Incidental Mutation 'R8683:Cntn2'
| ID |
661853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn2
|
| Ensembl Gene |
ENSMUSG00000053024 |
| Gene Name |
contactin 2 |
| Synonyms |
Tax, axonin, TAG1, TAG-1, D130012K04Rik |
| MMRRC Submission |
068538-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R8683 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
132437163-132470989 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 132450731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 548
(L548Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086521]
|
| AlphaFold |
Q61330 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086521
AA Change: L548Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024
AA Change: L548Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,768,881 (GRCm39) |
D227G |
possibly damaging |
Het |
| Actl11 |
T |
A |
9: 107,806,065 (GRCm39) |
D129E |
probably benign |
Het |
| Adam12 |
T |
A |
7: 133,491,929 (GRCm39) |
E877D |
possibly damaging |
Het |
| Adarb2 |
T |
A |
13: 8,807,395 (GRCm39) |
V732E |
probably damaging |
Het |
| Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
| Adgrg1 |
C |
T |
8: 95,736,276 (GRCm39) |
H477Y |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,623,321 (GRCm39) |
E99G |
possibly damaging |
Het |
| Ankk1 |
T |
A |
9: 49,329,292 (GRCm39) |
M93L |
|
Het |
| Ankmy1 |
A |
T |
1: 92,812,972 (GRCm39) |
L446M |
possibly damaging |
Het |
| Anxa10 |
T |
A |
8: 62,510,825 (GRCm39) |
Y309F |
probably damaging |
Het |
| Arg2 |
C |
T |
12: 79,196,794 (GRCm39) |
Q172* |
probably null |
Het |
| Atp6v0a4 |
T |
A |
6: 38,025,926 (GRCm39) |
*834L |
probably null |
Het |
| Avl9 |
T |
A |
6: 56,730,378 (GRCm39) |
S574T |
probably benign |
Het |
| AW551984 |
G |
A |
9: 39,511,005 (GRCm39) |
T194I |
possibly damaging |
Het |
| Azin1 |
G |
A |
15: 38,493,775 (GRCm39) |
L283F |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,916,114 (GRCm39) |
A1677T |
possibly damaging |
Het |
| Carm1 |
A |
T |
9: 21,497,464 (GRCm39) |
D342V |
possibly damaging |
Het |
| Ccr4 |
T |
C |
9: 114,321,216 (GRCm39) |
D283G |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Copg1 |
A |
G |
6: 87,869,637 (GRCm39) |
D172G |
probably damaging |
Het |
| Cyp2j12 |
T |
A |
4: 96,009,805 (GRCm39) |
N185Y |
probably benign |
Het |
| Dapk3 |
T |
C |
10: 81,026,069 (GRCm39) |
L120P |
probably damaging |
Het |
| Dclre1b |
A |
C |
3: 103,711,298 (GRCm39) |
S204R |
probably damaging |
Het |
| Dennd2a |
G |
A |
6: 39,500,137 (GRCm39) |
R143* |
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,289,367 (GRCm39) |
E1185D |
probably benign |
Het |
| Dop1b |
C |
T |
16: 93,568,699 (GRCm39) |
T1587I |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,570,809 (GRCm39) |
T1603A |
probably benign |
Het |
| Dym |
T |
A |
18: 75,363,089 (GRCm39) |
V531E |
probably damaging |
Het |
| Dync2i1 |
G |
T |
12: 116,193,262 (GRCm39) |
D563E |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,834,515 (GRCm39) |
S788G |
probably benign |
Het |
| Eif2b4 |
A |
T |
5: 31,345,274 (GRCm39) |
F453L |
probably damaging |
Het |
| Entpd8 |
G |
A |
2: 24,974,992 (GRCm39) |
G441D |
probably damaging |
Het |
| Galnt6 |
A |
T |
15: 100,592,603 (GRCm39) |
Y535N |
probably damaging |
Het |
| Garin2 |
TGATGTCACAGATGTCAC |
TGATGTCAC |
12: 78,762,057 (GRCm39) |
|
probably benign |
Het |
| Gm10340 |
T |
A |
14: 14,826,748 (GRCm39) |
D72E |
possibly damaging |
Het |
| Gm13102 |
T |
A |
4: 143,835,680 (GRCm39) |
D449E |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,440,220 (GRCm39) |
K386N |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,366,044 (GRCm39) |
C212* |
probably null |
Het |
| Hoxa2 |
C |
A |
6: 52,141,540 (GRCm39) |
A29S |
possibly damaging |
Het |
| Ifnar1 |
T |
A |
16: 91,296,332 (GRCm39) |
W278R |
probably damaging |
Het |
| Irf7 |
C |
T |
7: 140,843,422 (GRCm39) |
G389R |
probably null |
Het |
| Lipo3 |
G |
A |
19: 33,759,604 (GRCm39) |
L211F |
probably benign |
Het |
| Mars2 |
C |
T |
1: 55,277,741 (GRCm39) |
T448I |
probably benign |
Het |
| Mcm4 |
C |
A |
16: 15,453,138 (GRCm39) |
G184C |
probably damaging |
Het |
| Mmaa |
C |
T |
8: 79,994,598 (GRCm39) |
A403T |
probably damaging |
Het |
| Mmel1 |
A |
G |
4: 154,973,985 (GRCm39) |
I342V |
probably benign |
Het |
| Myb |
T |
C |
10: 21,026,405 (GRCm39) |
T188A |
possibly damaging |
Het |
| Myo1g |
C |
T |
11: 6,467,569 (GRCm39) |
|
probably null |
Het |
| Npas2 |
A |
G |
1: 39,386,708 (GRCm39) |
Q659R |
probably benign |
Het |
| Npr1 |
A |
G |
3: 90,362,497 (GRCm39) |
V941A |
probably benign |
Het |
| Numa1 |
T |
G |
7: 101,626,617 (GRCm39) |
M1R |
probably null |
Het |
| Obscn |
T |
C |
11: 58,967,705 (GRCm39) |
S2700G |
probably benign |
Het |
| Or2t35 |
T |
A |
14: 14,407,480 (GRCm38) |
L84H |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,203 (GRCm39) |
M157K |
possibly damaging |
Het |
| Or5g25 |
A |
T |
2: 85,478,410 (GRCm39) |
I85N |
probably benign |
Het |
| Pdpr |
T |
A |
8: 111,850,492 (GRCm39) |
H476Q |
probably damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,821,805 (GRCm39) |
S1630T |
|
Het |
| Prdm16 |
A |
G |
4: 154,613,161 (GRCm39) |
S89P |
probably damaging |
Het |
| Ptgdr2 |
T |
A |
19: 10,917,893 (GRCm39) |
W137R |
possibly damaging |
Het |
| Ptpra |
A |
G |
2: 130,394,187 (GRCm39) |
I784V |
possibly damaging |
Het |
| Rabepk |
G |
T |
2: 34,685,188 (GRCm39) |
D77E |
possibly damaging |
Het |
| Sh2b1 |
GGGGACCAGCTCAGCCACGGGGACCAGCTC |
GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,743 (GRCm39) |
|
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,629,616 (GRCm39) |
S994T |
possibly damaging |
Het |
| Sparc |
A |
G |
11: 55,292,783 (GRCm39) |
C147R |
probably damaging |
Het |
| Supt6 |
A |
T |
11: 78,108,727 (GRCm39) |
D1191E |
probably benign |
Het |
| Susd4 |
T |
C |
1: 182,719,832 (GRCm39) |
|
probably null |
Het |
| Tbc1d5 |
A |
G |
17: 51,291,631 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
G |
9: 42,278,268 (GRCm39) |
D1080A |
probably damaging |
Het |
| Tenm4 |
G |
T |
7: 96,552,064 (GRCm39) |
W2538L |
probably damaging |
Het |
| Trappc9 |
A |
G |
15: 72,884,664 (GRCm39) |
F439L |
probably benign |
Het |
| Tsbp1 |
A |
T |
17: 34,667,782 (GRCm39) |
Q158L |
possibly damaging |
Het |
| Vegfa |
A |
T |
17: 46,342,396 (GRCm39) |
S141T |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,996,873 (GRCm39) |
D132V |
probably benign |
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 |
|
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'- GTCCTAGGGTGAGCTTTCTC -3'
(R):5'- TCTCTTCTAGGGGTACAGGC -3'
Sequencing Primer
(F):5'- AGCTTTCTCGGCATGGC -3'
(R):5'- TCTTCTAGGGGTACAGGCCAGAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation