Incidental Mutation 'R4710:Cntn2'
ID |
353177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn2
|
Ensembl Gene |
ENSMUSG00000053024 |
Gene Name |
contactin 2 |
Synonyms |
Tax, axonin, TAG1, TAG-1, D130012K04Rik |
MMRRC Submission |
042019-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
R4710 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132437163-132470989 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 132455963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 185
(H185L)
|
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: H185L
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000083707 Gene: ENSMUSG00000053024 AA Change: H185L
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
|
Meta Mutation Damage Score |
0.1650 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
99% (75/76) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,618,262 (GRCm39) |
Q185L |
probably benign |
Het |
Acaca |
T |
A |
11: 84,283,163 (GRCm39) |
I2243N |
possibly damaging |
Het |
Adamts18 |
A |
G |
8: 114,433,558 (GRCm39) |
S1059P |
probably damaging |
Het |
Aox4 |
A |
T |
1: 58,294,797 (GRCm39) |
K1002M |
probably damaging |
Het |
Ap1b1 |
A |
G |
11: 4,981,664 (GRCm39) |
Y524C |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Bpifb6 |
T |
A |
2: 153,750,436 (GRCm39) |
I309N |
possibly damaging |
Het |
Cd209b |
T |
C |
8: 3,974,215 (GRCm39) |
E99G |
probably damaging |
Het |
Col4a2 |
C |
A |
8: 11,459,462 (GRCm39) |
P299Q |
probably benign |
Het |
Commd3 |
A |
G |
2: 18,679,093 (GRCm39) |
N106S |
probably benign |
Het |
Coro7 |
T |
G |
16: 4,452,797 (GRCm39) |
|
probably benign |
Het |
Ctf1 |
C |
A |
7: 127,316,252 (GRCm39) |
P66Q |
probably damaging |
Het |
Dclre1c |
T |
C |
2: 3,441,898 (GRCm39) |
|
probably null |
Het |
Dnaaf3 |
A |
T |
7: 4,529,493 (GRCm39) |
L317Q |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,368,903 (GRCm39) |
L1667P |
probably damaging |
Het |
Dpp4 |
A |
G |
2: 62,190,659 (GRCm39) |
I399T |
probably benign |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Erg |
T |
C |
16: 95,190,893 (GRCm39) |
D90G |
possibly damaging |
Het |
F11 |
T |
C |
8: 45,703,183 (GRCm39) |
Y169C |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fcgbp |
A |
T |
7: 27,794,386 (GRCm39) |
M1197L |
probably benign |
Het |
Gimd1 |
T |
C |
3: 132,340,609 (GRCm39) |
S42P |
possibly damaging |
Het |
Gm5526 |
T |
A |
1: 45,896,579 (GRCm39) |
|
noncoding transcript |
Het |
Gnl2 |
T |
A |
4: 124,947,252 (GRCm39) |
S625T |
probably benign |
Het |
H2-Q2 |
A |
G |
17: 35,562,278 (GRCm39) |
E175G |
probably damaging |
Het |
Hmgxb3 |
G |
A |
18: 61,270,547 (GRCm39) |
P926S |
probably damaging |
Het |
Ifi213 |
G |
A |
1: 173,394,738 (GRCm39) |
|
probably benign |
Het |
Inhba |
T |
C |
13: 16,201,068 (GRCm39) |
V210A |
probably benign |
Het |
Kansl1l |
G |
A |
1: 66,840,655 (GRCm39) |
A215V |
possibly damaging |
Het |
Kcnk1 |
T |
A |
8: 126,756,267 (GRCm39) |
V263D |
probably damaging |
Het |
Kcnk9 |
A |
G |
15: 72,384,824 (GRCm39) |
I118T |
probably damaging |
Het |
Lamb1 |
A |
G |
12: 31,332,582 (GRCm39) |
I283V |
probably benign |
Het |
Larp7-ps |
T |
C |
4: 92,079,212 (GRCm39) |
E203G |
possibly damaging |
Het |
Lias |
A |
G |
5: 65,555,070 (GRCm39) |
D88G |
probably benign |
Het |
Lrrk2 |
G |
A |
15: 91,584,130 (GRCm39) |
V297M |
possibly damaging |
Het |
Maea |
C |
T |
5: 33,526,034 (GRCm39) |
R237C |
probably benign |
Het |
Mdfi |
T |
A |
17: 48,135,511 (GRCm39) |
N73I |
probably damaging |
Het |
Mphosph6 |
T |
A |
8: 118,528,641 (GRCm39) |
M1L |
probably damaging |
Het |
Mta2 |
T |
A |
19: 8,926,517 (GRCm39) |
I486N |
probably damaging |
Het |
Nbr1 |
C |
T |
11: 101,466,101 (GRCm39) |
P769L |
probably damaging |
Het |
Ncam2 |
T |
A |
16: 81,262,594 (GRCm39) |
|
probably null |
Het |
Ndel1 |
A |
G |
11: 68,736,163 (GRCm39) |
Y26H |
probably damaging |
Het |
Neb |
T |
C |
2: 52,150,610 (GRCm39) |
R2473G |
probably benign |
Het |
Or10ag53 |
T |
A |
2: 87,082,384 (GRCm39) |
D34E |
possibly damaging |
Het |
Or2t46 |
A |
T |
11: 58,472,548 (GRCm39) |
I293F |
probably damaging |
Het |
Or4c3d |
T |
C |
2: 89,882,494 (GRCm39) |
Y58C |
probably damaging |
Het |
Or5h19 |
T |
A |
16: 58,856,638 (GRCm39) |
H154L |
possibly damaging |
Het |
Or6d13 |
T |
C |
6: 116,517,611 (GRCm39) |
Y66H |
possibly damaging |
Het |
Or9a2 |
G |
T |
6: 41,748,442 (GRCm39) |
Q264K |
probably benign |
Het |
Prkn |
A |
C |
17: 12,073,720 (GRCm39) |
Q346P |
possibly damaging |
Het |
Prrc2b |
T |
A |
2: 32,083,869 (GRCm39) |
S236R |
possibly damaging |
Het |
Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
Rnf112 |
T |
C |
11: 61,340,657 (GRCm39) |
D491G |
probably damaging |
Het |
Rnf220 |
C |
T |
4: 117,146,411 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
G |
A |
2: 112,596,646 (GRCm39) |
L2483F |
probably damaging |
Het |
Sema6a |
T |
C |
18: 47,403,750 (GRCm39) |
N624S |
probably benign |
Het |
Sgms1 |
C |
T |
19: 32,137,537 (GRCm39) |
V10M |
probably damaging |
Het |
Slc23a2 |
T |
C |
2: 131,898,629 (GRCm39) |
N636S |
probably benign |
Het |
Slc25a48 |
C |
T |
13: 56,611,379 (GRCm39) |
T162I |
probably damaging |
Het |
Smtn |
G |
A |
11: 3,474,663 (GRCm39) |
S716F |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,068,053 (GRCm39) |
L850P |
probably damaging |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sox18 |
A |
G |
2: 181,312,688 (GRCm39) |
Y148H |
probably damaging |
Het |
Stk-ps1 |
A |
G |
17: 36,708,562 (GRCm39) |
|
noncoding transcript |
Het |
Tas2r104 |
T |
A |
6: 131,662,407 (GRCm39) |
T101S |
probably damaging |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,582,428 (GRCm39) |
Y22822H |
probably damaging |
Het |
Vmn2r4 |
A |
G |
3: 64,317,201 (GRCm39) |
|
probably null |
Het |
Vmn2r53 |
T |
A |
7: 12,335,129 (GRCm39) |
H177L |
probably benign |
Het |
Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
probably damaging |
Het |
Zfat |
A |
T |
15: 68,052,131 (GRCm39) |
D554E |
probably benign |
Het |
Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
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 |
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'- AGGCCTATTGACCCTTTCAGC -3'
(R):5'- AGAGTCAAAGTCATCTCTCCCC -3'
Sequencing Primer
(F):5'- AGCCTCCATTACCCTAGATCCTGAC -3'
(R):5'- AGCCCCTGATCAGAGCTG -3'
|
Posted On |
2015-10-21 |