Incidental Mutation 'R8997:Cntn1'
| ID |
684790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn1
|
| Ensembl Gene |
ENSMUSG00000055022 |
| Gene Name |
contactin 1 |
| Synonyms |
F3cam, usl, CNTN |
| MMRRC Submission |
068828-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8997 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91949034-92239834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 92132347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 148
(V148M)
|
| 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: V148M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000109
Gene: ENSMUSG00000055022
AA Change: V148M
| 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: V148M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067842
Gene: ENSMUSG00000055022
AA Change: V148M
| 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: V148M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133063
Gene: ENSMUSG00000055022
AA Change: V148M
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.1%
|
| Validation Efficiency |
98% (52/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
T |
1: 11,615,491 (GRCm39) |
E155* |
probably null |
Het |
| Abhd17a |
T |
C |
10: 80,422,470 (GRCm39) |
T71A |
probably benign |
Het |
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Adra2a |
T |
C |
19: 54,035,729 (GRCm39) |
S362P |
probably benign |
Het |
| Arid1a |
T |
A |
4: 133,421,343 (GRCm39) |
N436Y |
unknown |
Het |
| Cma2 |
T |
A |
14: 56,210,201 (GRCm39) |
C85S |
probably benign |
Het |
| Cntn3 |
A |
G |
6: 102,181,023 (GRCm39) |
V724A |
probably damaging |
Het |
| Dennd1a |
C |
T |
2: 37,690,497 (GRCm39) |
G868R |
probably benign |
Het |
| Disp2 |
C |
T |
2: 118,617,467 (GRCm39) |
P154S |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,823,528 (GRCm39) |
D171G |
possibly damaging |
Het |
| Dpp4 |
A |
C |
2: 62,164,958 (GRCm39) |
I697S |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,129,003 (GRCm39) |
D1837E |
probably benign |
Het |
| Fbxo39 |
T |
A |
11: 72,208,466 (GRCm39) |
S273T |
probably damaging |
Het |
| Fgf5 |
A |
T |
5: 98,423,411 (GRCm39) |
*265C |
probably null |
Het |
| Fscb |
A |
G |
12: 64,520,758 (GRCm39) |
V236A |
possibly damaging |
Het |
| Greb1l |
A |
T |
18: 10,510,747 (GRCm39) |
T614S |
probably damaging |
Het |
| Gtdc1 |
A |
T |
2: 44,715,386 (GRCm39) |
N52K |
probably benign |
Het |
| Il6ra |
T |
C |
3: 89,794,418 (GRCm39) |
D181G |
probably damaging |
Het |
| Inhba |
T |
G |
13: 16,201,107 (GRCm39) |
V223G |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,513,037 (GRCm39) |
|
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,018,236 (GRCm39) |
W1068L |
probably null |
Het |
| Mdn1 |
T |
C |
4: 32,773,275 (GRCm39) |
L5485P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,518,763 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,959,577 (GRCm39) |
F338L |
probably damaging |
Het |
| Negr1 |
T |
A |
3: 156,721,918 (GRCm39) |
I164N |
probably damaging |
Het |
| Nek9 |
A |
T |
12: 85,367,565 (GRCm39) |
C369S |
probably benign |
Het |
| Ninl |
C |
T |
2: 150,801,816 (GRCm39) |
E151K |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,595,982 (GRCm39) |
S494R |
possibly damaging |
Het |
| Nphp4 |
G |
A |
4: 152,623,345 (GRCm39) |
R673H |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,934,629 (GRCm39) |
|
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,091,575 (GRCm39) |
S82P |
probably benign |
Het |
| Pcdhgb1 |
C |
A |
18: 37,814,133 (GRCm39) |
P208Q |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,018,517 (GRCm39) |
E988G |
possibly damaging |
Het |
| Rfc1 |
A |
T |
5: 65,433,064 (GRCm39) |
M722K |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,383,545 (GRCm39) |
N129K |
probably damaging |
Het |
| Sdccag8 |
C |
A |
1: 176,783,374 (GRCm39) |
L628I |
probably damaging |
Het |
| Sgcz |
G |
T |
8: 39,127,894 (GRCm39) |
D8E |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,790,781 (GRCm39) |
F254L |
|
Het |
| Shf |
A |
G |
2: 122,187,728 (GRCm39) |
L26P |
probably damaging |
Het |
| Slc39a5 |
G |
A |
10: 128,232,348 (GRCm39) |
A484V |
probably damaging |
Het |
| Slco4c1 |
T |
A |
1: 96,795,672 (GRCm39) |
I129F |
probably damaging |
Het |
| Tbck |
A |
T |
3: 132,440,106 (GRCm39) |
|
probably null |
Het |
| Tcstv7b |
A |
T |
13: 120,702,515 (GRCm39) |
M104L |
probably benign |
Het |
| Teddm3 |
A |
T |
16: 20,971,687 (GRCm39) |
V294E |
probably damaging |
Het |
| Tent4b |
T |
A |
8: 88,979,023 (GRCm39) |
V508D |
probably benign |
Het |
| Treml1 |
A |
T |
17: 48,667,466 (GRCm39) |
H117L |
probably damaging |
Het |
| Trip12 |
G |
T |
1: 84,771,596 (GRCm39) |
T184N |
probably benign |
Het |
| Tuba3b |
G |
T |
6: 145,566,954 (GRCm39) |
M398I |
possibly damaging |
Het |
| Vcam1 |
T |
C |
3: 115,910,977 (GRCm39) |
I474V |
probably benign |
Het |
| Wdsub1 |
A |
C |
2: 59,688,977 (GRCm39) |
M415R |
probably damaging |
Het |
| Zfp14 |
A |
T |
7: 29,737,600 (GRCm39) |
F462I |
probably damaging |
Het |
| Zfp846 |
G |
A |
9: 20,505,726 (GRCm39) |
V529I |
probably benign |
Het |
| Zfp873 |
A |
G |
10: 81,896,990 (GRCm39) |
T574A |
probably benign |
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 |
|
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'- TTATCCAAACGGGGTCCTTTCC -3'
(R):5'- CGTTAATGATGGACCATGACTG -3'
Sequencing Primer
(F):5'- AGTGTCTGATCTGCCAACAG -3'
(R):5'- GGACCATGACTGTTAAATGAATTGAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation