Incidental Mutation 'R6038:Cntnap1'
| ID |
486689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap1
|
| Ensembl Gene |
ENSMUSG00000017167 |
| Gene Name |
contactin associated protein-like 1 |
| Synonyms |
Nrxn4, NCP1, Caspr, paranodin, p190, shm |
| MMRRC Submission |
044208-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.496)
|
| Stock # |
R6038 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101065429-101081550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101075462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 880
(R880Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103109]
|
| AlphaFold |
O54991 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103109
AA Change: R880Q
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: R880Q
| 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 |
|
| Meta Mutation Damage Score |
0.1204 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (65/65) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
G |
17: 46,615,286 (GRCm39) |
C1327R |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,049,608 (GRCm39) |
T704A |
probably benign |
Het |
| Adgra3 |
A |
T |
5: 50,156,487 (GRCm39) |
Y414* |
probably null |
Het |
| Adgrf1 |
T |
C |
17: 43,606,100 (GRCm39) |
S75P |
probably benign |
Het |
| Akirin1 |
A |
G |
4: 123,643,956 (GRCm39) |
M1T |
probably null |
Het |
| Antxr1 |
C |
A |
6: 87,263,982 (GRCm39) |
|
probably null |
Het |
| Arid1b |
A |
T |
17: 5,386,957 (GRCm39) |
Y1470F |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,465,308 (GRCm39) |
D649G |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,575,200 (GRCm39) |
V615A |
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,013,140 (GRCm39) |
T971A |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,497,414 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
G |
A |
13: 113,455,153 (GRCm39) |
V400M |
possibly damaging |
Het |
| Defb19 |
T |
G |
2: 152,418,187 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 117,946,715 (GRCm39) |
D3045G |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,783,350 (GRCm39) |
|
probably null |
Het |
| Egln3 |
A |
G |
12: 54,228,476 (GRCm39) |
V210A |
probably damaging |
Het |
| Epb41l4a |
T |
C |
18: 33,987,388 (GRCm39) |
S330G |
probably benign |
Het |
| Epha7 |
G |
A |
4: 28,821,521 (GRCm39) |
E229K |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Garin4 |
C |
T |
1: 190,894,919 (GRCm39) |
E575K |
probably damaging |
Het |
| Garin5a |
C |
T |
7: 44,149,719 (GRCm39) |
R147W |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,756,594 (GRCm39) |
|
probably null |
Het |
| Gm29587 |
G |
A |
12: 74,269,309 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
T |
A |
6: 100,781,555 (GRCm39) |
L410Q |
probably damaging |
Het |
| H2-M10.3 |
C |
A |
17: 36,679,287 (GRCm39) |
C6F |
probably benign |
Het |
| Hecw1 |
G |
T |
13: 14,520,647 (GRCm39) |
Q197K |
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,154,373 (GRCm39) |
M778V |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,325,663 (GRCm39) |
T4691A |
probably benign |
Het |
| Larp1 |
A |
G |
11: 57,932,431 (GRCm39) |
E204G |
possibly damaging |
Het |
| Lrp12 |
A |
C |
15: 39,735,776 (GRCm39) |
W738G |
probably damaging |
Het |
| Mdga2 |
A |
T |
12: 66,676,827 (GRCm39) |
D488E |
probably damaging |
Het |
| Mrc1 |
G |
C |
2: 14,261,882 (GRCm39) |
W290C |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,027,824 (GRCm39) |
S679T |
probably benign |
Het |
| Nhp2 |
T |
C |
11: 51,510,912 (GRCm39) |
V55A |
probably benign |
Het |
| Nrm |
T |
C |
17: 36,172,397 (GRCm39) |
S41P |
possibly damaging |
Het |
| Or10ag54 |
T |
A |
2: 87,099,611 (GRCm39) |
I141N |
possibly damaging |
Het |
| Or11g25 |
T |
C |
14: 50,723,677 (GRCm39) |
L254P |
probably damaging |
Het |
| Or7e165 |
A |
G |
9: 19,694,858 (GRCm39) |
Y143C |
probably benign |
Het |
| Osbpl7 |
C |
T |
11: 96,941,542 (GRCm39) |
P22S |
probably benign |
Het |
| Pebp1 |
A |
T |
5: 117,422,170 (GRCm39) |
L124Q |
probably benign |
Het |
| Pfkp |
G |
T |
13: 6,648,005 (GRCm39) |
H524N |
probably benign |
Het |
| Pnmt |
G |
A |
11: 98,278,594 (GRCm39) |
D187N |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,920,445 (GRCm39) |
I355K |
possibly damaging |
Het |
| Prom1 |
A |
T |
5: 44,159,135 (GRCm39) |
Y836N |
probably damaging |
Het |
| Rubcnl |
T |
C |
14: 75,269,410 (GRCm39) |
S23P |
probably benign |
Het |
| Sap130 |
T |
A |
18: 31,813,539 (GRCm39) |
I532N |
probably damaging |
Het |
| Serpina1e |
A |
T |
12: 103,913,095 (GRCm39) |
|
probably null |
Het |
| Slc12a3 |
T |
G |
8: 95,057,100 (GRCm39) |
S124R |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,927,651 (GRCm39) |
T317A |
probably benign |
Het |
| Smarcad1 |
T |
C |
6: 65,050,232 (GRCm39) |
S284P |
possibly damaging |
Het |
| Spag9 |
C |
G |
11: 94,002,918 (GRCm39) |
R724G |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,395,103 (GRCm39) |
|
probably null |
Het |
| Steap3 |
A |
G |
1: 120,169,371 (GRCm39) |
Y271H |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,925,158 (GRCm39) |
Q44* |
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,444 (GRCm39) |
C195S |
possibly damaging |
Het |
| Tcl1b4 |
T |
C |
12: 105,168,766 (GRCm39) |
M10T |
possibly damaging |
Het |
| Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
| Vmn2r60 |
C |
A |
7: 41,844,386 (GRCm39) |
A583D |
probably benign |
Het |
| Wdhd1 |
T |
C |
14: 47,501,037 (GRCm39) |
Q455R |
possibly damaging |
Het |
| Wdr17 |
A |
G |
8: 55,085,346 (GRCm39) |
|
probably null |
Het |
| Xbp1 |
T |
C |
11: 5,474,798 (GRCm39) |
L233P |
probably benign |
Het |
| Zbtb17 |
A |
G |
4: 141,191,752 (GRCm39) |
E288G |
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 |
|
IGL02272:Cntnap1
|
APN |
11 |
101,069,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCATCAGGTGAGGAGATTG -3'
(R):5'- TTAGAACATGGGCTTCCTGG -3'
Sequencing Primer
(F):5'- CCCATCAGGTGAGGAGATTGTATTG -3'
(R):5'- GCTTCCTGGAAAAATGGCCCATG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation