Incidental Mutation 'R9475:Cntnap3'
ID |
715729 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap3
|
Ensembl Gene |
ENSMUSG00000033063 |
Gene Name |
contactin associated protein-like 3 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R9475 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64946949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 160
(F160S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
AlphaFold |
E9PY62 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091554
AA Change: F160S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089140 Gene: ENSMUSG00000033063 AA Change: F160S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
T |
7: 45,665,892 (GRCm39) |
W243R |
probably damaging |
Het |
Ablim1 |
T |
G |
19: 57,227,612 (GRCm39) |
K18Q |
probably benign |
Het |
Adamts18 |
T |
A |
8: 114,504,570 (GRCm39) |
N174Y |
possibly damaging |
Het |
Afg2a |
T |
C |
3: 37,486,058 (GRCm39) |
V260A |
probably benign |
Het |
Agbl2 |
A |
G |
2: 90,614,437 (GRCm39) |
H23R |
probably benign |
Het |
Akap6 |
T |
G |
12: 53,057,335 (GRCm39) |
Y934D |
probably damaging |
Het |
Alas1 |
C |
T |
9: 106,111,261 (GRCm39) |
S635N |
probably benign |
Het |
Ankrd24 |
A |
G |
10: 81,478,133 (GRCm39) |
|
probably null |
Het |
Atp6v0a4 |
A |
G |
6: 38,037,917 (GRCm39) |
L560P |
probably damaging |
Het |
Cacng1 |
C |
T |
11: 107,607,118 (GRCm39) |
V34M |
possibly damaging |
Het |
Clcn3 |
C |
T |
8: 61,387,551 (GRCm39) |
A233T |
probably damaging |
Het |
Ctnnd2 |
A |
G |
15: 30,881,276 (GRCm39) |
S719G |
probably damaging |
Het |
Exosc2 |
G |
A |
2: 31,564,755 (GRCm39) |
V107I |
probably benign |
Het |
Fam83b |
C |
A |
9: 76,399,085 (GRCm39) |
V673F |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,927,929 (GRCm39) |
F3781L |
probably damaging |
Het |
Gal3st1 |
T |
A |
11: 3,948,660 (GRCm39) |
L289H |
probably damaging |
Het |
Garem1 |
T |
C |
18: 21,281,370 (GRCm39) |
I329V |
probably benign |
Het |
Gli3 |
G |
A |
13: 15,900,296 (GRCm39) |
G1228S |
possibly damaging |
Het |
Gpbp1l1 |
T |
C |
4: 116,431,558 (GRCm39) |
F72S |
possibly damaging |
Het |
Hao1 |
T |
A |
2: 134,390,181 (GRCm39) |
M53L |
probably benign |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Iqcm |
A |
G |
8: 76,480,083 (GRCm39) |
E347G |
probably damaging |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Kcnrg |
A |
G |
14: 61,845,106 (GRCm39) |
I49V |
possibly damaging |
Het |
Lrrc8e |
G |
A |
8: 4,285,346 (GRCm39) |
G524S |
probably benign |
Het |
Lrrn1 |
A |
T |
6: 107,545,261 (GRCm39) |
Y353F |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,739,849 (GRCm39) |
D3701G |
possibly damaging |
Het |
Mtmr2 |
A |
G |
9: 13,716,767 (GRCm39) |
T623A |
probably benign |
Het |
Ndst4 |
C |
A |
3: 125,508,296 (GRCm39) |
S287* |
probably null |
Het |
Ntrk3 |
A |
C |
7: 77,952,480 (GRCm39) |
M579R |
probably benign |
Het |
Oas1a |
G |
A |
5: 121,037,317 (GRCm39) |
L237F |
probably damaging |
Het |
Or2aj4 |
T |
C |
16: 19,385,270 (GRCm39) |
D121G |
probably benign |
Het |
Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Het |
Or7e166 |
T |
C |
9: 19,624,939 (GRCm39) |
M272T |
probably benign |
Het |
Paqr5 |
T |
A |
9: 61,863,507 (GRCm39) |
I272F |
probably damaging |
Het |
Pcdha11 |
T |
A |
18: 37,140,591 (GRCm39) |
V740E |
probably damaging |
Het |
Pdgfra |
A |
C |
5: 75,328,588 (GRCm39) |
N240T |
possibly damaging |
Het |
Plbd2 |
G |
A |
5: 120,632,445 (GRCm39) |
Q186* |
probably null |
Het |
Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
Ppargc1a |
C |
A |
5: 51,653,080 (GRCm39) |
G161C |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,210,476 (GRCm39) |
I166T |
possibly damaging |
Het |
Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
Rpap2 |
T |
A |
5: 107,768,455 (GRCm39) |
L431Q |
probably damaging |
Het |
Rslcan18 |
T |
A |
13: 67,250,128 (GRCm39) |
K160* |
probably null |
Het |
Sema7a |
T |
C |
9: 57,862,188 (GRCm39) |
F180L |
probably benign |
Het |
Sh2d3c |
C |
T |
2: 32,643,039 (GRCm39) |
L741F |
probably damaging |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Skic2 |
A |
T |
17: 35,060,078 (GRCm39) |
D897E |
probably benign |
Het |
Skint6 |
C |
T |
4: 112,664,037 (GRCm39) |
|
probably null |
Het |
Slc35f3 |
T |
C |
8: 127,108,993 (GRCm39) |
S181P |
probably damaging |
Het |
Slc4a9 |
A |
T |
18: 36,662,269 (GRCm39) |
E127V |
probably null |
Het |
Speg |
C |
T |
1: 75,364,735 (GRCm39) |
T372I |
probably damaging |
Het |
Syce1l |
A |
G |
8: 114,381,735 (GRCm39) |
T204A |
probably benign |
Het |
Tas2r138 |
T |
A |
6: 40,589,392 (GRCm39) |
M285L |
probably benign |
Het |
Tbc1d10a |
G |
C |
11: 4,163,604 (GRCm39) |
K285N |
probably damaging |
Het |
Trim9 |
T |
A |
12: 70,393,228 (GRCm39) |
M239L |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,039,761 (GRCm39) |
S1293P |
probably benign |
Het |
Uaca |
C |
T |
9: 60,779,498 (GRCm39) |
T1295M |
possibly damaging |
Het |
Ubald1 |
G |
T |
16: 4,693,433 (GRCm39) |
Q161K |
possibly damaging |
Het |
Ugt1a10 |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
Vps45 |
T |
G |
3: 95,950,237 (GRCm39) |
T231P |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,088,512 (GRCm39) |
D1186E |
probably benign |
Het |
Zfp534 |
G |
A |
4: 147,766,731 (GRCm39) |
T8I |
probably benign |
Het |
Zfp68 |
T |
C |
5: 138,605,517 (GRCm39) |
N269D |
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 |
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 |
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'- GAGTTAGTAGAAGTCTCATAACACTCG -3'
(R):5'- GACAGCCTTTTGGATATAGGCAGAG -3'
Sequencing Primer
(F):5'- GCAGCATCTCATGCAGAT -3'
(R):5'- CCTTTTGGATATAGGCAGAGTGAAC -3'
|
Posted On |
2022-06-15 |