Incidental Mutation 'R9382:Cntn5'
ID |
710107 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn5
|
Ensembl Gene |
ENSMUSG00000039488 |
Gene Name |
contactin 5 |
Synonyms |
A830025P08Rik, 6720426O10Rik, NB-2, LOC244683 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9382 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
9660896-10904780 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9673817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 762
(T762A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074133]
[ENSMUST00000160216]
[ENSMUST00000162484]
[ENSMUST00000179049]
|
AlphaFold |
P68500 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074133
AA Change: T967A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000073769 Gene: ENSMUSG00000039488 AA Change: T967A
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
AA Change: T967A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124327 Gene: ENSMUSG00000039488 AA Change: T967A
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
AA Change: T762A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124214 Gene: ENSMUSG00000039488 AA Change: T762A
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
AA Change: T762A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135903 Gene: ENSMUSG00000039488 AA Change: T762A
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
A |
11: 109,870,711 (GRCm39) |
S147L |
probably benign |
Het |
Abraxas1 |
A |
G |
5: 100,957,649 (GRCm39) |
V190A |
probably benign |
Het |
Aoc1l2 |
A |
T |
6: 48,907,298 (GRCm39) |
K99N |
probably benign |
Het |
Aox1 |
T |
A |
1: 58,104,501 (GRCm39) |
H559Q |
possibly damaging |
Het |
Arhgap31 |
C |
T |
16: 38,422,988 (GRCm39) |
G1026D |
probably benign |
Het |
C1ra |
T |
C |
6: 124,490,819 (GRCm39) |
F71L |
probably benign |
Het |
C530025M09Rik |
T |
C |
2: 149,672,640 (GRCm39) |
H165R |
unknown |
Het |
Celf2 |
A |
T |
2: 6,726,404 (GRCm39) |
M43K |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,706,961 (GRCm39) |
V1148A |
possibly damaging |
Het |
Cmya5 |
T |
G |
13: 93,229,884 (GRCm39) |
K1735Q |
probably benign |
Het |
Cntln |
A |
C |
4: 84,968,318 (GRCm39) |
M846L |
probably benign |
Het |
Col11a1 |
T |
A |
3: 113,899,046 (GRCm39) |
L525Q |
unknown |
Het |
Col12a1 |
T |
C |
9: 79,589,364 (GRCm39) |
T1064A |
probably benign |
Het |
Cyc1 |
T |
C |
15: 76,229,273 (GRCm39) |
V211A |
possibly damaging |
Het |
Ddx56 |
A |
G |
11: 6,215,516 (GRCm39) |
S296P |
probably damaging |
Het |
Deptor |
A |
T |
15: 54,975,798 (GRCm39) |
|
probably benign |
Het |
Ezh1 |
C |
T |
11: 101,094,265 (GRCm39) |
R409H |
possibly damaging |
Het |
Fam228b |
T |
A |
12: 4,798,147 (GRCm39) |
E190V |
probably damaging |
Het |
Fkbp15 |
A |
T |
4: 62,237,210 (GRCm39) |
L635H |
probably damaging |
Het |
Frem1 |
G |
A |
4: 82,901,622 (GRCm39) |
L969F |
possibly damaging |
Het |
Gabrg2 |
T |
C |
11: 41,858,433 (GRCm39) |
R232G |
probably benign |
Het |
Gpr26 |
G |
A |
7: 131,568,963 (GRCm39) |
D103N |
probably damaging |
Het |
Grid2ip |
T |
G |
5: 143,361,103 (GRCm39) |
|
probably null |
Het |
Ints7 |
T |
C |
1: 191,351,793 (GRCm39) |
V834A |
probably damaging |
Het |
Kcnh7 |
T |
A |
2: 62,667,612 (GRCm39) |
H309L |
probably benign |
Het |
Mael |
T |
C |
1: 166,053,282 (GRCm39) |
E241G |
probably damaging |
Het |
Neb |
T |
A |
2: 52,122,277 (GRCm39) |
E584V |
|
Het |
Nexn |
C |
T |
3: 151,959,401 (GRCm39) |
V23M |
probably damaging |
Het |
Npas1 |
T |
C |
7: 16,190,231 (GRCm39) |
|
probably null |
Het |
Or51f1 |
T |
C |
7: 102,506,014 (GRCm39) |
I158M |
probably benign |
Het |
Pcdh17 |
T |
G |
14: 84,685,522 (GRCm39) |
V663G |
probably damaging |
Het |
Pga5 |
C |
T |
19: 10,646,897 (GRCm39) |
G303S |
probably damaging |
Het |
Poln |
T |
A |
5: 34,164,842 (GRCm39) |
K844N |
probably damaging |
Het |
Prkar1b |
C |
T |
5: 139,036,442 (GRCm39) |
D227N |
probably damaging |
Het |
Proc |
T |
A |
18: 32,256,336 (GRCm39) |
I444F |
probably damaging |
Het |
Ptprn |
G |
T |
1: 75,229,135 (GRCm39) |
H791N |
probably benign |
Het |
Ror1 |
T |
C |
4: 100,191,709 (GRCm39) |
S160P |
probably benign |
Het |
Satb2 |
T |
A |
1: 56,870,797 (GRCm39) |
|
probably null |
Het |
Slc43a3 |
C |
T |
2: 84,780,771 (GRCm39) |
A332V |
probably benign |
Het |
Sp100 |
G |
A |
1: 85,627,336 (GRCm39) |
V410M |
probably damaging |
Het |
Srgap2 |
T |
C |
1: 131,217,346 (GRCm39) |
T989A |
probably benign |
Het |
Ssc5d |
T |
C |
7: 4,930,283 (GRCm39) |
|
probably null |
Het |
Tll2 |
A |
G |
19: 41,116,997 (GRCm39) |
Y273H |
probably benign |
Het |
Tub |
T |
C |
7: 108,626,211 (GRCm39) |
V295A |
possibly damaging |
Het |
Unc13b |
T |
A |
4: 43,172,512 (GRCm39) |
D1113E |
unknown |
Het |
Usp9y |
C |
A |
Y: 1,364,776 (GRCm39) |
M1012I |
probably benign |
Het |
Vmn1r238 |
A |
G |
18: 3,122,676 (GRCm39) |
V246A |
probably damaging |
Het |
Vmn2r88 |
T |
G |
14: 51,656,197 (GRCm39) |
V802G |
|
Het |
Wnt7b |
T |
C |
15: 85,443,175 (GRCm39) |
Q76R |
probably damaging |
Het |
Zan |
T |
C |
5: 137,389,917 (GRCm39) |
R4852G |
unknown |
Het |
Zfp618 |
A |
T |
4: 63,051,258 (GRCm39) |
T680S |
probably damaging |
Het |
Zfp784 |
T |
A |
7: 5,041,338 (GRCm39) |
D25V |
unknown |
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 |
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 |
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'- AACCTTTACAGACTGGGAATGC -3'
(R):5'- TATGTCAGGCAGTCACAATCCC -3'
Sequencing Primer
(F):5'- TGAAACAAGGCTCCCTTC -3'
(R):5'- GTGTTGACAGATTAGTTACTGGAAAG -3'
|
Posted On |
2022-04-18 |