Incidental Mutation 'R6774:Cntn5'
| ID |
532291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn5
|
| Ensembl Gene |
ENSMUSG00000039488 |
| Gene Name |
contactin 5 |
| Synonyms |
A830025P08Rik, 6720426O10Rik, NB-2, LOC244683 |
| MMRRC Submission |
044890-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
9660896-10904780 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10144222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 149
(Y149C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074133]
[ENSMUST00000160216]
[ENSMUST00000162484]
[ENSMUST00000179049]
|
| AlphaFold |
P68500 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074133
AA Change: Y149C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488
AA Change: Y149C
| 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: Y149C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488
AA Change: Y149C
| 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 |
|
| Meta Mutation Damage Score |
0.5841 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,908 (GRCm39) |
I822N |
probably damaging |
Het |
| 9930111J21Rik1 |
A |
G |
11: 48,838,143 (GRCm39) |
S815P |
possibly damaging |
Het |
| A430033K04Rik |
A |
G |
5: 138,644,712 (GRCm39) |
Y199C |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,078,220 (GRCm39) |
H668L |
probably benign |
Het |
| Afap1l1 |
A |
T |
18: 61,888,732 (GRCm39) |
V113E |
probably benign |
Het |
| Ahnak2 |
C |
T |
12: 112,740,172 (GRCm39) |
C494Y |
possibly damaging |
Het |
| Atr |
A |
T |
9: 95,809,266 (GRCm39) |
E1981D |
probably benign |
Het |
| Bmp7 |
A |
G |
2: 172,714,751 (GRCm39) |
Y353H |
probably damaging |
Het |
| Capn11 |
C |
T |
17: 45,968,256 (GRCm39) |
|
probably benign |
Het |
| Ccdc103 |
T |
C |
11: 102,773,519 (GRCm39) |
F47S |
probably damaging |
Het |
| Cmas |
A |
G |
6: 142,710,147 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Col12a1 |
A |
C |
9: 79,613,619 (GRCm39) |
S75R |
possibly damaging |
Het |
| Crat |
G |
A |
2: 30,303,195 (GRCm39) |
H31Y |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,737,810 (GRCm39) |
V41A |
probably benign |
Het |
| F5 |
C |
T |
1: 164,014,447 (GRCm39) |
R573C |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,117,261 (GRCm39) |
N1170S |
possibly damaging |
Het |
| Gm29666 |
A |
T |
15: 84,798,260 (GRCm39) |
C100* |
probably null |
Het |
| Gm3573 |
A |
T |
14: 42,009,472 (GRCm39) |
Y158N |
possibly damaging |
Het |
| Gtf3c1 |
G |
T |
7: 125,240,793 (GRCm39) |
A1968E |
possibly damaging |
Het |
| Heg1 |
C |
A |
16: 33,558,638 (GRCm39) |
T815K |
probably damaging |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Kif17 |
A |
G |
4: 138,002,306 (GRCm39) |
Y170C |
probably damaging |
Het |
| Kti12 |
G |
A |
4: 108,705,652 (GRCm39) |
G189R |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,341,849 (GRCm39) |
A1821T |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,456,948 (GRCm39) |
I610V |
probably benign |
Het |
| Mmp1b |
T |
C |
9: 7,387,914 (GRCm39) |
K27E |
probably benign |
Het |
| Mob4 |
A |
G |
1: 55,187,588 (GRCm39) |
|
probably null |
Het |
| Myc |
G |
A |
15: 61,860,128 (GRCm39) |
|
probably null |
Het |
| Myo5c |
A |
T |
9: 75,196,468 (GRCm39) |
I1305F |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,187,381 (GRCm39) |
V292A |
probably damaging |
Het |
| Ntng2 |
T |
C |
2: 29,087,102 (GRCm39) |
T373A |
probably damaging |
Het |
| Or1f19 |
T |
A |
16: 3,410,380 (GRCm39) |
V40D |
probably damaging |
Het |
| Or4a67 |
C |
T |
2: 88,598,228 (GRCm39) |
V144I |
probably benign |
Het |
| Or5p50 |
T |
A |
7: 107,422,395 (GRCm39) |
T94S |
probably benign |
Het |
| Or7e171-ps1 |
A |
T |
9: 19,853,070 (GRCm39) |
L222H |
unknown |
Het |
| Pard3 |
T |
C |
8: 128,137,228 (GRCm39) |
L859P |
probably damaging |
Het |
| Ppcs |
T |
C |
4: 119,276,285 (GRCm39) |
D100G |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,543,325 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
T |
C |
7: 138,835,903 (GRCm39) |
V448A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,056,119 (GRCm39) |
K624R |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,815,974 (GRCm39) |
I686N |
probably benign |
Het |
| Synj2 |
C |
T |
17: 6,088,290 (GRCm39) |
S1447L |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,928,606 (GRCm39) |
Y2673* |
probably null |
Het |
| Trim27 |
T |
A |
13: 21,376,624 (GRCm39) |
H457Q |
probably damaging |
Het |
| Trim72 |
T |
G |
7: 127,609,558 (GRCm39) |
F453L |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,015,379 (GRCm39) |
M877K |
probably damaging |
Het |
| Usp10 |
T |
C |
8: 120,678,711 (GRCm39) |
L564P |
probably benign |
Het |
| Usp54 |
A |
G |
14: 20,627,296 (GRCm39) |
V454A |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,904 (GRCm39) |
D701E |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,773 (GRCm39) |
H50R |
probably benign |
Het |
| Zfp35 |
G |
A |
18: 24,136,015 (GRCm39) |
V120I |
possibly damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,568 (GRCm39) |
T320A |
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 |
|
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 |
|
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'- CTTCAGAAGAAATTCGTGGTTTCTC -3'
(R):5'- CATTCCAGGTGTCTCCCAAG -3'
Sequencing Primer
(F):5'- ACTGAAGGTTTAAACTTGTTCAGC -3'
(R):5'- AGGTGTCTCCCAAGTCCAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation