Incidental Mutation 'R4929:Cntn5'
ID |
381092 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn5
|
Ensembl Gene |
ENSMUSG00000039488 |
Gene Name |
contactin 5 |
Synonyms |
A830025P08Rik, 6720426O10Rik, NB-2, LOC244683 |
MMRRC Submission |
042530-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4929 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
9660896-10904780 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 9976400 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 null
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 null
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 null
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 null
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 |
|
Meta Mutation Damage Score |
0.9487 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
100% (66/66) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
G |
7: 29,273,467 (GRCm39) |
|
noncoding transcript |
Het |
Abcd3 |
A |
T |
3: 121,562,395 (GRCm39) |
|
probably null |
Het |
Adamts12 |
C |
T |
15: 11,259,108 (GRCm39) |
R551C |
probably damaging |
Het |
Adamtsl4 |
A |
G |
3: 95,585,315 (GRCm39) |
C818R |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,506,599 (GRCm39) |
Q842L |
probably benign |
Het |
Aurka |
A |
T |
2: 172,212,326 (GRCm39) |
V17E |
probably benign |
Het |
Cdh24 |
C |
T |
14: 54,870,973 (GRCm39) |
V132I |
probably benign |
Het |
Cep57l1 |
T |
C |
10: 41,621,910 (GRCm39) |
D2G |
possibly damaging |
Het |
Col10a1 |
T |
C |
10: 34,271,120 (GRCm39) |
I364T |
probably benign |
Het |
Dpp6 |
G |
A |
5: 27,254,785 (GRCm39) |
A67T |
probably benign |
Het |
Dym |
T |
A |
18: 75,376,357 (GRCm39) |
V583E |
probably damaging |
Het |
Efcab5 |
T |
G |
11: 76,994,209 (GRCm39) |
K1259N |
probably benign |
Het |
Ehbp1 |
T |
G |
11: 22,189,169 (GRCm39) |
I78L |
possibly damaging |
Het |
Epha1 |
C |
A |
6: 42,341,533 (GRCm39) |
A469S |
probably benign |
Het |
Fam135a |
T |
C |
1: 24,069,081 (GRCm39) |
D596G |
probably benign |
Het |
Filip1 |
T |
C |
9: 79,727,029 (GRCm39) |
N530S |
probably benign |
Het |
Gm57858 |
G |
A |
3: 36,089,487 (GRCm39) |
L146F |
probably damaging |
Het |
Grhl2 |
A |
G |
15: 37,361,046 (GRCm39) |
N610S |
probably benign |
Het |
Haus6 |
T |
C |
4: 86,513,670 (GRCm39) |
I331V |
probably benign |
Het |
Ints2 |
G |
T |
11: 86,103,479 (GRCm39) |
N1192K |
possibly damaging |
Het |
Itga5 |
A |
G |
15: 103,261,662 (GRCm39) |
V445A |
probably benign |
Het |
Itga9 |
C |
A |
9: 118,636,317 (GRCm39) |
D82E |
probably damaging |
Het |
Jam2 |
G |
A |
16: 84,619,750 (GRCm39) |
|
probably benign |
Het |
Klhl32 |
T |
A |
4: 24,709,030 (GRCm39) |
I112F |
probably damaging |
Het |
Lepr |
A |
G |
4: 101,672,314 (GRCm39) |
I1113V |
probably benign |
Het |
Lrrc3b |
C |
A |
14: 15,357,888 (GRCm38) |
L239F |
probably damaging |
Het |
Lzic |
T |
A |
4: 149,572,585 (GRCm39) |
|
probably null |
Het |
Mxra8 |
T |
A |
4: 155,927,118 (GRCm39) |
F351I |
probably damaging |
Het |
Naa40 |
A |
G |
19: 7,207,347 (GRCm39) |
F126L |
probably damaging |
Het |
Nbeal1 |
C |
T |
1: 60,277,813 (GRCm39) |
S733F |
probably damaging |
Het |
Olr1 |
T |
C |
6: 129,477,044 (GRCm39) |
T74A |
probably damaging |
Het |
Or52x1 |
A |
G |
7: 104,853,232 (GRCm39) |
I106T |
probably damaging |
Het |
Or5aq7 |
A |
G |
2: 86,938,527 (GRCm39) |
F68S |
possibly damaging |
Het |
Or5h17 |
A |
C |
16: 58,820,582 (GRCm39) |
Y178S |
probably damaging |
Het |
Pgam5 |
A |
T |
5: 110,413,691 (GRCm39) |
V130D |
probably damaging |
Het |
Pop4 |
A |
G |
7: 37,965,573 (GRCm39) |
C115R |
probably damaging |
Het |
Prpf18 |
A |
T |
2: 4,629,348 (GRCm39) |
|
probably null |
Het |
Psg16 |
G |
A |
7: 16,829,031 (GRCm39) |
R205H |
possibly damaging |
Het |
Ptgr1 |
C |
A |
4: 58,981,879 (GRCm39) |
A53S |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
Slfn10-ps |
A |
G |
11: 82,920,345 (GRCm39) |
|
noncoding transcript |
Het |
Sox8 |
G |
A |
17: 25,789,330 (GRCm39) |
A56V |
probably benign |
Het |
Ssr3 |
A |
G |
3: 65,295,175 (GRCm39) |
S113P |
probably damaging |
Het |
Stx16 |
T |
C |
2: 173,938,721 (GRCm39) |
Y296H |
possibly damaging |
Het |
Tfcp2 |
A |
T |
15: 100,426,370 (GRCm39) |
N60K |
probably benign |
Het |
Thada |
T |
C |
17: 84,751,654 (GRCm39) |
T441A |
probably benign |
Het |
Trf |
G |
T |
9: 103,105,074 (GRCm39) |
|
probably benign |
Het |
Vamp2 |
T |
A |
11: 68,979,488 (GRCm39) |
|
probably benign |
Het |
Vmn2r105 |
A |
T |
17: 20,448,280 (GRCm39) |
D181E |
probably benign |
Het |
Vmn2r12 |
A |
T |
5: 109,239,544 (GRCm39) |
Y340N |
probably damaging |
Het |
Wasf2 |
C |
A |
4: 132,923,170 (GRCm39) |
D493E |
unknown |
Het |
Wdfy4 |
T |
C |
14: 32,769,213 (GRCm39) |
D2084G |
possibly damaging |
Het |
Zfp229 |
T |
A |
17: 21,965,354 (GRCm39) |
I528N |
probably damaging |
Het |
Zfp703 |
T |
A |
8: 27,468,879 (GRCm39) |
V181E |
possibly 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 |
|
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 |
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 |
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'- GAAGTTCTGAGCTCCCCATG -3'
(R):5'- CCTCTGTGTAATAATGACATGCCC -3'
Sequencing Primer
(F):5'- GAGCTCCCCATGTACCGTAC -3'
(R):5'- GCTGTGTAATAGTGATGTACTCTCC -3'
|
Posted On |
2016-04-15 |