Incidental Mutation 'R9385:Cntn2'
ID |
710234 |
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: 0.251)
|
Stock # |
R9385 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
132437163-132470989 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 132455912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 202
(S202L)
|
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: S202L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000083707 Gene: ENSMUSG00000053024 AA Change: S202L
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,207,966 (GRCm39) |
I554T |
possibly damaging |
Het |
Adamts7 |
C |
A |
9: 90,077,258 (GRCm39) |
C1308* |
probably null |
Het |
Ank2 |
A |
G |
3: 126,753,366 (GRCm39) |
V305A |
probably benign |
Het |
Apob |
A |
G |
12: 8,056,399 (GRCm39) |
N1627S |
possibly damaging |
Het |
Atp10a |
A |
T |
7: 58,477,887 (GRCm39) |
Q1310L |
probably benign |
Het |
Atp8b4 |
A |
T |
2: 126,322,551 (GRCm39) |
Y29* |
probably null |
Het |
Card11 |
C |
A |
5: 140,871,276 (GRCm39) |
R742S |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,405,422 (GRCm39) |
D365G |
probably benign |
Het |
Ccdc88b |
G |
A |
19: 6,833,533 (GRCm39) |
R211W |
probably benign |
Het |
Cda |
T |
G |
4: 138,078,598 (GRCm39) |
I55L |
probably benign |
Het |
Cdkl3 |
A |
C |
11: 51,926,779 (GRCm39) |
E577D |
probably benign |
Het |
Cel |
T |
C |
2: 28,450,587 (GRCm39) |
D146G |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,426,878 (GRCm39) |
L919S |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,230,880 (GRCm39) |
S1403P |
probably damaging |
Het |
Col15a1 |
C |
T |
4: 47,300,473 (GRCm39) |
Q1045* |
probably null |
Het |
Csmd1 |
T |
C |
8: 16,034,756 (GRCm39) |
T2472A |
probably benign |
Het |
Ctbp2 |
G |
A |
7: 132,601,069 (GRCm39) |
R22C |
probably benign |
Het |
Ddit4 |
A |
G |
10: 59,787,178 (GRCm39) |
S53P |
probably damaging |
Het |
Ddx52 |
G |
T |
11: 83,843,096 (GRCm39) |
C365F |
probably damaging |
Het |
Dnhd1 |
C |
A |
7: 105,361,972 (GRCm39) |
L3677I |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,840,203 (GRCm39) |
T135A |
probably benign |
Het |
Espl1 |
T |
A |
15: 102,207,185 (GRCm39) |
D216E |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,819,793 (GRCm39) |
D5175E |
possibly damaging |
Het |
Fxr1 |
A |
G |
3: 34,074,120 (GRCm39) |
|
probably benign |
Het |
Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
Gm3264 |
T |
C |
14: 16,058,217 (GRCm39) |
I8T |
possibly damaging |
Het |
Gsdmc |
A |
T |
15: 63,675,486 (GRCm39) |
Y110N |
possibly damaging |
Het |
H13 |
A |
G |
2: 152,537,413 (GRCm39) |
N286S |
probably benign |
Het |
H2ac1 |
A |
T |
13: 24,118,679 (GRCm39) |
I79F |
probably damaging |
Het |
Heatr1 |
A |
G |
13: 12,421,423 (GRCm39) |
D441G |
probably damaging |
Het |
Hps6 |
A |
G |
19: 45,994,349 (GRCm39) |
D762G |
probably damaging |
Het |
Hyou1 |
C |
A |
9: 44,292,812 (GRCm39) |
Q141K |
probably benign |
