Incidental Mutation 'R8080:Cntn2'
| ID |
629258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn2
|
| Ensembl Gene |
ENSMUSG00000053024 |
| Gene Name |
contactin 2 |
| Synonyms |
Tax, axonin, TAG1, TAG-1, D130012K04Rik |
| MMRRC Submission |
067513-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R8080 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132437163-132470989 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132449536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 635
(D635G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086521]
|
| AlphaFold |
Q61330 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086521
AA Change: D635G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024
AA Change: D635G
| 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 |
|
| Meta Mutation Damage Score |
0.9514 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 94.9%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
G |
11: 69,023,900 (GRCm39) |
Q277R |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,945,401 (GRCm39) |
N226D |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,154,565 (GRCm39) |
L316Q |
probably damaging |
Het |
| Bcl2l11 |
T |
C |
2: 127,970,586 (GRCm39) |
C12R |
probably damaging |
Het |
| Bpnt1 |
A |
G |
1: 185,084,406 (GRCm39) |
T168A |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,463,357 (GRCm39) |
E1040D |
probably benign |
Het |
| Cdca2 |
G |
A |
14: 67,915,004 (GRCm39) |
Q752* |
probably null |
Het |
| Cntnap5b |
A |
T |
1: 99,999,928 (GRCm39) |
I229F |
probably benign |
Het |
| Ctr9 |
G |
A |
7: 110,650,774 (GRCm39) |
E900K |
possibly damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,690,500 (GRCm39) |
Y911C |
unknown |
Het |
| Egflam |
T |
A |
15: 7,427,561 (GRCm39) |
D2V |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,092,783 (GRCm39) |
N505K |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,933,790 (GRCm39) |
S267P |
probably damaging |
Het |
| Fancc |
G |
T |
13: 63,550,837 (GRCm39) |
T12K |
|
Het |
| Fbxo3 |
A |
G |
2: 103,864,012 (GRCm39) |
Y89C |
probably damaging |
Het |
| Garem2 |
A |
G |
5: 30,313,385 (GRCm39) |
Y83C |
probably damaging |
Het |
| Gm17079 |
T |
C |
14: 51,930,480 (GRCm39) |
T122A |
|
Het |
| Gm3696 |
A |
T |
14: 18,435,071 (GRCm39) |
L71* |
probably null |
Het |
| Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
| Gmip |
A |
T |
8: 70,268,736 (GRCm39) |
T454S |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,880,055 (GRCm39) |
T554S |
probably damaging |
Het |
| Hoxc9 |
C |
T |
15: 102,890,551 (GRCm39) |
T156M |
probably benign |
Het |
| Hrc |
A |
G |
7: 44,986,262 (GRCm39) |
E471G |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,261,863 (GRCm39) |
I2655V |
probably benign |
Het |
| Ighv1-64 |
T |
C |
12: 115,471,463 (GRCm39) |
H18R |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,649,270 (GRCm39) |
Y47C |
probably benign |
Het |
| Jmjd4 |
A |
G |
11: 59,341,179 (GRCm39) |
T37A |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,796,038 (GRCm39) |
G2915S |
possibly damaging |
Het |
| Kdm5d |
T |
C |
Y: 910,742 (GRCm39) |
F285L |
probably benign |
Het |
| Lmna |
A |
G |
3: 88,393,868 (GRCm39) |
F237L |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,172,607 (GRCm39) |
K1788E |
probably damaging |
Het |
| Mrgprb1 |
T |
C |
7: 48,096,658 (GRCm39) |
|
probably null |
Het |
| Myh1 |
T |
A |
11: 67,102,228 (GRCm39) |
Y840N |
probably benign |
Het |
| Negr1 |
C |
A |
3: 156,866,357 (GRCm39) |
A302E |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,227,045 (GRCm39) |
V1206A |
possibly damaging |
Het |
| Nup205 |
T |
C |
6: 35,204,311 (GRCm39) |
L1399P |
probably damaging |
Het |
| Or13a20 |
T |
C |
7: 140,232,387 (GRCm39) |
M165T |
probably benign |
Het |
| Or4a81 |
T |
A |
2: 89,618,971 (GRCm39) |
I242F |
possibly damaging |
Het |
| Or5v1b |
G |
A |
17: 37,841,555 (GRCm39) |
R229H |
probably benign |
Het |
| Or6c69b |
T |
C |
10: 129,626,997 (GRCm39) |
I154V |
probably benign |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,885 (GRCm39) |
L288S |
unknown |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,349 (GRCm39) |
D553G |
probably benign |
Het |
| Phip |
A |
G |
9: 82,769,662 (GRCm39) |
L1147P |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,320,706 (GRCm39) |
D1567G |
probably benign |
Het |
| Pigz |
T |
C |
16: 31,760,858 (GRCm39) |
C20R |
probably damaging |
Het |
| Plpp1 |
A |
G |
13: 113,004,002 (GRCm39) |
K252R |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,625,874 (GRCm39) |
S1759T |
unknown |
Het |
| Rbm42 |
G |
T |
7: 30,345,136 (GRCm39) |
P212T |
unknown |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
| Slc9a3 |
A |
C |
13: 74,314,146 (GRCm39) |
Q818P |
probably benign |
Het |
| St3gal4 |
T |
C |
9: 35,017,617 (GRCm39) |
|
probably null |
Het |
| Stard3nl |
G |
T |
13: 19,554,521 (GRCm39) |
A151E |
probably damaging |
Het |
| Syt9 |
T |
A |
7: 107,035,997 (GRCm39) |
I338N |
probably benign |
Het |
| Ticrr |
A |
T |
7: 79,334,012 (GRCm39) |
|
probably null |
Het |
| Tlr4 |
T |
A |
4: 66,757,713 (GRCm39) |
Y169N |
probably damaging |
Het |
| Tnc |
A |
C |
4: 63,894,706 (GRCm39) |
I1560S |
possibly damaging |
Het |
| Usp7 |
C |
A |
16: 8,515,771 (GRCm39) |
D644Y |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,618,577 (GRCm39) |
I1141T |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,790,521 (GRCm39) |
M503V |
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,013,521 (GRCm39) |
S530P |
unknown |
Het |
| Zfp600 |
T |
A |
4: 146,133,182 (GRCm39) |
C617S |
unknown |
Het |
| Zfp819 |
A |
G |
7: 43,267,148 (GRCm39) |
R544G |
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 |
|
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'- TATGAAGGTTTCCCTGCCTGC -3'
(R):5'- GCCCCATCTAGATACTGAGTCAG -3'
Sequencing Primer
(F):5'- TTCTCCCTGGAGGTAAGAGAACAC -3'
(R):5'- TCTAGATACTGAGTCAGCCCAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation