Incidental Mutation 'IGL01137:Cntn2'
| ID |
50336 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cntn2
|
| Ensembl Gene |
ENSMUSG00000053024 |
| Gene Name |
contactin 2 |
| Synonyms |
Tax, axonin, TAG1, TAG-1, D130012K04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
IGL01137
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
132437163-132470989 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 132449035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086521]
|
| AlphaFold |
Q61330 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086521
|
| SMART Domains |
Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IGc2
|
54 |
120 |
8.78e-9 |
SMART |
|
IG
|
142 |
232 |
3.89e-1 |
SMART |
|
IGc2
|
254 |
315 |
2.14e-21 |
SMART |
|
IGc2
|
341 |
404 |
4.59e-12 |
SMART |
|
IGc2
|
433 |
497 |
7.52e-8 |
SMART |
|
IGc2
|
523 |
596 |
2.72e-5 |
SMART |
|
FN3
|
610 |
696 |
2.72e-12 |
SMART |
|
FN3
|
713 |
799 |
1.02e-2 |
SMART |
|
FN3
|
815 |
899 |
5.27e-10 |
SMART |
|
FN3
|
915 |
995 |
8.91e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186487
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188065
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190601
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. Mice lacking a functional copy of this gene exhibit epileptic seizures and elevated expression of A1 adenosine receptors. [provided by RefSeq, Sep 2016]
PHENOTYPE: Targeted mutation of this locus results in molecular abnormalities in the central nervous system. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted(5)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
A |
15: 94,292,492 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,611,075 (GRCm39) |
T2583A |
probably damaging |
Het |
| Anxa7 |
G |
A |
14: 20,506,648 (GRCm39) |
Q431* |
probably null |
Het |
| Asb15 |
T |
A |
6: 24,556,521 (GRCm39) |
D5E |
probably benign |
Het |
| Bex1 |
C |
A |
X: 135,115,243 (GRCm39) |
D29Y |
probably damaging |
Het |
| Cadm2 |
G |
A |
16: 66,612,238 (GRCm39) |
T108I |
probably damaging |
Het |
| Cecr2 |
T |
G |
6: 120,738,989 (GRCm39) |
L1211V |
probably damaging |
Het |
| Ctrc |
C |
A |
4: 141,566,065 (GRCm39) |
V198L |
possibly damaging |
Het |
| Cyp2g1 |
A |
G |
7: 26,513,684 (GRCm39) |
S208G |
possibly damaging |
Het |
| Ddx46 |
T |
A |
13: 55,817,530 (GRCm39) |
Y718* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,966,379 (GRCm39) |
I1116T |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,037,689 (GRCm39) |
Y2177H |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,919,486 (GRCm39) |
F661S |
probably damaging |
Het |
| Dpy19l2 |
G |
A |
9: 24,569,858 (GRCm39) |
T365I |
possibly damaging |
Het |
| Flot2 |
T |
C |
11: 77,940,333 (GRCm39) |
Y27H |
probably damaging |
Het |
| Gsta4 |
T |
C |
9: 78,113,204 (GRCm39) |
Y95H |
possibly damaging |
Het |
| Kir3dl1 |
A |
G |
X: 135,427,360 (GRCm39) |
T192A |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,600,825 (GRCm39) |
N640K |
probably benign |
Het |
| Lrch1 |
C |
T |
14: 74,994,532 (GRCm39) |
V691M |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,653,742 (GRCm39) |
D1302G |
probably benign |
Het |
| Myo18a |
T |
G |
11: 77,718,655 (GRCm39) |
F935V |
probably damaging |
Het |
| Mypn |
T |
C |
10: 62,988,633 (GRCm39) |
E464G |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,829,695 (GRCm39) |
V290A |
probably benign |
Het |
| Or5ac25 |
A |
C |
16: 59,182,335 (GRCm39) |
M82R |
probably benign |
Het |
| Or5b101 |
A |
T |
19: 13,005,394 (GRCm39) |
F100I |
possibly damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,055 (GRCm39) |
I249N |
possibly damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,109,612 (GRCm39) |
R39C |
probably damaging |
Het |
| Rps3a3 |
A |
T |
13: 108,807,666 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
C |
T |
3: 129,801,093 (GRCm39) |
S401N |
probably benign |
Het |
| Slc22a22 |
C |
A |
15: 57,117,674 (GRCm39) |
G289V |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,928,775 (GRCm39) |
I246V |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Timmdc1 |
A |
T |
16: 38,338,747 (GRCm39) |
H114Q |
probably benign |
Het |
| Tlcd2 |
T |
C |
11: 75,360,337 (GRCm39) |
Y127H |
probably damaging |
Het |
| Tnfrsf11a |
G |
A |
1: 105,737,147 (GRCm39) |
D85N |
possibly damaging |
Het |
| Trbc2 |
T |
C |
6: 41,524,751 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
G |
A |
4: 43,091,291 (GRCm39) |
R39H |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,341,087 (GRCm39) |
L1521P |
probably damaging |
Het |
| Zbtb17 |
T |
A |
4: 141,193,678 (GRCm39) |
C607* |
probably null |
Het |
|
| Other mutations in Cntn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01106:Cntn2
|
APN |
1 |
132,449,622 (GRCm39) |
splice site |
probably benign |
|
|
IGL01339:Cntn2
|
APN |
1 |
132,446,643 (GRCm39) |
splice site |
probably null |
|
|
IGL01369:Cntn2
|
APN |
1 |
132,443,843 (GRCm39) |
missense |
probably benign |
|
|
IGL01572:Cntn2
|
APN |
1 |
132,455,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02389:Cntn2
|
APN |
1 |
132,453,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02473:Cntn2
|
APN |
1 |
132,446,069 (GRCm39) |
missense |
probably benign |
|
|
IGL02550:Cntn2
|
APN |
1 |
132,456,801 (GRCm39) |
missense |
probably null |
0.03 |
|
IGL02608:Cntn2
|
APN |
1 |
132,453,654 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02755:Cntn2
|
APN |
1 |
132,457,040 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02850:Cntn2
|
APN |
1 |
132,446,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02887:Cntn2
|
APN |
1 |
132,444,308 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03060:Cntn2
|
APN |
1 |
132,456,678 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03224:Cntn2
|
APN |
1 |
132,450,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Cntn2
|
UTSW |
1 |
132,443,918 (GRCm39) |
nonsense |
probably null |
|
|
R0009:Cntn2
|
UTSW |
1 |
132,443,918 (GRCm39) |
nonsense |
probably null |
|
|
R0270:Cntn2
|
UTSW |
1 |
132,449,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0739:Cntn2
|
UTSW |
1 |
132,456,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0849:Cntn2
|
UTSW |
1 |
132,450,124 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0903:Cntn2
|
UTSW |
1 |
132,461,422 (GRCm39) |
small deletion |
probably benign |
|
|
R1463:Cntn2
|
UTSW |
1 |
132,448,875 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1512:Cntn2
|
UTSW |
1 |
132,451,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1535:Cntn2
|
UTSW |
1 |
132,453,122 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1686:Cntn2
|
UTSW |
1 |
132,454,049 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1696:Cntn2
|
UTSW |
1 |
132,449,017 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1708:Cntn2
|
UTSW |
1 |
132,446,936 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2251:Cntn2
|
UTSW |
1 |
132,453,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2315:Cntn2
|
UTSW |
1 |
132,450,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2395:Cntn2
|
UTSW |
1 |
132,454,110 (GRCm39) |
missense |
probably benign |
|
|
R3617:Cntn2
|
UTSW |
1 |
132,456,361 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3883:Cntn2
|
UTSW |
1 |
132,456,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3884:Cntn2
|
UTSW |
1 |
132,456,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4060:Cntn2
|
UTSW |
1 |
132,453,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4289:Cntn2
|
UTSW |
1 |
132,455,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4710:Cntn2
|
UTSW |
1 |
132,455,963 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4921:Cntn2
|
UTSW |
1 |
132,443,770 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5121:Cntn2
|
UTSW |
1 |
132,444,798 (GRCm39) |
nonsense |
probably null |
|
|
R5288:Cntn2
|
UTSW |
1 |
132,451,415 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5360:Cntn2
|
UTSW |
1 |
132,446,595 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5787:Cntn2
|
UTSW |
1 |
132,450,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5817:Cntn2
|
UTSW |
1 |
132,446,486 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5930:Cntn2
|
UTSW |
1 |
132,451,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Cntn2
|
UTSW |
1 |
132,446,090 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7189:Cntn2
|
UTSW |
1 |
132,444,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:Cntn2
|
UTSW |
1 |
132,450,137 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7562:Cntn2
|
UTSW |
1 |
132,454,055 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7689:Cntn2
|
UTSW |
1 |
132,443,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7764:Cntn2
|
UTSW |
1 |
132,450,101 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8080:Cntn2
|
UTSW |
1 |
132,449,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Cntn2
|
UTSW |
1 |
132,449,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:Cntn2
|
UTSW |
1 |
132,450,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Cntn2
|
UTSW |
1 |
132,453,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Cntn2
|
UTSW |
1 |
132,443,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Cntn2
|
UTSW |
1 |
132,449,021 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9329:Cntn2
|
UTSW |
1 |
132,456,678 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9385:Cntn2
|
UTSW |
1 |
132,455,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Cntn2
|
UTSW |
1 |
132,461,422 (GRCm39) |
small deletion |
probably benign |
|
|
Z1176:Cntn2
|
UTSW |
1 |
132,455,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation