Incidental Mutation 'IGL02272:Cntnap3'
ID |
287215 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cntnap3
|
Ensembl Gene |
ENSMUSG00000033063 |
Gene Name |
contactin associated protein-like 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL02272
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 64905225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 852
(V852E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
AlphaFold |
E9PY62 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091554
AA Change: V852E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089140 Gene: ENSMUSG00000033063 AA Change: V852E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
FA58C
|
33 |
180 |
4.88e-17 |
SMART |
LamG
|
207 |
345 |
1.47e-11 |
SMART |
LamG
|
394 |
525 |
1.43e-23 |
SMART |
EGF
|
553 |
587 |
1.33e-1 |
SMART |
FBG
|
590 |
775 |
6.76e-1 |
SMART |
LamG
|
815 |
942 |
1.89e-32 |
SMART |
EGF_like
|
963 |
999 |
6.28e1 |
SMART |
LamG
|
1040 |
1178 |
9.46e-15 |
SMART |
transmembrane domain
|
1245 |
1267 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222618
|
Coding Region Coverage |
|
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 belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
T |
A |
17: 57,757,021 (GRCm39) |
C759* |
probably null |
Het |
Adgrg6 |
T |
A |
10: 14,344,573 (GRCm39) |
M127L |
probably damaging |
Het |
Anxa9 |
A |
G |
3: 95,213,205 (GRCm39) |
V47A |
probably benign |
Het |
Arhgef12 |
T |
A |
9: 42,912,748 (GRCm39) |
D483V |
probably damaging |
Het |
Arrdc3 |
C |
A |
13: 81,039,769 (GRCm39) |
|
probably benign |
Het |
Ccdc169 |
A |
G |
3: 55,058,169 (GRCm39) |
E67G |
probably damaging |
Het |
Ccdc191 |
T |
A |
16: 43,780,385 (GRCm39) |
V731D |
possibly damaging |
Het |
Cdh3 |
G |
T |
8: 107,274,468 (GRCm39) |
|
probably null |
Het |
Cntnap1 |
G |
A |
11: 101,069,142 (GRCm39) |
V199M |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,249,907 (GRCm39) |
S1024T |
probably damaging |
Het |
Cyp3a25 |
T |
C |
5: 145,930,075 (GRCm39) |
|
probably benign |
Het |
Dusp6 |
T |
A |
10: 99,101,881 (GRCm39) |
V289D |
probably damaging |
Het |
Ecpas |
A |
T |
4: 58,811,731 (GRCm39) |
N1439K |
probably benign |
Het |
Epha6 |
C |
T |
16: 59,639,300 (GRCm39) |
R858Q |
probably damaging |
Het |
Flrt2 |
T |
A |
12: 95,746,478 (GRCm39) |
F272Y |
probably damaging |
Het |
Gbf1 |
T |
A |
19: 46,258,242 (GRCm39) |
W846R |
probably damaging |
Het |
Gtpbp2 |
T |
A |
17: 46,475,707 (GRCm39) |
V152E |
probably benign |
Het |
Hmces |
A |
G |
6: 87,894,837 (GRCm39) |
|
probably null |
Het |
Hsph1 |
A |
G |
5: 149,540,995 (GRCm39) |
S852P |
probably benign |
Het |
Kat6b |
A |
C |
14: 21,676,846 (GRCm39) |
K394Q |
probably damaging |
Het |
Kdr |
G |
A |
5: 76,122,500 (GRCm39) |
T475I |
probably benign |
Het |
Klhl25 |
A |
G |
7: 75,516,368 (GRCm39) |
T425A |
probably benign |
Het |
Klk1b8 |
T |
A |
7: 43,602,217 (GRCm39) |
C50S |
probably damaging |
Het |
Kri1 |
T |
C |
9: 21,187,464 (GRCm39) |
Y343C |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,355,768 (GRCm39) |
S953P |
probably benign |
Het |
Lpin1 |
A |
G |
12: 16,597,601 (GRCm39) |
V681A |
probably damaging |
Het |
Lpin3 |
A |
G |
2: 160,743,581 (GRCm39) |
T508A |
probably benign |
Het |
Moxd1 |
T |
A |
10: 24,158,598 (GRCm39) |
Y417* |
probably null |
Het |
Mthfd1l |
T |
G |
10: 3,991,812 (GRCm39) |
I588S |
probably damaging |
Het |
Myo5c |
C |
A |
9: 75,173,442 (GRCm39) |
N543K |
possibly damaging |
Het |
Myo9a |
T |
A |
9: 59,791,883 (GRCm39) |
|
probably benign |
Het |
Nme8 |
T |
C |
13: 19,842,996 (GRCm39) |
Y393C |
probably damaging |
Het |
Nr2e1 |
T |
G |
10: 42,443,975 (GRCm39) |
N249T |
probably damaging |
Het |
Pex11g |
A |
G |
8: 3,515,898 (GRCm39) |
V45A |
probably benign |
Het |
Pkhd1 |
C |
A |
1: 20,279,484 (GRCm39) |
G2945W |
probably damaging |
Het |
Plxnd1 |
A |
G |
6: 115,970,589 (GRCm39) |
F393S |
probably damaging |
Het |
Ppp3cc |
A |
G |
14: 70,473,938 (GRCm39) |
V353A |
probably damaging |
Het |
Prss16 |
T |
A |
13: 22,187,205 (GRCm39) |
Q455L |
probably damaging |
Het |
Ptpn6 |
A |
T |
6: 124,698,171 (GRCm39) |
V524E |
probably damaging |
Het |
Rap1gap |
A |
G |
4: 137,443,877 (GRCm39) |
Y163C |
probably damaging |
Het |
Rnf31 |
C |
T |
14: 55,836,239 (GRCm39) |
L598F |
probably damaging |
Het |
Sardh |
T |
G |
2: 27,115,003 (GRCm39) |
D550A |
probably benign |
Het |
Serpinc1 |
T |
G |
1: 160,827,562 (GRCm39) |
I387S |
probably damaging |
Het |
Sh3d19 |
A |
T |
3: 86,028,474 (GRCm39) |
D650V |
probably benign |
Het |
Sipa1l2 |
T |
A |
8: 126,218,750 (GRCm39) |
T196S |
probably damaging |
Het |
Slc25a46 |
T |
C |
18: 31,716,621 (GRCm39) |
T294A |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,034,756 (GRCm39) |
|
probably benign |
Het |
Steap2 |
T |
A |
5: 5,727,612 (GRCm39) |
N241I |
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,573,594 (GRCm39) |
Y206C |
probably damaging |
Het |
Tmem259 |
T |
A |
10: 79,814,297 (GRCm39) |
Q322L |
probably damaging |
Het |
Tnni2 |
C |
A |
7: 141,997,166 (GRCm39) |
Q52K |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,565,372 (GRCm39) |
V28285A |
possibly damaging |
Het |
Uba7 |
T |
A |
9: 107,853,352 (GRCm39) |
S99R |
probably benign |
Het |
Ubxn2b |
A |
T |
4: 6,216,071 (GRCm39) |
K331N |
probably damaging |
Het |
Usp50 |
G |
A |
2: 126,611,864 (GRCm39) |
T232I |
probably damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,604,973 (GRCm39) |
M95I |
probably benign |
Het |
Vmn2r116 |
T |
A |
17: 23,604,978 (GRCm39) |
L97Q |
probably damaging |
Het |
Vmn2r24 |
A |
T |
6: 123,763,843 (GRCm39) |
N240I |
possibly damaging |
Het |
Vmn2r72 |
T |
C |
7: 85,399,901 (GRCm39) |
R383G |
probably benign |
Het |
|
Other mutations in Cntnap3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Cntnap3
|
APN |
13 |
64,920,545 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00782:Cntnap3
|
APN |
13 |
64,893,619 (GRCm39) |
splice site |
probably benign |
|
IGL00976:Cntnap3
|
APN |
13 |
64,942,166 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01319:Cntnap3
|
APN |
13 |
64,935,651 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01610:Cntnap3
|
APN |
13 |
64,905,115 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01861:Cntnap3
|
APN |
13 |
64,946,922 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02127:Cntnap3
|
APN |
13 |
64,946,878 (GRCm39) |
splice site |
probably benign |
|
IGL02133:Cntnap3
|
APN |
13 |
64,899,487 (GRCm39) |
splice site |
probably benign |
|
IGL02251:Cntnap3
|
APN |
13 |
64,909,850 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02370:Cntnap3
|
APN |
13 |
64,899,565 (GRCm39) |
missense |
probably benign |
|
IGL02456:Cntnap3
|
APN |
13 |
64,946,872 (GRCm39) |
splice site |
probably benign |
|
IGL02589:Cntnap3
|
APN |
13 |
64,940,244 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02695:Cntnap3
|
APN |
13 |
64,919,946 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02850:Cntnap3
|
APN |
13 |
64,905,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03038:Cntnap3
|
APN |
13 |
64,888,839 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL03188:Cntnap3
|
APN |
13 |
64,929,559 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03327:Cntnap3
|
APN |
13 |
65,035,582 (GRCm39) |
nonsense |
probably null |
|
PIT4480001:Cntnap3
|
UTSW |
13 |
64,905,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R0309:Cntnap3
|
UTSW |
13 |
64,905,250 (GRCm39) |
splice site |
probably benign |
|
R0422:Cntnap3
|
UTSW |
13 |
64,905,099 (GRCm39) |
missense |
probably damaging |
0.96 |
R0463:Cntnap3
|
UTSW |
13 |
64,926,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R0491:Cntnap3
|
UTSW |
13 |
64,909,859 (GRCm39) |
missense |
probably benign |
0.01 |
R0499:Cntnap3
|
UTSW |
13 |
65,006,492 (GRCm39) |
missense |
probably benign |
0.33 |
R0550:Cntnap3
|
UTSW |
13 |
64,909,814 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0613:Cntnap3
|
UTSW |
13 |
64,906,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R0666:Cntnap3
|
UTSW |
13 |
64,905,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R0840:Cntnap3
|
UTSW |
13 |
64,935,724 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1577:Cntnap3
|
UTSW |
13 |
64,906,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R1716:Cntnap3
|
UTSW |
13 |
64,909,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R1732:Cntnap3
|
UTSW |
13 |
64,888,626 (GRCm39) |
critical splice donor site |
probably null |
|
R1739:Cntnap3
|
UTSW |
13 |
64,888,406 (GRCm39) |
missense |
probably benign |
0.17 |
R1905:Cntnap3
|
UTSW |
13 |
65,051,578 (GRCm39) |
missense |
probably benign |
0.04 |
R1988:Cntnap3
|
UTSW |
13 |
64,906,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R2086:Cntnap3
|
UTSW |
13 |
64,942,076 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3732:Cntnap3
|
UTSW |
13 |
64,888,813 (GRCm39) |
missense |
possibly damaging |
0.73 |
R3808:Cntnap3
|
UTSW |
13 |
64,929,618 (GRCm39) |
missense |
probably damaging |
0.96 |
R3809:Cntnap3
|
UTSW |
13 |
64,929,618 (GRCm39) |
missense |
probably damaging |
0.96 |
R4384:Cntnap3
|
UTSW |
13 |
64,896,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R4433:Cntnap3
|
UTSW |
13 |
64,926,667 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4631:Cntnap3
|
UTSW |
13 |
64,926,697 (GRCm39) |
missense |
probably benign |
0.04 |
R4645:Cntnap3
|
UTSW |
13 |
64,926,602 (GRCm39) |
critical splice donor site |
probably null |
|
R4702:Cntnap3
|
UTSW |
13 |
64,926,676 (GRCm39) |
missense |
probably benign |
0.17 |
R4876:Cntnap3
|
UTSW |
13 |
64,935,520 (GRCm39) |
missense |
probably benign |
0.00 |
R4994:Cntnap3
|
UTSW |
13 |
64,909,798 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5043:Cntnap3
|
UTSW |
13 |
64,942,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R5214:Cntnap3
|
UTSW |
13 |
64,909,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R5403:Cntnap3
|
UTSW |
13 |
64,909,792 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5571:Cntnap3
|
UTSW |
13 |
65,051,572 (GRCm39) |
missense |
probably damaging |
0.98 |
R5587:Cntnap3
|
UTSW |
13 |
64,894,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R5695:Cntnap3
|
UTSW |
13 |
64,935,769 (GRCm39) |
missense |
probably damaging |
0.99 |
R5834:Cntnap3
|
UTSW |
13 |
64,896,391 (GRCm39) |
missense |
probably benign |
0.07 |
R5892:Cntnap3
|
UTSW |
13 |
64,946,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R5950:Cntnap3
|
UTSW |
13 |
64,935,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R6526:Cntnap3
|
UTSW |
13 |
64,929,702 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6954:Cntnap3
|
UTSW |
13 |
64,896,373 (GRCm39) |
missense |
probably benign |
0.00 |
R7138:Cntnap3
|
UTSW |
13 |
64,929,539 (GRCm39) |
critical splice donor site |
probably null |
|
R7355:Cntnap3
|
UTSW |
13 |
64,919,776 (GRCm39) |
missense |
probably benign |
|
R7425:Cntnap3
|
UTSW |
13 |
64,906,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R7521:Cntnap3
|
UTSW |
13 |
64,919,815 (GRCm39) |
missense |
probably benign |
0.22 |
R7719:Cntnap3
|
UTSW |
13 |
64,920,591 (GRCm39) |
nonsense |
probably null |
|
R7810:Cntnap3
|
UTSW |
13 |
64,941,122 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7871:Cntnap3
|
UTSW |
13 |
65,051,587 (GRCm39) |
missense |
probably benign |
0.00 |
R8259:Cntnap3
|
UTSW |
13 |
64,935,681 (GRCm39) |
missense |
probably damaging |
0.99 |
R8415:Cntnap3
|
UTSW |
13 |
64,886,479 (GRCm39) |
missense |
probably benign |
0.31 |
R8491:Cntnap3
|
UTSW |
13 |
64,933,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R9086:Cntnap3
|
UTSW |
13 |
64,929,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R9087:Cntnap3
|
UTSW |
13 |
64,899,532 (GRCm39) |
missense |
probably damaging |
0.96 |
R9398:Cntnap3
|
UTSW |
13 |
65,051,648 (GRCm39) |
missense |
probably benign |
0.41 |
R9475:Cntnap3
|
UTSW |
13 |
64,946,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R9625:Cntnap3
|
UTSW |
13 |
65,006,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R9679:Cntnap3
|
UTSW |
13 |
64,899,562 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cntnap3
|
UTSW |
13 |
64,940,202 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Cntnap3
|
UTSW |
13 |
64,888,686 (GRCm39) |
frame shift |
probably null |
|
Z1177:Cntnap3
|
UTSW |
13 |
64,929,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |