Incidental Mutation 'IGL02608:Cntn2'
ID |
300375 |
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: 0.291)
|
Stock # |
IGL02608
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
132437163-132470989 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 132453654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 340
(A340T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086521]
[ENSMUST00000188943]
|
AlphaFold |
Q61330 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086521
AA Change: A340T
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000083707 Gene: ENSMUSG00000053024 AA Change: A340T
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
T |
A |
15: 102,247,627 (GRCm39) |
M415L |
probably benign |
Het |
Akap6 |
T |
C |
12: 53,057,389 (GRCm39) |
S952P |
probably benign |
Het |
Aldh3a1 |
A |
G |
11: 61,107,147 (GRCm39) |
R284G |
probably damaging |
Het |
Aldh3b1 |
G |
T |
19: 3,964,061 (GRCm39) |
H414N |
probably damaging |
Het |
Chd5 |
G |
A |
4: 152,440,564 (GRCm39) |
M141I |
possibly damaging |
Het |
Daw1 |
T |
A |
1: 83,187,055 (GRCm39) |
C288* |
probably null |
Het |
Dcn |
A |
G |
10: 97,319,319 (GRCm39) |
E32G |
probably damaging |
Het |
Dock5 |
C |
T |
14: 68,065,888 (GRCm39) |
V372M |
probably benign |
Het |
Etf1 |
T |
C |
18: 35,064,670 (GRCm39) |
E13G |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,392,469 (GRCm39) |
E781G |
probably benign |
Het |
Gucy1a2 |
A |
G |
9: 3,635,113 (GRCm39) |
I386V |
probably damaging |
Het |
Gvin-ps5 |
T |
A |
7: 105,928,876 (GRCm39) |
|
noncoding transcript |
Het |
Hoxb5 |
T |
A |
11: 96,195,969 (GRCm39) |
|
probably benign |
Het |
Iqch |
T |
A |
9: 63,329,110 (GRCm39) |
|
probably benign |
Het |
Itgal |
C |
T |
7: 126,909,416 (GRCm39) |
P423S |
probably damaging |
Het |
Kti12 |
T |
G |
4: 108,705,359 (GRCm39) |
L91R |
probably damaging |
Het |
Lgals3 |
T |
C |
14: 47,623,058 (GRCm39) |
M239T |
probably benign |
Het |
Lrrc8a |
T |
C |
2: 30,146,311 (GRCm39) |
M375T |
possibly damaging |
Het |
Ly75 |
T |
C |
2: 60,152,244 (GRCm39) |
E1103G |
probably benign |
Het |
Lyst |
A |
T |
13: 13,887,339 (GRCm39) |
E3056V |
probably damaging |
Het |
Map3k7 |
T |
C |
4: 31,981,452 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
G |
A |
11: 62,264,040 (GRCm39) |
T180I |
probably benign |
Het |
Nectin4 |
T |
C |
1: 171,212,341 (GRCm39) |
V313A |
probably benign |
Het |
Nol4l |
A |
G |
2: 153,278,213 (GRCm39) |
S8P |
possibly damaging |
Het |
Npas2 |
T |
A |
1: 39,384,527 (GRCm39) |
S607T |
probably benign |
Het |
Nup155 |
T |
A |
15: 8,138,955 (GRCm39) |
M9K |
probably benign |
Het |
Nwd1 |
T |
C |
8: 73,394,003 (GRCm39) |
L422P |
probably damaging |
Het |
Or14j3 |
T |
A |
17: 37,901,110 (GRCm39) |
I45F |
probably damaging |
Het |
Papola |
G |
T |
12: 105,775,818 (GRCm39) |
G245C |
probably damaging |
Het |
Pcdhb6 |
T |
C |
18: 37,467,747 (GRCm39) |
S223P |
probably damaging |
Het |
Pdcd4 |
T |
C |
19: 53,915,638 (GRCm39) |
|
probably null |
Het |
Pigg |
T |
C |
5: 108,460,869 (GRCm39) |
F27L |
probably damaging |
Het |
Prpf40a |
A |
T |
2: 53,036,165 (GRCm39) |
M588K |
probably damaging |
Het |
Psme4 |
A |
G |
11: 30,770,944 (GRCm39) |
N764S |
probably benign |
Het |
Ptar1 |
A |
C |
19: 23,683,076 (GRCm39) |
E110A |
possibly damaging |
Het |
Rbm12 |
A |
T |
2: 155,937,818 (GRCm39) |
|
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,524,576 (GRCm39) |
T589A |
probably benign |
Het |
Rpl21-ps4 |
G |
T |
14: 11,227,831 (GRCm38) |
|
noncoding transcript |
Het |
Rpp38 |
T |
C |
2: 3,330,198 (GRCm39) |
T235A |
probably benign |
Het |
Sbno2 |
A |
T |
10: 79,903,236 (GRCm39) |
|
probably null |
Het |
Scn3a |
A |
T |
2: 65,354,510 (GRCm39) |
C337* |
probably null |
Het |
Sec61a2 |
T |
C |
2: 5,879,073 (GRCm39) |
T312A |
probably benign |
Het |
Snrpg |
C |
A |
6: 86,353,550 (GRCm39) |
D43E |
probably damaging |
Het |
Stag1 |
A |
T |
9: 100,639,822 (GRCm39) |
Q126L |
probably null |
Het |
Taar6 |
A |
G |
10: 23,861,081 (GRCm39) |
V155A |
probably benign |
Het |
Tet1 |
G |
A |
10: 62,715,388 (GRCm39) |
H136Y |
possibly damaging |
Het |
Tet1 |
C |
A |
10: 62,674,866 (GRCm39) |
S1070I |
probably damaging |
Het |
Tfcp2 |
T |
C |
15: 100,411,991 (GRCm39) |
T327A |
possibly damaging |
Het |
Tnfrsf13c |
C |
T |
15: 82,107,364 (GRCm39) |
V144M |
probably damaging |
Het |
Tnfrsf22 |
T |
A |
7: 143,198,533 (GRCm39) |
K61* |
probably null |
Het |
Trhr |
T |
C |
15: 44,061,074 (GRCm39) |
V198A |
probably benign |
Het |
Trp53inp2 |
A |
G |
2: 155,228,569 (GRCm39) |
R175G |
probably damaging |
Het |
Try10 |
G |
A |
6: 41,332,421 (GRCm39) |
G26R |
probably damaging |
Het |
Vmn1r205 |
A |
G |
13: 22,776,370 (GRCm39) |
V244A |
probably damaging |
Het |
Wrnip1 |
T |
A |
13: 32,990,857 (GRCm39) |
L372H |
probably damaging |
Het |
Zfp280d |
T |
A |
9: 72,215,261 (GRCm39) |
L149Q |
probably damaging |
Het |
Zfp445 |
A |
G |
9: 122,690,940 (GRCm39) |
V85A |
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 |
|
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 |
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 |