Incidental Mutation 'R1732:Cntnap3'
| ID |
257022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap3
|
| Ensembl Gene |
ENSMUSG00000033063 |
| Gene Name |
contactin associated protein-like 3 |
| Synonyms |
|
| MMRRC Submission |
039764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1732 (G1)
|
| Quality Score |
58 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 64888626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000091554
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
| 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 |
0.9473 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.6%
|
| Validation Efficiency |
99% (78/79) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
A |
12: 71,265,995 (GRCm39) |
Q1445K |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,328,148 (GRCm39) |
M303L |
possibly damaging |
Het |
| Actl9 |
T |
C |
17: 33,652,096 (GRCm39) |
V52A |
probably damaging |
Het |
| Adam7 |
T |
C |
14: 68,735,899 (GRCm39) |
T781A |
probably benign |
Het |
| Agpat4 |
T |
C |
17: 12,435,615 (GRCm39) |
V293A |
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,601,479 (GRCm39) |
|
probably benign |
Het |
| Atp1a1 |
C |
A |
3: 101,492,115 (GRCm39) |
G587V |
probably damaging |
Het |
| Avpr1b |
T |
C |
1: 131,527,992 (GRCm39) |
F172L |
probably damaging |
Het |
| Bmp1 |
A |
T |
14: 70,723,705 (GRCm39) |
D710E |
possibly damaging |
Het |
| Cep126 |
A |
T |
9: 8,099,762 (GRCm39) |
I924N |
probably benign |
Het |
| Chek2 |
G |
T |
5: 111,019,968 (GRCm39) |
A517S |
probably benign |
Het |
| Cmbl |
A |
T |
15: 31,588,378 (GRCm39) |
E165D |
probably damaging |
Het |
| Col1a1 |
A |
T |
11: 94,835,241 (GRCm39) |
|
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 132,600,653 (GRCm39) |
M624V |
possibly damaging |
Het |
| Cwc15 |
A |
G |
9: 14,421,543 (GRCm39) |
D203G |
probably benign |
Het |
| Cyld |
C |
T |
8: 89,458,295 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,302,455 (GRCm39) |
I84F |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,409,267 (GRCm39) |
|
probably benign |
Het |
| Desi2 |
A |
C |
1: 178,084,217 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,026,511 (GRCm39) |
L1873* |
probably null |
Het |
| Dmxl1 |
T |
A |
18: 50,036,055 (GRCm39) |
H2359Q |
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,370,440 (GRCm39) |
N880S |
possibly damaging |
Het |
| F10 |
T |
C |
8: 13,100,764 (GRCm39) |
L214P |
probably damaging |
Het |
| F5 |
G |
A |
1: 164,001,719 (GRCm39) |
V141M |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,065,734 (GRCm39) |
S1022T |
possibly damaging |
Het |
| Fam13b |
A |
T |
18: 34,620,187 (GRCm39) |
N232K |
probably benign |
Het |
| Fyco1 |
T |
C |
9: 123,648,157 (GRCm39) |
E1259G |
probably benign |
Het |
| Gak |
A |
T |
5: 108,724,448 (GRCm39) |
D1087E |
probably benign |
Het |
| Gm7138 |
A |
T |
10: 77,612,682 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,962 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr25 |
A |
G |
1: 136,187,866 (GRCm39) |
V249A |
probably benign |
Het |
| Hcn3 |
T |
C |
3: 89,055,426 (GRCm39) |
H607R |
probably damaging |
Het |
| Hdac4 |
T |
A |
1: 91,875,257 (GRCm39) |
T905S |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,804,279 (GRCm39) |
S86P |
probably benign |
Het |
| Itgb4 |
G |
T |
11: 115,879,744 (GRCm39) |
R632L |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,779,979 (GRCm39) |
T284S |
probably benign |
Het |
| Klhl22 |
T |
A |
16: 17,594,888 (GRCm39) |
M339K |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Mybpc2 |
C |
A |
7: 44,163,099 (GRCm39) |
V484L |
probably benign |
Het |
| Noa1 |
A |
T |
5: 77,454,221 (GRCm39) |
V473E |
probably benign |
Het |
| Nwd1 |
C |
G |
8: 73,393,463 (GRCm39) |
S242C |
possibly damaging |
Het |
| Or55b10 |
C |
A |
7: 102,143,247 (GRCm39) |
C245F |
probably damaging |
Het |
| Or7e174 |
A |
G |
9: 20,012,796 (GRCm39) |
H247R |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,543,815 (GRCm39) |
W535R |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,712,084 (GRCm39) |
E1046G |
possibly damaging |
Het |
| Phldb2 |
T |
C |
16: 45,577,529 (GRCm39) |
E1132G |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 20,994,625 (GRCm39) |
|
probably null |
Het |
| Plce1 |
G |
T |
19: 38,705,282 (GRCm39) |
A896S |
possibly damaging |
Het |
| Prim1 |
T |
C |
10: 127,851,193 (GRCm39) |
Y26H |
probably damaging |
Het |
| Prr12 |
T |
A |
7: 44,697,780 (GRCm39) |
T712S |
unknown |
Het |
| Psme4 |
G |
A |
11: 30,798,105 (GRCm39) |
R1366H |
probably benign |
Het |
| Ptpdc1 |
T |
C |
13: 48,740,021 (GRCm39) |
E409G |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,795,467 (GRCm39) |
N274S |
probably damaging |
Het |
| Rbm14 |
A |
G |
19: 4,853,495 (GRCm39) |
S296P |
probably benign |
Het |
| Rec114 |
A |
G |
9: 58,560,389 (GRCm39) |
S206P |
probably damaging |
Het |
| Rps6ka1 |
A |
T |
4: 133,587,381 (GRCm39) |
Y531N |
probably damaging |
Het |
| Slc28a2 |
T |
C |
2: 122,280,239 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 55,561,233 (GRCm39) |
H566R |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,373,291 (GRCm39) |
T290A |
probably benign |
Het |
| Smarcc1 |
T |
A |
9: 110,014,888 (GRCm39) |
|
probably benign |
Het |
| Srp54b |
T |
A |
12: 55,299,544 (GRCm39) |
|
probably null |
Het |
| Stambpl1 |
C |
G |
19: 34,204,121 (GRCm39) |
N70K |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,761,118 (GRCm39) |
K710E |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,763,669 (GRCm39) |
D795V |
probably damaging |
Het |
| Tgm2 |
T |
C |
2: 157,976,277 (GRCm39) |
Y149C |
probably damaging |
Het |
| Tmem151a |
C |
A |
19: 5,132,895 (GRCm39) |
A104S |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,538,100 (GRCm39) |
|
probably null |
Het |
| Tpgs1 |
T |
A |
10: 79,511,428 (GRCm39) |
L190Q |
possibly damaging |
Het |
| Triobp |
T |
A |
15: 78,851,428 (GRCm39) |
H527Q |
possibly damaging |
Het |
| Tspan2 |
A |
G |
3: 102,676,193 (GRCm39) |
I197V |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,525,506 (GRCm39) |
I76V |
probably benign |
Het |
| Vmn1r32 |
A |
T |
6: 66,530,285 (GRCm39) |
S164T |
probably benign |
Het |
| Zfp607a |
G |
T |
7: 27,577,884 (GRCm39) |
C318F |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGGGGCTGTCTATCTTCTGC -3'
(R):5'- CCCTGGATGCTGATCCTGAAACAC -3'
Sequencing Primer
(F):5'- TGCAGAAGAAATGGGAGAGAG -3'
(R):5'- TCAGGGCTTCACAGGCTG -3'
|
| Posted On |
2015-01-09 |
Incidental Mutation