Incidental Mutation 'R3804:Cntn5'
ID |
274502 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn5
|
Ensembl Gene |
ENSMUSG00000039488 |
Gene Name |
contactin 5 |
Synonyms |
A830025P08Rik, 6720426O10Rik, NB-2, LOC244683 |
MMRRC Submission |
040879-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3804 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
9660896-10904780 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 9781668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074133]
[ENSMUST00000160216]
[ENSMUST00000162484]
[ENSMUST00000179049]
|
AlphaFold |
P68500 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074133
|
SMART Domains |
Protein: ENSMUSP00000073769 Gene: ENSMUSG00000039488
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
IGc2
|
113 |
179 |
1.11e-10 |
SMART |
IG
|
201 |
289 |
4.82e-6 |
SMART |
IGc2
|
312 |
375 |
1.4e-16 |
SMART |
IGc2
|
401 |
464 |
8.97e-15 |
SMART |
IGc2
|
493 |
557 |
4.96e-8 |
SMART |
IG
|
577 |
667 |
2.13e-7 |
SMART |
FN3
|
670 |
756 |
1.01e-11 |
SMART |
FN3
|
773 |
859 |
9.19e-1 |
SMART |
FN3
|
875 |
958 |
3.99e-10 |
SMART |
FN3
|
974 |
1053 |
1.68e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160216
|
SMART Domains |
Protein: ENSMUSP00000124327 Gene: ENSMUSG00000039488
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
IGc2
|
113 |
179 |
1.11e-10 |
SMART |
IG
|
201 |
289 |
4.82e-6 |
SMART |
IGc2
|
312 |
375 |
1.4e-16 |
SMART |
IGc2
|
401 |
464 |
8.97e-15 |
SMART |
IGc2
|
493 |
557 |
4.96e-8 |
SMART |
IG
|
577 |
667 |
2.13e-7 |
SMART |
FN3
|
670 |
756 |
1.01e-11 |
SMART |
FN3
|
773 |
859 |
9.19e-1 |
SMART |
FN3
|
875 |
958 |
3.99e-10 |
SMART |
FN3
|
974 |
1053 |
1.68e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162484
|
SMART Domains |
Protein: ENSMUSP00000124214 Gene: ENSMUSG00000039488
Domain | Start | End | E-Value | Type |
IG_like
|
10 |
84 |
1.12e2 |
SMART |
IGc2
|
107 |
170 |
1.4e-16 |
SMART |
IGc2
|
196 |
259 |
8.97e-15 |
SMART |
IGc2
|
288 |
352 |
4.96e-8 |
SMART |
IG
|
372 |
462 |
2.13e-7 |
SMART |
FN3
|
465 |
551 |
1.01e-11 |
SMART |
FN3
|
568 |
654 |
9.19e-1 |
SMART |
FN3
|
670 |
753 |
3.99e-10 |
SMART |
FN3
|
769 |
848 |
1.68e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179049
|
SMART Domains |
Protein: ENSMUSP00000135903 Gene: ENSMUSG00000039488
Domain | Start | End | E-Value | Type |
IG_like
|
10 |
84 |
1.12e2 |
SMART |
IGc2
|
107 |
170 |
1.4e-16 |
SMART |
IGc2
|
196 |
259 |
8.97e-15 |
SMART |
IGc2
|
288 |
352 |
4.96e-8 |
SMART |
IG
|
372 |
462 |
2.13e-7 |
SMART |
FN3
|
465 |
551 |
1.01e-11 |
SMART |
FN3
|
568 |
654 |
9.19e-1 |
SMART |
FN3
|
670 |
753 |
3.99e-10 |
SMART |
FN3
|
769 |
848 |
1.68e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (67/67) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] PHENOTYPE: Homozygous null mice are viable, fertile, and less susceptible to audiogenic seizures. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
C |
T |
8: 79,974,922 (GRCm39) |
E54K |
probably benign |
Het |
Adgra1 |
A |
G |
7: 139,425,510 (GRCm39) |
T8A |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,596,629 (GRCm39) |
Y954C |
probably damaging |
Het |
AU021092 |
A |
C |
16: 5,034,626 (GRCm39) |
F199V |
possibly damaging |
Het |
Bahcc1 |
C |
T |
11: 120,174,184 (GRCm39) |
P1648L |
probably benign |
Het |
Cacna1s |
T |
A |
1: 136,034,756 (GRCm39) |
C1319S |
possibly damaging |
Het |
Capn13 |
G |
A |
17: 73,646,396 (GRCm39) |
P339L |
probably benign |
Het |
Ccdc39 |
A |
T |
3: 33,874,044 (GRCm39) |
M596K |
probably damaging |
Het |
Cfap418 |
A |
G |
4: 10,898,014 (GRCm39) |
T199A |
probably benign |
Het |
Cyth4 |
A |
G |
15: 78,494,002 (GRCm39) |
K159E |
probably damaging |
Het |
Dgkz |
C |
A |
2: 91,769,975 (GRCm39) |
R563L |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,889,621 (GRCm39) |
E718G |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,403,048 (GRCm39) |
L1416P |
probably damaging |
Het |
Dstyk |
G |
A |
1: 132,377,464 (GRCm39) |
A110T |
probably damaging |
Het |
Eif1 |
A |
G |
11: 100,211,650 (GRCm39) |
K95E |
probably damaging |
Het |
Espnl |
A |
G |
1: 91,249,943 (GRCm39) |
D30G |
probably benign |
Het |
Gast |
T |
C |
11: 100,227,636 (GRCm39) |
S73P |
probably damaging |
Het |
Gmppb |
T |
C |
9: 107,927,773 (GRCm39) |
Y176H |
probably damaging |
Het |
Grap2 |
A |
G |
15: 80,507,947 (GRCm39) |
T4A |
possibly damaging |
Het |
Grm8 |
T |
G |
6: 28,125,635 (GRCm39) |
N164H |
possibly damaging |
Het |
Gstm3 |
G |
A |
3: 107,871,551 (GRCm39) |
T210I |
probably benign |
Het |
Gtf3c3 |
A |
G |
1: 54,463,166 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
A |
G |
2: 31,242,897 (GRCm39) |
|
probably null |
Het |
Icam2 |
A |
G |
11: 106,271,648 (GRCm39) |
L94P |
probably damaging |
Het |
Iqcm |
C |
A |
8: 76,396,021 (GRCm39) |
T188K |
possibly damaging |
Het |
Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
Kank4 |
A |
G |
4: 98,668,370 (GRCm39) |
S26P |
probably damaging |
Het |
Lgr4 |
A |
G |
2: 109,838,542 (GRCm39) |
K498E |
probably benign |
Het |
Meltf |
A |
G |
16: 31,703,816 (GRCm39) |
H181R |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,450,347 (GRCm39) |
D511G |
probably null |
Het |
Nhlrc3 |
A |
G |
3: 53,366,052 (GRCm39) |
V147A |
possibly damaging |
Het |
Nrap |
C |
T |
19: 56,310,211 (GRCm39) |
D1595N |
probably damaging |
Het |
Or1e16 |
T |
C |
11: 73,286,776 (GRCm39) |
Q24R |
probably benign |
Het |
Or5p4 |
A |
T |
7: 107,680,378 (GRCm39) |
I126F |
probably damaging |
Het |
Or6c212 |
T |
A |
10: 129,558,918 (GRCm39) |
D165V |
possibly damaging |
Het |
Or6n2 |
T |
A |
1: 173,897,474 (GRCm39) |
N203K |
probably damaging |
Het |
Pak3 |
G |
A |
X: 142,492,727 (GRCm39) |
V87I |
probably damaging |
Het |
Pgm2l1 |
T |
C |
7: 99,901,474 (GRCm39) |
V121A |
probably benign |
Het |
Phf19 |
A |
G |
2: 34,789,670 (GRCm39) |
L350P |
probably damaging |
Het |
Phf8 |
T |
C |
X: 150,355,572 (GRCm39) |
S512P |
possibly damaging |
Het |
Phkb |
G |
T |
8: 86,648,858 (GRCm39) |
E225* |
probably null |
Het |
Pif1 |
T |
A |
9: 65,495,588 (GRCm39) |
V166E |
probably damaging |
Het |
Plaa |
T |
C |
4: 94,458,125 (GRCm39) |
D615G |
probably damaging |
Het |
Prpf4b |
T |
C |
13: 35,067,665 (GRCm39) |
|
probably benign |
Het |
Rxra |
T |
C |
2: 27,646,272 (GRCm39) |
C374R |
probably damaging |
Het |
Septin3 |
T |
C |
15: 82,170,630 (GRCm39) |
|
probably benign |
Het |
Skint4 |
G |
T |
4: 111,975,378 (GRCm39) |
V113L |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Slc22a15 |
C |
T |
3: 101,804,590 (GRCm39) |
G145D |
probably damaging |
Het |
Slc28a1 |
A |
T |
7: 80,775,969 (GRCm39) |
I222F |
probably damaging |
Het |
Slc43a2 |
T |
C |
11: 75,454,424 (GRCm39) |
L323P |
probably benign |
Het |
Sorbs3 |
A |
G |
14: 70,436,800 (GRCm39) |
|
probably benign |
Het |
Spink10 |
C |
T |
18: 62,786,485 (GRCm39) |
|
probably benign |
Het |
Suclg2 |
A |
T |
6: 95,474,649 (GRCm39) |
I372N |
probably damaging |
Het |
Sun1 |
C |
A |
5: 139,211,117 (GRCm39) |
C164* |
probably null |
Het |
Tax1bp1 |
T |
C |
6: 52,719,770 (GRCm39) |
F453L |
probably benign |
Het |
Tmem54 |
A |
G |
4: 129,002,013 (GRCm39) |
N9S |
probably benign |
Het |
Tmx4 |
A |
G |
2: 134,462,497 (GRCm39) |
W145R |
probably damaging |
Het |
Top1 |
A |
G |
2: 160,544,688 (GRCm39) |
H268R |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,641,075 (GRCm39) |
L13598P |
probably damaging |
Het |
Vmn1r40 |
A |
G |
6: 89,691,991 (GRCm39) |
I269M |
probably benign |
Het |
Wdr7 |
G |
T |
18: 63,853,907 (GRCm39) |
R80L |
probably benign |
Het |
Zap70 |
A |
T |
1: 36,810,223 (GRCm39) |
Q111L |
possibly damaging |
Het |
Zfp808 |
T |
A |
13: 62,319,897 (GRCm39) |
H375Q |
probably damaging |
Het |
Zkscan2 |
A |
T |
7: 123,094,365 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Cntn5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00742:Cntn5
|
APN |
9 |
9,976,302 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01118:Cntn5
|
APN |
9 |
9,831,565 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01328:Cntn5
|
APN |
9 |
9,781,773 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01445:Cntn5
|
APN |
9 |
9,693,489 (GRCm39) |
splice site |
probably benign |
|
IGL01505:Cntn5
|
APN |
9 |
9,706,092 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01556:Cntn5
|
APN |
9 |
9,673,913 (GRCm39) |
missense |
probably benign |
|
IGL01804:Cntn5
|
APN |
9 |
9,831,542 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02173:Cntn5
|
APN |
9 |
9,748,401 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02250:Cntn5
|
APN |
9 |
10,145,336 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02366:Cntn5
|
APN |
9 |
9,984,060 (GRCm39) |
splice site |
probably benign |
|
IGL02565:Cntn5
|
APN |
9 |
10,145,343 (GRCm39) |
nonsense |
probably null |
|
IGL02593:Cntn5
|
APN |
9 |
9,833,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02743:Cntn5
|
APN |
9 |
9,984,115 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02976:Cntn5
|
APN |
9 |
10,419,104 (GRCm39) |
unclassified |
probably benign |
|
IGL03103:Cntn5
|
APN |
9 |
9,972,817 (GRCm39) |
splice site |
probably benign |
|
IGL03114:Cntn5
|
APN |
9 |
9,748,457 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03156:Cntn5
|
APN |
9 |
9,673,882 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02802:Cntn5
|
UTSW |
9 |
10,048,683 (GRCm39) |
splice site |
probably null |
|
R0243:Cntn5
|
UTSW |
9 |
9,781,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R0385:Cntn5
|
UTSW |
9 |
9,972,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R0541:Cntn5
|
UTSW |
9 |
9,673,407 (GRCm39) |
splice site |
probably benign |
|
R0827:Cntn5
|
UTSW |
9 |
9,666,943 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1029:Cntn5
|
UTSW |
9 |
9,831,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R1440:Cntn5
|
UTSW |
9 |
10,145,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R1463:Cntn5
|
UTSW |
9 |
9,673,801 (GRCm39) |
critical splice donor site |
probably null |
|
R1536:Cntn5
|
UTSW |
9 |
9,976,321 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1746:Cntn5
|
UTSW |
9 |
9,831,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R1761:Cntn5
|
UTSW |
9 |
10,172,059 (GRCm39) |
missense |
probably benign |
0.01 |
R1764:Cntn5
|
UTSW |
9 |
9,673,988 (GRCm39) |
missense |
probably benign |
|
R1859:Cntn5
|
UTSW |
9 |
9,972,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Cntn5
|
UTSW |
9 |
9,984,082 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1888:Cntn5
|
UTSW |
9 |
9,984,082 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1950:Cntn5
|
UTSW |
9 |
9,781,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R2143:Cntn5
|
UTSW |
9 |
9,748,420 (GRCm39) |
missense |
probably damaging |
0.98 |
R2145:Cntn5
|
UTSW |
9 |
9,748,420 (GRCm39) |
missense |
probably damaging |
0.98 |
R2437:Cntn5
|
UTSW |
9 |
10,048,758 (GRCm39) |
nonsense |
probably null |
|
R2440:Cntn5
|
UTSW |
9 |
10,171,960 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2504:Cntn5
|
UTSW |
9 |
10,172,126 (GRCm39) |
missense |
probably benign |
|
R3054:Cntn5
|
UTSW |
9 |
10,419,076 (GRCm39) |
missense |
probably benign |
0.30 |
R3056:Cntn5
|
UTSW |
9 |
10,419,076 (GRCm39) |
missense |
probably benign |
0.30 |
R4164:Cntn5
|
UTSW |
9 |
9,781,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R4444:Cntn5
|
UTSW |
9 |
9,704,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R4472:Cntn5
|
UTSW |
9 |
10,048,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R4576:Cntn5
|
UTSW |
9 |
9,673,297 (GRCm39) |
missense |
probably benign |
0.10 |
R4624:Cntn5
|
UTSW |
9 |
9,704,809 (GRCm39) |
nonsense |
probably null |
|
R4652:Cntn5
|
UTSW |
9 |
9,704,917 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4664:Cntn5
|
UTSW |
9 |
10,144,214 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4679:Cntn5
|
UTSW |
9 |
9,970,536 (GRCm39) |
missense |
probably benign |
0.09 |
R4829:Cntn5
|
UTSW |
9 |
9,976,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R4929:Cntn5
|
UTSW |
9 |
9,976,400 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5211:Cntn5
|
UTSW |
9 |
9,704,894 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5406:Cntn5
|
UTSW |
9 |
9,833,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R5468:Cntn5
|
UTSW |
9 |
9,743,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R5584:Cntn5
|
UTSW |
9 |
9,661,457 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5688:Cntn5
|
UTSW |
9 |
9,748,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R5762:Cntn5
|
UTSW |
9 |
9,748,394 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6141:Cntn5
|
UTSW |
9 |
10,144,162 (GRCm39) |
missense |
probably benign |
|
R6147:Cntn5
|
UTSW |
9 |
10,012,894 (GRCm39) |
missense |
probably damaging |
0.98 |
R6325:Cntn5
|
UTSW |
9 |
10,144,328 (GRCm39) |
splice site |
probably null |
|
R6377:Cntn5
|
UTSW |
9 |
9,743,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R6774:Cntn5
|
UTSW |
9 |
10,144,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Cntn5
|
UTSW |
9 |
10,904,704 (GRCm39) |
start gained |
probably benign |
|
R7252:Cntn5
|
UTSW |
9 |
9,831,640 (GRCm39) |
missense |
probably benign |
0.00 |
R7363:Cntn5
|
UTSW |
9 |
10,172,021 (GRCm39) |
missense |
probably benign |
0.00 |
R7401:Cntn5
|
UTSW |
9 |
9,833,466 (GRCm39) |
missense |
probably benign |
0.13 |
R7488:Cntn5
|
UTSW |
9 |
9,970,570 (GRCm39) |
missense |
probably damaging |
0.99 |
R7548:Cntn5
|
UTSW |
9 |
9,673,415 (GRCm39) |
splice site |
probably null |
|
R7662:Cntn5
|
UTSW |
9 |
9,661,390 (GRCm39) |
missense |
probably benign |
0.17 |
R7718:Cntn5
|
UTSW |
9 |
9,984,133 (GRCm39) |
missense |
probably benign |
|
R7719:Cntn5
|
UTSW |
9 |
9,704,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R7788:Cntn5
|
UTSW |
9 |
9,704,934 (GRCm39) |
missense |
probably benign |
0.01 |
R7864:Cntn5
|
UTSW |
9 |
9,984,182 (GRCm39) |
missense |
probably damaging |
0.98 |
R7937:Cntn5
|
UTSW |
9 |
9,748,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R8117:Cntn5
|
UTSW |
9 |
9,673,955 (GRCm39) |
missense |
probably benign |
0.33 |
R8159:Cntn5
|
UTSW |
9 |
10,145,386 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8349:Cntn5
|
UTSW |
9 |
9,666,840 (GRCm39) |
critical splice donor site |
probably null |
|
R8449:Cntn5
|
UTSW |
9 |
9,666,840 (GRCm39) |
critical splice donor site |
probably null |
|
R8779:Cntn5
|
UTSW |
9 |
10,171,920 (GRCm39) |
missense |
probably benign |
|
R8789:Cntn5
|
UTSW |
9 |
9,673,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R8985:Cntn5
|
UTSW |
9 |
10,171,960 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9370:Cntn5
|
UTSW |
9 |
9,833,520 (GRCm39) |
missense |
probably benign |
0.19 |
R9382:Cntn5
|
UTSW |
9 |
9,673,817 (GRCm39) |
missense |
probably benign |
|
R9781:Cntn5
|
UTSW |
9 |
10,048,686 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Cntn5
|
UTSW |
9 |
10,090,241 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cntn5
|
UTSW |
9 |
9,673,967 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTGCTTCTAAAGAGGTTTGC -3'
(R):5'- AAAACAGGCCCTTTGAATATGC -3'
Sequencing Primer
(F):5'- GCTATATCATCATCTCAAAGGCAAG -3'
(R):5'- CAGGCCCTTTGAATATGCGAAGTTC -3'
|
Posted On |
2015-04-02 |