Incidental Mutation 'R5152:Cntn6'
ID |
395441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn6
|
Ensembl Gene |
ENSMUSG00000030092 |
Gene Name |
contactin 6 |
Synonyms |
NB-3 |
MMRRC Submission |
042734-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R5152 (G1)
|
Quality Score |
192 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
104469751-104840367 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 104546074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089215]
[ENSMUST00000161070]
[ENSMUST00000161446]
[ENSMUST00000162872]
|
AlphaFold |
Q9JMB8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089215
|
SMART Domains |
Protein: ENSMUSP00000086623 Gene: ENSMUSG00000030092
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
|
SMART Domains |
Protein: ENSMUSP00000124714 Gene: ENSMUSG00000030092
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 |
noncoding transcript
Transcript: ENSMUST00000161413
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161446
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162872
|
SMART Domains |
Protein: ENSMUSP00000124025 Gene: ENSMUSG00000030092
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
99% (83/84) |
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. 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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,139,846 (GRCm39) |
S1503P |
probably benign |
Het |
Actn3 |
C |
A |
19: 4,913,572 (GRCm39) |
V620F |
probably damaging |
Het |
Adamtsl3 |
A |
G |
7: 82,223,752 (GRCm39) |
K252E |
probably benign |
Het |
Adgrg1 |
A |
G |
8: 95,736,373 (GRCm39) |
Y509C |
probably damaging |
Het |
Arhgef2 |
G |
A |
3: 88,536,875 (GRCm39) |
|
probably null |
Het |
Bod1l |
T |
C |
5: 41,973,886 (GRCm39) |
E2476G |
probably benign |
Het |
Capn3 |
T |
C |
2: 120,331,811 (GRCm39) |
|
probably benign |
Het |
Catsperz |
T |
C |
19: 6,900,705 (GRCm39) |
T147A |
probably benign |
Het |
Cc2d1b |
C |
A |
4: 108,483,283 (GRCm39) |
A289E |
probably benign |
Het |
Ccdc170 |
A |
C |
10: 4,511,107 (GRCm39) |
H722P |
probably damaging |
Het |
Cdk13 |
C |
A |
13: 17,893,110 (GRCm39) |
A1358S |
probably benign |
Het |
Coch |
A |
G |
12: 51,642,225 (GRCm39) |
N66D |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,564,030 (GRCm39) |
S1732P |
probably damaging |
Het |
Copa |
T |
A |
1: 171,945,628 (GRCm39) |
V917E |
probably benign |
Het |
Csmd2 |
C |
A |
4: 128,445,828 (GRCm39) |
N3299K |
probably benign |
Het |
Cyp2c67 |
A |
T |
19: 39,627,132 (GRCm39) |
F233I |
probably benign |
Het |
D630039A03Rik |
T |
A |
4: 57,910,434 (GRCm39) |
H126L |
probably damaging |
Het |
Ddx46 |
T |
C |
13: 55,806,843 (GRCm39) |
L492P |
probably damaging |
Het |
Dpysl3 |
C |
T |
18: 43,571,145 (GRCm39) |
G43D |
probably benign |
Het |
Enpp5 |
C |
T |
17: 44,392,024 (GRCm39) |
P151L |
probably damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,397,327 (GRCm39) |
|
probably benign |
Het |
Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
Flg2 |
C |
A |
3: 93,122,284 (GRCm39) |
P1485T |
unknown |
Het |
Fmo5 |
A |
G |
3: 97,549,078 (GRCm39) |
Y242C |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,808,916 (GRCm39) |
T1745N |
probably benign |
Het |
Gata4 |
T |
A |
14: 63,478,570 (GRCm39) |
N10Y |
probably damaging |
Het |
Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
Gm4787 |
A |
C |
12: 81,425,451 (GRCm39) |
S236A |
probably benign |
Het |
Golga7 |
A |
C |
8: 23,735,965 (GRCm39) |
S94A |
probably benign |
Het |
Gpbp1 |
A |
G |
13: 111,589,815 (GRCm39) |
|
probably benign |
Het |
Grm1 |
A |
G |
10: 10,955,619 (GRCm39) |
Y222H |
probably benign |
Het |
Gstcd |
A |
G |
3: 132,790,717 (GRCm39) |
Y17H |
possibly damaging |
Het |
Hephl1 |
C |
A |
9: 14,991,481 (GRCm39) |
D586Y |
probably damaging |
Het |
Hpn |
C |
A |
7: 30,799,261 (GRCm39) |
V35L |
probably damaging |
Het |
Il23r |
T |
A |
6: 67,400,725 (GRCm39) |
N535I |
probably damaging |
Het |
Inpp4a |
T |
C |
1: 37,397,616 (GRCm39) |
I45T |
possibly damaging |
Het |
Itgae |
G |
C |
11: 73,021,821 (GRCm39) |
G901R |
probably damaging |
Het |
Kif28 |
T |
C |
1: 179,530,103 (GRCm39) |
D686G |
probably damaging |
Het |
Kit |
A |
G |
5: 75,781,507 (GRCm39) |
E312G |
probably benign |
Het |
Lamb2 |
C |
A |
9: 108,364,937 (GRCm39) |
S1230R |
probably benign |
Het |
Lars1 |
A |
T |
18: 42,361,842 (GRCm39) |
D588E |
possibly damaging |
Het |
Lgr4 |
T |
A |
2: 109,830,948 (GRCm39) |
F292I |
probably damaging |
Het |
Lmf1 |
C |
T |
17: 25,874,493 (GRCm39) |
S458L |
probably damaging |
Het |
Lpin2 |
T |
A |
17: 71,552,154 (GRCm39) |
C787S |
probably damaging |
Het |
Ms4a4a |
A |
C |
19: 11,365,676 (GRCm39) |
I138L |
probably benign |
Het |
Mterf1a |
A |
T |
5: 3,940,984 (GRCm39) |
F295I |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,577,432 (GRCm39) |
K241* |
probably null |
Het |
Muc5b |
T |
C |
7: 141,419,268 (GRCm39) |
F4017S |
possibly damaging |
Het |
Nfkbil1 |
T |
C |
17: 35,440,384 (GRCm39) |
|
probably benign |
Het |
Or10d5j |
T |
C |
9: 39,868,202 (GRCm39) |
T22A |
probably benign |
Het |
Or4x6 |
A |
G |
2: 89,949,465 (GRCm39) |
L159P |
probably damaging |
Het |
Or8g21 |
A |
T |
9: 38,906,473 (GRCm39) |
V86E |
possibly damaging |
Het |
Osgep |
T |
C |
14: 51,155,315 (GRCm39) |
D81G |
probably damaging |
Het |
Otos |
A |
G |
1: 92,572,116 (GRCm39) |
F70S |
probably damaging |
Het |
Pcdhb2 |
T |
A |
18: 37,429,179 (GRCm39) |
V384D |
probably damaging |
Het |
Ppp1r10 |
C |
T |
17: 36,240,144 (GRCm39) |
P514S |
probably damaging |
Het |
Pramel14 |
G |
A |
4: 143,720,830 (GRCm39) |
P37L |
probably damaging |
Het |
Prdm16 |
A |
G |
4: 154,430,559 (GRCm39) |
Y309H |
probably damaging |
Het |
Rap1gds1 |
A |
T |
3: 138,661,962 (GRCm39) |
D382E |
probably damaging |
Het |
Reln |
A |
G |
5: 22,153,627 (GRCm39) |
F2226L |
probably damaging |
Het |
Rmi2 |
C |
T |
16: 10,657,765 (GRCm39) |
T125M |
probably damaging |
Het |
Setd1a |
C |
T |
7: 127,383,197 (GRCm39) |
T231I |
probably benign |
Het |
Sftpa1 |
G |
A |
14: 40,856,309 (GRCm39) |
G218D |
probably damaging |
Het |
Shcbp1 |
A |
T |
8: 4,786,138 (GRCm39) |
F655I |
probably damaging |
Het |
Slc5a7 |
T |
C |
17: 54,585,861 (GRCm39) |
I319V |
possibly damaging |
Het |
Sp140l2 |
G |
A |
1: 85,239,581 (GRCm39) |
P19S |
probably benign |
Het |
Spata31d1c |
C |
T |
13: 65,183,409 (GRCm39) |
T317I |
probably damaging |
Het |
Speg |
C |
T |
1: 75,404,742 (GRCm39) |
P2845S |
possibly damaging |
Het |
Synpo2 |
A |
G |
3: 123,029,550 (GRCm39) |
|
probably null |
Het |
Tdpoz9 |
T |
C |
3: 93,957,451 (GRCm39) |
|
probably benign |
Het |
Tdrd7 |
T |
A |
4: 46,013,191 (GRCm39) |
S644T |
probably damaging |
Het |
Tmem182 |
T |
A |
1: 40,877,460 (GRCm39) |
Y112N |
probably damaging |
Het |
Usp45 |
T |
A |
4: 21,824,815 (GRCm39) |
N522K |
probably benign |
Het |
Vnn3 |
A |
T |
10: 23,740,237 (GRCm39) |
Y180F |
probably benign |
Het |
Wnk1 |
C |
T |
6: 119,979,241 (GRCm39) |
R282Q |
possibly damaging |
Het |
Xrn1 |
A |
T |
9: 95,846,118 (GRCm39) |
D57V |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,486,357 (GRCm39) |
V344A |
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 |
R0636:Cntn6
|
UTSW |
6 |
104,840,109 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- TGTGGGCTGATATGTGAGAAAC -3'
(R):5'- AAACATGTCTGACCTTCCCTTTTGG -3'
Sequencing Primer
(F):5'- GAAACTGAGTAGTCATTTATGTGGC -3'
(R):5'- CCCTTTTGGTTATTGATGGAAAGAAG -3'
|
Posted On |
2016-06-21 |