Incidental Mutation 'R5695:Cntnap3'
| ID |
443897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap3
|
| Ensembl Gene |
ENSMUSG00000033063 |
| Gene Name |
contactin associated protein-like 3 |
| Synonyms |
|
| MMRRC Submission |
043326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5695 (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 64935769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 365
(S365P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091554
AA Change: S365P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: S365P
| 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 |
0.1353 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
98% (58/59) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
A |
12: 84,660,745 (GRCm39) |
H116L |
probably damaging |
Het |
| Anapc4 |
C |
T |
5: 53,019,581 (GRCm39) |
S581L |
probably benign |
Het |
| Ano8 |
A |
C |
8: 71,935,887 (GRCm39) |
D276E |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,407,407 (GRCm39) |
R2098H |
probably benign |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,784,843 (GRCm39) |
G184S |
probably damaging |
Het |
| Cbx8 |
T |
C |
11: 118,930,137 (GRCm39) |
D152G |
probably benign |
Het |
| Cdca2 |
A |
G |
14: 67,943,078 (GRCm39) |
|
probably null |
Het |
| Cgn |
G |
A |
3: 94,680,945 (GRCm39) |
A531V |
probably benign |
Het |
| Cmya5 |
C |
A |
13: 93,182,374 (GRCm39) |
|
probably null |
Het |
| Crnn |
A |
G |
3: 93,056,330 (GRCm39) |
Q372R |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,097,124 (GRCm39) |
E276V |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,890,744 (GRCm39) |
|
probably null |
Het |
| Enpep |
C |
T |
3: 129,102,748 (GRCm39) |
D403N |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,530,806 (GRCm39) |
E550G |
probably damaging |
Het |
| Entpd8 |
A |
G |
2: 24,974,346 (GRCm39) |
D377G |
probably benign |
Het |
| Epc2 |
T |
A |
2: 49,437,619 (GRCm39) |
|
probably null |
Het |
| Erich3 |
G |
T |
3: 154,439,210 (GRCm39) |
G481V |
probably damaging |
Het |
| Fank1 |
A |
G |
7: 133,471,075 (GRCm39) |
Y156C |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,203 (GRCm39) |
D3869G |
probably damaging |
Het |
| Gcnt2 |
A |
G |
13: 41,071,675 (GRCm39) |
D106G |
probably benign |
Het |
| Gm20830 |
A |
T |
Y: 6,916,501 (GRCm39) |
V206E |
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,914,691 (GRCm39) |
V228A |
possibly damaging |
Het |
| Gon4l |
TGAGCA |
TGAGCAGAGCA |
3: 88,803,523 (GRCm39) |
|
probably null |
Het |
| Gtpbp1 |
G |
A |
15: 79,596,375 (GRCm39) |
|
probably null |
Het |
| Hhat |
A |
T |
1: 192,399,327 (GRCm39) |
M271K |
probably damaging |
Het |
| Hipk2 |
A |
T |
6: 38,795,810 (GRCm39) |
M153K |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,261,915 (GRCm39) |
H2672L |
probably benign |
Het |
| Igfbpl1 |
A |
T |
4: 45,826,374 (GRCm39) |
D140E |
probably damaging |
Het |
| Kctd1 |
T |
G |
18: 15,196,573 (GRCm39) |
|
probably benign |
Het |
| Lax1 |
A |
T |
1: 133,608,316 (GRCm39) |
Y142N |
probably damaging |
Het |
| Lpin2 |
C |
T |
17: 71,551,798 (GRCm39) |
R733C |
probably damaging |
Het |
| Morn4 |
A |
G |
19: 42,064,556 (GRCm39) |
L144P |
possibly damaging |
Het |
| Nup214 |
C |
A |
2: 31,924,385 (GRCm39) |
T1638K |
probably damaging |
Het |
| Nyap1 |
C |
T |
5: 137,733,246 (GRCm39) |
A596T |
probably damaging |
Het |
| Oas1d |
T |
C |
5: 121,053,074 (GRCm39) |
M43T |
probably benign |
Het |
| Or4l15 |
T |
C |
14: 50,198,080 (GRCm39) |
T150A |
probably benign |
Het |
| Or6x1 |
T |
C |
9: 40,098,897 (GRCm39) |
V162A |
probably benign |
Het |
| Or8b42 |
A |
G |
9: 38,342,472 (GRCm39) |
H298R |
probably benign |
Het |
| Pacs1 |
A |
G |
19: 5,186,819 (GRCm39) |
F851S |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,683,800 (GRCm39) |
Q89R |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,838,378 (GRCm39) |
|
probably benign |
Het |
| Plekhb1 |
A |
T |
7: 100,304,602 (GRCm39) |
I34N |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,175,397 (GRCm39) |
E1800G |
probably damaging |
Het |
| Rbm33 |
A |
T |
5: 28,544,010 (GRCm39) |
I89F |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,560,531 (GRCm39) |
E436V |
probably damaging |
Het |
| Slc2a4 |
G |
T |
11: 69,837,217 (GRCm39) |
P73Q |
probably damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,245,912 (GRCm39) |
T311S |
probably benign |
Het |
| Sulf2 |
G |
A |
2: 165,974,678 (GRCm39) |
A2V |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,411,601 (GRCm39) |
|
probably null |
Het |
| Vmn1r26 |
A |
T |
6: 57,985,738 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn2r39 |
T |
A |
7: 9,028,150 (GRCm39) |
H407L |
possibly damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,225,064 (GRCm39) |
Y482F |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,973,655 (GRCm39) |
E376G |
probably benign |
Het |
| Wrn |
C |
A |
8: 33,814,346 (GRCm39) |
G366V |
probably benign |
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 |
|
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'- ACCAAACTTCCTGAACCGTG -3'
(R):5'- TTAATCACTGAGCCATCTCACCATC -3'
Sequencing Primer
(F):5'- TGAACCGTGCCCCACTTG -3'
(R):5'- ACCAAAAAGCGAAGAATGAATTTTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation