Incidental Mutation 'R2251:Cntn2'
| ID |
241651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn2
|
| Ensembl Gene |
ENSMUSG00000053024 |
| Gene Name |
contactin 2 |
| Synonyms |
Tax, axonin, TAG1, TAG-1, D130012K04Rik |
| MMRRC Submission |
040251-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R2251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
A |
14: 59,380,061 (GRCm39) |
S79F |
probably damaging |
Het |
| Abl1 |
T |
A |
2: 31,669,131 (GRCm39) |
V170E |
probably damaging |
Het |
| Akap13 |
C |
T |
7: 75,389,225 (GRCm39) |
T2381M |
possibly damaging |
Het |
| Armc8 |
T |
A |
9: 99,384,653 (GRCm39) |
|
probably null |
Het |
| B3gnt3 |
A |
T |
8: 72,145,462 (GRCm39) |
M302K |
probably damaging |
Het |
| Casp3 |
G |
T |
8: 47,090,990 (GRCm39) |
W214L |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,489,814 (GRCm39) |
V463A |
probably benign |
Het |
| Dgkg |
A |
T |
16: 22,441,010 (GRCm39) |
M1K |
probably null |
Het |
| Faap20 |
A |
C |
4: 155,335,010 (GRCm39) |
E37A |
possibly damaging |
Het |
| Fam186a |
T |
C |
15: 99,842,978 (GRCm39) |
T1089A |
probably benign |
Het |
| Fgb |
T |
G |
3: 82,950,591 (GRCm39) |
T388P |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,972,439 (GRCm39) |
R1498W |
probably damaging |
Het |
| Gch1 |
T |
C |
14: 47,426,798 (GRCm39) |
|
probably benign |
Het |
| Gzf1 |
T |
C |
2: 148,525,856 (GRCm39) |
M109T |
probably damaging |
Het |
| H2-M10.1 |
A |
C |
17: 36,636,498 (GRCm39) |
L102R |
probably damaging |
Het |
| Kpna1 |
T |
C |
16: 35,841,939 (GRCm39) |
Y280H |
possibly damaging |
Het |
| Mbtps2 |
A |
T |
X: 156,342,029 (GRCm39) |
F270L |
probably benign |
Het |
| Mrpl40 |
T |
C |
16: 18,694,125 (GRCm39) |
H29R |
probably benign |
Het |
| N4bp2 |
G |
A |
5: 65,964,071 (GRCm39) |
V707I |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,103,025 (GRCm39) |
K608E |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,442,799 (GRCm39) |
D458G |
probably benign |
Het |
| Ngdn |
T |
C |
14: 55,260,852 (GRCm39) |
|
probably null |
Het |
| Nr3c1 |
G |
T |
18: 39,619,804 (GRCm39) |
T161K |
probably benign |
Het |
| Or2n1e |
C |
T |
17: 38,585,794 (GRCm39) |
A44V |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,136,655 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or52e15 |
A |
T |
7: 104,645,802 (GRCm39) |
M103K |
probably damaging |
Het |
| Or5ak20 |
A |
G |
2: 85,184,202 (GRCm39) |
S23P |
possibly damaging |
Het |
| Pbld2 |
G |
T |
10: 62,860,384 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,784,177 (GRCm39) |
Y700C |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,554,246 (GRCm39) |
N69S |
probably benign |
Het |
| Pwp2 |
T |
A |
10: 78,016,922 (GRCm39) |
Q266L |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,174 (GRCm39) |
M252V |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,914,987 (GRCm39) |
I1184V |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,358,658 (GRCm39) |
Y334H |
probably benign |
Het |
| Smim11 |
T |
C |
16: 92,107,716 (GRCm39) |
Y14H |
probably benign |
Het |
| Spata17 |
A |
T |
1: 186,780,670 (GRCm39) |
L359Q |
possibly damaging |
Het |
| Spn |
T |
C |
7: 126,736,331 (GRCm39) |
K59E |
probably benign |
Het |
| Tap2 |
A |
G |
17: 34,430,928 (GRCm39) |
S343G |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,440,933 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
T |
A |
14: 50,598,249 (GRCm39) |
N78K |
probably benign |
Het |
| Tm9sf2 |
T |
A |
14: 122,377,143 (GRCm39) |
S224T |
probably benign |
Het |
| Trpm1 |
G |
A |
7: 63,859,724 (GRCm39) |
G261D |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,377,405 (GRCm39) |
D938E |
probably damaging |
Het |
| Usp3 |
T |
C |
9: 66,469,860 (GRCm39) |
D87G |
probably damaging |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,718 (GRCm39) |
K40E |
probably damaging |
Het |
| Vps45 |
A |
T |
3: 95,964,352 (GRCm39) |
D56E |
probably benign |
Het |
| Vstm2a |
C |
A |
11: 16,318,273 (GRCm39) |
Q231K |
probably benign |
Het |
| Zfp575 |
A |
T |
7: 24,285,015 (GRCm39) |
C209S |
probably damaging |
Het |
| Zfp768 |
T |
C |
7: 126,943,550 (GRCm39) |
T193A |
probably benign |
Het |
| Zfp867 |
T |
A |
11: 59,356,319 (GRCm39) |
R38* |
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 |
|
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTCATGTCTTGAAACTGGTG -3'
(R):5'- TAGCTTACAGCCTCTGCAGC -3'
Sequencing Primer
(F):5'- CATGTCTTGAAACTGGTGCTACTCAG -3'
(R):5'- TTACAGCCTCTGCAGCACACC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation