Incidental Mutation 'IGL02272:Cntnap1'
| ID |
287191 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cntnap1
|
| Ensembl Gene |
ENSMUSG00000017167 |
| Gene Name |
contactin associated protein-like 1 |
| Synonyms |
Nrxn4, NCP1, Caspr, paranodin, p190, shm |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.496)
|
| Stock # |
IGL02272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101065429-101081550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101069142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 199
(V199M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062759]
[ENSMUST00000103109]
|
| AlphaFold |
O54991 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062759
|
| SMART Domains |
Protein: ENSMUSP00000062588
Gene: ENSMUSG00000044052
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
58 |
310 |
4.8e-43 |
PFAM |
|
low complexity region
|
313 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
349 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103109
AA Change: V199M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: V199M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
FA58C
|
25 |
169 |
7.49e-36 |
SMART |
|
LamG
|
196 |
333 |
2.86e-32 |
SMART |
|
LamG
|
382 |
516 |
3.49e-27 |
SMART |
|
EGF
|
544 |
578 |
2.28e0 |
SMART |
|
Blast:FBG
|
580 |
777 |
1e-133 |
BLAST |
|
LamG
|
806 |
940 |
1.95e-25 |
SMART |
|
EGF_like
|
961 |
997 |
6.03e1 |
SMART |
|
low complexity region
|
1032 |
1044 |
N/A |
INTRINSIC |
|
low complexity region
|
1047 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1078 |
N/A |
INTRINSIC |
|
LamG
|
1081 |
1219 |
2.59e-30 |
SMART |
|
4.1m
|
1305 |
1323 |
7.85e-7 |
SMART |
|
low complexity region
|
1333 |
1370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138942
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mutant mice exhibit reduced body size and nervous system defects, including impaired balance, hypoactivity, and ataxia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,757,021 (GRCm39) |
C759* |
probably null |
Het |
| Adgrg6 |
T |
A |
10: 14,344,573 (GRCm39) |
M127L |
probably damaging |
Het |
| Anxa9 |
A |
G |
3: 95,213,205 (GRCm39) |
V47A |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,912,748 (GRCm39) |
D483V |
probably damaging |
Het |
| Arrdc3 |
C |
A |
13: 81,039,769 (GRCm39) |
|
probably benign |
Het |
| Ccdc169 |
A |
G |
3: 55,058,169 (GRCm39) |
E67G |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,780,385 (GRCm39) |
V731D |
possibly damaging |
Het |
| Cdh3 |
G |
T |
8: 107,274,468 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
A |
T |
13: 64,905,225 (GRCm39) |
V852E |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,249,907 (GRCm39) |
S1024T |
probably damaging |
Het |
| Cyp3a25 |
T |
C |
5: 145,930,075 (GRCm39) |
|
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,101,881 (GRCm39) |
V289D |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,811,731 (GRCm39) |
N1439K |
probably benign |
Het |
| Epha6 |
C |
T |
16: 59,639,300 (GRCm39) |
R858Q |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,746,478 (GRCm39) |
F272Y |
probably damaging |
Het |
| Gbf1 |
T |
A |
19: 46,258,242 (GRCm39) |
W846R |
probably damaging |
Het |
| Gtpbp2 |
T |
A |
17: 46,475,707 (GRCm39) |
V152E |
probably benign |
Het |
| Hmces |
A |
G |
6: 87,894,837 (GRCm39) |
|
probably null |
Het |
| Hsph1 |
A |
G |
5: 149,540,995 (GRCm39) |
S852P |
probably benign |
Het |
| Kat6b |
A |
C |
14: 21,676,846 (GRCm39) |
K394Q |
probably damaging |
Het |
| Kdr |
G |
A |
5: 76,122,500 (GRCm39) |
T475I |
probably benign |
Het |
| Klhl25 |
A |
G |
7: 75,516,368 (GRCm39) |
T425A |
probably benign |
Het |
| Klk1b8 |
T |
A |
7: 43,602,217 (GRCm39) |
C50S |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,187,464 (GRCm39) |
Y343C |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,355,768 (GRCm39) |
S953P |
probably benign |
Het |
| Lpin1 |
A |
G |
12: 16,597,601 (GRCm39) |
V681A |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,743,581 (GRCm39) |
T508A |
probably benign |
Het |
| Moxd1 |
T |
A |
10: 24,158,598 (GRCm39) |
Y417* |
probably null |
Het |
| Mthfd1l |
T |
G |
10: 3,991,812 (GRCm39) |
I588S |
probably damaging |
Het |
| Myo5c |
C |
A |
9: 75,173,442 (GRCm39) |
N543K |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,791,883 (GRCm39) |
|
probably benign |
Het |
| Nme8 |
T |
C |
13: 19,842,996 (GRCm39) |
Y393C |
probably damaging |
Het |
| Nr2e1 |
T |
G |
10: 42,443,975 (GRCm39) |
N249T |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,515,898 (GRCm39) |
V45A |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,279,484 (GRCm39) |
G2945W |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,970,589 (GRCm39) |
F393S |
probably damaging |
Het |
| Ppp3cc |
A |
G |
14: 70,473,938 (GRCm39) |
V353A |
probably damaging |
Het |
| Prss16 |
T |
A |
13: 22,187,205 (GRCm39) |
Q455L |
probably damaging |
Het |
| Ptpn6 |
A |
T |
6: 124,698,171 (GRCm39) |
V524E |
probably damaging |
Het |
| Rap1gap |
A |
G |
4: 137,443,877 (GRCm39) |
Y163C |
probably damaging |
Het |
| Rnf31 |
C |
T |
14: 55,836,239 (GRCm39) |
L598F |
probably damaging |
Het |
| Sardh |
T |
G |
2: 27,115,003 (GRCm39) |
D550A |
probably benign |
Het |
| Serpinc1 |
T |
G |
1: 160,827,562 (GRCm39) |
I387S |
probably damaging |
Het |
| Sh3d19 |
A |
T |
3: 86,028,474 (GRCm39) |
D650V |
probably benign |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,750 (GRCm39) |
T196S |
probably damaging |
Het |
| Slc25a46 |
T |
C |
18: 31,716,621 (GRCm39) |
T294A |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,034,756 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
T |
A |
5: 5,727,612 (GRCm39) |
N241I |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,573,594 (GRCm39) |
Y206C |
probably damaging |
Het |
| Tmem259 |
T |
A |
10: 79,814,297 (GRCm39) |
Q322L |
probably damaging |
Het |
| Tnni2 |
C |
A |
7: 141,997,166 (GRCm39) |
Q52K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,565,372 (GRCm39) |
V28285A |
possibly damaging |
Het |
| Uba7 |
T |
A |
9: 107,853,352 (GRCm39) |
S99R |
probably benign |
Het |
| Ubxn2b |
A |
T |
4: 6,216,071 (GRCm39) |
K331N |
probably damaging |
Het |
| Usp50 |
G |
A |
2: 126,611,864 (GRCm39) |
T232I |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,604,973 (GRCm39) |
M95I |
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,604,978 (GRCm39) |
L97Q |
probably damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,763,843 (GRCm39) |
N240I |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,399,901 (GRCm39) |
R383G |
probably benign |
Het |
|
| Other mutations in Cntnap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00684:Cntnap1
|
APN |
11 |
101,075,918 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL00715:Cntnap1
|
APN |
11 |
101,074,031 (GRCm39) |
splice site |
probably benign |
|
|
IGL00792:Cntnap1
|
APN |
11 |
101,069,792 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01063:Cntnap1
|
APN |
11 |
101,072,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01141:Cntnap1
|
APN |
11 |
101,069,633 (GRCm39) |
splice site |
probably benign |
|
|
IGL02184:Cntnap1
|
APN |
11 |
101,069,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02281:Cntnap1
|
APN |
11 |
101,073,080 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02437:Cntnap1
|
APN |
11 |
101,077,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02456:Cntnap1
|
APN |
11 |
101,068,955 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02966:Cntnap1
|
APN |
11 |
101,075,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03126:Cntnap1
|
APN |
11 |
101,067,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03294:Cntnap1
|
APN |
11 |
101,072,508 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Penny
|
UTSW |
11 |
101,077,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4304:Cntnap1
|
UTSW |
11 |
101,080,415 (GRCm39) |
unclassified |
probably benign |
|
|
FR4304:Cntnap1
|
UTSW |
11 |
101,080,407 (GRCm39) |
unclassified |
probably benign |
|
|
FR4342:Cntnap1
|
UTSW |
11 |
101,080,401 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Cntnap1
|
UTSW |
11 |
101,080,419 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Cntnap1
|
UTSW |
11 |
101,080,395 (GRCm39) |
unclassified |
probably benign |
|
|
FR4548:Cntnap1
|
UTSW |
11 |
101,080,419 (GRCm39) |
unclassified |
probably benign |
|
|
FR4548:Cntnap1
|
UTSW |
11 |
101,080,405 (GRCm39) |
unclassified |
probably benign |
|
|
FR4548:Cntnap1
|
UTSW |
11 |
101,080,398 (GRCm39) |
unclassified |
probably benign |
|
|
FR4548:Cntnap1
|
UTSW |
11 |
101,080,420 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Cntnap1
|
UTSW |
11 |
101,080,401 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Cntnap1
|
UTSW |
11 |
101,080,392 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Cntnap1
|
UTSW |
11 |
101,080,407 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Cntnap1
|
UTSW |
11 |
101,080,406 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Cntnap1
|
UTSW |
11 |
101,080,416 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Cntnap1
|
UTSW |
11 |
101,080,395 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Cntnap1
|
UTSW |
11 |
101,080,402 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Cntnap1
|
UTSW |
11 |
101,080,408 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Cntnap1
|
UTSW |
11 |
101,080,414 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Cntnap1
|
UTSW |
11 |
101,080,395 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Cntnap1
|
UTSW |
11 |
101,080,398 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Cntnap1
|
UTSW |
11 |
101,080,411 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4354001:Cntnap1
|
UTSW |
11 |
101,072,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4466001:Cntnap1
|
UTSW |
11 |
101,068,131 (GRCm39) |
missense |
probably benign |
|
|
R0329:Cntnap1
|
UTSW |
11 |
101,079,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0556:Cntnap1
|
UTSW |
11 |
101,074,822 (GRCm39) |
missense |
probably benign |
|
|
R0586:Cntnap1
|
UTSW |
11 |
101,077,840 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0635:Cntnap1
|
UTSW |
11 |
101,074,285 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0789:Cntnap1
|
UTSW |
11 |
101,072,210 (GRCm39) |
splice site |
probably benign |
|
|
R1016:Cntnap1
|
UTSW |
11 |
101,068,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1085:Cntnap1
|
UTSW |
11 |
101,069,662 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1211:Cntnap1
|
UTSW |
11 |
101,075,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Cntnap1
|
UTSW |
11 |
101,071,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Cntnap1
|
UTSW |
11 |
101,071,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Cntnap1
|
UTSW |
11 |
101,071,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1689:Cntnap1
|
UTSW |
11 |
101,079,699 (GRCm39) |
splice site |
probably null |
|
|
R1758:Cntnap1
|
UTSW |
11 |
101,075,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Cntnap1
|
UTSW |
11 |
101,077,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1964:Cntnap1
|
UTSW |
11 |
101,068,850 (GRCm39) |
nonsense |
probably null |
|
|
R1966:Cntnap1
|
UTSW |
11 |
101,071,212 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2070:Cntnap1
|
UTSW |
11 |
101,073,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2088:Cntnap1
|
UTSW |
11 |
101,073,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Cntnap1
|
UTSW |
11 |
101,079,483 (GRCm39) |
missense |
probably benign |
|
|
R3795:Cntnap1
|
UTSW |
11 |
101,077,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4375:Cntnap1
|
UTSW |
11 |
101,073,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Cntnap1
|
UTSW |
11 |
101,068,898 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4832:Cntnap1
|
UTSW |
11 |
101,073,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Cntnap1
|
UTSW |
11 |
101,068,251 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4981:Cntnap1
|
UTSW |
11 |
101,067,159 (GRCm39) |
splice site |
probably null |
|
|
R5008:Cntnap1
|
UTSW |
11 |
101,079,567 (GRCm39) |
nonsense |
probably null |
|
|
R5399:Cntnap1
|
UTSW |
11 |
101,074,142 (GRCm39) |
missense |
probably benign |
|
|
R5507:Cntnap1
|
UTSW |
11 |
101,074,303 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5560:Cntnap1
|
UTSW |
11 |
101,073,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Cntnap1
|
UTSW |
11 |
101,075,944 (GRCm39) |
missense |
probably benign |
|
|
R6038:Cntnap1
|
UTSW |
11 |
101,075,462 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6038:Cntnap1
|
UTSW |
11 |
101,075,462 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6242:Cntnap1
|
UTSW |
11 |
101,073,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Cntnap1
|
UTSW |
11 |
101,075,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6392:Cntnap1
|
UTSW |
11 |
101,077,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6803:Cntnap1
|
UTSW |
11 |
101,068,060 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6939:Cntnap1
|
UTSW |
11 |
101,077,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6944:Cntnap1
|
UTSW |
11 |
101,073,730 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7152:Cntnap1
|
UTSW |
11 |
101,068,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Cntnap1
|
UTSW |
11 |
101,079,460 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7347:Cntnap1
|
UTSW |
11 |
101,076,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Cntnap1
|
UTSW |
11 |
101,069,121 (GRCm39) |
missense |
probably benign |
|
|
R7980:Cntnap1
|
UTSW |
11 |
101,079,719 (GRCm39) |
missense |
probably benign |
|
|
R8307:Cntnap1
|
UTSW |
11 |
101,079,702 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8386:Cntnap1
|
UTSW |
11 |
101,073,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8403:Cntnap1
|
UTSW |
11 |
101,068,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8826:Cntnap1
|
UTSW |
11 |
101,077,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9103:Cntnap1
|
UTSW |
11 |
101,072,094 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9279:Cntnap1
|
UTSW |
11 |
101,072,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9284:Cntnap1
|
UTSW |
11 |
101,068,137 (GRCm39) |
missense |
probably benign |
|
|
R9386:Cntnap1
|
UTSW |
11 |
101,076,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Cntnap1
|
UTSW |
11 |
101,072,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9697:Cntnap1
|
UTSW |
11 |
101,068,828 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
RF042:Cntnap1
|
UTSW |
11 |
101,071,131 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF048:Cntnap1
|
UTSW |
11 |
101,080,389 (GRCm39) |
unclassified |
probably benign |
|
|
RF048:Cntnap1
|
UTSW |
11 |
101,071,131 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF049:Cntnap1
|
UTSW |
11 |
101,080,422 (GRCm39) |
unclassified |
probably benign |
|
|
RF049:Cntnap1
|
UTSW |
11 |
101,080,418 (GRCm39) |
unclassified |
probably benign |
|
|
RF050:Cntnap1
|
UTSW |
11 |
101,080,418 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Cntnap1
|
UTSW |
11 |
101,073,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation