Incidental Mutation 'R2269:Cntn1'
| ID |
242351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn1
|
| Ensembl Gene |
ENSMUSG00000055022 |
| Gene Name |
contactin 1 |
| Synonyms |
F3cam, usl, CNTN |
| MMRRC Submission |
040269-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2269 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91949034-92239834 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 92192863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000109]
[ENSMUST00000068378]
[ENSMUST00000169825]
|
| AlphaFold |
P12960 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000109
|
| SMART Domains |
Protein: ENSMUSP00000000109
Gene: ENSMUSG00000055022
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
56 |
121 |
4.07e-4 |
SMART |
|
IG
|
143 |
232 |
1.25e-4 |
SMART |
|
IGc2
|
254 |
317 |
1.24e-17 |
SMART |
|
IGc2
|
343 |
398 |
4.22e-11 |
SMART |
|
IGc2
|
427 |
491 |
2.52e-9 |
SMART |
|
IG
|
511 |
603 |
3.51e-8 |
SMART |
|
FN3
|
606 |
692 |
6.69e-12 |
SMART |
|
FN3
|
709 |
795 |
1.17e-2 |
SMART |
|
FN3
|
811 |
892 |
1.16e-6 |
SMART |
|
FN3
|
907 |
987 |
2.46e-1 |
SMART |
|
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068378
|
| SMART Domains |
Protein: ENSMUSP00000067842
Gene: ENSMUSG00000055022
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
56 |
121 |
4.07e-4 |
SMART |
|
IG
|
143 |
232 |
1.25e-4 |
SMART |
|
IGc2
|
254 |
317 |
1.24e-17 |
SMART |
|
IGc2
|
343 |
398 |
4.22e-11 |
SMART |
|
IGc2
|
427 |
491 |
2.52e-9 |
SMART |
|
IG
|
511 |
603 |
3.51e-8 |
SMART |
|
FN3
|
606 |
692 |
6.69e-12 |
SMART |
|
FN3
|
709 |
795 |
1.17e-2 |
SMART |
|
FN3
|
811 |
892 |
1.16e-6 |
SMART |
|
FN3
|
907 |
987 |
2.46e-1 |
SMART |
|
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169825
|
| SMART Domains |
Protein: ENSMUSP00000133063
Gene: ENSMUSG00000055022
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
56 |
121 |
4.07e-4 |
SMART |
|
IG
|
143 |
232 |
1.25e-4 |
SMART |
|
IGc2
|
254 |
317 |
1.24e-17 |
SMART |
|
IGc2
|
343 |
398 |
4.22e-11 |
SMART |
|
IGc2
|
427 |
491 |
2.52e-9 |
SMART |
|
IG
|
511 |
603 |
3.51e-8 |
SMART |
|
FN3
|
606 |
692 |
6.69e-12 |
SMART |
|
FN3
|
709 |
795 |
1.17e-2 |
SMART |
|
FN3
|
811 |
892 |
1.16e-6 |
SMART |
|
FN3
|
907 |
987 |
2.46e-1 |
SMART |
|
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (79/81) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mutations of this gene result in growth retardation, progressive ataxia and death prior to weaning. A targeted null mutation, but not a spontaneous mutation, causes a small cerebellum with abnormalities of the molecular layer and abnormal Purkinje cellaxon morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,030,383 (GRCm39) |
D165G |
probably benign |
Het |
| Abca8a |
A |
C |
11: 109,917,718 (GRCm39) |
F1574V |
probably damaging |
Het |
| Adh6a |
A |
T |
3: 138,034,857 (GRCm39) |
I329L |
probably benign |
Het |
| Agap2 |
T |
A |
10: 126,918,297 (GRCm39) |
|
probably benign |
Het |
| Ager |
A |
T |
17: 34,818,124 (GRCm39) |
I185F |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,263,675 (GRCm39) |
G173R |
probably damaging |
Het |
| Arhgef16 |
T |
A |
4: 154,369,490 (GRCm39) |
H329L |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,329,669 (GRCm39) |
Y175H |
probably damaging |
Het |
| Banp |
A |
G |
8: 122,702,662 (GRCm39) |
T70A |
probably benign |
Het |
| Bcl11b |
T |
C |
12: 107,881,910 (GRCm39) |
T802A |
possibly damaging |
Het |
| Ces2a |
A |
T |
8: 105,466,822 (GRCm39) |
I65F |
probably benign |
Het |
| Cflar |
G |
A |
1: 58,780,206 (GRCm39) |
|
probably null |
Het |
| Clec16a |
G |
A |
16: 10,462,650 (GRCm39) |
R656H |
probably damaging |
Het |
| Coasy |
A |
G |
11: 100,976,708 (GRCm39) |
T493A |
probably benign |
Het |
| Col16a1 |
C |
A |
4: 129,946,711 (GRCm39) |
H111Q |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,322,765 (GRCm39) |
W51R |
probably damaging |
Het |
| Cyp3a41b |
A |
T |
5: 145,514,976 (GRCm39) |
V83D |
probably benign |
Het |
| D2hgdh |
C |
T |
1: 93,763,157 (GRCm39) |
A314V |
probably damaging |
Het |
| Dcun1d4 |
T |
A |
5: 73,638,618 (GRCm39) |
|
probably benign |
Het |
| Decr2 |
C |
A |
17: 26,302,858 (GRCm39) |
V173L |
probably benign |
Het |
| Defb11 |
A |
G |
8: 22,395,444 (GRCm39) |
*78Q |
probably null |
Het |
| Dock3 |
C |
A |
9: 106,818,525 (GRCm39) |
V1190F |
probably damaging |
Het |
| Dusp1 |
A |
T |
17: 26,726,093 (GRCm39) |
I200N |
probably damaging |
Het |
| Efna1 |
G |
A |
3: 89,183,646 (GRCm39) |
A60V |
possibly damaging |
Het |
| Egfl8 |
C |
T |
17: 34,832,832 (GRCm39) |
V253M |
probably damaging |
Het |
| Epb41 |
T |
A |
4: 131,691,458 (GRCm39) |
N623I |
probably benign |
Het |
| Fbxw22 |
C |
T |
9: 109,213,062 (GRCm39) |
R295K |
probably benign |
Het |
| Foxn4 |
T |
C |
5: 114,393,662 (GRCm39) |
T486A |
probably damaging |
Het |
| Gbe1 |
C |
T |
16: 70,233,840 (GRCm39) |
A239V |
probably damaging |
Het |
| Gpatch3 |
C |
T |
4: 133,311,118 (GRCm39) |
A518V |
possibly damaging |
Het |
| Gpc6 |
A |
T |
14: 118,125,932 (GRCm39) |
|
probably null |
Het |
| Hdhd2 |
C |
T |
18: 77,052,866 (GRCm39) |
T172M |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 51,940,528 (GRCm39) |
D1444G |
possibly damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,450,299 (GRCm39) |
Y138H |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,905,873 (GRCm39) |
I352V |
possibly damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,440 (GRCm39) |
D52G |
possibly damaging |
Het |
| Klk1b21 |
T |
C |
7: 43,753,863 (GRCm39) |
I49T |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 26,868,932 (GRCm39) |
I2838F |
probably damaging |
Het |
| Lrrc43 |
A |
T |
5: 123,641,354 (GRCm39) |
T513S |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mamdc2 |
A |
T |
19: 23,281,267 (GRCm39) |
|
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,301,628 (GRCm39) |
S266P |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
T |
C |
15: 73,664,997 (GRCm39) |
N258D |
probably benign |
Het |
| Mrpl28 |
T |
C |
17: 26,345,285 (GRCm39) |
V235A |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,432,556 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
A |
G |
8: 111,455,362 (GRCm39) |
K92E |
possibly damaging |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,399,974 (GRCm39) |
L532* |
probably null |
Het |
| Or10ak16 |
A |
T |
4: 118,751,071 (GRCm39) |
R264W |
probably damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,309 (GRCm39) |
S239P |
probably damaging |
Het |
| Or51f1d |
G |
A |
7: 102,701,344 (GRCm39) |
V280I |
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,684,841 (GRCm39) |
M766T |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,759 (GRCm39) |
|
probably null |
Het |
| Plch2 |
T |
C |
4: 155,077,461 (GRCm39) |
E423G |
probably benign |
Het |
| Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
| Pxdn |
T |
A |
12: 30,055,774 (GRCm39) |
V1220E |
probably damaging |
Het |
| Robo1 |
T |
A |
16: 72,775,660 (GRCm39) |
F728L |
probably benign |
Het |
| Rtel1 |
G |
T |
2: 180,977,796 (GRCm39) |
Q292H |
probably benign |
Het |
| Sh3bp4 |
G |
A |
1: 89,073,314 (GRCm39) |
V721I |
possibly damaging |
Het |
| Slc2a10 |
T |
A |
2: 165,356,701 (GRCm39) |
C120* |
probably null |
Het |
| Srd5a2 |
T |
C |
17: 74,331,485 (GRCm39) |
R171G |
probably damaging |
Het |
| Srsf4 |
T |
C |
4: 131,624,993 (GRCm39) |
V130A |
probably damaging |
Het |
| Styk1 |
T |
C |
6: 131,289,539 (GRCm39) |
E25G |
probably benign |
Het |
| Taar8b |
T |
C |
10: 23,967,270 (GRCm39) |
N308S |
probably damaging |
Het |
| Tbc1d14 |
A |
G |
5: 36,700,561 (GRCm39) |
L269P |
possibly damaging |
Het |
| Tbx1 |
T |
C |
16: 18,400,744 (GRCm39) |
|
probably null |
Het |
| Tmem233 |
G |
C |
5: 116,189,517 (GRCm39) |
|
probably benign |
Het |
| Tmem252 |
T |
C |
19: 24,651,455 (GRCm39) |
I8T |
probably benign |
Het |
| Vcp |
G |
A |
4: 42,980,833 (GRCm39) |
A759V |
possibly damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,817 (GRCm39) |
I790T |
possibly damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,460,897 (GRCm39) |
V741A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,828,229 (GRCm39) |
V1461A |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,061,824 (GRCm39) |
V575E |
unknown |
Het |
| Zbp1 |
T |
A |
2: 173,060,616 (GRCm39) |
|
probably benign |
Het |
| Zfp280d |
C |
A |
9: 72,209,052 (GRCm39) |
|
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,142,277 (GRCm39) |
Y58C |
probably damaging |
Het |
|
| Other mutations in Cntn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Cntn1
|
APN |
15 |
92,148,758 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01109:Cntn1
|
APN |
15 |
92,237,458 (GRCm39) |
nonsense |
probably null |
|
|
IGL01399:Cntn1
|
APN |
15 |
92,203,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01714:Cntn1
|
APN |
15 |
92,151,870 (GRCm39) |
nonsense |
probably null |
|
|
IGL02052:Cntn1
|
APN |
15 |
92,189,584 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02342:Cntn1
|
APN |
15 |
92,143,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02507:Cntn1
|
APN |
15 |
92,148,860 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02511:Cntn1
|
APN |
15 |
92,114,266 (GRCm39) |
start gained |
probably benign |
|
|
IGL02702:Cntn1
|
APN |
15 |
92,189,482 (GRCm39) |
splice site |
probably benign |
|
|
IGL02927:Cntn1
|
APN |
15 |
92,189,561 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02948:Cntn1
|
APN |
15 |
92,143,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0035:Cntn1
|
UTSW |
15 |
92,129,969 (GRCm39) |
splice site |
probably benign |
|
|
R0084:Cntn1
|
UTSW |
15 |
92,215,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0346:Cntn1
|
UTSW |
15 |
92,129,968 (GRCm39) |
splice site |
probably benign |
|
|
R0634:Cntn1
|
UTSW |
15 |
92,212,444 (GRCm39) |
nonsense |
probably null |
|
|
R1348:Cntn1
|
UTSW |
15 |
92,212,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1613:Cntn1
|
UTSW |
15 |
92,143,871 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1793:Cntn1
|
UTSW |
15 |
92,189,552 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1815:Cntn1
|
UTSW |
15 |
92,148,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1851:Cntn1
|
UTSW |
15 |
92,203,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Cntn1
|
UTSW |
15 |
92,203,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Cntn1
|
UTSW |
15 |
92,215,943 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4394:Cntn1
|
UTSW |
15 |
92,189,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Cntn1
|
UTSW |
15 |
92,192,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Cntn1
|
UTSW |
15 |
92,202,972 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4944:Cntn1
|
UTSW |
15 |
92,126,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5044:Cntn1
|
UTSW |
15 |
92,140,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5218:Cntn1
|
UTSW |
15 |
92,237,430 (GRCm39) |
missense |
unknown |
|
|
R5314:Cntn1
|
UTSW |
15 |
92,192,892 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5445:Cntn1
|
UTSW |
15 |
92,192,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5518:Cntn1
|
UTSW |
15 |
92,212,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6849:Cntn1
|
UTSW |
15 |
92,203,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6885:Cntn1
|
UTSW |
15 |
92,140,980 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7035:Cntn1
|
UTSW |
15 |
92,212,392 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7070:Cntn1
|
UTSW |
15 |
92,151,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Cntn1
|
UTSW |
15 |
92,143,833 (GRCm39) |
splice site |
probably null |
|
|
R7311:Cntn1
|
UTSW |
15 |
92,130,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7401:Cntn1
|
UTSW |
15 |
92,215,870 (GRCm39) |
missense |
probably benign |
|
|
R7484:Cntn1
|
UTSW |
15 |
92,151,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7492:Cntn1
|
UTSW |
15 |
92,212,423 (GRCm39) |
missense |
probably benign |
|
|
R7617:Cntn1
|
UTSW |
15 |
92,143,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Cntn1
|
UTSW |
15 |
92,207,890 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7878:Cntn1
|
UTSW |
15 |
92,192,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Cntn1
|
UTSW |
15 |
92,130,130 (GRCm39) |
missense |
probably benign |
|
|
R8454:Cntn1
|
UTSW |
15 |
92,130,130 (GRCm39) |
missense |
probably benign |
|
|
R8465:Cntn1
|
UTSW |
15 |
92,237,404 (GRCm39) |
frame shift |
probably null |
|
|
R8757:Cntn1
|
UTSW |
15 |
92,153,801 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8759:Cntn1
|
UTSW |
15 |
92,153,801 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8767:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8885:Cntn1
|
UTSW |
15 |
92,159,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8972:Cntn1
|
UTSW |
15 |
92,150,278 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8993:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Cntn1
|
UTSW |
15 |
92,140,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9438:Cntn1
|
UTSW |
15 |
92,144,024 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9493:Cntn1
|
UTSW |
15 |
92,189,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cntn1
|
UTSW |
15 |
92,207,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAGGTAGATCCAGTTCACATC -3'
(R):5'- CCTTATGGAAATTTCAGGTTCTTGC -3'
Sequencing Primer
(F):5'- GGTAGATCCAGTTCACATCCTCAC -3'
(R):5'- AGGTTCTTGCACATACCAGC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation