Incidental Mutation 'R8816:Cntnap2'
| ID |
672730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap2
|
| Ensembl Gene |
ENSMUSG00000039419 |
| Gene Name |
contactin associated protein-like 2 |
| Synonyms |
Caspr2, 5430425M22Rik |
| MMRRC Submission |
068726-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8816 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
45036995-47278330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46833076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 763
(D763G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114641]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114641
AA Change: D763G
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110288
Gene: ENSMUSG00000039419
AA Change: D763G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
FA58C
|
34 |
181 |
3.99e-22 |
SMART |
|
LamG
|
208 |
345 |
5.5e-34 |
SMART |
|
LamG
|
393 |
529 |
3.31e-28 |
SMART |
|
EGF
|
557 |
591 |
5.04e-2 |
SMART |
|
Blast:FBG
|
594 |
777 |
7e-68 |
BLAST |
|
LamG
|
819 |
945 |
5.58e-35 |
SMART |
|
EGF
|
966 |
1002 |
2.11e1 |
SMART |
|
LamG
|
1048 |
1188 |
3.55e-28 |
SMART |
|
low complexity region
|
1263 |
1273 |
N/A |
INTRINSIC |
|
4.1m
|
1283 |
1301 |
4.21e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]
PHENOTYPE: Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,127,513 (GRCm39) |
H348L |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,478,024 (GRCm39) |
Y74* |
probably null |
Het |
| Ass1 |
T |
C |
2: 31,383,189 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
C |
T |
2: 126,214,084 (GRCm39) |
|
probably benign |
Het |
| Atrn |
C |
A |
2: 130,748,798 (GRCm39) |
N106K |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,846,494 (GRCm39) |
V1256A |
probably damaging |
Het |
| Bicdl1 |
T |
A |
5: 115,862,804 (GRCm39) |
Q150H |
probably damaging |
Het |
| Bltp3b |
T |
C |
10: 89,626,597 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
T |
C |
9: 107,872,791 (GRCm39) |
V280A |
possibly damaging |
Het |
| Cfap54 |
C |
T |
10: 92,714,454 (GRCm39) |
V2642I |
unknown |
Het |
| Chd2 |
T |
C |
7: 73,140,245 (GRCm39) |
H661R |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,093 (GRCm39) |
C160R |
probably damaging |
Het |
| Cyb5r4 |
T |
C |
9: 86,904,286 (GRCm39) |
S19P |
probably benign |
Het |
| Cyp4a30b |
G |
A |
4: 115,309,834 (GRCm39) |
V12M |
probably benign |
Het |
| Dpp6 |
C |
T |
5: 27,930,711 (GRCm39) |
P848S |
probably benign |
Het |
| Dzip1 |
T |
C |
14: 119,159,785 (GRCm39) |
Y141C |
probably benign |
Het |
| Eif2b3 |
C |
A |
4: 116,928,052 (GRCm39) |
Q424K |
probably benign |
Het |
| Fbxw14 |
G |
A |
9: 109,105,305 (GRCm39) |
R287* |
probably null |
Het |
| Fcgbp |
T |
G |
7: 27,784,412 (GRCm39) |
S157R |
probably benign |
Het |
| Fmnl2 |
T |
G |
2: 53,004,214 (GRCm39) |
V642G |
unknown |
Het |
| Gpr119 |
C |
T |
X: 47,762,276 (GRCm39) |
R287Q |
possibly damaging |
Het |
| Grm7 |
C |
T |
6: 111,230,966 (GRCm39) |
T463I |
possibly damaging |
Het |
| Haus4 |
G |
A |
14: 54,779,710 (GRCm39) |
R305C |
probably benign |
Het |
| Htr1f |
A |
G |
16: 64,746,537 (GRCm39) |
S252P |
probably benign |
Het |
| Ino80b |
T |
C |
6: 83,098,861 (GRCm39) |
Q359R |
probably damaging |
Het |
| Itgad |
C |
A |
7: 127,797,542 (GRCm39) |
Y924* |
probably null |
Het |
| Itpr2 |
A |
G |
6: 146,142,710 (GRCm39) |
Y1703H |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,584,799 (GRCm39) |
V174E |
probably damaging |
Het |
| Kifc2 |
A |
G |
15: 76,548,371 (GRCm39) |
E405G |
probably damaging |
Het |
| Klk1b3 |
T |
C |
7: 43,851,668 (GRCm39) |
V242A |
possibly damaging |
Het |
| Kndc1 |
T |
C |
7: 139,517,909 (GRCm39) |
F1615S |
probably damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,112,793 (GRCm39) |
L1171* |
probably null |
Het |
| Myh10 |
A |
G |
11: 68,693,778 (GRCm39) |
E1530G |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,699,721 (GRCm39) |
S258C |
possibly damaging |
Het |
| Nudcd3 |
C |
T |
11: 6,100,587 (GRCm39) |
G186S |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,768 (GRCm39) |
C176S |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,950,905 (GRCm39) |
S374F |
possibly damaging |
Het |
| P2ry2 |
T |
A |
7: 100,647,763 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pde11a |
T |
C |
2: 76,121,577 (GRCm39) |
I335V |
probably benign |
Het |
| Phyhip |
A |
C |
14: 70,704,375 (GRCm39) |
D198A |
probably damaging |
Het |
| Pik3r5 |
A |
T |
11: 68,385,060 (GRCm39) |
Y655F |
probably damaging |
Het |
| Rab6a |
T |
C |
7: 100,279,145 (GRCm39) |
I95T |
possibly damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,435,097 (GRCm39) |
E99G |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,603,892 (GRCm39) |
F98L |
probably benign |
Het |
| Slc35c2 |
A |
G |
2: 165,119,378 (GRCm39) |
S321P |
probably benign |
Het |
| Smyd1 |
T |
A |
6: 71,192,868 (GRCm39) |
E447V |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,281,232 (GRCm39) |
V235A |
probably benign |
Het |
| Sod2 |
A |
G |
17: 13,227,253 (GRCm39) |
Y69C |
probably benign |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Tfap2b |
A |
G |
1: 19,284,337 (GRCm39) |
S82G |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
| Tln2 |
A |
G |
9: 67,128,799 (GRCm39) |
I1430T |
probably damaging |
Het |
| Trio |
G |
T |
15: 27,741,357 (GRCm39) |
N2680K |
probably damaging |
Het |
| Trmt10c |
A |
T |
16: 55,854,522 (GRCm39) |
V371D |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,965,580 (GRCm39) |
S1692P |
probably damaging |
Het |
| Usb1 |
G |
T |
8: 96,071,984 (GRCm39) |
C228F |
probably benign |
Het |
| Veph1 |
G |
T |
3: 66,065,646 (GRCm39) |
H474N |
probably benign |
Het |
| Wls |
A |
G |
3: 159,639,928 (GRCm39) |
T520A |
possibly damaging |
Het |
| Ywhae |
T |
C |
11: 75,623,878 (GRCm39) |
Y9H |
probably damaging |
Het |
| Zranb3 |
C |
T |
1: 127,964,347 (GRCm39) |
V127M |
possibly damaging |
Het |
|
| Other mutations in Cntnap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Cntnap2
|
APN |
6 |
45,992,197 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00657:Cntnap2
|
APN |
6 |
46,965,721 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00846:Cntnap2
|
APN |
6 |
47,169,972 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00851:Cntnap2
|
APN |
6 |
46,461,006 (GRCm39) |
missense |
probably benign |
|
|
IGL00857:Cntnap2
|
APN |
6 |
47,026,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01290:Cntnap2
|
APN |
6 |
45,992,399 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01445:Cntnap2
|
APN |
6 |
47,169,947 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01468:Cntnap2
|
APN |
6 |
47,248,305 (GRCm39) |
nonsense |
probably null |
|
|
IGL01859:Cntnap2
|
APN |
6 |
46,965,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02092:Cntnap2
|
APN |
6 |
46,211,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02239:Cntnap2
|
APN |
6 |
46,998,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02508:Cntnap2
|
APN |
6 |
46,211,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02530:Cntnap2
|
APN |
6 |
46,998,670 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03013:Cntnap2
|
APN |
6 |
47,072,483 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
BB004:Cntnap2
|
UTSW |
6 |
47,072,621 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
BB014:Cntnap2
|
UTSW |
6 |
47,072,621 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02802:Cntnap2
|
UTSW |
6 |
46,147,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:Cntnap2
|
UTSW |
6 |
46,507,105 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0007:Cntnap2
|
UTSW |
6 |
45,969,007 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0007:Cntnap2
|
UTSW |
6 |
45,969,007 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0043:Cntnap2
|
UTSW |
6 |
46,460,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0118:Cntnap2
|
UTSW |
6 |
45,037,326 (GRCm39) |
splice site |
probably null |
|
|
R0352:Cntnap2
|
UTSW |
6 |
45,969,018 (GRCm39) |
splice site |
probably null |
|
|
R0389:Cntnap2
|
UTSW |
6 |
45,986,571 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0482:Cntnap2
|
UTSW |
6 |
45,692,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0530:Cntnap2
|
UTSW |
6 |
46,506,839 (GRCm39) |
nonsense |
probably null |
|
|
R0611:Cntnap2
|
UTSW |
6 |
47,072,483 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0630:Cntnap2
|
UTSW |
6 |
46,965,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0636:Cntnap2
|
UTSW |
6 |
47,273,642 (GRCm39) |
splice site |
probably benign |
|
|
R0976:Cntnap2
|
UTSW |
6 |
47,248,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Cntnap2
|
UTSW |
6 |
46,460,902 (GRCm39) |
missense |
probably benign |
|
|
R1195:Cntnap2
|
UTSW |
6 |
46,460,902 (GRCm39) |
missense |
probably benign |
|
|
R1195:Cntnap2
|
UTSW |
6 |
46,460,902 (GRCm39) |
missense |
probably benign |
|
|
R1387:Cntnap2
|
UTSW |
6 |
47,084,848 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1524:Cntnap2
|
UTSW |
6 |
46,507,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1609:Cntnap2
|
UTSW |
6 |
45,992,264 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1716:Cntnap2
|
UTSW |
6 |
47,084,826 (GRCm39) |
nonsense |
probably null |
|
|
R1757:Cntnap2
|
UTSW |
6 |
46,736,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Cntnap2
|
UTSW |
6 |
46,965,609 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1813:Cntnap2
|
UTSW |
6 |
46,507,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Cntnap2
|
UTSW |
6 |
47,275,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Cntnap2
|
UTSW |
6 |
47,275,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3037:Cntnap2
|
UTSW |
6 |
45,992,200 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R3899:Cntnap2
|
UTSW |
6 |
45,968,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4027:Cntnap2
|
UTSW |
6 |
46,833,062 (GRCm39) |
missense |
probably benign |
|
|
R4030:Cntnap2
|
UTSW |
6 |
46,833,062 (GRCm39) |
missense |
probably benign |
|
|
R4237:Cntnap2
|
UTSW |
6 |
46,507,324 (GRCm39) |
intron |
probably benign |
|
|
R4445:Cntnap2
|
UTSW |
6 |
46,736,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4737:Cntnap2
|
UTSW |
6 |
45,037,251 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4740:Cntnap2
|
UTSW |
6 |
45,037,251 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4915:Cntnap2
|
UTSW |
6 |
46,506,969 (GRCm39) |
intron |
probably benign |
|
|
R4918:Cntnap2
|
UTSW |
6 |
46,506,969 (GRCm39) |
intron |
probably benign |
|
|
R4999:Cntnap2
|
UTSW |
6 |
45,897,768 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5373:Cntnap2
|
UTSW |
6 |
47,084,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5374:Cntnap2
|
UTSW |
6 |
47,084,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5742:Cntnap2
|
UTSW |
6 |
45,897,860 (GRCm39) |
nonsense |
probably null |
|
|
R5748:Cntnap2
|
UTSW |
6 |
45,692,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Cntnap2
|
UTSW |
6 |
46,506,749 (GRCm39) |
intron |
probably benign |
|
|
R6118:Cntnap2
|
UTSW |
6 |
47,170,011 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6181:Cntnap2
|
UTSW |
6 |
46,736,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Cntnap2
|
UTSW |
6 |
47,248,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6262:Cntnap2
|
UTSW |
6 |
45,037,046 (GRCm39) |
splice site |
probably null |
|
|
R6385:Cntnap2
|
UTSW |
6 |
46,833,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6555:Cntnap2
|
UTSW |
6 |
46,736,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Cntnap2
|
UTSW |
6 |
46,147,206 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6610:Cntnap2
|
UTSW |
6 |
45,992,191 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6761:Cntnap2
|
UTSW |
6 |
47,026,307 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7125:Cntnap2
|
UTSW |
6 |
46,965,580 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7329:Cntnap2
|
UTSW |
6 |
47,248,205 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7502:Cntnap2
|
UTSW |
6 |
46,460,963 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7927:Cntnap2
|
UTSW |
6 |
47,072,621 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8057:Cntnap2
|
UTSW |
6 |
46,324,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8261:Cntnap2
|
UTSW |
6 |
47,072,627 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8356:Cntnap2
|
UTSW |
6 |
47,026,307 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8479:Cntnap2
|
UTSW |
6 |
46,736,707 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8503:Cntnap2
|
UTSW |
6 |
45,968,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Cntnap2
|
UTSW |
6 |
47,026,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Cntnap2
|
UTSW |
6 |
45,978,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Cntnap2
|
UTSW |
6 |
46,460,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9000:Cntnap2
|
UTSW |
6 |
46,461,139 (GRCm39) |
intron |
probably benign |
|
|
R9209:Cntnap2
|
UTSW |
6 |
47,026,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:Cntnap2
|
UTSW |
6 |
45,978,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9310:Cntnap2
|
UTSW |
6 |
45,978,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9395:Cntnap2
|
UTSW |
6 |
45,978,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9462:Cntnap2
|
UTSW |
6 |
46,211,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9526:Cntnap2
|
UTSW |
6 |
45,992,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9600:Cntnap2
|
UTSW |
6 |
45,969,009 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9621:Cntnap2
|
UTSW |
6 |
46,965,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9738:Cntnap2
|
UTSW |
6 |
45,992,373 (GRCm39) |
frame shift |
probably null |
|
|
R9745:Cntnap2
|
UTSW |
6 |
46,211,100 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9775:Cntnap2
|
UTSW |
6 |
47,026,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF022:Cntnap2
|
UTSW |
6 |
46,998,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Cntnap2
|
UTSW |
6 |
45,986,452 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
X0063:Cntnap2
|
UTSW |
6 |
46,998,688 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0066:Cntnap2
|
UTSW |
6 |
46,211,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Cntnap2
|
UTSW |
6 |
47,248,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Cntnap2
|
UTSW |
6 |
45,992,233 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCATCAGATGACCATGCC -3'
(R):5'- ACACACATGTTTTCTGGCATC -3'
Sequencing Primer
(F):5'- ATGACCATGCCAGAGTTGC -3'
(R):5'- TCTTCTGAACAGCCTGGAGAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation