Incidental Mutation 'R1988:Cntnap3'
| ID |
222896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap3
|
| Ensembl Gene |
ENSMUSG00000033063 |
| Gene Name |
contactin associated protein-like 3 |
| Synonyms |
|
| MMRRC Submission |
040000-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1988 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64906204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 801
(T801A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091554
AA Change: T801A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: T801A
| 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 |
0.1198 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
96% (79/82) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,854,394 (GRCm39) |
D216V |
possibly damaging |
Het |
| 2610021A01Rik |
C |
T |
7: 41,276,081 (GRCm39) |
R595* |
probably null |
Het |
| Adgrl3 |
A |
G |
5: 81,836,414 (GRCm39) |
D724G |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,187,578 (GRCm39) |
F1664S |
possibly damaging |
Het |
| Akt1 |
T |
C |
12: 112,621,585 (GRCm39) |
I404V |
probably benign |
Het |
| Anxa13 |
T |
A |
15: 58,205,344 (GRCm39) |
|
noncoding transcript |
Het |
| Atoh1 |
T |
C |
6: 64,706,617 (GRCm39) |
V104A |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,822,437 (GRCm39) |
D1256G |
probably damaging |
Het |
| C9 |
ATTTT |
ATTT |
15: 6,512,619 (GRCm39) |
|
probably null |
Het |
| Cd164 |
A |
G |
10: 41,399,177 (GRCm39) |
T89A |
probably benign |
Het |
| Cep350 |
G |
C |
1: 155,808,850 (GRCm39) |
N575K |
possibly damaging |
Het |
| Chrm5 |
A |
G |
2: 112,310,597 (GRCm39) |
V173A |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,468,572 (GRCm39) |
V1417A |
possibly damaging |
Het |
| Cntnap5b |
A |
C |
1: 99,999,865 (GRCm39) |
K208Q |
possibly damaging |
Het |
| Crx |
A |
T |
7: 15,603,272 (GRCm39) |
V107D |
possibly damaging |
Het |
| Csrnp2 |
A |
G |
15: 100,387,321 (GRCm39) |
F49S |
probably damaging |
Het |
| Ctbp1 |
A |
G |
5: 33,408,248 (GRCm39) |
L228P |
possibly damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,492,616 (GRCm39) |
D626E |
possibly damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,569 (GRCm39) |
T82A |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,566,793 (GRCm39) |
T2478S |
possibly damaging |
Het |
| Dnah3 |
T |
G |
7: 119,567,182 (GRCm39) |
D2348A |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,343,737 (GRCm39) |
I2379T |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,069,175 (GRCm39) |
I2504T |
probably damaging |
Het |
| Dnase1l2 |
A |
C |
17: 24,660,625 (GRCm39) |
W138G |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,563,061 (GRCm39) |
I855N |
probably damaging |
Het |
| Dsc3 |
T |
A |
18: 20,098,903 (GRCm39) |
N759Y |
possibly damaging |
Het |
| Dtx2 |
C |
T |
5: 136,061,147 (GRCm39) |
R510* |
probably null |
Het |
| Fat4 |
G |
T |
3: 38,941,264 (GRCm39) |
M52I |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,050,239 (GRCm39) |
E4034K |
probably damaging |
Het |
| Fezf2 |
T |
C |
14: 12,344,350 (GRCm38) |
K279R |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,806,861 (GRCm39) |
W1060L |
possibly damaging |
Het |
| G6pc1 |
T |
A |
11: 101,258,768 (GRCm39) |
I49N |
probably damaging |
Het |
| Gars1 |
A |
G |
6: 55,054,757 (GRCm39) |
E688G |
probably null |
Het |
| Gdf11 |
T |
C |
10: 128,721,111 (GRCm39) |
N361S |
probably benign |
Het |
| Gli3 |
A |
C |
13: 15,900,965 (GRCm39) |
M1451L |
probably benign |
Het |
| Heatr3 |
T |
C |
8: 88,876,945 (GRCm39) |
I329T |
probably benign |
Het |
| Herc3 |
T |
G |
6: 58,861,960 (GRCm39) |
|
probably null |
Het |
| Hrnr |
A |
G |
3: 93,239,911 (GRCm39) |
N3383S |
unknown |
Het |
| Igsf3 |
A |
T |
3: 101,338,612 (GRCm39) |
I309F |
probably benign |
Het |
| Kif21b |
C |
T |
1: 136,080,002 (GRCm39) |
R513W |
probably damaging |
Het |
| Kif7 |
G |
T |
7: 79,348,989 (GRCm39) |
H1195Q |
probably benign |
Het |
| Lpcat4 |
T |
C |
2: 112,072,887 (GRCm39) |
V182A |
possibly damaging |
Het |
| Map3k21 |
T |
A |
8: 126,654,294 (GRCm39) |
I371N |
probably benign |
Het |
| Mns1 |
G |
A |
9: 72,356,041 (GRCm39) |
|
probably null |
Het |
| Myo3a |
A |
G |
2: 22,468,140 (GRCm39) |
T465A |
possibly damaging |
Het |
| Nlrc4 |
A |
T |
17: 74,733,938 (GRCm39) |
S992T |
probably benign |
Het |
| Notch4 |
G |
A |
17: 34,806,562 (GRCm39) |
G1833E |
possibly damaging |
Het |
| Or52ad1 |
T |
A |
7: 102,995,316 (GRCm39) |
Y273F |
possibly damaging |
Het |
| Or52n2 |
T |
C |
7: 104,542,110 (GRCm39) |
T242A |
probably damaging |
Het |
| Or5g29 |
G |
A |
2: 85,420,985 (GRCm39) |
V34I |
probably benign |
Het |
| Or5p5 |
A |
T |
7: 107,413,907 (GRCm39) |
I39L |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,993 (GRCm39) |
I194K |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Pik3cd |
T |
A |
4: 149,747,660 (GRCm39) |
T28S |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,795,566 (GRCm39) |
|
probably null |
Het |
| Plk4 |
A |
T |
3: 40,760,252 (GRCm39) |
S383C |
possibly damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,297 (GRCm39) |
L77P |
probably damaging |
Het |
| Ppm1f |
T |
C |
16: 16,741,530 (GRCm39) |
S335P |
probably damaging |
Het |
| Prr16 |
C |
T |
18: 51,436,349 (GRCm39) |
P276L |
probably damaging |
Het |
| Rilp |
A |
G |
11: 75,401,759 (GRCm39) |
|
probably null |
Het |
| Rspry1 |
A |
G |
8: 95,358,682 (GRCm39) |
|
probably null |
Het |
| Serpinb9b |
T |
C |
13: 33,213,542 (GRCm39) |
V33A |
probably benign |
Het |
| Slc4a10 |
C |
A |
2: 62,098,548 (GRCm39) |
Q561K |
probably damaging |
Het |
| Smyd5 |
T |
C |
6: 85,415,118 (GRCm39) |
I42T |
possibly damaging |
Het |
| Stk17b |
T |
C |
1: 53,800,241 (GRCm39) |
N246D |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,646,380 (GRCm39) |
|
probably null |
Het |
| Tecpr1 |
C |
T |
5: 144,141,515 (GRCm39) |
V785M |
possibly damaging |
Het |
| Telo2 |
C |
T |
17: 25,320,642 (GRCm39) |
V756I |
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,943,034 (GRCm39) |
R602H |
probably benign |
Het |
| Timeless |
A |
G |
10: 128,080,056 (GRCm39) |
T402A |
probably damaging |
Het |
| Tnfaip2 |
T |
A |
12: 111,416,325 (GRCm39) |
|
probably null |
Het |
| Trgc3 |
C |
A |
13: 19,445,164 (GRCm39) |
F37L |
probably damaging |
Het |
| Trim5 |
A |
G |
7: 103,914,828 (GRCm39) |
S414P |
probably damaging |
Het |
| Txnip |
A |
G |
3: 96,467,066 (GRCm39) |
T247A |
possibly damaging |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,050 (GRCm39) |
T239S |
probably damaging |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,212 (GRCm39) |
E234D |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,887,480 (GRCm39) |
N982K |
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 |
|
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 |
|
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'- GAGTATCTCAAGACTCGGGTC -3'
(R):5'- GTTTCTTCTGAAAATCAAGACACCC -3'
Sequencing Primer
(F):5'- TATCTCAAGACTCGGGTCAGGATC -3'
(R):5'- TAGGTAAGTAGCCATACCCTCTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation