Incidental Mutation 'IGL01339:Cntn2'
| ID |
74790 |
| 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 # |
IGL01339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
132437163-132470989 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 132446643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086521]
|
| AlphaFold |
Q61330 |
| Predicted Effect |
probably null
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 |
probably benign
Transcript: ENSMUST00000189528
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bahcc1 |
A |
G |
11: 120,180,338 (GRCm39) |
T2565A |
probably damaging |
Het |
| C8a |
A |
C |
4: 104,685,182 (GRCm39) |
F354V |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,486,543 (GRCm38) |
V876M |
possibly damaging |
Het |
| Chmp7 |
A |
T |
14: 69,956,855 (GRCm39) |
I351N |
probably damaging |
Het |
| Clec7a |
A |
T |
6: 129,442,449 (GRCm39) |
W193R |
probably damaging |
Het |
| Clint1 |
T |
C |
11: 45,799,846 (GRCm39) |
V535A |
probably benign |
Het |
| Clu |
A |
G |
14: 66,213,037 (GRCm39) |
E141G |
probably damaging |
Het |
| Cmah |
A |
T |
13: 24,614,532 (GRCm39) |
D159V |
probably damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Cyp2d10 |
C |
T |
15: 82,288,042 (GRCm39) |
A195T |
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,854,276 (GRCm39) |
K1901N |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,748,591 (GRCm39) |
Y841C |
probably benign |
Het |
| Dop1a |
G |
A |
9: 86,433,730 (GRCm39) |
D2329N |
possibly damaging |
Het |
| Eipr1 |
A |
G |
12: 28,914,770 (GRCm39) |
E308G |
probably damaging |
Het |
| Exoc4 |
T |
C |
6: 33,282,335 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,530,713 (GRCm39) |
I449V |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,246,442 (GRCm39) |
T487A |
possibly damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,816 (GRCm39) |
E98G |
probably damaging |
Het |
| Folh1 |
G |
A |
7: 86,375,306 (GRCm39) |
T527I |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,227,867 (GRCm39) |
D217N |
probably damaging |
Het |
| Gm6994 |
A |
G |
14: 77,718,618 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
A |
T |
3: 62,511,718 (GRCm39) |
W94R |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,373,842 (GRCm39) |
D259G |
possibly damaging |
Het |
| Hcn2 |
T |
C |
10: 79,564,902 (GRCm39) |
L438P |
probably damaging |
Het |
| Hgd |
A |
C |
16: 37,452,092 (GRCm39) |
T374P |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,322,463 (GRCm39) |
|
probably null |
Het |
| Kctd5 |
A |
T |
17: 24,276,749 (GRCm39) |
V172E |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,287,586 (GRCm39) |
I91V |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,388,763 (GRCm39) |
S2221P |
unknown |
Het |
| Ltk |
T |
A |
2: 119,583,455 (GRCm39) |
D310V |
probably damaging |
Het |
| Luzp1 |
T |
A |
4: 136,270,087 (GRCm39) |
M770K |
probably damaging |
Het |
| Mxd4 |
G |
A |
5: 34,341,690 (GRCm39) |
|
probably benign |
Het |
| Mzb1 |
T |
A |
18: 35,781,399 (GRCm39) |
H71L |
probably benign |
Het |
| Necap2 |
G |
A |
4: 140,802,276 (GRCm39) |
T63I |
probably benign |
Het |
| Nefl |
A |
G |
14: 68,323,931 (GRCm39) |
|
probably benign |
Het |
| Odam |
G |
A |
5: 88,033,755 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
A |
G |
3: 49,710,247 (GRCm39) |
I356T |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,670,263 (GRCm39) |
|
probably null |
Het |
| Pde2a |
T |
C |
7: 101,156,366 (GRCm39) |
S593P |
probably benign |
Het |
| Rapgef3 |
A |
T |
15: 97,655,940 (GRCm39) |
L359M |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,501,811 (GRCm39) |
|
probably null |
Het |
| Rbm44 |
A |
G |
1: 91,096,686 (GRCm39) |
I976V |
probably benign |
Het |
| Rdh13 |
A |
T |
7: 4,430,623 (GRCm39) |
S278R |
probably damaging |
Het |
| Rgma |
A |
G |
7: 73,067,231 (GRCm39) |
E256G |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,303 (GRCm39) |
D402E |
probably benign |
Het |
| Rnps1 |
T |
A |
17: 24,641,273 (GRCm39) |
D224E |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,451,832 (GRCm39) |
V1364M |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,156,304 (GRCm39) |
R535H |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,930,082 (GRCm39) |
D1431V |
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,245,891 (GRCm39) |
L677* |
probably null |
Het |
| Slc17a8 |
T |
A |
10: 89,427,106 (GRCm39) |
I148F |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,885,975 (GRCm39) |
C98* |
probably null |
Het |
| Sptbn2 |
T |
G |
19: 4,796,000 (GRCm39) |
Y1726* |
probably null |
Het |
| Tcof1 |
T |
C |
18: 60,951,167 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
G |
A |
14: 87,718,230 (GRCm39) |
V210I |
possibly damaging |
Het |
| Tdrd9 |
G |
A |
12: 112,006,868 (GRCm39) |
V911M |
probably damaging |
Het |
| Tmod4 |
G |
A |
3: 95,035,608 (GRCm39) |
R252H |
probably benign |
Het |
| Tti1 |
G |
T |
2: 157,851,050 (GRCm39) |
P63Q |
possibly damaging |
Het |
| Tuft1 |
A |
T |
3: 94,535,594 (GRCm39) |
D109E |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,957,505 (GRCm39) |
S659P |
probably damaging |
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 |
|
|
IGL01137:Cntn2
|
APN |
1 |
132,449,035 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-10-07 |
Incidental Mutation