probably damaging |
Het |
| Ncl |
A |
G |
1: 86,284,677 (GRCm39) |
|
probably null |
Het |
| Nudt2 |
A |
G |
4: 41,480,255 (GRCm39) |
D46G |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,958,000 (GRCm39) |
D3567N |
probably benign |
Het |
| Or1j17 |
G |
C |
2: 36,578,487 (GRCm39) |
V158L |
probably benign |
Het |
| Or2z9 |
G |
T |
8: 72,853,930 (GRCm39) |
V109F |
possibly damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,305 (GRCm39) |
M255K |
possibly damaging |
Het |
| Pamr1 |
T |
A |
2: 102,464,880 (GRCm39) |
M343K |
probably benign |
Het |
| Pcdh15 |
T |
G |
10: 74,467,025 (GRCm39) |
S1684A |
possibly damaging |
Het |
| Ppm1h |
T |
A |
10: 122,714,433 (GRCm39) |
L324* |
probably null |
Het |
| Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm39) |
I76V |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,494,873 (GRCm39) |
V748I |
probably benign |
Het |
| Prss47 |
A |
G |
13: 65,199,591 (GRCm39) |
V96A |
probably benign |
Het |
| Rsbn1 |
C |
T |
3: 103,821,789 (GRCm39) |
T8I |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCGGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Serpinb3d |
A |
G |
1: 107,006,182 (GRCm39) |
V302A |
probably benign |
Het |
| Sfrp4 |
A |
T |
13: 19,816,496 (GRCm39) |
I177F |
probably benign |
Het |
| Sh3bp2 |
A |
G |
5: 34,701,569 (GRCm39) |
|
probably benign |
Het |
| Slc7a12 |
A |
G |
3: 14,562,393 (GRCm39) |
T257A |
probably damaging |
Het |
| Spata31e5 |
A |
T |
1: 28,817,234 (GRCm39) |
V266D |
probably damaging |
Het |
| Specc1l |
T |
C |
10: 75,103,425 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,534,716 (GRCm39) |
T3658A |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,928,392 (GRCm39) |
W407R |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,101,725 (GRCm39) |
T68A |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,790,298 (GRCm39) |
N3586S |
possibly damaging |
Het |
| Usp14 |
T |
C |
18: 10,024,632 (GRCm39) |
T22A |
probably damaging |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,918 (GRCm39) |
L60P |
probably damaging |
Het |
| Vmn2r108 |
G |
A |
17: 20,691,252 (GRCm39) |
H424Y |
probably benign |
Het |
| Wdr81 |
C |
A |
11: 75,336,788 (GRCm39) |
E1534* |
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,567,635 (GRCm39) |
E976G |
probably damaging |
Het |
| Zfp128 |
T |
C |
7: 12,623,956 (GRCm39) |
L108P |
possibly damaging |
Het |
| Zfp644 |
T |
C |
5: 106,783,548 (GRCm39) |
I1000V |
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 |
|
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 |
|
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'- CTGCAGTGGGTGAAAATGTG -3'
(R):5'- TGTAGGGCTCTTCACAGACAC -3'
Sequencing Primer
(F):5'- TGTAGTTAACTCTCAGCAGCAC -3'
(R):5'- TAGGGCTCTTCACAGACACATTCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation