Incidental Mutation 'R9398:Cntnap3'
| ID |
710961 |
| 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 # |
R9398 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65051648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 3
(R3W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091554
AA Change: R3W
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: R3W
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
T |
15: 101,034,924 (GRCm39) |
K228* |
probably null |
Het |
| Adrb2 |
T |
C |
18: 62,312,276 (GRCm39) |
D183G |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,216,935 (GRCm39) |
Y134H |
probably damaging |
Het |
| Arid5a |
A |
G |
1: 36,358,073 (GRCm39) |
T217A |
probably benign |
Het |
| Cdnf |
C |
T |
2: 3,522,075 (GRCm39) |
T89I |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,651,825 (GRCm39) |
I1062T |
probably benign |
Het |
| Ctss |
T |
C |
3: 95,454,258 (GRCm39) |
F270S |
possibly damaging |
Het |
| Ddhd1 |
C |
T |
14: 45,895,117 (GRCm39) |
G118R |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,436,912 (GRCm39) |
K69E |
probably benign |
Het |
| Dgkb |
G |
A |
12: 38,189,657 (GRCm39) |
G328D |
probably damaging |
Het |
| Dock1 |
C |
T |
7: 134,774,228 (GRCm39) |
T1852M |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 36,272,356 (GRCm39) |
Y1346H |
probably benign |
Het |
| Gprin1 |
G |
T |
13: 54,887,383 (GRCm39) |
T297N |
probably damaging |
Het |
| Gramd1c |
A |
G |
16: 43,833,381 (GRCm39) |
F187S |
probably damaging |
Het |
| Gse1 |
A |
G |
8: 121,303,074 (GRCm39) |
N1072D |
unknown |
Het |
| Gtf3c6 |
G |
A |
10: 40,133,520 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
T |
A |
2: 104,263,562 (GRCm39) |
T897S |
probably benign |
Het |
| Igsf21 |
T |
A |
4: 139,973,762 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
A |
G |
8: 129,452,605 (GRCm39) |
I757V |
probably damaging |
Het |
| Lamb2 |
C |
T |
9: 108,364,366 (GRCm39) |
R1102W |
possibly damaging |
Het |
| Lzts2 |
T |
G |
19: 45,013,208 (GRCm39) |
C374W |
unknown |
Het |
| Mapk10 |
A |
T |
5: 103,061,152 (GRCm39) |
S462T |
probably damaging |
Het |
| Mtcl1 |
A |
T |
17: 66,755,462 (GRCm39) |
D293E |
possibly damaging |
Het |
| Nf1 |
T |
G |
11: 79,438,018 (GRCm39) |
H109Q |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,783,435 (GRCm39) |
L926P |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 98,009,668 (GRCm39) |
D532N |
probably damaging |
Het |
| Olfm4 |
A |
T |
14: 80,249,249 (GRCm39) |
Y122F |
probably benign |
Het |
| Or52e19b |
T |
A |
7: 103,032,487 (GRCm39) |
T241S |
probably damaging |
Het |
| Or52r1 |
A |
G |
7: 102,537,000 (GRCm39) |
M120T |
probably damaging |
Het |
| Or56a4 |
A |
T |
7: 104,806,006 (GRCm39) |
Y294* |
probably null |
Het |
| Or5g24-ps1 |
T |
C |
2: 85,464,367 (GRCm39) |
V198A |
probably benign |
Het |
| Or5p76 |
T |
C |
7: 108,123,035 (GRCm39) |
T41A |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,160 (GRCm39) |
L61P |
possibly damaging |
Het |
| P2rx2 |
A |
T |
5: 110,488,138 (GRCm39) |
M472K |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,354,941 (GRCm39) |
K487E |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,122 (GRCm39) |
V1108A |
probably benign |
Het |
| Polq |
A |
G |
16: 36,881,394 (GRCm39) |
N1186S |
probably benign |
Het |
| Por |
T |
A |
5: 135,754,597 (GRCm39) |
W6R |
unknown |
Het |
| Prex2 |
G |
A |
1: 11,207,028 (GRCm39) |
V529I |
probably benign |
Het |
| Rgs6 |
T |
G |
12: 82,698,615 (GRCm39) |
S5A |
probably benign |
Het |
| Rp9 |
G |
T |
9: 22,360,082 (GRCm39) |
S171* |
probably null |
Het |
| Sec11c |
T |
A |
18: 65,942,568 (GRCm39) |
I47N |
possibly damaging |
Het |
| Sh2b1 |
GCCACGGGGACCAGCTC |
GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC |
7: 126,066,756 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GACCAGCTCAGCCACGGG |
GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG |
7: 126,066,746 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,940,511 (GRCm39) |
S137P |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,213,651 (GRCm39) |
M692T |
possibly damaging |
Het |
| Sult1d1 |
T |
A |
5: 87,713,954 (GRCm39) |
Q30L |
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,322,243 (GRCm39) |
D15G |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,066,429 (GRCm39) |
S2344G |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,784,404 (GRCm39) |
Y1824* |
probably null |
Het |
| Ubqln5 |
T |
C |
7: 103,777,985 (GRCm39) |
T280A |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,869,934 (GRCm39) |
R342G |
probably benign |
Het |
| Vmn1r185 |
T |
A |
7: 26,311,056 (GRCm39) |
I150F |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,261 (GRCm39) |
M205T |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,896,956 (GRCm39) |
Y321* |
probably null |
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 |
|
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'- TCAGGTTGCAACTGAATAGGG -3'
(R):5'- ATTGTGTGCAGCTGGAGCAG -3'
Sequencing Primer
(F):5'- GAAACCCCATTTTTATTTTTCACCAG -3'
(R):5'- GCAGAGGCTCTGGCTTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation