Incidental Mutation 'R1613:Cntn1'
| ID |
176958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn1
|
| Ensembl Gene |
ENSMUSG00000055022 |
| Gene Name |
contactin 1 |
| Synonyms |
F3cam, usl, CNTN |
| MMRRC Submission |
039650-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1613 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91949034-92239834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92143871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 278
(V278E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000109]
[ENSMUST00000068378]
[ENSMUST00000169825]
|
| AlphaFold |
P12960 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000109
AA Change: V278E
PolyPhen 2
Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000000109
Gene: ENSMUSG00000055022
AA Change: V278E
| 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 |
possibly damaging
Transcript: ENSMUST00000068378
AA Change: V278E
PolyPhen 2
Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000067842
Gene: ENSMUSG00000055022
AA Change: V278E
| 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 |
noncoding transcript
Transcript: ENSMUST00000141187
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169825
AA Change: V278E
PolyPhen 2
Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133063
Gene: ENSMUSG00000055022
AA Change: V278E
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
82% (69/84) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Aldh3a1 |
A |
T |
11: 61,105,377 (GRCm39) |
D161V |
probably damaging |
Het |
| Aloxe3 |
A |
G |
11: 69,020,872 (GRCm39) |
D199G |
possibly damaging |
Het |
| Amfr |
T |
A |
8: 94,725,854 (GRCm39) |
M176L |
probably benign |
Het |
| Amigo1 |
A |
T |
3: 108,095,536 (GRCm39) |
E345V |
probably benign |
Het |
| Atp13a3 |
T |
C |
16: 30,151,118 (GRCm39) |
Y1064C |
probably damaging |
Het |
| Brd7 |
A |
T |
8: 89,073,578 (GRCm39) |
C271S |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,470,222 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,499,522 (GRCm39) |
I887F |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,547,973 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
A |
C |
9: 105,609,410 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
C |
T |
1: 10,203,466 (GRCm39) |
R1016C |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,527,455 (GRCm39) |
Y267C |
probably damaging |
Het |
| Cyp2c67 |
C |
T |
19: 39,614,643 (GRCm39) |
V295I |
probably benign |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,640 (GRCm39) |
T122A |
unknown |
Het |
| Dennd10 |
T |
A |
19: 60,810,763 (GRCm39) |
V171D |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,289,311 (GRCm39) |
I2541T |
probably benign |
Het |
| Eif3e |
G |
A |
15: 43,113,620 (GRCm39) |
A438V |
possibly damaging |
Het |
| Fam178b |
C |
A |
1: 36,639,273 (GRCm39) |
W342L |
probably benign |
Het |
| Fam78a |
G |
T |
2: 31,959,581 (GRCm39) |
N176K |
probably damaging |
Het |
| Ghrhr |
A |
T |
6: 55,356,682 (GRCm39) |
K93M |
probably damaging |
Het |
| Gm1527 |
T |
A |
3: 28,953,002 (GRCm39) |
|
probably null |
Het |
| Gm1553 |
G |
A |
10: 82,328,430 (GRCm39) |
|
probably benign |
Het |
| Gm5885 |
G |
A |
6: 133,508,205 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
G |
A |
13: 50,056,474 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxc6 |
C |
T |
15: 102,918,017 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,223,348 (GRCm39) |
T1189A |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,418,205 (GRCm39) |
E55G |
probably damaging |
Het |
| Kcnh2 |
G |
A |
5: 24,527,760 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,114,918 (GRCm39) |
G2356S |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,589 (GRCm39) |
|
probably null |
Het |
| Me3 |
T |
C |
7: 89,435,628 (GRCm39) |
|
probably benign |
Het |
| Mmadhc |
T |
C |
2: 50,170,338 (GRCm39) |
D258G |
probably damaging |
Het |
| Nfe2 |
T |
C |
15: 103,157,556 (GRCm39) |
D145G |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,519,105 (GRCm39) |
K169R |
probably damaging |
Het |
| Or10j3b |
C |
T |
1: 173,043,434 (GRCm39) |
T72I |
probably benign |
Het |
| Or1ad1 |
T |
A |
11: 50,876,045 (GRCm39) |
N172K |
probably damaging |
Het |
| Or1j20 |
A |
C |
2: 36,760,405 (GRCm39) |
I276L |
possibly damaging |
Het |
| Or2y1e |
A |
G |
11: 49,218,520 (GRCm39) |
Y94C |
probably damaging |
Het |
| Or4a67 |
T |
C |
2: 88,598,149 (GRCm39) |
N170S |
probably damaging |
Het |
| Or4k1 |
A |
C |
14: 50,377,751 (GRCm39) |
L115R |
probably damaging |
Het |
| Or5al5 |
A |
T |
2: 85,961,407 (GRCm39) |
L200Q |
probably damaging |
Het |
| P4ha3 |
A |
T |
7: 99,962,457 (GRCm39) |
D405V |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,153 (GRCm39) |
D448G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,729,146 (GRCm39) |
|
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,560,059 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
T |
C |
7: 141,020,690 (GRCm39) |
E469G |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,684,737 (GRCm39) |
D875G |
possibly damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,050,740 (GRCm39) |
L886P |
probably damaging |
Het |
| Scrib |
G |
A |
15: 75,920,391 (GRCm39) |
R1454C |
probably damaging |
Het |
| Slc24a1 |
A |
G |
9: 64,855,978 (GRCm39) |
S310P |
unknown |
Het |
| Slc44a5 |
A |
G |
3: 153,963,351 (GRCm39) |
|
probably null |
Het |
| Snx4 |
T |
G |
16: 33,106,416 (GRCm39) |
M283R |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,623,222 (GRCm39) |
|
probably benign |
Het |
| Stk19 |
A |
T |
17: 35,043,574 (GRCm39) |
L212H |
probably damaging |
Het |
| Sult2a4 |
T |
C |
7: 13,723,420 (GRCm39) |
K32E |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,442,193 (GRCm39) |
Y473N |
probably damaging |
Het |
| Tlr2 |
C |
G |
3: 83,744,660 (GRCm39) |
L474F |
probably damaging |
Het |
| Tnfrsf4 |
T |
A |
4: 156,100,619 (GRCm39) |
F213I |
probably benign |
Het |
| Trim9 |
A |
T |
12: 70,295,169 (GRCm39) |
I651N |
probably damaging |
Het |
| Vmn1r84 |
T |
A |
7: 12,096,460 (GRCm39) |
I78L |
possibly damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,460,356 (GRCm39) |
Y561H |
probably damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,901 (GRCm39) |
|
probably benign |
Het |
| Zfp11 |
T |
C |
5: 129,735,431 (GRCm39) |
N10S |
probably benign |
Het |
| Zfp81 |
A |
T |
17: 33,553,757 (GRCm39) |
H352Q |
probably damaging |
Het |
| Zscan5b |
T |
A |
7: 6,233,374 (GRCm39) |
L66Q |
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 |
|
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'- CACCATGATGGGCCAAAATGTGAC -3'
(R):5'- ACGGGAAAGCCTTTGACTAAGACG -3'
Sequencing Primer
(F):5'- TGATGGGCCAAAATGTGACTTTAG -3'
(R):5'- AGACGTTGATGGTTCTCATACAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation