Incidental Mutation 'R7586:Cntn3'
| ID |
587134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn3
|
| Ensembl Gene |
ENSMUSG00000030075 |
| Gene Name |
contactin 3 |
| Synonyms |
Pang |
| MMRRC Submission |
045668-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102397388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 62
(W62R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032159]
[ENSMUST00000203619]
|
| AlphaFold |
Q07409 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032159
AA Change: W62R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: W62R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
1.85e-7 |
SMART |
|
IG
|
129 |
217 |
1.82e-6 |
SMART |
|
IGc2
|
240 |
304 |
6.8e-15 |
SMART |
|
IGc2
|
330 |
393 |
1.74e-12 |
SMART |
|
IGc2
|
422 |
486 |
1.53e-8 |
SMART |
|
IG
|
506 |
595 |
5.2e-11 |
SMART |
|
FN3
|
598 |
684 |
3.4e-13 |
SMART |
|
FN3
|
701 |
787 |
5.36e-2 |
SMART |
|
FN3
|
803 |
888 |
4.63e-6 |
SMART |
|
FN3
|
903 |
983 |
1.07e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203619
AA Change: W62R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: W62R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
1.85e-7 |
SMART |
|
IG
|
129 |
217 |
1.82e-6 |
SMART |
|
IGc2
|
240 |
304 |
6.8e-15 |
SMART |
|
IGc2
|
330 |
393 |
1.74e-12 |
SMART |
|
IGc2
|
422 |
486 |
1.53e-8 |
SMART |
|
IG
|
506 |
595 |
5.2e-11 |
SMART |
|
FN3
|
598 |
684 |
3.4e-13 |
SMART |
|
FN3
|
701 |
787 |
5.36e-2 |
SMART |
|
FN3
|
803 |
888 |
4.63e-6 |
SMART |
|
FN3
|
903 |
983 |
1.07e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
C |
T |
9: 65,409,466 (GRCm39) |
|
probably null |
Het |
| Ankrd31 |
A |
G |
13: 96,968,562 (GRCm39) |
E733G |
possibly damaging |
Het |
| Cars2 |
C |
T |
8: 11,580,321 (GRCm39) |
W239* |
probably null |
Het |
| Catsperz |
A |
T |
19: 6,899,929 (GRCm39) |
L192* |
probably null |
Het |
| Ccdc168 |
G |
A |
1: 44,099,173 (GRCm39) |
R642W |
probably benign |
Het |
| Cdh3 |
T |
C |
8: 107,237,975 (GRCm39) |
|
probably null |
Het |
| Cfh |
C |
T |
1: 140,075,459 (GRCm39) |
V260M |
probably damaging |
Het |
| Clcn4 |
T |
A |
7: 7,296,958 (GRCm39) |
S227C |
probably benign |
Het |
| Col27a1 |
C |
A |
4: 63,143,278 (GRCm39) |
A322D |
probably damaging |
Het |
| Egflam |
C |
T |
15: 7,238,082 (GRCm39) |
G934S |
probably damaging |
Het |
| Eloa |
A |
G |
4: 135,734,510 (GRCm39) |
V665A |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,073,275 (GRCm39) |
T2433A |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,215,011 (GRCm39) |
N848S |
possibly damaging |
Het |
| Fbrsl1 |
A |
C |
5: 110,526,020 (GRCm39) |
F61V |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,349,683 (GRCm39) |
Y1595H |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 52,963,256 (GRCm39) |
N213D |
probably benign |
Het |
| Gab2 |
C |
T |
7: 96,950,645 (GRCm39) |
P446L |
probably damaging |
Het |
| Ganab |
A |
T |
19: 8,888,716 (GRCm39) |
Y552F |
possibly damaging |
Het |
| Gfy |
C |
T |
7: 44,826,962 (GRCm39) |
R378Q |
probably damaging |
Het |
| Gm3285 |
T |
C |
10: 77,697,875 (GRCm39) |
V8A |
unknown |
Het |
| Grip1 |
A |
T |
10: 119,913,043 (GRCm39) |
|
probably null |
Het |
| Gtf3c3 |
A |
G |
1: 54,442,752 (GRCm39) |
L764P |
probably damaging |
Het |
| Igfbp2 |
A |
T |
1: 72,888,307 (GRCm39) |
M150L |
probably benign |
Het |
| Jakmip2 |
C |
T |
18: 43,673,676 (GRCm39) |
R796Q |
probably damaging |
Het |
| Jpt1 |
T |
A |
11: 115,389,021 (GRCm39) |
R141W |
probably damaging |
Het |
| Junb |
T |
C |
8: 85,704,802 (GRCm39) |
E86G |
probably damaging |
Het |
| Klhl41 |
A |
T |
2: 69,505,068 (GRCm39) |
D457V |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,977,389 (GRCm39) |
Y1930C |
probably benign |
Het |
| Med13 |
A |
T |
11: 86,161,828 (GRCm39) |
I2167N |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,485,840 (GRCm39) |
|
probably benign |
Het |
| Myo1b |
A |
C |
1: 51,817,483 (GRCm39) |
I593S |
probably damaging |
Het |
| Myo1c |
A |
T |
11: 75,548,345 (GRCm39) |
T16S |
possibly damaging |
Het |
| Ndufaf4 |
C |
T |
4: 24,901,829 (GRCm39) |
L126F |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,256,721 (GRCm39) |
N113I |
possibly damaging |
Het |
| Or5d43 |
T |
A |
2: 88,104,794 (GRCm39) |
I200F |
probably damaging |
Het |
| Or5g23 |
G |
C |
2: 85,438,528 (GRCm39) |
S242C |
probably damaging |
Het |
| Or5p6 |
T |
A |
7: 107,631,128 (GRCm39) |
T141S |
probably benign |
Het |
| Pabpc6 |
A |
T |
17: 9,887,611 (GRCm39) |
D313E |
probably damaging |
Het |
| Pcdhb2 |
G |
T |
18: 37,428,857 (GRCm39) |
G277* |
probably null |
Het |
| Phkb |
T |
G |
8: 86,756,226 (GRCm39) |
V840G |
probably damaging |
Het |
| Pip4k2c |
A |
G |
10: 127,034,955 (GRCm39) |
F415S |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,179,779 (GRCm39) |
E1112G |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,797,206 (GRCm39) |
D847G |
probably damaging |
Het |
| Qrich2 |
C |
T |
11: 116,346,450 (GRCm39) |
R1458H |
probably benign |
Het |
| Rdh11 |
T |
C |
12: 79,231,957 (GRCm39) |
Y199C |
probably damaging |
Het |
| Resf1 |
A |
T |
6: 149,228,291 (GRCm39) |
N446Y |
possibly damaging |
Het |
| Scamp3 |
A |
G |
3: 89,087,673 (GRCm39) |
Y171C |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,743 (GRCm39) |
S312P |
probably damaging |
Het |
| Slain2 |
G |
A |
5: 73,123,165 (GRCm39) |
S461N |
probably benign |
Het |
| Slc23a1 |
G |
A |
18: 35,758,891 (GRCm39) |
T100I |
probably damaging |
Het |
| Spata31d1b |
T |
A |
13: 59,866,194 (GRCm39) |
I1114N |
probably damaging |
Het |
| Spinkl |
A |
G |
18: 44,307,656 (GRCm39) |
S2P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,300,457 (GRCm39) |
N173S |
probably damaging |
Het |
| Stk24 |
C |
T |
14: 121,539,699 (GRCm39) |
A166T |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,411,013 (GRCm39) |
V697E |
probably damaging |
Het |
| Taf6l |
C |
T |
19: 8,761,210 (GRCm39) |
E53K |
probably damaging |
Het |
| Tmem81 |
A |
T |
1: 132,435,511 (GRCm39) |
I106F |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,935,382 (GRCm39) |
L2561I |
probably damaging |
Het |
| Top3b |
G |
A |
16: 16,709,232 (GRCm39) |
R640H |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,652,085 (GRCm39) |
S1463T |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Tubal3 |
A |
C |
13: 3,978,198 (GRCm39) |
D38A |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,624,962 (GRCm39) |
I2766F |
probably benign |
Het |
| Wwc1 |
A |
T |
11: 35,735,022 (GRCm39) |
V951E |
possibly damaging |
Het |
| Zfp777 |
A |
T |
6: 48,006,152 (GRCm39) |
M414K |
probably benign |
Het |
|
| Other mutations in Cntn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00538:Cntn3
|
APN |
6 |
102,397,223 (GRCm39) |
nonsense |
probably null |
|
|
IGL00706:Cntn3
|
APN |
6 |
102,180,910 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01071:Cntn3
|
APN |
6 |
102,397,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01769:Cntn3
|
APN |
6 |
102,185,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01995:Cntn3
|
APN |
6 |
102,180,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02058:Cntn3
|
APN |
6 |
102,176,321 (GRCm39) |
splice site |
probably benign |
|
|
IGL02736:Cntn3
|
APN |
6 |
102,180,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02955:Cntn3
|
APN |
6 |
102,255,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02971:Cntn3
|
APN |
6 |
102,145,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03208:Cntn3
|
APN |
6 |
102,164,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
P0037:Cntn3
|
UTSW |
6 |
102,186,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Cntn3
|
UTSW |
6 |
102,441,527 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0314:Cntn3
|
UTSW |
6 |
102,397,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0388:Cntn3
|
UTSW |
6 |
102,254,277 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0483:Cntn3
|
UTSW |
6 |
102,180,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Cntn3
|
UTSW |
6 |
102,254,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0543:Cntn3
|
UTSW |
6 |
102,246,051 (GRCm39) |
splice site |
probably benign |
|
|
R0629:Cntn3
|
UTSW |
6 |
102,180,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0691:Cntn3
|
UTSW |
6 |
102,145,908 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0693:Cntn3
|
UTSW |
6 |
102,145,908 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0781:Cntn3
|
UTSW |
6 |
102,222,119 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1110:Cntn3
|
UTSW |
6 |
102,222,119 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1144:Cntn3
|
UTSW |
6 |
102,219,087 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1503:Cntn3
|
UTSW |
6 |
102,441,526 (GRCm39) |
nonsense |
probably null |
|
|
R1640:Cntn3
|
UTSW |
6 |
102,218,974 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1681:Cntn3
|
UTSW |
6 |
102,147,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1770:Cntn3
|
UTSW |
6 |
102,246,166 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1782:Cntn3
|
UTSW |
6 |
102,250,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1861:Cntn3
|
UTSW |
6 |
102,222,032 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1930:Cntn3
|
UTSW |
6 |
102,219,014 (GRCm39) |
nonsense |
probably null |
|
|
R2026:Cntn3
|
UTSW |
6 |
102,397,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Cntn3
|
UTSW |
6 |
102,183,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2313:Cntn3
|
UTSW |
6 |
102,180,889 (GRCm39) |
missense |
probably benign |
|
|
R2351:Cntn3
|
UTSW |
6 |
102,314,344 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3611:Cntn3
|
UTSW |
6 |
102,185,038 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4349:Cntn3
|
UTSW |
6 |
102,176,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4421:Cntn3
|
UTSW |
6 |
102,441,508 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4513:Cntn3
|
UTSW |
6 |
102,145,943 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4678:Cntn3
|
UTSW |
6 |
102,180,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Cntn3
|
UTSW |
6 |
102,142,292 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4720:Cntn3
|
UTSW |
6 |
102,218,983 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4879:Cntn3
|
UTSW |
6 |
102,244,389 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4951:Cntn3
|
UTSW |
6 |
102,145,986 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5410:Cntn3
|
UTSW |
6 |
102,255,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5502:Cntn3
|
UTSW |
6 |
102,242,295 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5852:Cntn3
|
UTSW |
6 |
102,397,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5903:Cntn3
|
UTSW |
6 |
102,219,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6193:Cntn3
|
UTSW |
6 |
102,185,092 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6258:Cntn3
|
UTSW |
6 |
102,254,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6260:Cntn3
|
UTSW |
6 |
102,254,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6350:Cntn3
|
UTSW |
6 |
102,147,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6490:Cntn3
|
UTSW |
6 |
102,255,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6993:Cntn3
|
UTSW |
6 |
102,255,365 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7064:Cntn3
|
UTSW |
6 |
102,250,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7085:Cntn3
|
UTSW |
6 |
102,142,362 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7174:Cntn3
|
UTSW |
6 |
102,142,305 (GRCm39) |
missense |
probably benign |
|
|
R7208:Cntn3
|
UTSW |
6 |
102,255,383 (GRCm39) |
nonsense |
probably null |
|
|
R7395:Cntn3
|
UTSW |
6 |
102,314,355 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7447:Cntn3
|
UTSW |
6 |
102,255,416 (GRCm39) |
nonsense |
probably null |
|
|
R7571:Cntn3
|
UTSW |
6 |
102,255,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7614:Cntn3
|
UTSW |
6 |
102,142,337 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7697:Cntn3
|
UTSW |
6 |
102,185,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7697:Cntn3
|
UTSW |
6 |
102,185,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Cntn3
|
UTSW |
6 |
102,242,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8011:Cntn3
|
UTSW |
6 |
102,414,860 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8013:Cntn3
|
UTSW |
6 |
102,176,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8377:Cntn3
|
UTSW |
6 |
102,186,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8726:Cntn3
|
UTSW |
6 |
102,146,014 (GRCm39) |
nonsense |
probably null |
|
|
R8770:Cntn3
|
UTSW |
6 |
102,254,277 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8827:Cntn3
|
UTSW |
6 |
102,246,094 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8947:Cntn3
|
UTSW |
6 |
102,414,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Cntn3
|
UTSW |
6 |
102,181,023 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9055:Cntn3
|
UTSW |
6 |
102,244,398 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9061:Cntn3
|
UTSW |
6 |
102,314,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Cntn3
|
UTSW |
6 |
102,183,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Cntn3
|
UTSW |
6 |
102,254,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Cntn3
|
UTSW |
6 |
102,397,255 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Z1176:Cntn3
|
UTSW |
6 |
102,414,892 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Cntn3
|
UTSW |
6 |
102,314,292 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTGGAGTTTGGCTTCTCTG -3'
(R):5'- GGGCATCTTCTGGATATATGCCC -3'
Sequencing Primer
(F):5'- GCTCACTATTGTTCCAAGAGAATTCG -3'
(R):5'- ATTTTCTGAGGAACCGCCAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation