Incidental Mutation 'R1782:Cntn3'
ID |
195382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
MMRRC Submission |
039813-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1782 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102250772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 259
(I259V)
|
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: I259V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: I259V
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 |
noncoding transcript
Transcript: ENSMUST00000203050
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000203619
AA Change: I259V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: I259V
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 |
noncoding transcript
Transcript: ENSMUST00000204857
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,247,971 (GRCm39) |
T2573S |
probably benign |
Het |
Adgra3 |
G |
T |
5: 50,129,404 (GRCm39) |
T738K |
probably benign |
Het |
Adgrl4 |
C |
T |
3: 151,248,442 (GRCm39) |
Q705* |
probably null |
Het |
Atp2b1 |
T |
G |
10: 98,839,063 (GRCm39) |
D630E |
probably benign |
Het |
Atp2c1 |
G |
A |
9: 105,308,786 (GRCm39) |
R577C |
probably damaging |
Het |
Atp9b |
A |
G |
18: 80,809,137 (GRCm39) |
V211A |
probably damaging |
Het |
C8g |
T |
A |
2: 25,389,094 (GRCm39) |
D163V |
possibly damaging |
Het |
Catsper1 |
T |
C |
19: 5,385,937 (GRCm39) |
Y57H |
probably benign |
Het |
Ccdc25 |
C |
T |
14: 66,091,597 (GRCm39) |
A72V |
probably benign |
Het |
Cdca2 |
T |
G |
14: 67,915,260 (GRCm39) |
E666D |
probably benign |
Het |
Cdh23 |
G |
A |
10: 60,324,321 (GRCm39) |
T313I |
probably damaging |
Het |
Cfap57 |
C |
A |
4: 118,472,172 (GRCm39) |
R69L |
probably damaging |
Het |
Chat |
C |
A |
14: 32,130,944 (GRCm39) |
V566L |
probably damaging |
Het |
Cog1 |
A |
G |
11: 113,544,792 (GRCm39) |
T325A |
probably benign |
Het |
Cxcl10 |
A |
G |
5: 92,495,662 (GRCm39) |
*94Q |
probably null |
Het |
Cyp4a12b |
T |
C |
4: 115,291,178 (GRCm39) |
Y369H |
probably damaging |
Het |
Dhx33 |
T |
C |
11: 70,892,466 (GRCm39) |
Y101C |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,723,142 (GRCm39) |
M1593T |
probably damaging |
Het |
Dpy19l3 |
T |
C |
7: 35,407,580 (GRCm39) |
T488A |
possibly damaging |
Het |
Elapor2 |
A |
T |
5: 9,471,620 (GRCm39) |
K320N |
possibly damaging |
Het |
Fbxw14 |
A |
G |
9: 109,107,759 (GRCm39) |
I205T |
possibly damaging |
Het |
Fbxw7 |
T |
C |
3: 84,811,126 (GRCm39) |
F84L |
probably benign |
Het |
Flii |
T |
C |
11: 60,605,462 (GRCm39) |
T1212A |
probably benign |
Het |
Fosl1 |
T |
A |
19: 5,500,210 (GRCm39) |
I43N |
probably damaging |
Het |
Gabrr2 |
G |
A |
4: 33,085,593 (GRCm39) |
A338T |
probably damaging |
Het |
Gask1b |
T |
C |
3: 79,793,838 (GRCm39) |
L102S |
possibly damaging |
Het |
Gatad2b |
T |
C |
3: 90,249,178 (GRCm39) |
V72A |
probably benign |
Het |
Gorasp1 |
G |
T |
9: 119,761,888 (GRCm39) |
N48K |
probably damaging |
Het |
Gramd1b |
C |
A |
9: 40,324,633 (GRCm39) |
D139Y |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,266,246 (GRCm39) |
V1030E |
probably damaging |
Het |
Havcr2 |
C |
T |
11: 46,345,844 (GRCm39) |
T6I |
unknown |
Het |
Hgs |
A |
G |
11: 120,369,331 (GRCm39) |
E340G |
probably damaging |
Het |
Irx2 |
A |
G |
13: 72,779,585 (GRCm39) |
T290A |
probably benign |
Het |
Itgb8 |
T |
A |
12: 119,155,853 (GRCm39) |
I200F |
probably damaging |
Het |
Josd2 |
A |
G |
7: 44,120,577 (GRCm39) |
I105V |
probably damaging |
Het |
Kcnh7 |
T |
A |
2: 62,566,513 (GRCm39) |
D806V |
probably damaging |
Het |
Kctd8 |
A |
G |
5: 69,498,319 (GRCm39) |
V109A |
possibly damaging |
Het |
Kmt2d |
T |
A |
15: 98,755,429 (GRCm39) |
|
probably benign |
Het |
Krtap2-4 |
A |
T |
11: 99,505,353 (GRCm39) |
V86E |
probably damaging |
Het |
Lgr6 |
C |
G |
1: 134,915,717 (GRCm39) |
V344L |
probably damaging |
Het |
Lime1 |
A |
T |
2: 181,024,849 (GRCm39) |
R168W |
possibly damaging |
Het |
Macroh2a1 |
A |
T |
13: 56,222,134 (GRCm39) |
M339K |
probably damaging |
Het |
Magel2 |
C |
T |
7: 62,030,605 (GRCm39) |
Q1170* |
probably null |
Het |
Ndufaf3 |
A |
T |
9: 108,443,210 (GRCm39) |
I169N |
probably damaging |
Het |
Neb |
T |
A |
2: 52,174,357 (GRCm39) |
K1501* |
probably null |
Het |
Nim1k |
A |
T |
13: 120,173,687 (GRCm39) |
S402R |
probably benign |
Het |
Nt5dc2 |
T |
G |
14: 30,860,158 (GRCm39) |
S395R |
probably damaging |
Het |
Oaz2 |
G |
T |
9: 65,596,143 (GRCm39) |
V132L |
probably benign |
Het |
Or2t45 |
T |
A |
11: 58,669,631 (GRCm39) |
L226H |
probably damaging |
Het |
Or4l1 |
A |
T |
14: 50,166,096 (GRCm39) |
W302R |
probably benign |
Het |
Or5b104 |
T |
A |
19: 13,072,167 (GRCm39) |
I282F |
probably damaging |
Het |
Or7g25 |
C |
T |
9: 19,159,877 (GRCm39) |
V273I |
probably benign |
Het |
Or8k39 |
T |
C |
2: 86,563,026 (GRCm39) |
K310R |
probably benign |
Het |
Pfkl |
A |
G |
10: 77,824,554 (GRCm39) |
V717A |
probably benign |
Het |
Phf8-ps |
T |
C |
17: 33,286,662 (GRCm39) |
I47V |
probably benign |
Het |
Phgdh |
C |
T |
3: 98,228,063 (GRCm39) |
V231I |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,635,935 (GRCm39) |
M465K |
probably damaging |
Het |
Ppp3r1 |
A |
G |
11: 17,148,281 (GRCm39) |
H163R |
probably benign |
Het |
Prune2 |
T |
A |
19: 17,099,537 (GRCm39) |
N1680K |
probably benign |
Het |
Puf60 |
T |
A |
15: 75,943,724 (GRCm39) |
I216L |
probably benign |
Het |
Rev3l |
T |
A |
10: 39,675,881 (GRCm39) |
N190K |
probably benign |
Het |
Rp1 |
G |
A |
1: 4,419,312 (GRCm39) |
S600L |
probably benign |
Het |
Rpl3l |
A |
G |
17: 24,952,430 (GRCm39) |
I217V |
probably benign |
Het |
Scly |
T |
A |
1: 91,236,102 (GRCm39) |
V194D |
probably damaging |
Het |
Scnn1b |
A |
G |
7: 121,517,184 (GRCm39) |
T607A |
probably benign |
Het |
Slc13a3 |
G |
A |
2: 165,287,439 (GRCm39) |
L172F |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,258,733 (GRCm39) |
Y1090C |
probably damaging |
Het |
Spag17 |
T |
A |
3: 99,918,070 (GRCm39) |
M351K |
probably benign |
Het |
St14 |
A |
G |
9: 31,011,460 (GRCm39) |
Y444H |
probably damaging |
Het |
Taf8 |
C |
A |
17: 47,809,136 (GRCm39) |
A109S |
probably benign |
Het |
Tbc1d30 |
T |
A |
10: 121,103,525 (GRCm39) |
K502N |
probably damaging |
Het |
Them5 |
T |
C |
3: 94,251,796 (GRCm39) |
S136P |
probably benign |
Het |
Tmem248 |
T |
A |
5: 130,260,769 (GRCm39) |
N111K |
probably damaging |
Het |
Tmem74 |
C |
A |
15: 43,730,348 (GRCm39) |
V232L |
probably damaging |
Het |
Tnip2 |
A |
T |
5: 34,657,012 (GRCm39) |
H264Q |
probably benign |
Het |
Trim5 |
A |
G |
7: 103,915,023 (GRCm39) |
|
probably null |
Het |
Trim63 |
A |
G |
4: 134,050,349 (GRCm39) |
Q211R |
probably benign |
Het |
Trrap |
T |
C |
5: 144,759,513 (GRCm39) |
V2231A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,565,831 (GRCm39) |
S28174G |
probably benign |
Het |
Ugt2b36 |
T |
C |
5: 87,229,440 (GRCm39) |
D341G |
possibly damaging |
Het |
Uroc1 |
G |
A |
6: 90,313,901 (GRCm39) |
E63K |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,643,382 (GRCm39) |
V4248A |
probably benign |
Het |
Usp1 |
A |
G |
4: 98,822,435 (GRCm39) |
H583R |
probably damaging |
Het |
Usp8 |
T |
A |
2: 126,561,971 (GRCm39) |
F55Y |
probably damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,306,040 (GRCm39) |
T513S |
probably benign |
Het |
Wdr73 |
T |
C |
7: 80,541,526 (GRCm39) |
T339A |
probably damaging |
Het |
Wnt2 |
T |
A |
6: 18,008,639 (GRCm39) |
N266I |
possibly damaging |
Het |
Wwp2 |
AGAACT |
A |
8: 108,233,031 (GRCm39) |
|
probably null |
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 |
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 |
R7586:Cntn3
|
UTSW |
6 |
102,397,388 (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'- TGCTTTTCAAATGAATGCACAAACTCACT -3'
(R):5'- cctccgtcaaaacaagaaTTTAGTCTTCACA -3'
Sequencing Primer
(F):5'- CCAAAGCTGTTGCTTACCATAG -3'
(R):5'- AGCCTTTCGGTGTTGAGTCT -3'
|
Posted On |
2014-05-23 |