Incidental Mutation 'R6954:Cntnap3'
ID |
541388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap3
|
Ensembl Gene |
ENSMUSG00000033063 |
Gene Name |
contactin associated protein-like 3 |
Synonyms |
|
MMRRC Submission |
045066-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R6954 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 64896373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 1034
(H1034Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
AlphaFold |
E9PY62 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091554
AA Change: H1034Y
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000089140 Gene: ENSMUSG00000033063 AA Change: H1034Y
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 |
|
Meta Mutation Damage Score |
0.1570 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
Validation Efficiency |
98% (57/58) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930451I11Rik |
A |
T |
7: 126,429,809 (GRCm39) |
|
probably null |
Het |
Alox5 |
A |
C |
6: 116,397,241 (GRCm39) |
Y314* |
probably null |
Het |
Ap4e1 |
T |
C |
2: 126,906,871 (GRCm39) |
S1044P |
probably benign |
Het |
Ash2l |
A |
G |
8: 26,312,796 (GRCm39) |
V391A |
possibly damaging |
Het |
B4galnt4 |
A |
G |
7: 140,647,145 (GRCm39) |
T326A |
probably benign |
Het |
Ccm2 |
T |
A |
11: 6,544,239 (GRCm39) |
I345N |
probably damaging |
Het |
Cpsf1 |
A |
G |
15: 76,483,696 (GRCm39) |
L849S |
probably damaging |
Het |
Ctrb1 |
A |
G |
8: 112,413,296 (GRCm39) |
S239P |
probably damaging |
Het |
Dennd1b |
T |
A |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
A |
G |
11: 117,957,258 (GRCm39) |
I2773T |
probably damaging |
Het |
Eif2b2 |
T |
A |
12: 85,272,817 (GRCm39) |
F267L |
probably damaging |
Het |
Fcrl2 |
A |
G |
3: 87,170,983 (GRCm39) |
|
probably benign |
Het |
Furin |
G |
T |
7: 80,046,712 (GRCm39) |
D181E |
possibly damaging |
Het |
Gm29106 |
T |
A |
1: 118,128,317 (GRCm39) |
C670S |
probably damaging |
Het |
Gm6309 |
A |
T |
5: 146,105,300 (GRCm39) |
D204E |
possibly damaging |
Het |
Hsf2 |
T |
A |
10: 57,380,739 (GRCm39) |
I191N |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,788,124 (GRCm39) |
D566G |
probably benign |
Het |
Igf1 |
G |
C |
10: 87,700,722 (GRCm39) |
V49L |
probably damaging |
Het |
Igfbpl1 |
C |
T |
4: 45,826,663 (GRCm39) |
C44Y |
probably damaging |
Het |
Letm1 |
G |
A |
5: 33,939,851 (GRCm39) |
R16C |
probably benign |
Het |
Lypd8l |
T |
A |
11: 58,499,314 (GRCm39) |
Y168F |
probably benign |
Het |
Marf1 |
A |
G |
16: 13,956,384 (GRCm39) |
V819A |
probably damaging |
Het |
Mfsd4b4 |
A |
T |
10: 39,767,948 (GRCm39) |
S428T |
probably benign |
Het |
Myo1d |
T |
C |
11: 80,565,783 (GRCm39) |
I347M |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,743,463 (GRCm39) |
I175V |
probably damaging |
Het |
Naip5 |
A |
T |
13: 100,359,922 (GRCm39) |
V438E |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,185,044 (GRCm39) |
V768E |
possibly damaging |
Het |
Or4k6 |
A |
T |
14: 50,475,567 (GRCm39) |
Y258* |
probably null |
Het |
Or9g4b |
T |
A |
2: 85,616,726 (GRCm39) |
Y290* |
probably null |
Het |
Pcdh15 |
C |
T |
10: 74,481,821 (GRCm39) |
H1651Y |
possibly damaging |
Het |
Pdgfra |
A |
T |
5: 75,334,055 (GRCm39) |
Q376L |
possibly damaging |
Het |
Pign |
T |
C |
1: 105,481,622 (GRCm39) |
I791M |
probably benign |
Het |
Pik3c2b |
T |
G |
1: 132,994,041 (GRCm39) |
S2A |
possibly damaging |
Het |
Pip5k1a |
A |
T |
3: 94,975,558 (GRCm39) |
I304K |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,702,054 (GRCm39) |
L1294* |
probably null |
Het |
Pprc1 |
T |
C |
19: 46,052,872 (GRCm39) |
S797P |
probably damaging |
Het |
Prob1 |
A |
G |
18: 35,787,321 (GRCm39) |
V311A |
probably benign |
Het |
Prune2 |
C |
A |
19: 16,977,385 (GRCm39) |
T40K |
probably damaging |
Het |
Rif1 |
T |
G |
2: 52,002,703 (GRCm39) |
D2052E |
probably benign |
Het |
Sall1 |
A |
G |
8: 89,759,519 (GRCm39) |
V195A |
probably damaging |
Het |
Scfd1 |
T |
C |
12: 51,474,729 (GRCm39) |
|
probably null |
Het |
Sidt2 |
A |
T |
9: 45,864,148 (GRCm39) |
N123K |
probably benign |
Het |
Slc22a6 |
G |
A |
19: 8,599,460 (GRCm39) |
A320T |
probably benign |
Het |
Slc25a10 |
A |
G |
11: 120,388,973 (GRCm39) |
H279R |
probably benign |
Het |
Slc35b4 |
A |
G |
6: 34,135,556 (GRCm39) |
V252A |
probably benign |
Het |
Slc46a3 |
T |
C |
5: 147,823,150 (GRCm39) |
T231A |
probably benign |
Het |
Stxbp1 |
T |
A |
2: 32,691,905 (GRCm39) |
H429L |
probably damaging |
Het |
Tas2r134 |
C |
T |
2: 51,517,782 (GRCm39) |
T87I |
probably benign |
Het |
Tcstv6 |
A |
G |
13: 120,307,666 (GRCm39) |
D20G |
possibly damaging |
Het |
Tdpoz2 |
A |
T |
3: 93,559,582 (GRCm39) |
L130H |
probably damaging |
Het |
Tmem69 |
T |
C |
4: 116,411,921 (GRCm39) |
|
probably null |
Het |
Tmppe |
G |
A |
9: 114,234,591 (GRCm39) |
V297I |
probably benign |
Het |
Ung |
G |
T |
5: 114,269,398 (GRCm39) |
A37S |
probably benign |
Het |
Vdac1 |
T |
C |
11: 52,277,200 (GRCm39) |
Y237H |
probably damaging |
Het |
Vgll4 |
T |
C |
6: 114,898,328 (GRCm39) |
Y11C |
probably damaging |
Het |
Vmn1r24 |
A |
G |
6: 57,933,437 (GRCm39) |
I27T |
probably benign |
Het |
Zfp280b |
T |
A |
10: 75,875,522 (GRCm39) |
M467K |
probably benign |
Het |
Zkscan4 |
A |
G |
13: 21,668,535 (GRCm39) |
I329V |
probably damaging |
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 |
IGL02272:Cntnap3
|
APN |
13 |
64,905,225 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAACAGAGCTTGCAACTCTATTTTC -3'
(R):5'- TAAGGGAAAGTAGCAGCTTTATCC -3'
Sequencing Primer
(F):5'- TTTTTGATTTGTTGTTGCTTCTTTCC -3'
(R):5'- GGAAAGTAGCAGCTTTATCCATCAG -3'
|
Posted On |
2018-11-28 |