Incidental Mutation 'R6290:Cntn6'
| ID |
508360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn6
|
| Ensembl Gene |
ENSMUSG00000030092 |
| Gene Name |
contactin 6 |
| Synonyms |
NB-3 |
| MMRRC Submission |
044460-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R6290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
104469751-104840367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104744851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 315
(Y315N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089215]
[ENSMUST00000161070]
[ENSMUST00000162872]
|
| AlphaFold |
Q9JMB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089215
AA Change: Y315N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: Y315N
| 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 damaging
Transcript: ENSMUST00000161070
AA Change: Y243N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: Y243N
| 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 damaging
Transcript: ENSMUST00000162872
AA Change: Y315N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: Y315N
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
T |
A |
1: 173,289,681 (GRCm39) |
I208N |
possibly damaging |
Het |
| Albfm1 |
T |
C |
5: 90,740,864 (GRCm39) |
|
probably null |
Het |
| Ank3 |
A |
C |
10: 69,827,198 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,259,036 (GRCm39) |
E687G |
possibly damaging |
Het |
| Ash1l |
T |
A |
3: 88,890,068 (GRCm39) |
L649* |
probably null |
Het |
| Atp7b |
C |
T |
8: 22,510,836 (GRCm39) |
G437S |
probably damaging |
Het |
| Cep89 |
G |
A |
7: 35,119,688 (GRCm39) |
G349D |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,456,492 (GRCm39) |
N846I |
probably damaging |
Het |
| Csrp2 |
T |
C |
10: 110,767,844 (GRCm39) |
C10R |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,340,412 (GRCm39) |
N625D |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,732,201 (GRCm39) |
N4235S |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,373,896 (GRCm39) |
C265R |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,028,336 (GRCm39) |
M918T |
probably benign |
Het |
| Duox1 |
C |
A |
2: 122,164,288 (GRCm39) |
T916N |
possibly damaging |
Het |
| E130308A19Rik |
A |
T |
4: 59,691,332 (GRCm39) |
I389F |
probably benign |
Het |
| Eif2ak1 |
T |
A |
5: 143,821,617 (GRCm39) |
V311D |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,220,395 (GRCm39) |
M534K |
probably benign |
Het |
| Gpr182 |
A |
T |
10: 127,586,893 (GRCm39) |
F19L |
probably benign |
Het |
| Ifi214 |
T |
A |
1: 173,356,983 (GRCm39) |
D40V |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,264,351 (GRCm39) |
V121A |
possibly damaging |
Het |
| Klrh1 |
A |
G |
6: 129,743,658 (GRCm39) |
Y209H |
probably benign |
Het |
| Mylk |
T |
A |
16: 34,715,213 (GRCm39) |
S514T |
probably benign |
Het |
| Myo18b |
C |
T |
5: 113,013,601 (GRCm39) |
R785H |
possibly damaging |
Het |
| Naga |
T |
G |
15: 82,219,057 (GRCm39) |
D230A |
possibly damaging |
Het |
| Napsa |
A |
G |
7: 44,230,761 (GRCm39) |
N70D |
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,027,216 (GRCm39) |
Y199* |
probably null |
Het |
| Olfml2b |
A |
T |
1: 170,477,359 (GRCm39) |
K165* |
probably null |
Het |
| Or1j20 |
C |
T |
2: 36,760,448 (GRCm39) |
P290L |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,970,576 (GRCm39) |
|
probably null |
Het |
| Pcyox1 |
T |
A |
6: 86,365,881 (GRCm39) |
K444N |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,242,084 (GRCm39) |
|
probably null |
Het |
| Ppp6r3 |
T |
C |
19: 3,544,011 (GRCm39) |
I335V |
probably benign |
Het |
| Prkcz |
A |
G |
4: 155,440,956 (GRCm39) |
S71P |
probably damaging |
Het |
| Psg19 |
C |
T |
7: 18,528,014 (GRCm39) |
R243Q |
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,517,769 (GRCm39) |
M382K |
possibly damaging |
Het |
| Slc16a14 |
T |
A |
1: 84,885,106 (GRCm39) |
I478L |
probably benign |
Het |
| Slc45a1 |
A |
T |
4: 150,727,096 (GRCm39) |
N174K |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
| Smpdl3b |
T |
A |
4: 132,465,586 (GRCm39) |
H278L |
possibly damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
| Synpo2 |
A |
T |
3: 122,910,701 (GRCm39) |
S315T |
probably damaging |
Het |
| Taok3 |
A |
G |
5: 117,342,433 (GRCm39) |
Y137C |
probably damaging |
Het |
| Tapbpl |
T |
C |
6: 125,207,679 (GRCm39) |
D49G |
probably benign |
Het |
| Tbr1 |
T |
C |
2: 61,635,394 (GRCm39) |
S115P |
probably benign |
Het |
| Trim67 |
C |
T |
8: 125,549,918 (GRCm39) |
T516I |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,741,828 (GRCm39) |
L1351Q |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,815,884 (GRCm39) |
I166T |
probably benign |
Het |
| Tspan8 |
T |
A |
10: 115,663,729 (GRCm39) |
C22S |
probably damaging |
Het |
| Tyro3 |
T |
C |
2: 119,647,321 (GRCm39) |
S813P |
probably benign |
Het |
| U2af2 |
G |
T |
7: 5,078,683 (GRCm39) |
V421L |
probably benign |
Het |
| Vmn1r77 |
T |
C |
7: 11,775,736 (GRCm39) |
S103P |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,873 (GRCm39) |
D911E |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,428,809 (GRCm39) |
C486S |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,331,772 (GRCm39) |
|
probably null |
Het |
| Xirp1 |
T |
G |
9: 119,847,791 (GRCm39) |
E364A |
probably benign |
Het |
| Zbp1 |
T |
C |
2: 173,057,634 (GRCm39) |
E99G |
probably damaging |
Het |
| Zfp385b |
C |
A |
2: 77,280,612 (GRCm39) |
V109F |
possibly damaging |
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 |
|
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 |
|
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'- CCCTGATATTAGTTGGAAAAGGTTG -3'
(R):5'- TCCTCAGAGAGACTATGGTATATCC -3'
Sequencing Primer
(F):5'- TTGGATGGAAGCCCGATGC -3'
(R):5'- GCACTTTTGTCTACTAAGATACCAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation