Incidental Mutation 'R8491:Cntnap3'
ID |
658010 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap3
|
Ensembl Gene |
ENSMUSG00000033063 |
Gene Name |
contactin associated protein-like 3 |
Synonyms |
|
MMRRC Submission |
067933-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R8491 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 64933157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 454
(D454E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
AlphaFold |
E9PY62 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091554
AA Change: D454E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089140 Gene: ENSMUSG00000033063 AA Change: D454E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (52/52) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aard |
A |
T |
15: 51,903,708 (GRCm39) |
I44F |
unknown |
Het |
Agap1 |
A |
G |
1: 89,537,294 (GRCm39) |
E100G |
probably damaging |
Het |
Aoc3 |
G |
T |
11: 101,223,042 (GRCm39) |
R426L |
probably benign |
Het |
Aspm |
T |
G |
1: 139,385,433 (GRCm39) |
L359R |
probably damaging |
Het |
Atp8b2 |
A |
G |
3: 89,865,676 (GRCm39) |
S75P |
probably damaging |
Het |
Bcl9l |
A |
G |
9: 44,412,065 (GRCm39) |
E17G |
probably benign |
Het |
Casc3 |
G |
T |
11: 98,713,977 (GRCm39) |
R403L |
probably benign |
Het |
Cdh16 |
T |
C |
8: 105,343,681 (GRCm39) |
D605G |
probably damaging |
Het |
Cdh2 |
A |
G |
18: 16,757,775 (GRCm39) |
|
probably null |
Het |
Cers5 |
T |
A |
15: 99,638,831 (GRCm39) |
K161N |
probably damaging |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Cxcl15 |
T |
A |
5: 90,943,089 (GRCm39) |
C30* |
probably null |
Het |
Cyp4a12a |
C |
A |
4: 115,158,650 (GRCm39) |
|
probably null |
Het |
Dlc1 |
A |
T |
8: 37,052,000 (GRCm39) |
I577N |
probably benign |
Het |
Dusp6 |
C |
A |
10: 99,102,081 (GRCm39) |
R210S |
possibly damaging |
Het |
Faxc |
T |
A |
4: 21,993,319 (GRCm39) |
M321K |
probably damaging |
Het |
Fez2 |
C |
A |
17: 78,692,200 (GRCm39) |
V340L |
probably benign |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gdnf |
A |
G |
15: 7,864,272 (GRCm39) |
I228V |
possibly damaging |
Het |
Gm12258 |
A |
G |
11: 58,745,122 (GRCm39) |
T18A |
|
Het |
Gm5460 |
T |
C |
14: 33,761,740 (GRCm39) |
L194P |
probably damaging |
Het |
Gm6040 |
T |
G |
8: 21,407,135 (GRCm39) |
R28S |
possibly damaging |
Het |
Gmps |
A |
G |
3: 63,921,779 (GRCm39) |
E594G |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,281,030 (GRCm39) |
V3334A |
probably benign |
Het |
Idh3a |
T |
C |
9: 54,506,963 (GRCm39) |
|
probably null |
Het |
Ins1 |
A |
G |
19: 52,252,808 (GRCm39) |
|
probably benign |
Het |
Mug1 |
A |
T |
6: 121,859,688 (GRCm39) |
D1229V |
probably damaging |
Het |
Ndufs1 |
T |
C |
1: 63,196,384 (GRCm39) |
D347G |
probably damaging |
Het |
Or52d3 |
G |
A |
7: 104,229,242 (GRCm39) |
V130I |
probably damaging |
Het |
Or8k25 |
A |
G |
2: 86,244,099 (GRCm39) |
I99T |
probably benign |
Het |
Pclo |
C |
A |
5: 14,565,244 (GRCm39) |
N3K |
unknown |
Het |
Pigl |
A |
G |
11: 62,364,293 (GRCm39) |
R112G |
probably null |
Het |
Prkcq |
T |
C |
2: 11,284,335 (GRCm39) |
Y502H |
probably damaging |
Het |
Psg16 |
T |
C |
7: 16,824,437 (GRCm39) |
Y74H |
probably damaging |
Het |
Psme4 |
G |
A |
11: 30,722,161 (GRCm39) |
G60D |
possibly damaging |
Het |
Rpp14 |
A |
T |
14: 8,083,925 (GRCm38) |
Q27L |
possibly damaging |
Het |
Serpini2 |
A |
C |
3: 75,159,822 (GRCm39) |
C315G |
probably damaging |
Het |
Slitrk3 |
A |
G |
3: 72,958,592 (GRCm39) |
I60T |
possibly damaging |
Het |
Svil |
T |
C |
18: 5,106,678 (GRCm39) |
Y1436H |
probably damaging |
Het |
Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
Tob1 |
A |
G |
11: 94,105,115 (GRCm39) |
D217G |
probably benign |
Het |
Trim21 |
A |
C |
7: 102,208,689 (GRCm39) |
D343E |
probably benign |
Het |
Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
Trmt13 |
T |
C |
3: 116,376,228 (GRCm39) |
R388G |
probably benign |
Het |
Ubqlnl |
A |
G |
7: 103,798,582 (GRCm39) |
V305A |
probably benign |
Het |
Ushbp1 |
A |
G |
8: 71,845,041 (GRCm39) |
V244A |
probably benign |
Het |
Vdac2 |
T |
A |
14: 21,887,838 (GRCm39) |
N60K |
possibly damaging |
Het |
Vwa5a |
A |
G |
9: 38,652,476 (GRCm39) |
E753G |
probably damaging |
Het |
Washc4 |
A |
G |
10: 83,411,987 (GRCm39) |
D706G |
probably benign |
Het |
Zbtb5 |
T |
C |
4: 44,995,090 (GRCm39) |
D98G |
probably damaging |
Het |
Zfp53 |
A |
G |
17: 21,729,621 (GRCm39) |
I551M |
probably benign |
Het |
Zfp958 |
G |
T |
8: 4,676,215 (GRCm39) |
R61I |
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 |
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 |
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'- TTAACATGCCTGTGATGAGAGG -3'
(R):5'- GGATGCCTTAGAGGAGATAATGTTTTC -3'
Sequencing Primer
(F):5'- CAGTGGAGATTATTTGGACCCAC -3'
(R):5'- CTTCGTGTGTTGTCATAATAAATGG -3'
|
Posted On |
2021-01-18 |