Incidental Mutation 'R6338:Cntn6'
| ID |
514323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn6
|
| Ensembl Gene |
ENSMUSG00000030092 |
| Gene Name |
contactin 6 |
| Synonyms |
NB-3 |
| MMRRC Submission |
044492-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R6338 (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 A
at 104726139 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 174
(V174E)
|
| 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: V174E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: V174E
| 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: V102E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: V102E
| 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: V174E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: V174E
| 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: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.8%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
T |
C |
7: 98,257,715 (GRCm38) |
Y128C |
probably damaging |
Het |
| Adam30 |
T |
G |
3: 98,161,541 (GRCm38) |
I102S |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,920,617 (GRCm38) |
D163E |
possibly damaging |
Het |
| Agrn |
C |
T |
4: 156,170,585 (GRCm38) |
E1614K |
probably benign |
Het |
| Aldh16a1 |
A |
T |
7: 45,141,961 (GRCm38) |
W107R |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,845,570 (GRCm38) |
D238G |
probably damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,833,725 (GRCm38) |
S738G |
probably benign |
Het |
| Arid5b |
C |
A |
10: 68,098,561 (GRCm38) |
G504* |
probably null |
Het |
| Carmil3 |
T |
C |
14: 55,499,849 (GRCm38) |
V763A |
possibly damaging |
Het |
| Cd209e |
T |
A |
8: 3,849,154 (GRCm38) |
D186V |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,413,151 (GRCm38) |
D882G |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,890,812 (GRCm38) |
V689A |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,956,633 (GRCm38) |
T390M |
unknown |
Het |
| Crybg1 |
T |
C |
10: 43,992,509 (GRCm38) |
D1017G |
probably damaging |
Het |
| Csmd1 |
T |
G |
8: 15,932,492 (GRCm38) |
K2725T |
possibly damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,198,122 (GRCm38) |
E55G |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,953,499 (GRCm38) |
V476A |
probably damaging |
Het |
| Fem1b |
A |
T |
9: 62,797,011 (GRCm38) |
D322E |
probably benign |
Het |
| Frmpd1 |
G |
A |
4: 45,274,489 (GRCm38) |
V466I |
probably benign |
Het |
| Gm11639 |
C |
T |
11: 104,843,208 (GRCm38) |
R2027* |
probably null |
Het |
| Gm20671 |
A |
T |
5: 32,820,647 (GRCm38) |
D1794E |
probably damaging |
Het |
| Gpatch2 |
G |
T |
1: 187,225,514 (GRCm38) |
R22L |
probably damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,816,456 (GRCm38) |
T450A |
probably benign |
Het |
| Kcnc2 |
G |
C |
10: 112,271,856 (GRCm38) |
G51R |
probably benign |
Het |
| Krit1 |
T |
G |
5: 3,836,857 (GRCm38) |
M702R |
probably benign |
Het |
| Krt34 |
T |
C |
11: 100,038,490 (GRCm38) |
N298S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,547,316 (GRCm38) |
N376K |
possibly damaging |
Het |
| Myo15 |
A |
G |
11: 60,478,133 (GRCm38) |
E573G |
probably damaging |
Het |
| Olfr1224-ps1 |
T |
A |
2: 89,156,371 (GRCm38) |
K268I |
probably damaging |
Het |
| Olfr1390 |
A |
G |
11: 49,340,867 (GRCm38) |
S112G |
probably benign |
Het |
| Olfr366 |
A |
T |
2: 37,219,822 (GRCm38) |
D111V |
probably damaging |
Het |
| Olfr391-ps |
A |
T |
11: 73,799,319 (GRCm38) |
L146Q |
possibly damaging |
Het |
| Olfr661 |
T |
A |
7: 104,688,171 (GRCm38) |
V52E |
possibly damaging |
Het |
| Olfr736 |
T |
A |
14: 50,393,400 (GRCm38) |
F215I |
possibly damaging |
Het |
| Phf20 |
A |
T |
2: 156,273,686 (GRCm38) |
Q309L |
possibly damaging |
Het |
| Plcd1 |
G |
A |
9: 119,074,991 (GRCm38) |
R292C |
probably damaging |
Het |
| Pold3 |
A |
G |
7: 100,088,105 (GRCm38) |
V342A |
possibly damaging |
Het |
| Polr2a |
A |
T |
11: 69,739,679 (GRCm38) |
|
probably null |
Het |
| Ptprcap |
A |
G |
19: 4,156,224 (GRCm38) |
E102G |
probably benign |
Het |
| Rab11fip5 |
T |
C |
6: 85,341,378 (GRCm38) |
E843G |
possibly damaging |
Het |
| Rai14 |
T |
C |
15: 10,574,976 (GRCm38) |
D632G |
probably damaging |
Het |
| Rnf149 |
A |
T |
1: 39,560,742 (GRCm38) |
C268S |
probably null |
Het |
| Slc6a13 |
T |
A |
6: 121,334,839 (GRCm38) |
F392I |
probably damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,384,043 (GRCm38) |
|
probably null |
Het |
| Slf1 |
T |
A |
13: 77,084,462 (GRCm38) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,697,485 (GRCm38) |
V1408I |
probably benign |
Het |
| Suclg1 |
T |
C |
6: 73,264,246 (GRCm38) |
I183T |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,255,475 (GRCm38) |
E3497G |
probably benign |
Het |
| Tax1bp1 |
C |
T |
6: 52,729,376 (GRCm38) |
R121* |
probably null |
Het |
| Tdpoz2 |
C |
T |
3: 93,652,336 (GRCm38) |
V110I |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,490,714 (GRCm38) |
T788A |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,734,447 (GRCm38) |
I1255F |
probably damaging |
Het |
| Usp44 |
G |
T |
10: 93,846,513 (GRCm38) |
R275I |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,215,034 (GRCm38) |
N1015D |
probably benign |
Het |
| Wbp2nl |
G |
T |
15: 82,299,045 (GRCm38) |
W13C |
possibly damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,758,590 (GRCm38) |
D170E |
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 |
|
|
PIT4366001:Cntn6
|
UTSW |
6 |
104,832,537 (GRCm38) |
missense |
probably benign |
0.05 |
|
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 |
|
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'- CCTTAGCCAAAGAAAATGGTGATG -3'
(R):5'- CCCACAATGTAAGAGTCCAGGG -3'
Sequencing Primer
(F):5'- GGAGAAGGAAATTTTTGTATCTCCC -3'
(R):5'- CAGGGGGAGTCTGAAGATAATTTATG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation