Incidental Mutation 'R4631:Cntnap3'
| ID |
349217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap3
|
| Ensembl Gene |
ENSMUSG00000033063 |
| Gene Name |
contactin associated protein-like 3 |
| Synonyms |
|
| MMRRC Submission |
041896-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4631 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64926697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 558
(Y558H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091554
AA Change: Y558H
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: Y558H
| 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 |
0.1441 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (84/84) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,165,270 (GRCm39) |
L368Q |
probably damaging |
Het |
| Abcc2 |
C |
T |
19: 43,803,146 (GRCm39) |
P661S |
possibly damaging |
Het |
| Adgre4 |
T |
G |
17: 56,121,305 (GRCm39) |
M457R |
probably null |
Het |
| Ank |
C |
A |
15: 27,467,176 (GRCm39) |
F29L |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,751,653 (GRCm39) |
|
probably benign |
Het |
| Atf6 |
T |
C |
1: 170,574,766 (GRCm39) |
|
probably null |
Het |
| Bhmt1b |
G |
A |
18: 87,774,525 (GRCm39) |
R16H |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,975,078 (GRCm39) |
F2079L |
probably damaging |
Het |
| Cd163 |
T |
C |
6: 124,306,045 (GRCm39) |
*1122Q |
probably null |
Het |
| Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
| Ctsm |
T |
A |
13: 61,685,510 (GRCm39) |
S301C |
probably null |
Het |
| Dlc1 |
A |
C |
8: 37,404,712 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
A |
T |
7: 91,737,822 (GRCm39) |
I435F |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,402,099 (GRCm39) |
V3420A |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,420,140 (GRCm39) |
Y3813N |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,067,616 (GRCm39) |
M1181T |
probably damaging |
Het |
| Drc3 |
C |
A |
11: 60,255,734 (GRCm39) |
T107N |
probably benign |
Het |
| Dydc2 |
T |
C |
14: 40,771,286 (GRCm39) |
E131G |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,080,828 (GRCm39) |
V723A |
probably damaging |
Het |
| Fndc9 |
C |
A |
11: 46,128,675 (GRCm39) |
H65N |
possibly damaging |
Het |
| Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
| Gps1 |
T |
A |
11: 120,679,065 (GRCm39) |
|
probably null |
Het |
| Gvin3 |
A |
G |
7: 106,198,730 (GRCm39) |
|
noncoding transcript |
Het |
| Kazn |
G |
A |
4: 141,845,471 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnip1 |
T |
A |
11: 33,942,821 (GRCm39) |
|
noncoding transcript |
Het |
| Kif19a |
A |
G |
11: 114,675,673 (GRCm39) |
I382V |
possibly damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Malsu1 |
A |
T |
6: 49,061,467 (GRCm39) |
E177V |
probably damaging |
Het |
| Man2a2 |
A |
G |
7: 80,012,211 (GRCm39) |
F649L |
probably benign |
Het |
| Map3k11 |
A |
G |
19: 5,740,941 (GRCm39) |
I223V |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myh9 |
T |
G |
15: 77,681,228 (GRCm39) |
D164A |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,556,984 (GRCm39) |
I1040T |
probably damaging |
Het |
| Myo18b |
C |
T |
5: 112,994,266 (GRCm39) |
A896T |
probably damaging |
Het |
| Myocd |
G |
T |
11: 65,069,685 (GRCm39) |
N798K |
probably benign |
Het |
| Or13c7b |
T |
C |
4: 43,820,563 (GRCm39) |
D266G |
probably benign |
Het |
| Or1n1b |
T |
G |
2: 36,780,630 (GRCm39) |
T77P |
probably benign |
Het |
| Or2l13b |
G |
A |
16: 19,348,891 (GRCm39) |
R260* |
probably null |
Het |
| Or4c11 |
C |
T |
2: 88,695,174 (GRCm39) |
T75I |
probably benign |
Het |
| Or4g7 |
T |
A |
2: 111,309,908 (GRCm39) |
W260R |
probably damaging |
Het |
| Or52a5 |
A |
T |
7: 103,426,682 (GRCm39) |
L290Q |
probably damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,636 (GRCm39) |
I11F |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,710,890 (GRCm39) |
I142F |
probably damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,366,212 (GRCm39) |
E334G |
possibly damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,366,125 (GRCm39) |
D363G |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,263,290 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
T |
G |
10: 13,003,743 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 4,906,537 (GRCm39) |
D364G |
possibly damaging |
Het |
| Rab2b |
T |
A |
14: 52,503,699 (GRCm39) |
H141L |
possibly damaging |
Het |
| Rev3l |
A |
G |
10: 39,704,412 (GRCm39) |
K279E |
probably benign |
Het |
| Rnf111 |
G |
T |
9: 70,357,678 (GRCm39) |
T607N |
probably benign |
Het |
| Scn8a |
C |
A |
15: 100,914,384 (GRCm39) |
S1130* |
probably null |
Het |
| Selenbp1 |
A |
G |
3: 94,851,879 (GRCm39) |
*473W |
probably null |
Het |
| Sh3bp4 |
A |
C |
1: 89,071,995 (GRCm39) |
D281A |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,486,314 (GRCm39) |
|
probably null |
Het |
| Slc1a4 |
A |
G |
11: 20,258,452 (GRCm39) |
L249P |
probably damaging |
Het |
| Slc45a2 |
T |
A |
15: 11,012,662 (GRCm39) |
S222T |
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,392,255 (GRCm39) |
F393S |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,801,078 (GRCm39) |
D536V |
possibly damaging |
Het |
| Stra6 |
T |
A |
9: 58,048,115 (GRCm39) |
|
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,007,250 (GRCm39) |
D156G |
probably benign |
Het |
| Tns3 |
A |
C |
11: 8,401,119 (GRCm39) |
F1060V |
probably benign |
Het |
| Trak1 |
G |
A |
9: 121,283,491 (GRCm39) |
R419Q |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 21,000,865 (GRCm39) |
S273P |
probably benign |
Het |
| Trmt11 |
A |
G |
10: 30,435,200 (GRCm39) |
S320P |
probably benign |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,980 (GRCm39) |
Y262F |
probably benign |
Het |
| Vmn1r73 |
G |
A |
7: 11,490,758 (GRCm39) |
C192Y |
probably benign |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
| Vmn2r25 |
T |
A |
6: 123,829,962 (GRCm39) |
D63V |
possibly damaging |
Het |
| Vps13b |
C |
T |
15: 35,646,278 (GRCm39) |
H1461Y |
possibly damaging |
Het |
| Ythdc2 |
A |
T |
18: 45,020,698 (GRCm39) |
E1427D |
probably benign |
Het |
| Zbed6 |
A |
T |
1: 133,586,482 (GRCm39) |
V285E |
probably damaging |
Het |
| Zbtb26 |
A |
G |
2: 37,326,968 (GRCm39) |
F23L |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,108,632 (GRCm39) |
*908R |
probably null |
Het |
| Zfp975 |
A |
T |
7: 42,312,369 (GRCm39) |
N81K |
probably benign |
Het |
| Zkscan16 |
G |
A |
4: 58,951,918 (GRCm39) |
V198M |
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 |
|
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'- ATGTCTGCATGGTTGACAATATGC -3'
(R):5'- TCACTGGTCATGCTGAATTTTC -3'
Sequencing Primer
(F):5'- GCATGGTTGACAATATGCAGATAAAC -3'
(R):5'- CCCAACTGTAGTTTCCACTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation