Incidental Mutation 'R7719:Cntnap3'
| ID |
595139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap3
|
| Ensembl Gene |
ENSMUSG00000033063 |
| Gene Name |
contactin associated protein-like 3 |
| Synonyms |
|
| MMRRC Submission |
045776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R7719 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 64920591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 593
(Q593*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000091554
AA Change: Q593*
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: Q593*
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (67/68) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
T |
A |
1: 155,562,758 (GRCm39) |
L253H |
probably damaging |
Het |
| Adam11 |
T |
C |
11: 102,663,303 (GRCm39) |
V238A |
probably benign |
Het |
| Amer3 |
A |
T |
1: 34,628,083 (GRCm39) |
H774L |
possibly damaging |
Het |
| Anapc15 |
T |
C |
7: 101,550,236 (GRCm39) |
L150P |
unknown |
Het |
| Ano8 |
G |
T |
8: 71,935,784 (GRCm39) |
T278K |
possibly damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,939,074 (GRCm39) |
K618E |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 149,028,981 (GRCm39) |
S1142L |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,190,813 (GRCm39) |
E471D |
probably damaging |
Het |
| Cks1b |
T |
C |
3: 89,323,635 (GRCm39) |
N45D |
probably benign |
Het |
| Clasrp |
T |
C |
7: 19,321,769 (GRCm39) |
T296A |
probably damaging |
Het |
| Cluap1 |
C |
T |
16: 3,727,467 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
T |
A |
9: 9,704,903 (GRCm39) |
D632V |
probably damaging |
Het |
| Col18a1 |
A |
T |
10: 76,913,846 (GRCm39) |
I457K |
probably benign |
Het |
| Crybb3 |
G |
T |
5: 113,223,834 (GRCm39) |
Q192K |
probably damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,417,383 (GRCm39) |
A123T |
probably benign |
Het |
| Cyp2b13 |
C |
T |
7: 25,795,095 (GRCm39) |
A442V |
probably damaging |
Het |
| Cyp2j9 |
G |
A |
4: 96,457,079 (GRCm39) |
T464I |
probably benign |
Het |
| Cyp4a29 |
G |
A |
4: 115,108,137 (GRCm39) |
G320R |
possibly damaging |
Het |
| Dbp |
T |
C |
7: 45,359,174 (GRCm39) |
I283T |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 105,002,674 (GRCm39) |
I303T |
probably benign |
Het |
| Efcab8 |
T |
A |
2: 153,629,665 (GRCm39) |
V166D |
|
Het |
| Efhc1 |
A |
T |
1: 21,049,744 (GRCm39) |
I535F |
probably benign |
Het |
| Epb41l3 |
A |
G |
17: 69,560,409 (GRCm39) |
I319V |
possibly damaging |
Het |
| Ewsr1 |
T |
C |
11: 5,035,900 (GRCm39) |
T193A |
unknown |
Het |
| Fam227a |
T |
C |
15: 79,504,913 (GRCm39) |
N510S |
possibly damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,284,841 (GRCm39) |
C1221R |
possibly damaging |
Het |
| Gm6741 |
A |
C |
17: 91,544,472 (GRCm39) |
E78D |
probably benign |
Het |
| Gpam |
C |
T |
19: 55,070,102 (GRCm39) |
V385I |
probably damaging |
Het |
| Gpr55 |
A |
G |
1: 85,869,059 (GRCm39) |
V174A |
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,650,813 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,441,080 (GRCm39) |
D5509V |
possibly damaging |
Het |
| Hoxc13 |
A |
T |
15: 102,830,293 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Hunk |
A |
G |
16: 90,293,554 (GRCm39) |
D612G |
probably benign |
Het |
| Igsf3 |
G |
A |
3: 101,342,857 (GRCm39) |
R478H |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,740,486 (GRCm39) |
Q532R |
probably benign |
Het |
| Jph1 |
T |
C |
1: 17,162,215 (GRCm39) |
Y149C |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,544,395 (GRCm39) |
D33G |
probably null |
Het |
| Mex3c |
G |
T |
18: 73,723,061 (GRCm39) |
A385S |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,051,366 (GRCm39) |
S320T |
probably benign |
Het |
| Nsun4 |
A |
T |
4: 115,909,617 (GRCm39) |
N314K |
possibly damaging |
Het |
| Omg |
T |
A |
11: 79,393,059 (GRCm39) |
E266D |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,603 (GRCm39) |
M57K |
probably damaging |
Het |
| Paqr9 |
T |
A |
9: 95,442,829 (GRCm39) |
V273E |
possibly damaging |
Het |
| Phkg1 |
G |
A |
5: 129,902,699 (GRCm39) |
|
probably benign |
Het |
| Plekhm3 |
T |
C |
1: 64,960,901 (GRCm39) |
K452E |
probably benign |
Het |
| Plpbp |
T |
A |
8: 27,535,974 (GRCm39) |
I86N |
|
Het |
| Prl2c1 |
G |
T |
13: 28,035,780 (GRCm39) |
A51S |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,706,466 (GRCm39) |
H108Q |
probably damaging |
Het |
| Prrc2b |
T |
A |
2: 32,107,280 (GRCm39) |
C1614* |
probably null |
Het |
| Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
| Rassf9 |
A |
G |
10: 102,381,461 (GRCm39) |
D281G |
probably benign |
Het |
| Resf1 |
T |
C |
6: 149,228,853 (GRCm39) |
I633T |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,377,496 (GRCm39) |
D61G |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,745,229 (GRCm39) |
S2055P |
possibly damaging |
Het |
| Six5 |
G |
A |
7: 18,830,803 (GRCm39) |
A477T |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,352,469 (GRCm39) |
E129G |
probably damaging |
Het |
| Stard10 |
C |
T |
7: 100,995,320 (GRCm39) |
A78V |
not run |
Het |
| Stard3 |
T |
C |
11: 98,266,502 (GRCm39) |
V127A |
probably benign |
Het |
| Svep1 |
G |
A |
4: 58,068,523 (GRCm39) |
P3088S |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,440,489 (GRCm39) |
D508G |
probably damaging |
Het |
| Tgm2 |
T |
A |
2: 157,985,038 (GRCm39) |
T23S |
probably damaging |
Het |
| Ttll10 |
G |
T |
4: 156,131,665 (GRCm39) |
|
probably null |
Het |
| Vcan |
A |
T |
13: 89,852,738 (GRCm39) |
S741T |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,319,618 (GRCm39) |
N454S |
probably benign |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,460 (GRCm39) |
E276V |
probably damaging |
Het |
| Wnt8a |
T |
C |
18: 34,680,588 (GRCm39) |
W318R |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,001,243 (GRCm39) |
L87H |
probably damaging |
Het |
| Zfp518a |
T |
A |
19: 40,901,212 (GRCm39) |
N380K |
probably benign |
Het |
| Zfp90 |
T |
C |
8: 107,145,725 (GRCm39) |
V19A |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
|
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 |
|
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'- AGGATGATGCAGTATTTCTACTTCG -3'
(R):5'- TATAGGAATGCTCAGCCACACC -3'
Sequencing Primer
(F):5'- CCTGTCATATTGCAGTATACAAG -3'
(R):5'- ATTCCTAACTAGGTGCTGGGAAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation