Incidental Mutation 'IGL02389:Cntn2'
ID |
291693 |
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 # |
IGL02389
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
132437163-132470989 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132453059 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 411
(E411G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086521]
[ENSMUST00000188943]
|
AlphaFold |
Q61330 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086521
AA Change: E411G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000083707 Gene: ENSMUSG00000053024 AA Change: E411G
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 |
probably benign
Transcript: ENSMUST00000188943
|
SMART Domains |
Protein: ENSMUSP00000139795 Gene: ENSMUSG00000053024
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
PDB:2OM5|A
|
36 |
103 |
9e-37 |
PDB |
SCOP:d1cs6a1
|
36 |
103 |
2e-11 |
SMART |
Blast:IGc2
|
54 |
103 |
1e-30 |
BLAST |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
A |
5: 64,053,826 (GRCm39) |
S11N |
probably null |
Het |
Aqp9 |
T |
C |
9: 71,030,188 (GRCm39) |
I200V |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cstdc5 |
C |
A |
16: 36,187,848 (GRCm39) |
V6F |
possibly damaging |
Het |
Dennd3 |
A |
G |
15: 73,438,905 (GRCm39) |
D1091G |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,589,567 (GRCm39) |
|
probably benign |
Het |
Dscam |
T |
A |
16: 96,442,097 (GRCm39) |
I1577F |
probably benign |
Het |
Egflam |
A |
T |
15: 7,279,559 (GRCm39) |
N482K |
probably benign |
Het |
Fam216a |
T |
C |
5: 122,505,574 (GRCm39) |
T129A |
probably damaging |
Het |
Fbxo40 |
T |
C |
16: 36,790,136 (GRCm39) |
M325V |
probably benign |
Het |
Fbxw8 |
C |
T |
5: 118,267,020 (GRCm39) |
V148M |
possibly damaging |
Het |
Fcgbp |
C |
T |
7: 27,774,596 (GRCm39) |
R57C |
probably damaging |
Het |
Gnpnat1 |
A |
G |
14: 45,618,388 (GRCm39) |
|
probably null |
Het |
Gria2 |
T |
C |
3: 80,616,729 (GRCm39) |
T408A |
probably benign |
Het |
H2-T3 |
A |
G |
17: 36,497,500 (GRCm39) |
M59T |
probably benign |
Het |
Jakmip1 |
C |
T |
5: 37,258,187 (GRCm39) |
Q278* |
probably null |
Het |
Krtap21-1 |
C |
T |
16: 89,200,312 (GRCm39) |
G110D |
unknown |
Het |
Myo7a |
C |
T |
7: 97,756,198 (GRCm39) |
|
probably null |
Het |
Nlrp9c |
T |
A |
7: 26,093,632 (GRCm39) |
Q11L |
probably benign |
Het |
Or14a257 |
A |
G |
7: 86,138,336 (GRCm39) |
L141P |
probably damaging |
Het |
Or5b94 |
A |
T |
19: 12,651,899 (GRCm39) |
D110V |
probably benign |
Het |
Or6c75 |
T |
A |
10: 129,336,939 (GRCm39) |
M62K |
probably benign |
Het |
Or6c8 |
A |
C |
10: 128,915,099 (GRCm39) |
I244M |
probably damaging |
Het |
Pdzd8 |
A |
G |
19: 59,289,825 (GRCm39) |
I525T |
probably benign |
Het |
Pign |
A |
T |
1: 105,574,506 (GRCm39) |
L280* |
probably null |
Het |
Pik3r4 |
T |
G |
9: 105,527,530 (GRCm39) |
I294M |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
Prmt3 |
C |
T |
7: 49,498,506 (GRCm39) |
Q471* |
probably null |
Het |
Prrc2c |
A |
G |
1: 162,520,439 (GRCm39) |
F2006L |
probably damaging |
Het |
Ptger3 |
C |
T |
3: 157,272,808 (GRCm39) |
R52C |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,115,325 (GRCm39) |
|
probably benign |
Het |
Sh3bp4 |
T |
C |
1: 89,072,870 (GRCm39) |
F573L |
probably damaging |
Het |
Slc18a2 |
G |
T |
19: 59,251,733 (GRCm39) |
|
probably benign |
Het |
Slc26a8 |
T |
A |
17: 28,857,624 (GRCm39) |
I840F |
probably benign |
Het |
Slc5a4b |
A |
T |
10: 75,908,299 (GRCm39) |
Y364* |
probably null |
Het |
Slitrk1 |
A |
G |
14: 109,149,754 (GRCm39) |
I319T |
probably benign |
Het |
Stxbp5l |
C |
T |
16: 37,028,567 (GRCm39) |
A499T |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,861,503 (GRCm39) |
S951R |
probably benign |
Het |
Trim30c |
A |
G |
7: 104,031,381 (GRCm39) |
F478S |
probably benign |
Het |
Tyro3 |
C |
T |
2: 119,635,345 (GRCm39) |
|
probably benign |
Het |
Vmn1r34 |
A |
T |
6: 66,614,042 (GRCm39) |
L232Q |
probably damaging |
Het |
Zfp148 |
T |
A |
16: 33,315,816 (GRCm39) |
C215S |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,782,043 (GRCm39) |
P1995S |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,790,364 (GRCm39) |
V2106D |
possibly 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 |
|
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 |
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 |
2015-04-16 |