Incidental Mutation 'R1697:Tnr'
| ID |
192300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnr
|
| Ensembl Gene |
ENSMUSG00000015829 |
| Gene Name |
tenascin R |
| Synonyms |
J1-tenascin, restrictin, janusin, TN-R |
| MMRRC Submission |
039730-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1697 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
159351339-159759299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 159679600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 191
(N191K)
|
| 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: N191K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: N191K
| 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: N191K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: N191K
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
99% (67/68) |
| 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 |
|---|
| 4930486L24Rik |
A |
T |
13: 60,992,928 (GRCm39) |
D250E |
probably damaging |
Het |
| 4930571K23Rik |
A |
G |
7: 124,968,201 (GRCm39) |
|
noncoding transcript |
Het |
| Acsl3 |
T |
C |
1: 78,683,114 (GRCm39) |
|
probably benign |
Het |
| Acsl6 |
C |
A |
11: 54,220,792 (GRCm39) |
T244K |
probably damaging |
Het |
| Adam26b |
T |
A |
8: 43,974,000 (GRCm39) |
N334I |
probably damaging |
Het |
| Adgrl4 |
C |
T |
3: 151,223,248 (GRCm39) |
T608M |
probably damaging |
Het |
| Aldh2 |
A |
G |
5: 121,716,404 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,599,436 (GRCm39) |
T1890A |
possibly damaging |
Het |
| Capn7 |
C |
T |
14: 31,082,117 (GRCm39) |
T441M |
probably damaging |
Het |
| Cd9 |
A |
T |
6: 125,441,367 (GRCm39) |
C85S |
probably damaging |
Het |
| Chrm3 |
T |
C |
13: 9,928,794 (GRCm39) |
T81A |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,757,376 (GRCm39) |
|
probably benign |
Het |
| Dcc |
T |
A |
18: 71,503,808 (GRCm39) |
D950V |
probably damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,498,530 (GRCm39) |
V422A |
probably damaging |
Het |
| Enthd1 |
A |
G |
15: 80,337,124 (GRCm39) |
S437P |
probably damaging |
Het |
| Fads1 |
A |
G |
19: 10,171,464 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,856,176 (GRCm39) |
I3869L |
probably benign |
Het |
| Fbxw5 |
T |
A |
2: 25,392,473 (GRCm39) |
V85E |
possibly damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,772 (GRCm39) |
C1579S |
probably damaging |
Het |
| Fem1b |
T |
C |
9: 62,704,456 (GRCm39) |
D268G |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,327,225 (GRCm39) |
L1772P |
probably damaging |
Het |
| Gtf3a |
C |
A |
5: 146,888,723 (GRCm39) |
Q145K |
possibly damaging |
Het |
| Hacl1 |
T |
C |
14: 31,342,957 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
A |
7: 55,803,653 (GRCm39) |
F2229L |
probably benign |
Het |
| Hs3st4 |
A |
T |
7: 123,996,080 (GRCm39) |
I249L |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,786,752 (GRCm39) |
Y7* |
probably null |
Het |
| Irag2 |
A |
G |
6: 145,083,341 (GRCm39) |
|
probably benign |
Het |
| Klk1b1 |
T |
A |
7: 43,619,750 (GRCm39) |
M103K |
probably benign |
Het |
| Krt5 |
A |
G |
15: 101,619,020 (GRCm39) |
V287A |
probably benign |
Het |
| Lgals12 |
T |
A |
19: 7,581,530 (GRCm39) |
Q59L |
possibly damaging |
Het |
| Loxl4 |
A |
G |
19: 42,593,379 (GRCm39) |
V264A |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,712,695 (GRCm39) |
D3099G |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,984,369 (GRCm39) |
T169I |
possibly damaging |
Het |
| Muc21 |
A |
C |
17: 35,931,540 (GRCm39) |
|
probably benign |
Het |
| Myef2l |
G |
A |
3: 10,154,613 (GRCm39) |
V461I |
possibly damaging |
Het |
| Myh7b |
A |
C |
2: 155,462,054 (GRCm39) |
S317R |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,361,872 (GRCm39) |
|
probably null |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or1j17 |
C |
T |
2: 36,578,259 (GRCm39) |
L82F |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,502 (GRCm39) |
S293R |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,270 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or5i1 |
T |
A |
2: 87,612,929 (GRCm39) |
I15N |
possibly damaging |
Het |
| Or6c2b |
T |
C |
10: 128,947,737 (GRCm39) |
T186A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,577,087 (GRCm39) |
Y982H |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,609,541 (GRCm39) |
L312P |
probably damaging |
Het |
| Plekhm1 |
G |
A |
11: 103,267,710 (GRCm39) |
P754S |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,512,057 (GRCm39) |
L145* |
probably null |
Het |
| Ppp2r5c |
T |
A |
12: 110,527,906 (GRCm39) |
|
probably benign |
Het |
| Pramel29 |
A |
C |
4: 143,935,162 (GRCm39) |
I193S |
probably damaging |
Het |
| Proser3 |
T |
C |
7: 30,239,446 (GRCm39) |
M553V |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,715,514 (GRCm39) |
D664E |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,887,391 (GRCm39) |
A99T |
probably benign |
Het |
| Stim1 |
T |
G |
7: 102,003,713 (GRCm39) |
C49G |
probably damaging |
Het |
| Stk32c |
T |
C |
7: 138,701,740 (GRCm39) |
I238V |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tfb2m |
T |
A |
1: 179,372,464 (GRCm39) |
E133V |
probably null |
Het |
| Tmem209 |
A |
T |
6: 30,497,867 (GRCm39) |
C143S |
probably benign |
Het |
| Vars1 |
C |
T |
17: 35,217,198 (GRCm39) |
A419T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,041 (GRCm39) |
S819G |
probably benign |
Het |
| Wls |
T |
C |
3: 159,602,995 (GRCm39) |
V136A |
probably benign |
Het |
| Ybx2 |
C |
T |
11: 69,830,887 (GRCm39) |
S217L |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 29,756,779 (GRCm39) |
D37G |
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 |
|
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 |
|
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'- TCTCAGCAGCACCAGTGTGTTC -3'
(R):5'- TGGTAGCCTTCCTCACAGATGCAG -3'
Sequencing Primer
(F):5'- TTCAAGGAATGAGTGCAGGTCTC -3'
(R):5'- ATTCAGACACCGTCGCTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation