Incidental Mutation 'R5787:Cntn2'
ID |
448059 |
Institutional Source |
Beutler Lab
|
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 # |
R5787 (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 132450797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 29
(D29G)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086521]
|
AlphaFold |
Q61330 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086521
AA Change: D526G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000083707 Gene: ENSMUSG00000053024 AA Change: D526G
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 damaging
Transcript: ENSMUST00000188065
AA Change: D29G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188143
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190601
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Adam24 |
A |
G |
8: 41,133,941 (GRCm39) |
N470D |
possibly damaging |
Het |
Adcy8 |
T |
C |
15: 64,576,067 (GRCm39) |
D1027G |
probably damaging |
Het |
Amph |
A |
T |
13: 19,132,624 (GRCm39) |
I8F |
possibly damaging |
Het |
Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
Atp6v0a1 |
A |
G |
11: 100,909,400 (GRCm39) |
D43G |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,046,882 (GRCm39) |
|
probably null |
Het |
Btnl10 |
T |
A |
11: 58,811,169 (GRCm39) |
I164N |
probably damaging |
Het |
Ccdc174 |
C |
T |
6: 91,858,291 (GRCm39) |
Q71* |
probably null |
Het |
Ceacam3 |
G |
A |
7: 16,888,971 (GRCm39) |
E247K |
possibly damaging |
Het |
Chrna2 |
A |
G |
14: 66,386,457 (GRCm39) |
D201G |
probably benign |
Het |
Clasp2 |
G |
A |
9: 113,691,310 (GRCm39) |
D448N |
probably damaging |
Het |
Clcn2 |
C |
A |
16: 20,522,183 (GRCm39) |
R829L |
probably damaging |
Het |
Clock |
A |
G |
5: 76,384,898 (GRCm39) |
S440P |
probably damaging |
Het |
Cpne4 |
A |
G |
9: 104,899,600 (GRCm39) |
T428A |
probably benign |
Het |
Cul3 |
T |
C |
1: 80,260,438 (GRCm39) |
I304V |
probably benign |
Het |
Cyp11a1 |
C |
A |
9: 57,922,550 (GRCm39) |
Q77K |
probably benign |
Het |
Cyp3a25 |
A |
G |
5: 145,935,313 (GRCm39) |
V101A |
probably benign |
Het |
Cyp4f15 |
T |
C |
17: 32,921,782 (GRCm39) |
F485L |
probably damaging |
Het |
Des |
T |
A |
1: 75,340,290 (GRCm39) |
V399E |
probably damaging |
Het |
Dhx58 |
T |
C |
11: 100,592,145 (GRCm39) |
D301G |
possibly damaging |
Het |
Ear6 |
A |
G |
14: 52,091,855 (GRCm39) |
E134G |
probably benign |
Het |
Eif2b3 |
A |
G |
4: 116,901,637 (GRCm39) |
D100G |
probably damaging |
Het |
Erich1 |
T |
C |
8: 14,083,776 (GRCm39) |
|
probably null |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Htr4 |
T |
C |
18: 62,546,693 (GRCm39) |
V82A |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,052,985 (GRCm39) |
D219G |
probably damaging |
Het |
Ifit1 |
T |
A |
19: 34,624,975 (GRCm39) |
V37E |
probably benign |
Het |
Isg20 |
T |
A |
7: 78,569,558 (GRCm39) |
D176E |
probably benign |
Het |
Islr2 |
A |
G |
9: 58,105,637 (GRCm39) |
V585A |
probably damaging |
Het |
Kat6a |
A |
G |
8: 23,422,663 (GRCm39) |
E991G |
probably damaging |
Het |
Kcnv1 |
T |
C |
15: 44,977,726 (GRCm39) |
Y104C |
probably damaging |
Het |
Lrtm1 |
G |
C |
14: 28,743,947 (GRCm39) |
E138D |
possibly damaging |
Het |
Mllt3 |
A |
T |
4: 87,759,057 (GRCm39) |
D330E |
probably damaging |
Het |
Mpp7 |
T |
C |
18: 7,461,682 (GRCm39) |
N64D |
probably benign |
Het |
Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
Nop9 |
T |
G |
14: 55,983,791 (GRCm39) |
C141G |
possibly damaging |
Het |
Nos1ap |
T |
C |
1: 170,146,141 (GRCm39) |
E471G |
probably benign |
Het |
Npr2 |
A |
G |
4: 43,633,593 (GRCm39) |
T246A |
possibly damaging |
Het |
Or2t1 |
A |
C |
14: 14,328,725 (GRCm38) |
M205L |
probably damaging |
Het |
Or4a76 |
T |
A |
2: 89,461,018 (GRCm39) |
I75F |
probably benign |
Het |
Or6z1 |
A |
T |
7: 6,504,989 (GRCm39) |
S79T |
probably damaging |
Het |
Pdlim4 |
T |
A |
11: 53,946,042 (GRCm39) |
D271V |
probably damaging |
Het |
Pik3r6 |
T |
C |
11: 68,430,753 (GRCm39) |
V518A |
possibly damaging |
Het |
Rab5a |
C |
T |
17: 53,804,650 (GRCm39) |
P87S |
probably damaging |
Het |
Rbsn |
C |
T |
6: 92,176,797 (GRCm39) |
V239I |
possibly damaging |
Het |
Rsph14 |
T |
A |
10: 74,793,460 (GRCm39) |
I314F |
possibly damaging |
Het |
S1pr2 |
A |
T |
9: 20,879,232 (GRCm39) |
S199T |
probably benign |
Het |
Scrib |
A |
G |
15: 75,931,151 (GRCm39) |
L902P |
probably damaging |
Het |
Slc25a23 |
T |
C |
17: 57,360,825 (GRCm39) |
T200A |
probably damaging |
Het |
Slc8a1 |
A |
T |
17: 81,696,166 (GRCm39) |
I956N |
probably damaging |
Het |
Spef2 |
A |
G |
15: 9,748,812 (GRCm39) |
V15A |
possibly damaging |
Het |
Stim1 |
T |
A |
7: 102,084,647 (GRCm39) |
V533E |
possibly damaging |
Het |
Tbck |
A |
T |
3: 132,443,329 (GRCm39) |
D585V |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,271,037 (GRCm39) |
L80Q |
probably benign |
Het |
Trim67 |
C |
T |
8: 125,521,051 (GRCm39) |
R138* |
probably null |
Het |
Ttn |
T |
C |
2: 76,580,627 (GRCm39) |
N23422S |
probably damaging |
Het |
Uba6 |
A |
G |
5: 86,260,511 (GRCm39) |
*1023Q |
probably null |
Het |
Vmn1r208 |
T |
C |
13: 22,956,841 (GRCm39) |
N219D |
possibly damaging |
Het |
Vmn1r8 |
T |
A |
6: 57,013,244 (GRCm39) |
S98R |
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 |
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 |
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'- GTCCCCTGTCTTATCTGGAAGG -3'
(R):5'- GCTTTCAAGGCAACGTCAGAAC -3'
Sequencing Primer
(F):5'- CCTGTCTTATCTGGAAGGAGGGAG -3'
(R):5'- AGAACTCAGTCTCTCTTGGGAC -3'
|
Posted On |
2016-12-15 |