Het |
Lpin3 |
T |
C |
2: 160,738,993 (GRCm39) |
I267T |
probably benign |
Het |
Mdc1 |
A |
G |
17: 36,161,396 (GRCm39) |
K770E |
probably benign |
Het |
Mlh3 |
C |
T |
12: 85,316,144 (GRCm39) |
R14H |
probably damaging |
Het |
Nfxl1 |
C |
A |
5: 72,694,750 (GRCm39) |
V478F |
probably benign |
Het |
Nhlrc3 |
A |
G |
3: 53,361,015 (GRCm39) |
W247R |
probably damaging |
Het |
Nlrc3 |
C |
T |
16: 3,781,876 (GRCm39) |
G527D |
probably damaging |
Het |
Nop9 |
A |
G |
14: 55,988,584 (GRCm39) |
E342G |
probably benign |
Het |
Ntn1 |
C |
A |
11: 68,276,013 (GRCm39) |
G312C |
probably damaging |
Het |
Opcml |
T |
C |
9: 28,586,459 (GRCm39) |
V59A |
possibly damaging |
Het |
Opn1sw |
T |
G |
6: 29,379,425 (GRCm39) |
Y193S |
probably damaging |
Het |
Or10ad1c |
C |
T |
15: 98,085,486 (GRCm39) |
S64N |
probably damaging |
Het |
Or5p54 |
T |
A |
7: 107,554,780 (GRCm39) |
*311K |
probably null |
Het |
Pabpc4l |
A |
T |
3: 46,401,137 (GRCm39) |
V169E |
probably damaging |
Het |
Pde3a |
A |
G |
6: 141,437,982 (GRCm39) |
D1017G |
probably benign |
Het |
Plagl2 |
C |
T |
2: 153,074,238 (GRCm39) |
C221Y |
probably damaging |
Het |
Plppr4 |
G |
T |
3: 117,116,377 (GRCm39) |
N493K |
possibly damaging |
Het |
Plxna2 |
T |
C |
1: 194,431,724 (GRCm39) |
V571A |
possibly damaging |
Het |
Pnma2 |
A |
G |
14: 67,153,371 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
T |
A |
9: 107,929,467 (GRCm39) |
E1234D |
probably benign |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
Slc22a23 |
T |
C |
13: 34,528,561 (GRCm39) |
S74G |
probably benign |
Het |
Slc36a4 |
T |
C |
9: 15,645,563 (GRCm39) |
I330T |
probably damaging |
Het |
Snrk |
A |
T |
9: 121,995,463 (GRCm39) |
D414V |
probably benign |
Het |
Snrnp200 |
G |
A |
2: 127,079,978 (GRCm39) |
|
probably null |
Het |
Spata31d1b |
T |
C |
13: 59,863,403 (GRCm39) |
S184P |
probably damaging |
Het |
Tas2r140 |
A |
T |
6: 133,032,241 (GRCm39) |
N172K |
probably benign |
Het |
Tbc1d4 |
G |
T |
14: 101,700,356 (GRCm39) |
Q858K |
probably damaging |
Het |
Tex55 |
T |
G |
16: 38,648,407 (GRCm39) |
D234A |
probably benign |
Het |
Tial1 |
A |
G |
7: 128,044,209 (GRCm39) |
C102R |
unknown |
Het |
Ugt8a |
A |
T |
3: 125,665,263 (GRCm39) |
D411E |
probably benign |
Het |
Usp34 |
A |
G |
11: 23,399,223 (GRCm39) |
D2404G |
|
Het |
Vmn1r10 |
A |
C |
6: 57,090,833 (GRCm39) |
I142L |
probably benign |
Het |
Wdr97 |
A |
G |
15: 76,240,367 (GRCm39) |
T352A |
|
Het |
Xpo7 |
A |
T |
14: 70,925,733 (GRCm39) |
D435E |
probably damaging |
Het |
Zmym1 |
A |
G |
4: 126,952,683 (GRCm39) |
S33P |
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 |
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 |
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'- CAGCAGGACCTCATATATTCTGAGC -3'
(R):5'- ACAGAGTTTGCAGCATGTTTGG -3'
Sequencing Primer
(F):5'- CTGAGCTGCAATTCTTAAGCTTG -3'
(R):5'- CAGCATGTTTGGGGTCTTGCC -3'
|
Posted On |
2022-04-18 |