Incidental Mutation 'R9311:Tnr'
| ID |
705527 |
| 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 # |
R9311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
159351339-159759299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 159677663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Alanine
at position 16
(G16A)
|
| 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: G16A
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: G16A
| 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: G16A
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: G16A
| 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
AA Change: G16A
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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 |
|---|
| A4gnt |
T |
C |
9: 99,495,816 (GRCm39) |
I84T |
possibly damaging |
Het |
| Adad2 |
G |
T |
8: 120,341,986 (GRCm39) |
R268L |
probably damaging |
Het |
| Agxt2 |
A |
T |
15: 10,380,733 (GRCm39) |
N208I |
probably damaging |
Het |
| Brsk1 |
G |
T |
7: 4,709,722 (GRCm39) |
|
probably null |
Het |
| Cd40 |
A |
T |
2: 164,912,667 (GRCm39) |
Q235L |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,859,490 (GRCm39) |
D1137V |
unknown |
Het |
| Cln6 |
T |
C |
9: 62,757,900 (GRCm39) |
Y220H |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 96,010,794 (GRCm39) |
|
probably null |
Het |
| Cpne1 |
A |
T |
2: 155,919,723 (GRCm39) |
V277E |
probably damaging |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,735 (GRCm39) |
|
probably null |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,139 (GRCm39) |
T41A |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,369,463 (GRCm39) |
|
probably null |
Het |
| Eif4e1b |
C |
A |
13: 54,932,332 (GRCm39) |
H56N |
probably benign |
Het |
| Elp3 |
A |
T |
14: 65,823,788 (GRCm39) |
D78E |
probably benign |
Het |
| Ephx3 |
C |
G |
17: 32,408,290 (GRCm39) |
D45H |
probably benign |
Het |
| Gabarap |
T |
A |
11: 69,882,549 (GRCm39) |
V4E |
probably benign |
Het |
| Gm5105 |
T |
A |
3: 137,755,418 (GRCm39) |
D56V |
unknown |
Het |
| Gosr2 |
G |
T |
11: 103,574,693 (GRCm39) |
H134Q |
probably damaging |
Het |
| Ifi204 |
A |
G |
1: 173,589,215 (GRCm39) |
V72A |
possibly damaging |
Het |
| Irx1 |
A |
G |
13: 72,107,416 (GRCm39) |
V422A |
probably benign |
Het |
| Kcne4 |
C |
A |
1: 78,795,824 (GRCm39) |
D157E |
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,541,345 (GRCm39) |
N195S |
probably damaging |
Het |
| Kirrel1 |
A |
G |
3: 87,005,123 (GRCm39) |
V75A |
probably benign |
Het |
| Klkb1 |
T |
C |
8: 45,722,983 (GRCm39) |
T625A |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,838,275 (GRCm39) |
|
probably null |
Het |
| Lifr |
A |
G |
15: 7,208,418 (GRCm39) |
I599V |
possibly damaging |
Het |
| Lin52 |
A |
T |
12: 84,576,470 (GRCm39) |
E101V |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,802,680 (GRCm39) |
I130V |
probably benign |
Het |
| Liph |
C |
T |
16: 21,774,913 (GRCm39) |
R428Q |
probably damaging |
Het |
| Lrrc4c |
A |
C |
2: 97,461,080 (GRCm39) |
I569L |
possibly damaging |
Het |
| Mnat1 |
G |
A |
12: 73,214,916 (GRCm39) |
V78I |
probably benign |
Het |
| Msln |
C |
T |
17: 25,971,990 (GRCm39) |
D76N |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,463,253 (GRCm39) |
H495R |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nfu1 |
T |
C |
6: 86,986,926 (GRCm39) |
V15A |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,608,714 (GRCm39) |
S441P |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,214,090 (GRCm39) |
|
probably null |
Het |
| Or1j20 |
A |
T |
2: 36,760,405 (GRCm39) |
I276F |
probably damaging |
Het |
| Or5h27 |
A |
T |
16: 59,006,106 (GRCm39) |
C247S |
unknown |
Het |
| Or5w22 |
A |
G |
2: 87,362,358 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,583,925 (GRCm39) |
S272P |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,978,189 (GRCm39) |
V1109A |
unknown |
Het |
| Pik3c3 |
G |
A |
18: 30,445,666 (GRCm39) |
R551H |
probably benign |
Het |
| Plcb1 |
G |
A |
2: 135,189,385 (GRCm39) |
V838I |
probably benign |
Het |
| Plppr4 |
G |
T |
3: 117,119,518 (GRCm39) |
T297K |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,051,320 (GRCm39) |
I67T |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,310,539 (GRCm39) |
N312K |
probably damaging |
Het |
| Sh3glb1 |
A |
C |
3: 144,397,659 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
C |
T |
2: 130,916,013 (GRCm39) |
C1283Y |
probably damaging |
Het |
| Spns1 |
T |
C |
7: 125,972,995 (GRCm39) |
I204V |
probably damaging |
Het |
| Sprr5 |
T |
G |
3: 92,440,397 (GRCm39) |
Q14P |
unknown |
Het |
| Supt6 |
T |
C |
11: 78,116,284 (GRCm39) |
Y693C |
probably damaging |
Het |
| Taar9 |
A |
G |
10: 23,985,152 (GRCm39) |
V94A |
probably damaging |
Het |
| Tchp |
T |
C |
5: 114,846,877 (GRCm39) |
S55P |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,863,029 (GRCm39) |
H678R |
possibly damaging |
Het |
| Top3b |
T |
C |
16: 16,700,563 (GRCm39) |
|
probably null |
Het |
| Tpmt |
A |
G |
13: 47,185,892 (GRCm39) |
|
probably null |
Het |
| Treh |
G |
A |
9: 44,592,655 (GRCm39) |
V87I |
probably benign |
Het |
| Ttc4 |
T |
C |
4: 106,535,963 (GRCm39) |
D33G |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,703,257 (GRCm39) |
D1171G |
probably benign |
Het |
| Vmn2r61 |
G |
T |
7: 41,950,092 (GRCm39) |
L837F |
possibly damaging |
Het |
| Vmn2r86 |
T |
A |
10: 130,288,440 (GRCm39) |
N354Y |
probably damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,503 (GRCm39) |
A72G |
probably benign |
Het |
| Zscan4b |
C |
A |
7: 10,635,950 (GRCm39) |
V126F |
probably 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 |
|
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 |
|
|
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'- CTAGCTTTACAGAGTGAGAGCCAC -3'
(R):5'- TCATGTCCTGCTCAGCTGAG -3'
Sequencing Primer
(F):5'- CCACGTTGGCCTGGCAC -3'
(R):5'- CAGAGGCTTTCAAGTGGCAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation