Incidental Mutation 'R5214:Cntnap3'
| ID |
403370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap3
|
| Ensembl Gene |
ENSMUSG00000033063 |
| Gene Name |
contactin associated protein-like 3 |
| Synonyms |
|
| MMRRC Submission |
042787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5214 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 64909824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 760
(H760Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091554
AA Change: H760Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: H760Q
| 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 |
0.2014 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (77/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700061I17Rik |
A |
G |
3: 116,861,424 (GRCm39) |
|
noncoding transcript |
Het |
| 4930449A18Rik |
A |
T |
3: 59,733,305 (GRCm39) |
|
noncoding transcript |
Het |
| Acsbg3 |
T |
C |
17: 57,193,493 (GRCm39) |
V613A |
probably benign |
Het |
| Adgrl1 |
G |
A |
8: 84,642,202 (GRCm39) |
|
probably null |
Het |
| Aldh1l1 |
A |
G |
6: 90,540,399 (GRCm39) |
D228G |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,431,319 (GRCm39) |
I822V |
possibly damaging |
Het |
| Atm |
C |
A |
9: 53,402,327 (GRCm39) |
A1382S |
probably benign |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,577,110 (GRCm39) |
I96F |
possibly damaging |
Het |
| Calhm5 |
A |
G |
10: 33,968,487 (GRCm39) |
S189P |
probably damaging |
Het |
| Ccar1 |
G |
A |
10: 62,606,740 (GRCm39) |
R335C |
probably damaging |
Het |
| Ccdc113 |
T |
C |
8: 96,272,601 (GRCm39) |
I236T |
possibly damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,525,225 (GRCm39) |
S125T |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,394,504 (GRCm39) |
C917R |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,389 (GRCm39) |
D263G |
probably benign |
Het |
| Dennd2d |
G |
A |
3: 106,393,637 (GRCm39) |
|
probably null |
Het |
| Dock4 |
A |
G |
12: 40,754,465 (GRCm39) |
I485V |
probably benign |
Het |
| Dspp |
A |
G |
5: 104,326,364 (GRCm39) |
D909G |
unknown |
Het |
| Eps8 |
A |
T |
6: 137,504,490 (GRCm39) |
M81K |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,917,452 (GRCm39) |
S3491P |
probably damaging |
Het |
| Gm17669 |
C |
T |
18: 67,695,479 (GRCm39) |
T8I |
possibly damaging |
Het |
| Gm5114 |
G |
T |
7: 39,057,792 (GRCm39) |
T609K |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,565,880 (GRCm39) |
N32S |
probably damaging |
Het |
| Herpud1 |
G |
T |
8: 95,117,479 (GRCm39) |
|
probably null |
Het |
| Jcad |
T |
A |
18: 4,674,134 (GRCm39) |
L632Q |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,205,486 (GRCm39) |
L527S |
probably damaging |
Het |
| Klk1b11 |
C |
A |
7: 43,647,266 (GRCm39) |
H67N |
probably benign |
Het |
| Ldhb |
T |
A |
6: 142,441,321 (GRCm39) |
I190F |
probably damaging |
Het |
| Lrrc34 |
A |
T |
3: 30,690,397 (GRCm39) |
C168* |
probably null |
Het |
| Lrtm1 |
C |
T |
14: 28,743,651 (GRCm39) |
H40Y |
possibly damaging |
Het |
| Mageb3 |
T |
C |
2: 121,785,319 (GRCm39) |
M128V |
possibly damaging |
Het |
| Miga2 |
A |
G |
2: 30,261,208 (GRCm39) |
T90A |
probably benign |
Het |
| Msantd5 |
C |
A |
11: 51,125,675 (GRCm39) |
H199Q |
possibly damaging |
Het |
| Ndrg1 |
G |
A |
15: 66,831,239 (GRCm39) |
T24I |
probably damaging |
Het |
| Nos2 |
T |
C |
11: 78,846,267 (GRCm39) |
L878P |
probably damaging |
Het |
| Or11g27 |
T |
G |
14: 50,771,804 (GRCm39) |
*312E |
probably null |
Het |
| Pcdhgb1 |
T |
A |
18: 37,814,478 (GRCm39) |
I323N |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,921 (GRCm39) |
I2537T |
probably damaging |
Het |
| Pnpo |
C |
A |
11: 96,833,295 (GRCm39) |
E68D |
probably benign |
Het |
| Ppp6r1 |
C |
T |
7: 4,646,176 (GRCm39) |
R175Q |
probably benign |
Het |
| Prnp |
C |
T |
2: 131,778,924 (GRCm39) |
T192I |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,205,229 (GRCm39) |
I2148T |
possibly damaging |
Het |
| Raf1 |
G |
T |
6: 115,614,583 (GRCm39) |
F99L |
possibly damaging |
Het |
| Rbks |
A |
G |
5: 31,807,736 (GRCm39) |
|
probably benign |
Het |
| Rlf |
T |
C |
4: 121,007,897 (GRCm39) |
D361G |
probably damaging |
Het |
| Rnpepl1 |
G |
T |
1: 92,847,001 (GRCm39) |
D608Y |
probably benign |
Het |
| Scaf1 |
G |
A |
7: 44,652,662 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
A |
T |
8: 61,825,765 (GRCm39) |
M587L |
probably damaging |
Het |
| Slc22a21 |
A |
T |
11: 53,843,869 (GRCm39) |
S473T |
probably damaging |
Het |
| Syt15 |
A |
G |
14: 33,943,703 (GRCm39) |
D84G |
possibly damaging |
Het |
| Tbc1d19 |
T |
C |
5: 54,007,183 (GRCm39) |
L236P |
probably benign |
Het |
| Tbx2 |
G |
T |
11: 85,729,263 (GRCm39) |
A549S |
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,659,461 (GRCm39) |
C157* |
probably null |
Het |
| Tecta |
C |
T |
9: 42,256,964 (GRCm39) |
V1571I |
probably benign |
Het |
| Them4 |
A |
G |
3: 94,224,818 (GRCm39) |
K65R |
probably benign |
Het |
| Tmc5 |
C |
T |
7: 118,247,155 (GRCm39) |
T553M |
probably damaging |
Het |
| Tmem200c |
C |
T |
17: 69,148,122 (GRCm39) |
A235V |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Tmf1 |
G |
C |
6: 97,144,253 (GRCm39) |
A701G |
possibly damaging |
Het |
| Tomm70a |
G |
A |
16: 56,942,300 (GRCm39) |
G26S |
unknown |
Het |
| Treh |
T |
C |
9: 44,594,173 (GRCm39) |
Y140H |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,325,489 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
T |
C |
9: 107,854,713 (GRCm39) |
|
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,860,166 (GRCm39) |
I299V |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,468,701 (GRCm39) |
K2953T |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,215,395 (GRCm39) |
|
probably benign |
Het |
| Zscan20 |
G |
A |
4: 128,482,109 (GRCm39) |
R518C |
probably benign |
Het |
| Zw10 |
T |
C |
9: 48,975,463 (GRCm39) |
I296T |
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 |
|
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'- AAGATTGCCTCTACTTTTGTGACC -3'
(R):5'- TGTGTATTACTTACAGAGGGATTGC -3'
Sequencing Primer
(F):5'- GACCAAAATAAAGAGACTTGTCTGC -3'
(R):5'- CTTACAGAGGGATTGCATTTATTTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation