Incidental Mutation 'R5587:Cntnap3'
| ID |
486875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap3
|
| Ensembl Gene |
ENSMUSG00000033063 |
| Gene Name |
contactin associated protein-like 3 |
| Synonyms |
|
| MMRRC Submission |
043141-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5587 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64894552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1120
(E1120G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091554
AA Change: E1120G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: E1120G
| 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
|
| Meta Mutation Damage Score |
0.3260 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
96% (78/81) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,170 (GRCm39) |
R120G |
probably benign |
Het |
| Acad11 |
A |
G |
9: 103,940,966 (GRCm39) |
T3A |
probably benign |
Het |
| Adamts18 |
G |
A |
8: 114,501,992 (GRCm39) |
Q290* |
probably null |
Het |
| Ahnak |
A |
G |
19: 8,986,840 (GRCm39) |
D2708G |
possibly damaging |
Het |
| Asxl3 |
T |
A |
18: 22,658,304 (GRCm39) |
C2105S |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,672,281 (GRCm39) |
F1028I |
probably damaging |
Het |
| Axdnd1 |
C |
G |
1: 156,178,982 (GRCm39) |
W615C |
probably damaging |
Het |
| Bcl3 |
A |
T |
7: 19,543,559 (GRCm39) |
Y10* |
probably null |
Het |
| Bmp2 |
T |
A |
2: 133,396,566 (GRCm39) |
V74E |
possibly damaging |
Het |
| Ccdc121 |
G |
T |
5: 31,643,428 (GRCm39) |
G53W |
probably benign |
Het |
| Ccdc78 |
C |
A |
17: 26,005,651 (GRCm39) |
P21Q |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,733,348 (GRCm39) |
V199E |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,540,531 (GRCm39) |
W1330R |
unknown |
Het |
| Coq4 |
A |
G |
2: 29,685,526 (GRCm39) |
|
probably null |
Het |
| Cwf19l1 |
G |
A |
19: 44,109,316 (GRCm39) |
T346I |
possibly damaging |
Het |
| Cyct |
T |
C |
2: 76,184,547 (GRCm39) |
Y68C |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,870,977 (GRCm39) |
L2368P |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,328,068 (GRCm39) |
F3346I |
probably damaging |
Het |
| Dpp3 |
A |
T |
19: 4,968,295 (GRCm39) |
V259E |
probably damaging |
Het |
| Dpyd |
A |
C |
3: 118,858,600 (GRCm39) |
S605R |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,089,459 (GRCm39) |
E209G |
probably damaging |
Het |
| Esrra |
A |
G |
19: 6,897,575 (GRCm39) |
S61P |
probably benign |
Het |
| Garin2 |
C |
A |
12: 78,761,849 (GRCm39) |
P171H |
probably damaging |
Het |
| Gbx2 |
T |
A |
1: 89,860,844 (GRCm39) |
|
probably benign |
Het |
| Hepacam |
A |
G |
9: 37,295,980 (GRCm39) |
H377R |
probably damaging |
Het |
| Igkv12-46 |
T |
C |
6: 69,741,534 (GRCm39) |
Y107C |
probably damaging |
Het |
| Intu |
A |
G |
3: 40,629,738 (GRCm39) |
D356G |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,539,054 (GRCm39) |
N113Y |
probably damaging |
Het |
| Krt86 |
G |
A |
15: 101,371,474 (GRCm39) |
A15T |
probably benign |
Het |
| Lhx8 |
A |
T |
3: 154,017,316 (GRCm39) |
S275R |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,671,364 (GRCm39) |
S189T |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,601,168 (GRCm39) |
M702K |
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,623,715 (GRCm39) |
Y223C |
|
Het |
| Lrit3 |
G |
T |
3: 129,582,547 (GRCm39) |
A359E |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,329,607 (GRCm39) |
E1720G |
probably benign |
Het |
| Mcub |
A |
C |
3: 129,710,619 (GRCm39) |
V271G |
probably benign |
Het |
