Incidental Mutation 'R8789:Cntn5'
| ID |
670822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn5
|
| Ensembl Gene |
ENSMUSG00000039488 |
| Gene Name |
contactin 5 |
| Synonyms |
A830025P08Rik, 6720426O10Rik, NB-2, LOC244683 |
| MMRRC Submission |
068608-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
9660896-10904780 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9673292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 803
(Y803H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074133]
[ENSMUST00000160216]
[ENSMUST00000162484]
[ENSMUST00000179049]
|
| AlphaFold |
P68500 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074133
AA Change: Y1008H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488
AA Change: Y1008H
| 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: Y1008H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488
AA Change: Y1008H
| 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: Y803H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124214
Gene: ENSMUSG00000039488
AA Change: Y803H
| 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: Y803H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135903
Gene: ENSMUSG00000039488
AA Change: Y803H
| 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: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
C |
T |
2: 158,478,604 (GRCm39) |
Q485* |
probably null |
Het |
| Arsa |
C |
T |
15: 89,358,260 (GRCm39) |
V350I |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cav2 |
T |
C |
6: 17,281,996 (GRCm39) |
Y85H |
probably damaging |
Het |
| Ccdc93 |
A |
G |
1: 121,424,784 (GRCm39) |
Q570R |
probably damaging |
Het |
| Cd72 |
A |
G |
4: 43,452,628 (GRCm39) |
S122P |
probably damaging |
Het |
| Cep72 |
A |
G |
13: 74,186,367 (GRCm39) |
M619T |
possibly damaging |
Het |
| Cers5 |
C |
A |
15: 99,637,551 (GRCm39) |
V233F |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,554 (GRCm39) |
S596P |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,375,359 (GRCm39) |
E251G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,266,722 (GRCm39) |
N68I |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,642,933 (GRCm39) |
N466S |
possibly damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,007,106 (GRCm39) |
I71N |
probably damaging |
Het |
| Cyp2j11 |
C |
T |
4: 96,227,405 (GRCm39) |
E204K |
probably damaging |
Het |
| Cyp4f39 |
T |
C |
17: 32,710,848 (GRCm39) |
F469S |
probably damaging |
Het |
| Dmac2 |
T |
A |
7: 25,320,495 (GRCm39) |
S65T |
probably benign |
Het |
| Duxf1 |
T |
C |
10: 58,059,426 (GRCm39) |
N443D |
unknown |
Het |
| Elp3 |
G |
A |
14: 65,802,870 (GRCm39) |
P243S |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,143 (GRCm39) |
M292K |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,815,822 (GRCm39) |
S3852P |
possibly damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm10912 |
A |
C |
2: 103,897,046 (GRCm39) |
K62Q |
possibly damaging |
Het |
| Grk2 |
G |
A |
19: 4,338,511 (GRCm39) |
R474C |
probably damaging |
Het |
| Hapstr1 |
T |
C |
16: 8,660,865 (GRCm39) |
I114T |
probably benign |
Het |
| Hoxc12 |
T |
C |
15: 102,846,732 (GRCm39) |
I208T |
probably benign |
Het |
| Htra3 |
G |
A |
5: 35,836,602 (GRCm39) |
P30L |
unknown |
Het |
| Itgal |
A |
G |
7: 126,904,421 (GRCm39) |
H298R |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,761,148 (GRCm39) |
S160P |
probably benign |
Het |
| Or13c7d |
A |
T |
4: 43,770,793 (GRCm39) |
C73S |
probably damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,135 (GRCm39) |
F177S |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 140,836,581 (GRCm39) |
D284E |
unknown |
Het |
| Pmp2 |
T |
A |
3: 10,247,564 (GRCm39) |
I42F |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,216,494 (GRCm39) |
D115G |
probably damaging |
Het |
| Pym1 |
T |
C |
10: 128,601,073 (GRCm39) |
V32A |
probably benign |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,588,546 (GRCm39) |
H1105R |
probably benign |
Het |
| Rimkla |
T |
C |
4: 119,349,607 (GRCm39) |
Y17C |
probably damaging |
Het |
| Rnf207 |
C |
T |
4: 152,391,924 (GRCm39) |
R623K |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,999,328 (GRCm39) |
N1207K |
probably damaging |
Het |
| Scg2 |
G |
T |
1: 79,413,500 (GRCm39) |
Q368K |
probably benign |
Het |
| Serpinb6e |
G |
A |
13: 34,017,213 (GRCm39) |
T269I |
probably damaging |
Het |
| Tsc22d2 |
A |
T |
3: 58,367,438 (GRCm39) |
K663* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,137,494 (GRCm39) |
N1026K |
possibly damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,321,609 (GRCm39) |
D379G |
unknown |
Het |
| Vps13d |
T |
C |
4: 144,795,743 (GRCm39) |
M3700V |
|
Het |
| Zscan4-ps3 |
T |
C |
7: 11,346,288 (GRCm39) |
L136P |
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 |
|
|
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 |
|
|
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'- CTTAGGAAGGTTGAGAGCTACTGG -3'
(R):5'- CAGGAATCCTCAGGACTGATAGG -3'
Sequencing Primer
(F):5'- TTGAGAGCTACTGGTGAAGGG -3'
(R):5'- CTGATAGGAAGAAAGGCTTTTCGGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation