Incidental Mutation 'R0849:Cntn4'
| ID |
77060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn4
|
| Ensembl Gene |
ENSMUSG00000064293 |
| Gene Name |
contactin 4 |
| Synonyms |
BIG-2A, Axcam |
| MMRRC Submission |
039028-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R0849 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
105654621-106676271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106644418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 622
(D622V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079416]
[ENSMUST00000089208]
[ENSMUST00000113260]
[ENSMUST00000113261]
[ENSMUST00000113264]
|
| AlphaFold |
Q69Z26 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079416
AA Change: D622V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
AA Change: D622V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089208
AA Change: D622V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: D622V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
FN3
|
700 |
786 |
8.39e0 |
SMART |
|
FN3
|
801 |
886 |
1.33e-6 |
SMART |
|
FN3
|
901 |
981 |
9.85e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113260
AA Change: D622V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293
AA Change: D622V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113261
AA Change: D622V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293
AA Change: D622V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113264
AA Change: D622V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: D622V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
|
IG
|
129 |
215 |
3.4e-6 |
SMART |
|
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
|
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
|
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
IG
|
504 |
594 |
9.55e-10 |
SMART |
|
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
FN3
|
700 |
786 |
8.39e0 |
SMART |
|
FN3
|
801 |
886 |
1.33e-6 |
SMART |
|
FN3
|
901 |
981 |
9.85e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204621
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 92.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit aberrant projection of olfactory axons to multiple glomeruli in the olfactory bulb. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
T |
C |
12: 52,566,406 (GRCm39) |
F1126L |
probably benign |
Het |
| Arhgef11 |
G |
T |
3: 87,643,203 (GRCm39) |
A1472S |
probably benign |
Het |
| Armc9 |
G |
A |
1: 86,184,992 (GRCm39) |
R681K |
probably benign |
Het |
| Atxn2 |
T |
A |
5: 121,885,484 (GRCm39) |
|
probably null |
Het |
| B3gnt6 |
C |
A |
7: 97,843,950 (GRCm39) |
L3F |
probably benign |
Het |
| Cand2 |
A |
G |
6: 115,769,352 (GRCm39) |
T721A |
probably damaging |
Het |
| Cntn2 |
A |
T |
1: 132,450,124 (GRCm39) |
M590K |
probably benign |
Het |
| Des |
T |
G |
1: 75,337,272 (GRCm39) |
S71A |
probably benign |
Het |
| Dnah5 |
C |
A |
15: 28,263,745 (GRCm39) |
R827S |
probably damaging |
Het |
| Dstn |
G |
A |
2: 143,780,455 (GRCm39) |
G52S |
probably benign |
Het |
| Eln |
T |
A |
5: 134,736,835 (GRCm39) |
R704* |
probably null |
Het |
| Fezf2 |
T |
A |
14: 12,342,607 (GRCm38) |
K419N |
probably damaging |
Het |
| Gm2381 |
G |
A |
7: 42,469,372 (GRCm39) |
Q251* |
probably null |
Het |
| Grin3a |
G |
A |
4: 49,665,501 (GRCm39) |
R1045* |
probably null |
Het |
| Herc2 |
T |
A |
7: 55,856,326 (GRCm39) |
H3921Q |
probably damaging |
Het |
| Hs3st2 |
A |
G |
7: 121,100,255 (GRCm39) |
E367G |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,325,616 (GRCm39) |
R4675H |
probably damaging |
Het |
| Inhca |
A |
C |
9: 103,140,256 (GRCm39) |
Y488D |
possibly damaging |
Het |
| Irf2bp1 |
T |
C |
7: 18,738,659 (GRCm39) |
S100P |
possibly damaging |
Het |
| Itga10 |
A |
G |
3: 96,559,846 (GRCm39) |
I500M |
possibly damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,435,500 (GRCm39) |
V496A |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,670 (GRCm39) |
D169G |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,741,835 (GRCm39) |
S3869T |
probably damaging |
Het |
| Mrgprb4 |
G |
A |
7: 47,848,868 (GRCm39) |
T20I |
probably benign |
Het |
| Nek4 |
A |
G |
14: 30,679,253 (GRCm39) |
E198G |
probably damaging |
Het |
| Or12e8 |
G |
T |
2: 87,188,609 (GRCm39) |
V274L |
probably benign |
Het |
| Or2y10 |
G |
A |
11: 49,455,129 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or5w11 |
C |
A |
2: 87,459,626 (GRCm39) |
T273K |
possibly damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,247,110 (GRCm39) |
F537I |
probably benign |
Het |
| Rarb |
A |
G |
14: 16,434,293 (GRCm38) |
V295A |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,740,104 (GRCm39) |
S3941P |
probably damaging |
Het |
| Scnn1b |
A |
G |
7: 121,511,698 (GRCm39) |
N370S |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Sv2c |
C |
T |
13: 96,126,319 (GRCm39) |
G311D |
probably damaging |
Het |
| Tas2r109 |
T |
C |
6: 132,957,856 (GRCm39) |
I25V |
probably benign |
Het |
| Tbcel |
A |
C |
9: 42,348,453 (GRCm39) |
I305S |
probably damaging |
Het |
| Tmem35b |
A |
G |
4: 127,019,990 (GRCm39) |
|
probably null |
Het |
| Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
| Tmtc4 |
A |
G |
14: 123,182,966 (GRCm39) |
I244T |
possibly damaging |
Het |
| Usp9y |
C |
A |
Y: 1,394,002 (GRCm39) |
C576F |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,853,072 (GRCm39) |
N629K |
possibly damaging |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,363 (GRCm39) |
Y409C |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,674,142 (GRCm39) |
Y400C |
probably damaging |
Het |
|
| Other mutations in Cntn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Cntn4
|
APN |
6 |
106,483,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00725:Cntn4
|
APN |
6 |
106,639,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01062:Cntn4
|
APN |
6 |
106,595,239 (GRCm39) |
splice site |
probably benign |
|
|
IGL01432:Cntn4
|
APN |
6 |
106,655,295 (GRCm39) |
splice site |
probably benign |
|
|
IGL01585:Cntn4
|
APN |
6 |
106,595,289 (GRCm39) |
nonsense |
probably null |
|
|
IGL01710:Cntn4
|
APN |
6 |
106,527,392 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01870:Cntn4
|
APN |
6 |
106,466,676 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01933:Cntn4
|
APN |
6 |
106,671,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01937:Cntn4
|
APN |
6 |
106,414,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01945:Cntn4
|
APN |
6 |
106,414,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02007:Cntn4
|
APN |
6 |
106,632,490 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02506:Cntn4
|
APN |
6 |
106,595,349 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02561:Cntn4
|
APN |
6 |
106,500,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03080:Cntn4
|
APN |
6 |
106,632,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03338:Cntn4
|
APN |
6 |
106,632,550 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03097:Cntn4
|
UTSW |
6 |
106,330,673 (GRCm39) |
missense |
probably benign |
0.10 |
|
LCD18:Cntn4
|
UTSW |
6 |
106,530,901 (GRCm39) |
intron |
probably benign |
|
|
R0083:Cntn4
|
UTSW |
6 |
106,502,330 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0098:Cntn4
|
UTSW |
6 |
106,595,385 (GRCm39) |
splice site |
probably benign |
|
|
R0501:Cntn4
|
UTSW |
6 |
106,595,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Cntn4
|
UTSW |
6 |
106,639,539 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0633:Cntn4
|
UTSW |
6 |
106,656,209 (GRCm39) |
splice site |
probably null |
|
|
R0730:Cntn4
|
UTSW |
6 |
106,527,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Cntn4
|
UTSW |
6 |
106,644,501 (GRCm39) |
splice site |
probably benign |
|
|
R0926:Cntn4
|
UTSW |
6 |
106,632,542 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1199:Cntn4
|
UTSW |
6 |
106,330,558 (GRCm39) |
splice site |
probably benign |
|
|
R1293:Cntn4
|
UTSW |
6 |
106,330,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1296:Cntn4
|
UTSW |
6 |
106,486,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1344:Cntn4
|
UTSW |
6 |
106,321,831 (GRCm39) |
splice site |
probably null |
|
|
R1418:Cntn4
|
UTSW |
6 |
106,321,831 (GRCm39) |
splice site |
probably null |
|
|
R1660:Cntn4
|
UTSW |
6 |
106,656,258 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1751:Cntn4
|
UTSW |
6 |
106,595,371 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1883:Cntn4
|
UTSW |
6 |
106,656,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1884:Cntn4
|
UTSW |
6 |
106,656,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1899:Cntn4
|
UTSW |
6 |
106,652,774 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1906:Cntn4
|
UTSW |
6 |
106,330,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2048:Cntn4
|
UTSW |
6 |
106,414,825 (GRCm39) |
splice site |
probably benign |
|
|
R2113:Cntn4
|
UTSW |
6 |
106,466,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3177:Cntn4
|
UTSW |
6 |
106,414,925 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3277:Cntn4
|
UTSW |
6 |
106,414,925 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3944:Cntn4
|
UTSW |
6 |
106,595,375 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4401:Cntn4
|
UTSW |
6 |
106,466,625 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4540:Cntn4
|
UTSW |
6 |
106,652,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Cntn4
|
UTSW |
6 |
106,414,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Cntn4
|
UTSW |
6 |
106,502,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Cntn4
|
UTSW |
6 |
106,632,572 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4816:Cntn4
|
UTSW |
6 |
106,527,458 (GRCm39) |
missense |
probably benign |
|
|
R4873:Cntn4
|
UTSW |
6 |
106,414,874 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4875:Cntn4
|
UTSW |
6 |
106,414,874 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4953:Cntn4
|
UTSW |
6 |
106,502,379 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5288:Cntn4
|
UTSW |
6 |
106,158,765 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5336:Cntn4
|
UTSW |
6 |
106,639,595 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5386:Cntn4
|
UTSW |
6 |
106,158,765 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5477:Cntn4
|
UTSW |
6 |
106,650,911 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5514:Cntn4
|
UTSW |
6 |
106,649,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Cntn4
|
UTSW |
6 |
106,656,397 (GRCm39) |
splice site |
silent |
|
|
R6334:Cntn4
|
UTSW |
6 |
106,321,747 (GRCm39) |
missense |
probably benign |
|
|
R6334:Cntn4
|
UTSW |
6 |
106,483,153 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6904:Cntn4
|
UTSW |
6 |
106,674,544 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6985:Cntn4
|
UTSW |
6 |
106,656,378 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7246:Cntn4
|
UTSW |
6 |
106,483,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7282:Cntn4
|
UTSW |
6 |
106,502,421 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7585:Cntn4
|
UTSW |
6 |
106,466,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Cntn4
|
UTSW |
6 |
106,656,856 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7781:Cntn4
|
UTSW |
6 |
106,500,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7882:Cntn4
|
UTSW |
6 |
106,330,684 (GRCm39) |
missense |
probably benign |
|
|
R8081:Cntn4
|
UTSW |
6 |
106,651,568 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8105:Cntn4
|
UTSW |
6 |
106,330,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8221:Cntn4
|
UTSW |
6 |
106,486,471 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8910:Cntn4
|
UTSW |
6 |
106,632,497 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8911:Cntn4
|
UTSW |
6 |
106,330,743 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8916:Cntn4
|
UTSW |
6 |
106,652,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9249:Cntn4
|
UTSW |
6 |
106,466,722 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9376:Cntn4
|
UTSW |
6 |
106,639,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Cntn4
|
UTSW |
6 |
106,674,525 (GRCm39) |
nonsense |
probably null |
|
|
R9767:Cntn4
|
UTSW |
6 |
106,655,395 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1176:Cntn4
|
UTSW |
6 |
106,500,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cntn4
|
UTSW |
6 |
106,486,425 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1177:Cntn4
|
UTSW |
6 |
106,639,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cntn4
|
UTSW |
6 |
106,527,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAATGATTGAGTGATTCAGTACCCCG -3'
(R):5'- GCTGATGCTCAGGTCCAGTGAC -3'
Sequencing Primer
(F):5'- CAGTACCCCGTTTAAGTAAGTAGGTC -3'
(R):5'- ATGCTCAGGTCCAGTGACATTAG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation