Incidental Mutation 'R9493:Cntn1'
| ID |
717077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn1
|
| Ensembl Gene |
ENSMUSG00000055022 |
| Gene Name |
contactin 1 |
| Synonyms |
F3cam, usl, CNTN |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9493 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
91949034-92239834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92189644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 656
(T656S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000109]
[ENSMUST00000068378]
[ENSMUST00000169825]
|
| AlphaFold |
P12960 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000109
AA Change: T656S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000109
Gene: ENSMUSG00000055022
AA Change: T656S
| 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 damaging
Transcript: ENSMUST00000068378
AA Change: T656S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067842
Gene: ENSMUSG00000055022
AA Change: T656S
| 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 damaging
Transcript: ENSMUST00000169825
AA Change: T656S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133063
Gene: ENSMUSG00000055022
AA Change: T656S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,838,191 (GRCm39) |
Y799H |
probably damaging |
Het |
| Akap5 |
G |
A |
12: 76,375,041 (GRCm39) |
A158T |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,286,434 (GRCm39) |
K689E |
probably benign |
Het |
| Arid1b |
G |
A |
17: 5,046,423 (GRCm39) |
A404T |
unknown |
Het |
| Bltp1 |
A |
G |
3: 37,065,885 (GRCm39) |
N53S |
|
Het |
| Camk2b |
T |
A |
11: 5,929,711 (GRCm39) |
D396V |
probably damaging |
Het |
| Cd53 |
T |
A |
3: 106,674,683 (GRCm39) |
D128V |
probably null |
Het |
| Cdk15 |
G |
T |
1: 59,326,943 (GRCm39) |
R208L |
probably damaging |
Het |
| Celsr1 |
T |
G |
15: 85,785,346 (GRCm39) |
K2963Q |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,301,074 (GRCm39) |
S2740P |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,632,964 (GRCm39) |
L162H |
probably damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Dpy19l2 |
A |
G |
9: 24,530,459 (GRCm39) |
Y507H |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,122,752 (GRCm39) |
C57* |
probably null |
Het |
| Gramd1b |
A |
G |
9: 40,217,689 (GRCm39) |
Y621H |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,556,522 (GRCm39) |
C739S |
probably benign |
Het |
| Il1rap |
T |
C |
16: 26,541,702 (GRCm39) |
S648P |
probably benign |
Het |
| Ints5 |
C |
T |
19: 8,872,686 (GRCm39) |
T215I |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,834,255 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
T |
A |
14: 102,137,907 (GRCm39) |
S870T |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,015,548 (GRCm39) |
F1288I |
probably damaging |
Het |
| Megf11 |
A |
T |
9: 64,547,376 (GRCm39) |
H209L |
probably damaging |
Het |
| Mtss1 |
C |
T |
15: 58,926,869 (GRCm39) |
R69H |
probably damaging |
Het |
| Nms |
A |
T |
1: 38,980,982 (GRCm39) |
H56L |
probably benign |
Het |
| Or4f54 |
G |
A |
2: 111,122,736 (GRCm39) |
G41D |
probably damaging |
Het |
| Or4k36 |
C |
T |
2: 111,146,288 (GRCm39) |
H155Y |
probably damaging |
Het |
| Or56a5 |
A |
T |
7: 104,793,497 (GRCm39) |
M7K |
possibly damaging |
Het |
| Or5t17 |
T |
C |
2: 86,833,140 (GRCm39) |
S276P |
probably benign |
Het |
| Pds5a |
G |
A |
5: 65,792,747 (GRCm39) |
R729W |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,639,598 (GRCm39) |
R93* |
probably null |
Het |
| Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
| Rtn4 |
G |
A |
11: 29,691,011 (GRCm39) |
V1101I |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,509,021 (GRCm39) |
V653F |
probably damaging |
Het |
| Slc10a2 |
A |
G |
8: 5,139,047 (GRCm39) |
V299A |
|
Het |
| Slc6a15 |
A |
G |
10: 103,229,277 (GRCm39) |
I105M |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,833,395 (GRCm39) |
V209A |
|
Het |
| Snapc2 |
A |
G |
8: 4,304,591 (GRCm39) |
E115G |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,199,529 (GRCm39) |
E592G |
possibly damaging |
Het |
| Spmip6 |
G |
A |
4: 41,508,614 (GRCm39) |
P17L |
|
Het |
| Styxl2 |
T |
A |
1: 165,926,410 (GRCm39) |
K1067N |
probably damaging |
Het |
| Tcl1b1 |
A |
T |
12: 105,130,823 (GRCm39) |
Q102L |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,801,644 (GRCm39) |
N461Y |
probably benign |
Het |
| Trim59 |
C |
A |
3: 68,945,134 (GRCm39) |
G69C |
probably damaging |
Het |
| Tubg1 |
A |
G |
11: 101,017,003 (GRCm39) |
Y435C |
probably damaging |
Het |
| Ucp3 |
A |
C |
7: 100,131,911 (GRCm39) |
H254P |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,157,276 (GRCm39) |
D842G |
probably damaging |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,423 (GRCm39) |
L68H |
probably damaging |
Het |
| Wee2 |
A |
G |
6: 40,421,057 (GRCm39) |
E49G |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,180,706 (GRCm39) |
|
probably null |
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 |
|
R2269:Cntn1
|
UTSW |
15 |
92,192,863 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
Z1177:Cntn1
|
UTSW |
15 |
92,207,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGACATTGTTTGGCATCGC -3'
(R):5'- AAGAGACCGTCGATTTGAGC -3'
Sequencing Primer
(F):5'- TGTTTAATTCACCAGCTGAAAGACCC -3'
(R):5'- ACCGTCGATTTGAGCAAATG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation