Incidental Mutation 'R0636:Cntn6'
ID |
56674 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn6
|
Ensembl Gene |
ENSMUSG00000030092 |
Gene Name |
contactin 6 |
Synonyms |
NB-3 |
MMRRC Submission |
038825-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R0636 (G1)
|
Quality Score |
195 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
104469751-104840367 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104840109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 1003
(Q1003L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089215]
[ENSMUST00000161070]
[ENSMUST00000162872]
|
AlphaFold |
Q9JMB8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089215
AA Change: Q1003L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000086623 Gene: ENSMUSG00000030092 AA Change: Q1003L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IGc2
|
41 |
107 |
5.24e-7 |
SMART |
IG
|
129 |
217 |
2.28e-7 |
SMART |
IGc2
|
240 |
304 |
4e-12 |
SMART |
IGc2
|
330 |
393 |
4.52e-11 |
SMART |
IGc2
|
422 |
486 |
5.48e-10 |
SMART |
IGc2
|
512 |
584 |
1.44e-4 |
SMART |
FN3
|
598 |
684 |
2.17e-11 |
SMART |
FN3
|
701 |
787 |
8.62e0 |
SMART |
FN3
|
803 |
888 |
9.92e-6 |
SMART |
FN3
|
903 |
983 |
8.17e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161070
AA Change: Q931L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124714 Gene: ENSMUSG00000030092 AA Change: Q931L
Domain | Start | End | E-Value | Type |
SCOP:d1cs6a4
|
4 |
40 |
5e-4 |
SMART |
IG
|
57 |
145 |
2.28e-7 |
SMART |
IGc2
|
168 |
232 |
4e-12 |
SMART |
IGc2
|
258 |
321 |
4.52e-11 |
SMART |
IGc2
|
350 |
414 |
5.48e-10 |
SMART |
IGc2
|
440 |
512 |
1.44e-4 |
SMART |
FN3
|
526 |
612 |
2.17e-11 |
SMART |
FN3
|
629 |
715 |
8.62e0 |
SMART |
FN3
|
731 |
816 |
9.92e-6 |
SMART |
FN3
|
831 |
911 |
8.17e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162872
AA Change: Q1003L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124025 Gene: ENSMUSG00000030092 AA Change: Q1003L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IGc2
|
41 |
107 |
5.24e-7 |
SMART |
IG
|
129 |
217 |
2.28e-7 |
SMART |
IGc2
|
240 |
304 |
4e-12 |
SMART |
IGc2
|
330 |
393 |
4.52e-11 |
SMART |
IGc2
|
422 |
486 |
5.48e-10 |
SMART |
IGc2
|
512 |
584 |
1.44e-4 |
SMART |
FN3
|
598 |
684 |
2.17e-11 |
SMART |
FN3
|
701 |
787 |
8.62e0 |
SMART |
FN3
|
803 |
888 |
9.92e-6 |
SMART |
FN3
|
903 |
983 |
8.17e0 |
SMART |
|
Meta Mutation Damage Score |
0.0989 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.7%
|
Validation Efficiency |
96% (74/77) |
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] PHENOTYPE: Mice homozygous for disruption of this gene display impaired coordination without any obvious morphological of physiological abnormalities in the brain. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,088,414 (GRCm39) |
Y264C |
probably damaging |
Het |
8030423J24Rik |
T |
C |
13: 71,032,344 (GRCm39) |
F139L |
unknown |
Het |
Aco1 |
A |
G |
4: 40,175,697 (GRCm39) |
E146G |
probably damaging |
Het |
Adam2 |
T |
G |
14: 66,272,265 (GRCm39) |
D639A |
probably benign |
Het |
Adh4 |
G |
T |
3: 138,133,835 (GRCm39) |
R315L |
probably damaging |
Het |
Adprhl1 |
T |
C |
8: 13,298,702 (GRCm39) |
D76G |
probably damaging |
Het |
Akip1 |
T |
C |
7: 109,306,726 (GRCm39) |
|
probably benign |
Het |
Ap3d1 |
T |
A |
10: 80,555,216 (GRCm39) |
K370* |
probably null |
Het |
Arfgef1 |
C |
A |
1: 10,270,076 (GRCm39) |
V358L |
probably benign |
Het |
Arpp21 |
A |
T |
9: 112,012,566 (GRCm39) |
D85E |
probably benign |
Het |
Azi2 |
A |
T |
9: 117,891,125 (GRCm39) |
L383F |
probably benign |
Het |
Bpgm |
T |
A |
6: 34,481,222 (GRCm39) |
D206E |
probably benign |
Het |
Bsn |
T |
C |
9: 107,985,033 (GRCm39) |
D3007G |
unknown |
Het |
Ccdc142 |
T |
G |
6: 83,084,179 (GRCm39) |
|
probably benign |
Het |
Cep135 |
T |
C |
5: 76,763,504 (GRCm39) |
V498A |
probably benign |
Het |
Cntnap2 |
T |
A |
6: 47,273,642 (GRCm39) |
|
probably benign |
Het |
Csf2rb2 |
G |
A |
15: 78,176,160 (GRCm39) |
Q139* |
probably null |
Het |
Cyp3a16 |
A |
G |
5: 145,399,895 (GRCm39) |
V101A |
probably benign |
Het |
D630045J12Rik |
T |
C |
6: 38,173,713 (GRCm39) |
T152A |
probably benign |
Het |
Def8 |
G |
A |
8: 124,181,096 (GRCm39) |
W176* |
probably null |
Het |
Dgkg |
A |
G |
16: 22,398,479 (GRCm39) |
|
probably benign |
Het |
Ear10 |
T |
C |
14: 44,160,451 (GRCm39) |
|
probably null |
Het |
Fbxw2 |
A |
T |
2: 34,712,859 (GRCm39) |
Y67* |
probably null |
Het |
Flii |
T |
A |
11: 60,606,378 (GRCm39) |
Y1104F |
probably damaging |
Het |
Gm973 |
G |
A |
1: 59,590,303 (GRCm39) |
R270K |
probably benign |
Het |
Gnl3 |
T |
A |
14: 30,739,110 (GRCm39) |
K75N |
probably damaging |
Het |
Gpc6 |
A |
T |
14: 117,861,905 (GRCm39) |
M274L |
probably benign |
Het |
Ifi47 |
A |
G |
11: 48,987,478 (GRCm39) |
E415G |
possibly damaging |
Het |
Ift57 |
A |
G |
16: 49,532,259 (GRCm39) |
T130A |
probably benign |
Het |
Itpr2 |
T |
A |
6: 146,072,910 (GRCm39) |
D2373V |
probably damaging |
Het |
Kat6a |
T |
C |
8: 23,429,339 (GRCm39) |
S1565P |
possibly damaging |
Het |
Klhl6 |
A |
T |
16: 19,766,823 (GRCm39) |
|
probably benign |
Het |
Klra2 |
T |
C |
6: 131,197,067 (GRCm39) |
|
probably benign |
Het |
Lama5 |
A |
G |
2: 179,831,124 (GRCm39) |
|
probably null |
Het |
Mapk4 |
A |
G |
18: 74,063,525 (GRCm39) |
S566P |
probably benign |
Het |
Mindy4 |
C |
A |
6: 55,253,570 (GRCm39) |
R480S |
possibly damaging |
Het |
Mterf3 |
T |
C |
13: 67,070,817 (GRCm39) |
|
probably benign |
Het |
Mtmr2 |
A |
G |
9: 13,713,209 (GRCm39) |
|
probably null |
Het |
Myef2l |
T |
C |
3: 10,153,843 (GRCm39) |
L204P |
possibly damaging |
Het |
Naip5 |
T |
C |
13: 100,356,196 (GRCm39) |
T1140A |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,426,529 (GRCm39) |
T1648A |
probably damaging |
Het |
Nlk |
A |
T |
11: 78,586,670 (GRCm39) |
D141E |
probably benign |
Het |
Noxa1 |
C |
A |
2: 24,976,106 (GRCm39) |
|
probably benign |
Het |
Or4g16 |
A |
G |
2: 111,136,757 (GRCm39) |
N69S |
probably benign |
Het |
Or5b121 |
A |
T |
19: 13,507,613 (GRCm39) |
Y236F |
possibly damaging |
Het |
Or5p55 |
T |
C |
7: 107,566,679 (GRCm39) |
V25A |
probably benign |
Het |
Otog |
G |
A |
7: 45,913,652 (GRCm39) |
|
probably null |
Het |
Pebp4 |
T |
C |
14: 70,285,796 (GRCm39) |
|
probably benign |
Het |
Phgdh |
G |
T |
3: 98,240,607 (GRCm39) |
N100K |
possibly damaging |
Het |
Pnisr |
T |
A |
4: 21,873,800 (GRCm39) |
|
probably benign |
Het |
Ptpn6 |
T |
C |
6: 124,702,242 (GRCm39) |
H346R |
probably benign |
Het |
Rsf1 |
T |
C |
7: 97,311,226 (GRCm39) |
V652A |
possibly damaging |
Het |
Rubcn |
G |
A |
16: 32,649,056 (GRCm39) |
H624Y |
probably damaging |
Het |
Semp2l2a |
T |
C |
8: 13,887,870 (GRCm39) |
R74G |
probably benign |
Het |
Setdb2 |
T |
C |
14: 59,644,153 (GRCm39) |
N656D |
probably benign |
Het |
Slc22a23 |
T |
C |
13: 34,483,076 (GRCm39) |
T268A |
probably benign |
Het |
Slc3a1 |
A |
T |
17: 85,340,222 (GRCm39) |
T215S |
possibly damaging |
Het |
Srsf2 |
A |
G |
11: 116,742,904 (GRCm39) |
S206P |
probably benign |
Het |
Susd2 |
T |
A |
10: 75,475,184 (GRCm39) |
D542V |
probably damaging |
Het |
Svep1 |
G |
A |
4: 58,073,121 (GRCm39) |
Q2063* |
probably null |
Het |
Syne2 |
G |
A |
12: 75,977,757 (GRCm39) |
V1401M |
possibly damaging |
Het |
Tenm2 |
A |
G |
11: 36,834,803 (GRCm39) |
L64P |
probably damaging |
Het |
Tigd2 |
A |
G |
6: 59,188,272 (GRCm39) |
T380A |
possibly damaging |
Het |
Trmt12 |
G |
T |
15: 58,745,834 (GRCm39) |
V411F |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,163,613 (GRCm39) |
|
probably null |
Het |
Ush2a |
G |
A |
1: 188,554,935 (GRCm39) |
C3571Y |
probably benign |
Het |
Usp8 |
A |
G |
2: 126,562,030 (GRCm39) |
M75V |
possibly damaging |
Het |
Vcan |
C |
T |
13: 89,852,825 (GRCm39) |
D712N |
probably damaging |
Het |
Vcan |
C |
A |
13: 89,860,386 (GRCm39) |
R327L |
probably damaging |
Het |
Vps8 |
A |
G |
16: 21,253,683 (GRCm39) |
E8G |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,231,258 (GRCm39) |
D335G |
probably benign |
Het |
Zbtb39 |
A |
G |
10: 127,578,704 (GRCm39) |
N426S |
probably benign |
Het |
Zfp184 |
T |
A |
13: 22,133,919 (GRCm39) |
D55E |
probably damaging |
Het |
Zfp882 |
T |
C |
8: 72,668,181 (GRCm39) |
V336A |
probably benign |
Het |
|
Other mutations in Cntn6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00547:Cntn6
|
APN |
6 |
104,627,361 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01331:Cntn6
|
APN |
6 |
104,751,484 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01619:Cntn6
|
APN |
6 |
104,705,335 (GRCm39) |
splice site |
probably benign |
|
IGL02028:Cntn6
|
APN |
6 |
104,836,387 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02420:Cntn6
|
APN |
6 |
104,823,103 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02557:Cntn6
|
APN |
6 |
104,751,496 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03000:Cntn6
|
APN |
6 |
104,781,347 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03367:Cntn6
|
APN |
6 |
104,781,299 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03383:Cntn6
|
APN |
6 |
104,753,418 (GRCm39) |
splice site |
probably benign |
|
PIT4366001:Cntn6
|
UTSW |
6 |
104,809,498 (GRCm39) |
missense |
probably benign |
0.05 |
R0490:Cntn6
|
UTSW |
6 |
104,810,879 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0583:Cntn6
|
UTSW |
6 |
104,753,275 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0654:Cntn6
|
UTSW |
6 |
104,753,389 (GRCm39) |
missense |
probably benign |
0.00 |
R0960:Cntn6
|
UTSW |
6 |
104,751,441 (GRCm39) |
missense |
probably benign |
0.01 |
R1241:Cntn6
|
UTSW |
6 |
104,809,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R1385:Cntn6
|
UTSW |
6 |
104,838,861 (GRCm39) |
missense |
probably benign |
0.07 |
R1401:Cntn6
|
UTSW |
6 |
104,781,359 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1478:Cntn6
|
UTSW |
6 |
104,753,389 (GRCm39) |
missense |
probably benign |
0.00 |
R1542:Cntn6
|
UTSW |
6 |
104,825,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R1593:Cntn6
|
UTSW |
6 |
104,809,541 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1840:Cntn6
|
UTSW |
6 |
104,751,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R2066:Cntn6
|
UTSW |
6 |
104,838,783 (GRCm39) |
nonsense |
probably null |
|
R2097:Cntn6
|
UTSW |
6 |
104,838,910 (GRCm39) |
missense |
probably damaging |
0.99 |
R2289:Cntn6
|
UTSW |
6 |
104,545,989 (GRCm39) |
start gained |
probably benign |
|
R2429:Cntn6
|
UTSW |
6 |
104,627,526 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2967:Cntn6
|
UTSW |
6 |
104,703,198 (GRCm39) |
missense |
probably benign |
0.04 |
R4009:Cntn6
|
UTSW |
6 |
104,810,783 (GRCm39) |
missense |
probably damaging |
0.98 |
R4476:Cntn6
|
UTSW |
6 |
104,749,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Cntn6
|
UTSW |
6 |
104,705,245 (GRCm39) |
missense |
probably benign |
0.20 |
R4666:Cntn6
|
UTSW |
6 |
104,705,245 (GRCm39) |
missense |
probably benign |
0.20 |
R4701:Cntn6
|
UTSW |
6 |
104,781,321 (GRCm39) |
missense |
probably benign |
0.01 |
R4780:Cntn6
|
UTSW |
6 |
104,822,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R4854:Cntn6
|
UTSW |
6 |
104,836,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4965:Cntn6
|
UTSW |
6 |
104,751,435 (GRCm39) |
missense |
probably damaging |
0.99 |
R5051:Cntn6
|
UTSW |
6 |
104,749,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R5075:Cntn6
|
UTSW |
6 |
104,809,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R5152:Cntn6
|
UTSW |
6 |
104,546,074 (GRCm39) |
intron |
probably benign |
|
R5291:Cntn6
|
UTSW |
6 |
104,703,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R5388:Cntn6
|
UTSW |
6 |
104,809,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R5852:Cntn6
|
UTSW |
6 |
104,812,706 (GRCm39) |
missense |
probably damaging |
0.97 |
R5937:Cntn6
|
UTSW |
6 |
104,810,064 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5980:Cntn6
|
UTSW |
6 |
104,825,093 (GRCm39) |
missense |
probably damaging |
0.98 |
R6290:Cntn6
|
UTSW |
6 |
104,744,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R6338:Cntn6
|
UTSW |
6 |
104,703,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R6396:Cntn6
|
UTSW |
6 |
104,627,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R6447:Cntn6
|
UTSW |
6 |
104,836,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R6860:Cntn6
|
UTSW |
6 |
104,838,907 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6871:Cntn6
|
UTSW |
6 |
104,822,719 (GRCm39) |
frame shift |
probably null |
|
R7012:Cntn6
|
UTSW |
6 |
104,751,441 (GRCm39) |
missense |
probably benign |
0.01 |
R7012:Cntn6
|
UTSW |
6 |
104,703,223 (GRCm39) |
missense |
probably damaging |
0.98 |
R7337:Cntn6
|
UTSW |
6 |
104,627,491 (GRCm39) |
missense |
probably damaging |
0.99 |
R7658:Cntn6
|
UTSW |
6 |
104,627,444 (GRCm39) |
missense |
probably benign |
0.29 |
R8133:Cntn6
|
UTSW |
6 |
104,705,298 (GRCm39) |
missense |
probably benign |
0.19 |
R8463:Cntn6
|
UTSW |
6 |
104,749,580 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8909:Cntn6
|
UTSW |
6 |
104,825,093 (GRCm39) |
missense |
probably benign |
0.05 |
R9232:Cntn6
|
UTSW |
6 |
104,815,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R9287:Cntn6
|
UTSW |
6 |
104,809,471 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9454:Cntn6
|
UTSW |
6 |
104,781,308 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9698:Cntn6
|
UTSW |
6 |
104,810,044 (GRCm39) |
nonsense |
probably null |
|
X0020:Cntn6
|
UTSW |
6 |
104,744,845 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Cntn6
|
UTSW |
6 |
104,809,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTAGTCCTCACCAATTTGGGCAC -3'
(R):5'- AGACACAGCAGTTTTATGTCCTCCG -3'
Sequencing Primer
(F):5'- TGAGGTGGCATCTTATAATAGGAG -3'
(R):5'- GGCACCCTCAAATGTGTAATG -3'
|
Posted On |
2013-07-11 |