| Nktr |
C |
T |
9: 121,577,555 (GRCm39) |
|
probably benign |
Het |
| Or10g9 |
A |
T |
9: 39,911,917 (GRCm39) |
I202N |
possibly damaging |
Het |
| Or13p4 |
T |
A |
4: 118,547,067 (GRCm39) |
D194V |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,624,633 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,012,540 (GRCm39) |
L82Q |
probably damaging |
Het |
| Or52z12 |
T |
A |
7: 103,233,738 (GRCm39) |
Y170N |
probably benign |
Het |
| Or9i1 |
G |
A |
19: 13,839,940 (GRCm39) |
R261H |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,087,875 (GRCm39) |
V686A |
probably benign |
Het |
| Pelo |
A |
G |
13: 115,226,409 (GRCm39) |
V16A |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 118,902,900 (GRCm39) |
S539P |
probably benign |
Het |
| Prss1 |
A |
G |
6: 41,440,199 (GRCm39) |
I179V |
possibly damaging |
Het |
| Ptgs2 |
T |
C |
1: 149,981,306 (GRCm39) |
Y530H |
probably damaging |
Het |
| Rai1 |
T |
C |
11: 60,080,685 (GRCm39) |
V1583A |
probably damaging |
Het |
| Raph1 |
T |
G |
1: 60,537,632 (GRCm39) |
D508A |
probably damaging |
Het |
| Rmnd5a |
A |
G |
6: 71,371,603 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,311,328 (GRCm39) |
L686P |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,373,291 (GRCm39) |
I1323M |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,103,425 (GRCm39) |
N1934S |
probably benign |
Het |
| Sec23ip |
C |
T |
7: 128,352,151 (GRCm39) |
H176Y |
probably benign |
Het |
| Sh3glb2 |
A |
G |
2: 30,244,863 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
G |
3: 72,821,909 (GRCm39) |
I1384T |
possibly damaging |
Het |
| Spata31d1a |
A |
C |
13: 59,850,432 (GRCm39) |
C565W |
probably damaging |
Het |
| Srbd1 |
T |
A |
17: 86,435,229 (GRCm39) |
Q278L |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,662,625 (GRCm39) |
H345R |
unknown |
Het |
| Suox |
A |
T |
10: 128,507,694 (GRCm39) |
D111E |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,868,726 (GRCm39) |
F218L |
probably benign |
Het |
| Tfcp2l1 |
C |
A |
1: 118,592,492 (GRCm39) |
N288K |
possibly damaging |
Het |
| Tmem128 |
G |
T |
5: 38,417,765 (GRCm39) |
R7L |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,344,850 (GRCm39) |
N494S |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,412,966 (GRCm39) |
H80L |
probably benign |
Het |
| Tnrc6c |
C |
T |
11: 117,640,097 (GRCm39) |
Q1211* |
probably null |
Het |
| Tns1 |
T |
A |
1: 73,959,755 (GRCm39) |
D1671V |
possibly damaging |
Het |
| Trmt1l |
T |
A |
1: 151,311,455 (GRCm39) |
|
probably benign |
Het |
| Tshz2 |
A |
T |
2: 169,726,262 (GRCm39) |
D286V |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,566,485 (GRCm39) |
E39G |
probably benign |
Het |
| Vmn2r125 |
G |
A |
4: 156,702,433 (GRCm39) |
C73Y |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,911 (GRCm39) |
F777S |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,427 (GRCm39) |
E407G |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,379,458 (GRCm39) |
N521S |
probably damaging |
Het |
| Zan |
C |
G |
5: 137,390,024 (GRCm39) |
S4816T |
unknown |
Het |
| Zc3h7b |
T |
C |
15: 81,656,059 (GRCm39) |
Y136H |
possibly damaging |
Het |
| Zfp101 |
T |
C |
17: 33,600,295 (GRCm39) |
K487R |
possibly 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 |
|
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'- TCAGTTTGAAAGAGAGACTGGC -3'
(R):5'- TTGGCCACAGAAAGCACTG -3'
Sequencing Primer
(F):5'- TTTGAAAGAGAGACTGGCAAACAAAG -3'
(R):5'- CAGGAACAGTAACTTTTGTGTGC -3'
|
| Posted On |
2017-09-06 |
Incidental Mutation