Incidental Mutation 'R0634:Cntn1'
| ID |
58176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn1
|
| Ensembl Gene |
ENSMUSG00000055022 |
| Gene Name |
contactin 1 |
| Synonyms |
F3cam, usl, CNTN |
| MMRRC Submission |
038823-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0634 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91949034-92239834 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 92212444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 869
(R869*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000109]
[ENSMUST00000068378]
[ENSMUST00000169825]
|
| AlphaFold |
P12960 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000109
AA Change: R869*
|
| SMART Domains |
Protein: ENSMUSP00000000109
Gene: ENSMUSG00000055022
AA Change: R869*
| 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 null
Transcript: ENSMUST00000068378
AA Change: R869*
|
| SMART Domains |
Protein: ENSMUSP00000067842
Gene: ENSMUSG00000055022
AA Change: R869*
| 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 null
Transcript: ENSMUST00000169825
AA Change: R869*
|
| SMART Domains |
Protein: ENSMUSP00000133063
Gene: ENSMUSG00000055022
AA Change: R869*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
| Validation Efficiency |
98% (62/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,264,491 (GRCm39) |
I2958V |
possibly damaging |
Het |
| Adam21 |
C |
A |
12: 81,607,126 (GRCm39) |
W212L |
probably benign |
Het |
| Adcy2 |
A |
C |
13: 68,876,064 (GRCm39) |
H479Q |
possibly damaging |
Het |
| Adcy4 |
T |
C |
14: 56,019,054 (GRCm39) |
R168G |
probably benign |
Het |
| Adrm1b |
C |
T |
3: 92,336,116 (GRCm39) |
W125* |
probably null |
Het |
| Atp13a2 |
T |
C |
4: 140,734,240 (GRCm39) |
|
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,464 (GRCm39) |
E304K |
possibly damaging |
Het |
| Cc2d2a |
A |
C |
5: 43,838,723 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,952,588 (GRCm39) |
L1426P |
probably damaging |
Het |
| Creb3l2 |
A |
T |
6: 37,311,283 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
G |
A |
4: 133,802,615 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,276,405 (GRCm39) |
F800I |
probably damaging |
Het |
| Dock6 |
G |
A |
9: 21,752,823 (GRCm39) |
T330I |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,517,200 (GRCm39) |
E311K |
possibly damaging |
Het |
| Fbxo22 |
A |
T |
9: 55,122,244 (GRCm39) |
Q141L |
probably benign |
Het |
| Fer |
C |
T |
17: 64,342,503 (GRCm39) |
T223M |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,256,649 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
G |
A |
5: 31,317,150 (GRCm39) |
R684* |
probably null |
Het |
| Hs6st3 |
T |
A |
14: 120,106,474 (GRCm39) |
L294* |
probably null |
Het |
| Ighg2c |
T |
G |
12: 113,251,584 (GRCm39) |
E181A |
unknown |
Het |
| Igkv6-15 |
A |
T |
6: 70,383,763 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
A |
T |
6: 145,120,354 (GRCm39) |
H523L |
probably damaging |
Het |
| Map2k6 |
C |
T |
11: 110,385,169 (GRCm39) |
R178* |
probably null |
Het |
| Meikin |
T |
A |
11: 54,281,309 (GRCm39) |
D126E |
probably benign |
Het |
| Mgst1 |
A |
T |
6: 138,133,329 (GRCm39) |
T37S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,238,518 (GRCm39) |
V1222M |
probably benign |
Het |
| Myom2 |
C |
A |
8: 15,169,216 (GRCm39) |
|
probably benign |
Het |
| Negr1 |
A |
G |
3: 156,721,903 (GRCm39) |
K159R |
possibly damaging |
Het |
| Nptx1 |
T |
C |
11: 119,434,127 (GRCm39) |
T320A |
possibly damaging |
Het |
| Or12j3 |
A |
T |
7: 139,953,310 (GRCm39) |
V71E |
possibly damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,961 (GRCm39) |
M107K |
probably benign |
Het |
| Or5p66 |
T |
C |
7: 107,885,503 (GRCm39) |
I277V |
probably benign |
Het |
| Pes1 |
C |
T |
11: 3,927,794 (GRCm39) |
|
probably benign |
Het |
| Pes1 |
T |
G |
11: 3,927,795 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,187,698 (GRCm39) |
Y3537N |
probably damaging |
Het |
| Poteg |
G |
A |
8: 27,963,615 (GRCm39) |
G289R |
probably benign |
Het |
| Pramel29 |
A |
G |
4: 143,935,910 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,172,693 (GRCm39) |
R59G |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,223,867 (GRCm39) |
W961R |
probably damaging |
Het |
| Rhot2 |
G |
A |
17: 26,061,002 (GRCm39) |
H168Y |
possibly damaging |
Het |
| Ripk3 |
G |
T |
14: 56,025,848 (GRCm39) |
|
probably benign |
Het |
| Samm50 |
A |
G |
15: 84,098,372 (GRCm39) |
|
silent |
Het |
| Sap30bp |
T |
C |
11: 115,848,229 (GRCm39) |
I117T |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,149,363 (GRCm39) |
L1632* |
probably null |
Het |
| Sirt7 |
T |
C |
11: 120,512,955 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,976,934 (GRCm39) |
T216A |
possibly damaging |
Het |
| Sox9 |
A |
G |
11: 112,675,768 (GRCm39) |
Y319C |
probably damaging |
Het |
| Sspn |
G |
A |
6: 145,906,877 (GRCm39) |
A27T |
possibly damaging |
Het |
| Suco |
A |
G |
1: 161,666,373 (GRCm39) |
V509A |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,661 (GRCm39) |
C2375Y |
possibly damaging |
Het |
| Trbv21 |
T |
A |
6: 41,179,984 (GRCm39) |
|
probably benign |
Het |
| Uimc1 |
C |
T |
13: 55,208,079 (GRCm39) |
E455K |
possibly damaging |
Het |
| Upk3b |
A |
G |
5: 136,068,930 (GRCm39) |
T100A |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,707,862 (GRCm39) |
N1303D |
probably damaging |
Het |
| Vav1 |
A |
T |
17: 57,610,862 (GRCm39) |
D476V |
probably benign |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,162 (GRCm39) |
V312A |
probably benign |
Het |
| Wdr62 |
A |
G |
7: 29,969,599 (GRCm39) |
V287A |
probably damaging |
Het |
| Zcchc4 |
C |
T |
5: 52,940,550 (GRCm39) |
P40S |
probably benign |
Het |
| Zfp326 |
T |
A |
5: 106,034,069 (GRCm39) |
Y26* |
probably null |
Het |
| Zfp592 |
A |
G |
7: 80,687,819 (GRCm39) |
H915R |
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 |
|
|
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 |
|
|
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'- TGGACTGAAATCCGTGGCAATGAAC -3'
(R):5'- GCTGGGAATGATGAAAACCCCTCC -3'
Sequencing Primer
(F):5'- TCGCCTTGGATGTTTGCAGA -3'
(R):5'- CCCTCCGATTCTATTAAAGATGTGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation