Incidental Mutation 'IGL01505:Cntn5'
ID |
89004 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cntn5
|
Ensembl Gene |
ENSMUSG00000039488 |
Gene Name |
contactin 5 |
Synonyms |
A830025P08Rik, 6720426O10Rik, NB-2, LOC244683 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01505
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
9660896-10904780 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 9706092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 574
(V574M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074133]
[ENSMUST00000160216]
[ENSMUST00000162484]
[ENSMUST00000179049]
|
AlphaFold |
P68500 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074133
AA Change: V779M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073769 Gene: ENSMUSG00000039488 AA Change: V779M
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 damaging
Transcript: ENSMUST00000160216
AA Change: V779M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124327 Gene: ENSMUSG00000039488 AA Change: V779M
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 damaging
Transcript: ENSMUST00000162484
AA Change: V574M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124214 Gene: ENSMUSG00000039488 AA Change: V574M
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 damaging
Transcript: ENSMUST00000179049
AA Change: V574M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135903 Gene: ENSMUSG00000039488 AA Change: V574M
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 |
|
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 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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930546C10Rik |
T |
C |
18: 69,080,418 (GRCm39) |
|
probably null |
Het |
A2m |
A |
G |
6: 121,653,906 (GRCm39) |
N1413S |
possibly damaging |
Het |
Aadacl4fm4 |
C |
T |
4: 144,401,188 (GRCm39) |
V99M |
probably damaging |
Het |
Arhgap45 |
A |
T |
10: 79,862,376 (GRCm39) |
N488Y |
probably benign |
Het |
Arid4a |
G |
A |
12: 71,083,889 (GRCm39) |
D94N |
probably damaging |
Het |
Atp7a |
A |
G |
X: 105,153,436 (GRCm39) |
K1114E |
probably damaging |
Het |
Atp8a2 |
C |
T |
14: 60,265,512 (GRCm39) |
V275M |
probably benign |
Het |
Ceacam12 |
T |
C |
7: 17,801,357 (GRCm39) |
V112A |
probably damaging |
Het |
Cep295 |
T |
A |
9: 15,229,345 (GRCm39) |
D2256V |
probably benign |
Het |
Chid1 |
A |
T |
7: 141,093,807 (GRCm39) |
|
probably null |
Het |
Clcn5 |
A |
T |
X: 7,036,678 (GRCm39) |
L268* |
probably null |
Het |
Cldn17 |
A |
G |
16: 88,303,591 (GRCm39) |
I46T |
possibly damaging |
Het |
Cnot1 |
A |
T |
8: 96,455,346 (GRCm39) |
I2025N |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,318,619 (GRCm39) |
C1373S |
unknown |
Het |
Col9a1 |
A |
G |
1: 24,224,205 (GRCm39) |
N129S |
unknown |
Het |
Cp |
C |
T |
3: 20,031,356 (GRCm39) |
P598S |
possibly damaging |
Het |
Cpb1 |
G |
A |
3: 20,320,410 (GRCm39) |
R150C |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,115,917 (GRCm39) |
|
probably null |
Het |
Dnajb7 |
T |
C |
15: 81,291,692 (GRCm39) |
E215G |
possibly damaging |
Het |
Dock1 |
G |
A |
7: 134,760,239 (GRCm39) |
R1634Q |
possibly damaging |
Het |
Dop1b |
A |
G |
16: 93,554,004 (GRCm39) |
T313A |
possibly damaging |
Het |
Fgd2 |
T |
A |
17: 29,585,971 (GRCm39) |
V185E |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,902,003 (GRCm38) |
|
probably null |
Het |
Fzd7 |
A |
G |
1: 59,523,062 (GRCm39) |
E315G |
probably benign |
Het |
Gjd3 |
T |
A |
11: 102,691,552 (GRCm39) |
K150N |
probably benign |
Het |
Gpihbp1 |
C |
T |
15: 75,469,977 (GRCm39) |
|
probably benign |
Het |
Gpr160 |
T |
C |
3: 30,950,002 (GRCm39) |
S25P |
possibly damaging |
Het |
Grsf1 |
G |
A |
5: 88,820,608 (GRCm39) |
R58* |
probably null |
Het |
Ifit1 |
T |
A |
19: 34,625,854 (GRCm39) |
M330K |
probably benign |
Het |
Igkv1-122 |
T |
C |
6: 67,994,178 (GRCm39) |
V22A |
probably benign |
Het |
Ikbke |
A |
T |
1: 131,183,048 (GRCm39) |
D692E |
probably benign |
Het |
Il15ra |
T |
C |
2: 11,737,956 (GRCm39) |
|
probably benign |
Het |
Il18rap |
A |
G |
1: 40,576,244 (GRCm39) |
I252V |
probably damaging |
Het |
Klra10 |
C |
T |
6: 130,249,680 (GRCm39) |
G202R |
probably damaging |
Het |
Kpna7 |
A |
G |
5: 144,929,661 (GRCm39) |
V388A |
probably damaging |
Het |
L2hgdh |
A |
G |
12: 69,768,175 (GRCm39) |
S108P |
probably damaging |
Het |
Msto1 |
G |
A |
3: 88,818,050 (GRCm39) |
T388M |
probably benign |
Het |
Naip1 |
T |
C |
13: 100,562,441 (GRCm39) |
E908G |
probably damaging |
Het |
Neto1 |
C |
A |
18: 86,491,814 (GRCm39) |
D238E |
possibly damaging |
Het |
Nlrp5 |
T |
A |
7: 23,117,159 (GRCm39) |
D294E |
probably benign |
Het |
Nr3c2 |
T |
C |
8: 77,635,816 (GRCm39) |
S306P |
probably damaging |
Het |
Or8b41 |
T |
A |
9: 38,055,167 (GRCm39) |
C240* |
probably null |
Het |
Pard3 |
T |
A |
8: 128,050,544 (GRCm39) |
L202H |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,458,293 (GRCm39) |
N190S |
probably damaging |
Het |
Pi4ka |
T |
C |
16: 17,127,222 (GRCm39) |
D1077G |
probably benign |
Het |
Pmfbp1 |
A |
C |
8: 110,240,543 (GRCm39) |
L208F |
probably damaging |
Het |
Pms1 |
C |
T |
1: 53,246,130 (GRCm39) |
D470N |
probably benign |
Het |
Prdm10 |
T |
C |
9: 31,238,578 (GRCm39) |
F108L |
probably benign |
Het |
Rab11fip1 |
A |
T |
8: 27,644,804 (GRCm39) |
M327K |
possibly damaging |
Het |
Slc37a4 |
T |
A |
9: 44,311,261 (GRCm39) |
L184Q |
probably damaging |
Het |
Smdt1 |
T |
C |
15: 82,232,094 (GRCm39) |
|
probably benign |
Het |
Smg6 |
A |
G |
11: 75,047,117 (GRCm39) |
Y1270C |
probably damaging |
Het |
Speer4f2 |
T |
A |
5: 17,581,565 (GRCm39) |
V169E |
possibly damaging |
Het |
Stpg2 |
C |
T |
3: 139,023,214 (GRCm39) |
A410V |
probably benign |
Het |
Tnrc6b |
T |
A |
15: 80,764,164 (GRCm39) |
D555E |
probably benign |
Het |
Tsg101 |
A |
G |
7: 46,558,808 (GRCm39) |
Y46H |
probably damaging |
Het |
Vmn2r111 |
G |
A |
17: 22,767,553 (GRCm39) |
S648L |
probably benign |
Het |
Vmn2r73 |
T |
A |
7: 85,507,267 (GRCm39) |
R682* |
probably null |
Het |
Xkr5 |
A |
T |
8: 18,983,514 (GRCm39) |
I676N |
probably damaging |
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 |
|
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 |
R3804:Cntn5
|
UTSW |
9 |
9,781,668 (GRCm39) |
splice site |
probably benign |
|
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 |
|
|
Posted On |
2013-12-03 |