Incidental Mutation 'PIT4366001:Cntn6'
| ID |
554759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn6
|
| Ensembl Gene |
ENSMUSG00000030092 |
| Gene Name |
contactin 6 |
| Synonyms |
NB-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
PIT4366001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
104492790-104863406 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104832537 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 511
(V511A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089215]
[ENSMUST00000161070]
[ENSMUST00000162872]
|
| AlphaFold |
Q9JMB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089215
AA Change: V511A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: V511A
| 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: V439A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: V439A
| 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: V511A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: V511A
| 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: 93.0%
- 3x: 90.7%
- 10x: 85.5%
- 20x: 73.8%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
A |
11: 120,010,960 (GRCm38) |
S870I |
possibly damaging |
Het |
| Abca13 |
T |
C |
11: 9,294,962 (GRCm38) |
V2275A |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,936,098 (GRCm38) |
K278R |
probably damaging |
Het |
| Adcy2 |
TA |
TAA |
13: 68,709,990 (GRCm38) |
|
probably benign |
Het |
| Add3 |
C |
T |
19: 53,216,867 (GRCm38) |
P16L |
unknown |
Het |
| Akap9 |
T |
A |
5: 4,046,221 (GRCm38) |
D2365E |
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,343,746 (GRCm38) |
S300P |
possibly damaging |
Het |
| Astn1 |
A |
T |
1: 158,597,209 (GRCm38) |
H655L |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,597,211 (GRCm38) |
I656F |
probably benign |
Het |
| Bmpr1b |
T |
A |
3: 141,880,463 (GRCm38) |
T13S |
probably benign |
Het |
| Camsap2 |
A |
G |
1: 136,280,317 (GRCm38) |
F478L |
|
Het |
| Card10 |
G |
A |
15: 78,787,431 (GRCm38) |
S611L |
probably benign |
Het |
| Cep68 |
T |
C |
11: 20,240,007 (GRCm38) |
N335S |
probably benign |
Het |
| Chac1 |
T |
C |
2: 119,351,505 (GRCm38) |
W35R |
probably damaging |
Het |
| Cpne9 |
G |
T |
6: 113,294,746 (GRCm38) |
G356W |
probably damaging |
Het |
| Dnah10 |
C |
A |
5: 124,775,524 (GRCm38) |
T1939K |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,595,721 (GRCm38) |
N239D |
probably benign |
Het |
| Dock5 |
T |
C |
14: 67,824,674 (GRCm38) |
K415R |
possibly damaging |
Het |
| Dtd2 |
C |
A |
12: 51,999,799 (GRCm38) |
D86Y |
probably damaging |
Het |
| Efcab9 |
A |
G |
11: 32,523,608 (GRCm38) |
F127S |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,628,789 (GRCm38) |
H375R |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,653,201 (GRCm38) |
M1295K |
probably damaging |
Het |
| Gbp7 |
T |
G |
3: 142,542,951 (GRCm38) |
I325R |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,336,851 (GRCm38) |
K1493E |
probably benign |
Het |
| Gucy2g |
T |
A |
19: 55,237,782 (GRCm38) |
E234V |
probably null |
Het |
| Itpr1 |
T |
A |
6: 108,493,757 (GRCm38) |
C2215* |
probably null |
Het |
| Ltn1 |
G |
A |
16: 87,380,840 (GRCm38) |
R1634* |
probably null |
Het |
| Lynx1 |
A |
T |
15: 74,751,409 (GRCm38) |
M58K |
possibly damaging |
Het |
| Macc1 |
T |
C |
12: 119,446,949 (GRCm38) |
V484A |
probably benign |
Het |
| Map3k9 |
C |
T |
12: 81,772,761 (GRCm38) |
V240M |
possibly damaging |
Het |
| Mars1 |
A |
G |
10: 127,299,398 (GRCm38) |
M608T |
possibly damaging |
Het |
| Mc2r |
T |
C |
18: 68,407,755 (GRCm38) |
M156V |
probably benign |
Het |
| Mchr1 |
G |
T |
15: 81,237,216 (GRCm38) |
V56L |
probably benign |
Het |
| Mlxip |
C |
T |
5: 123,395,110 (GRCm38) |
P61S |
probably benign |
Het |
| Mtarc1 |
A |
G |
1: 184,807,186 (GRCm38) |
F96S |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,754,796 (GRCm38) |
T1557A |
unknown |
Het |
| Myt1 |
T |
C |
2: 181,825,938 (GRCm38) |
V1135A |
probably damaging |
Het |
| Ndufaf6 |
A |
T |
4: 11,073,215 (GRCm38) |
S76T |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,060,335 (GRCm38) |
Y665C |
probably damaging |
Het |
| Oaz3 |
T |
G |
3: 94,433,594 (GRCm38) |
R215S |
unknown |
Het |
| Or10x1 |
T |
C |
1: 174,369,090 (GRCm38) |
Y58H |
probably damaging |
Het |
| Or5m10b |
T |
C |
2: 85,868,882 (GRCm38) |
C97R |
probably damaging |
Het |
| Or5m8 |
A |
T |
2: 85,992,041 (GRCm38) |
N75Y |
probably damaging |
Het |
| Or5w1b |
C |
T |
2: 87,645,190 (GRCm38) |
W311* |
probably null |
Het |
| Perm1 |
G |
T |
4: 156,218,735 (GRCm38) |
V579L |
probably benign |
Het |
| Phyhipl |
A |
G |
10: 70,568,958 (GRCm38) |
V140A |
probably benign |
Het |
| Pip5k1c |
T |
A |
10: 81,309,008 (GRCm38) |
S228T |
probably damaging |
Het |
| Plekhn1 |
T |
G |
4: 156,224,811 (GRCm38) |
T213P |
probably damaging |
Het |
| Pomt2 |
A |
T |
12: 87,116,529 (GRCm38) |
|
probably null |
Het |
| Ptcd1 |
A |
G |
5: 145,151,335 (GRCm38) |
V622A |
probably benign |
Het |
| Ptn |
T |
A |
6: 36,741,349 (GRCm38) |
H127L |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,586,019 (GRCm38) |
M1193L |
probably benign |
Het |
| Ptpru |
G |
A |
4: 131,799,712 (GRCm38) |
P650S |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,733,390 (GRCm38) |
L613Q |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,691,620 (GRCm38) |
T1458A |
probably damaging |
Het |
| Sap130 |
C |
T |
18: 31,677,409 (GRCm38) |
A470V |
probably benign |
Het |
| Sertad2 |
C |
A |
11: 20,648,116 (GRCm38) |
P104Q |
probably benign |
Het |
| Sfrp4 |
A |
T |
13: 19,630,244 (GRCm38) |
M324L |
unknown |
Het |
| Sh3bp4 |
A |
G |
1: 89,145,434 (GRCm38) |
N668S |
probably benign |
Het |
| Snx30 |
C |
A |
4: 59,894,653 (GRCm38) |
D410E |
probably benign |
Het |
| Spata31 |
C |
A |
13: 64,921,505 (GRCm38) |
S489* |
probably null |
Het |
| Taok3 |
T |
A |
5: 117,227,985 (GRCm38) |
M367K |
probably benign |
Het |
| Tfap2a |
T |
C |
13: 40,721,374 (GRCm38) |
N254D |
possibly damaging |
Het |
| Tgtp1 |
T |
G |
11: 48,987,040 (GRCm38) |
L279F |
possibly damaging |
Het |
| Tmpo |
A |
G |
10: 91,163,310 (GRCm38) |
F205S |
probably damaging |
Het |
| Tmprss5 |
A |
T |
9: 49,112,217 (GRCm38) |
I218L |
probably benign |
Het |
| Tti2 |
A |
G |
8: 31,151,196 (GRCm38) |
E116G |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 42,045,781 (GRCm38) |
N402K |
possibly damaging |
Het |
|
| Other mutations in Cntn6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00547:Cntn6
|
APN |
6 |
104,650,400 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01331:Cntn6
|
APN |
6 |
104,774,523 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01619:Cntn6
|
APN |
6 |
104,728,374 (GRCm38) |
splice site |
probably benign |
|
|
IGL02028:Cntn6
|
APN |
6 |
104,859,426 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02420:Cntn6
|
APN |
6 |
104,846,142 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02557:Cntn6
|
APN |
6 |
104,774,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03000:Cntn6
|
APN |
6 |
104,804,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03367:Cntn6
|
APN |
6 |
104,804,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03383:Cntn6
|
APN |
6 |
104,776,457 (GRCm38) |
splice site |
probably benign |
|
|
R0490:Cntn6
|
UTSW |
6 |
104,833,918 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0583:Cntn6
|
UTSW |
6 |
104,776,314 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R0636:Cntn6
|
UTSW |
6 |
104,863,148 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0654:Cntn6
|
UTSW |
6 |
104,776,428 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0960:Cntn6
|
UTSW |
6 |
104,774,480 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1241:Cntn6
|
UTSW |
6 |
104,832,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1385:Cntn6
|
UTSW |
6 |
104,861,900 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1401:Cntn6
|
UTSW |
6 |
104,804,398 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1478:Cntn6
|
UTSW |
6 |
104,776,428 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1542:Cntn6
|
UTSW |
6 |
104,848,100 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1593:Cntn6
|
UTSW |
6 |
104,832,580 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1840:Cntn6
|
UTSW |
6 |
104,774,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2066:Cntn6
|
UTSW |
6 |
104,861,822 (GRCm38) |
nonsense |
probably null |
|
|
R2097:Cntn6
|
UTSW |
6 |
104,861,949 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2289:Cntn6
|
UTSW |
6 |
104,569,028 (GRCm38) |
start gained |
probably benign |
|
|
R2429:Cntn6
|
UTSW |
6 |
104,650,565 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R2967:Cntn6
|
UTSW |
6 |
104,726,237 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4009:Cntn6
|
UTSW |
6 |
104,833,822 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4476:Cntn6
|
UTSW |
6 |
104,772,561 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4664:Cntn6
|
UTSW |
6 |
104,728,284 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4666:Cntn6
|
UTSW |
6 |
104,728,284 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4701:Cntn6
|
UTSW |
6 |
104,804,360 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4780:Cntn6
|
UTSW |
6 |
104,845,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4854:Cntn6
|
UTSW |
6 |
104,859,475 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4965:Cntn6
|
UTSW |
6 |
104,774,474 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5051:Cntn6
|
UTSW |
6 |
104,772,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5075:Cntn6
|
UTSW |
6 |
104,833,030 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5152:Cntn6
|
UTSW |
6 |
104,569,113 (GRCm38) |
intron |
probably benign |
|
|
R5291:Cntn6
|
UTSW |
6 |
104,726,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5388:Cntn6
|
UTSW |
6 |
104,832,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5852:Cntn6
|
UTSW |
6 |
104,835,745 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5937:Cntn6
|
UTSW |
6 |
104,833,103 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5980:Cntn6
|
UTSW |
6 |
104,848,132 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6290:Cntn6
|
UTSW |
6 |
104,767,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6338:Cntn6
|
UTSW |
6 |
104,726,139 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6396:Cntn6
|
UTSW |
6 |
104,650,500 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6447:Cntn6
|
UTSW |
6 |
104,859,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6860:Cntn6
|
UTSW |
6 |
104,861,946 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6871:Cntn6
|
UTSW |
6 |
104,845,758 (GRCm38) |
frame shift |
probably null |
|
|
R7012:Cntn6
|
UTSW |
6 |
104,774,480 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7012:Cntn6
|
UTSW |
6 |
104,726,262 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7337:Cntn6
|
UTSW |
6 |
104,650,530 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7658:Cntn6
|
UTSW |
6 |
104,650,483 (GRCm38) |
missense |
probably benign |
0.29 |
|
R8133:Cntn6
|
UTSW |
6 |
104,728,337 (GRCm38) |
missense |
probably benign |
0.19 |
|
R8463:Cntn6
|
UTSW |
6 |
104,772,619 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R8909:Cntn6
|
UTSW |
6 |
104,848,132 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9232:Cntn6
|
UTSW |
6 |
104,838,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9287:Cntn6
|
UTSW |
6 |
104,832,510 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9454:Cntn6
|
UTSW |
6 |
104,804,347 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9698:Cntn6
|
UTSW |
6 |
104,833,083 (GRCm38) |
nonsense |
probably null |
|
|
X0020:Cntn6
|
UTSW |
6 |
104,767,884 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Cntn6
|
UTSW |
6 |
104,832,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATGTGCCTCAGTACAGGGG -3'
(R):5'- GAGAATGATTACGAACCATGTGGATTC -3'
Sequencing Primer
(F):5'- TGCCTCAGTACAGGGGAACAC -3'
(R):5'- CGAACCATGTGGATTCATATAAAAAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation