Incidental Mutation 'R6490:Cntn3'
ID |
522750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
MMRRC Submission |
044622-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6490 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 102255301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 199
(T199I)
|
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: T199I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: T199I
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: T199I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: T199I
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
T |
G |
8: 122,267,293 (GRCm39) |
K38T |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,248,661 (GRCm39) |
T2803A |
probably benign |
Het |
Adam23 |
A |
G |
1: 63,596,613 (GRCm39) |
D565G |
probably damaging |
Het |
Adcy3 |
A |
G |
12: 4,262,150 (GRCm39) |
T1067A |
probably damaging |
Het |
Agrn |
A |
T |
4: 156,251,819 (GRCm39) |
Y1921* |
probably null |
Het |
Apc2 |
A |
G |
10: 80,149,757 (GRCm39) |
N1604D |
probably benign |
Het |
Atxn7 |
A |
T |
14: 14,089,446 (GRCm38) |
R321* |
probably null |
Het |
Axin1 |
T |
A |
17: 26,361,968 (GRCm39) |
I104N |
probably damaging |
Het |
Bahd1 |
T |
C |
2: 118,747,619 (GRCm39) |
S413P |
probably benign |
Het |
Baz2b |
C |
T |
2: 59,732,073 (GRCm39) |
C2024Y |
probably damaging |
Het |
Cacna1i |
T |
A |
15: 80,262,448 (GRCm39) |
V1388E |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,876,090 (GRCm39) |
V544M |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,952,191 (GRCm39) |
L569* |
probably null |
Het |
Ctnna2 |
A |
G |
6: 77,120,892 (GRCm39) |
I12T |
probably benign |
Het |
Dhx37 |
A |
G |
5: 125,496,196 (GRCm39) |
M754T |
probably benign |
Het |
Dmrt1 |
T |
A |
19: 25,523,395 (GRCm39) |
S249T |
possibly damaging |
Het |
Ell |
G |
T |
8: 71,025,553 (GRCm39) |
S59I |
probably damaging |
Het |
Fam89a |
G |
A |
8: 125,467,982 (GRCm39) |
S110F |
probably damaging |
Het |
Fer1l4 |
A |
C |
2: 155,889,834 (GRCm39) |
F278V |
possibly damaging |
Het |
Fyn |
T |
C |
10: 39,427,398 (GRCm39) |
I427T |
probably damaging |
Het |
Galnt14 |
T |
C |
17: 73,832,365 (GRCm39) |
D250G |
probably damaging |
Het |
Glp1r |
T |
C |
17: 31,143,546 (GRCm39) |
V194A |
probably damaging |
Het |
Glt1d1 |
T |
A |
5: 127,721,360 (GRCm39) |
|
probably null |
Het |
Gm7995 |
A |
G |
14: 42,133,327 (GRCm39) |
K69R |
probably benign |
Het |
Grip1 |
A |
G |
10: 119,822,329 (GRCm39) |
T379A |
possibly damaging |
Het |
Gtpbp2 |
G |
T |
17: 46,479,147 (GRCm39) |
A570S |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,459,029 (GRCm39) |
I5192V |
probably benign |
Het |
Igfl3 |
A |
T |
7: 17,913,844 (GRCm39) |
I65F |
possibly damaging |
Het |
Igsf10 |
G |
T |
3: 59,236,992 (GRCm39) |
T1063K |
probably benign |
Het |
Itfg1 |
A |
G |
8: 86,466,930 (GRCm39) |
V381A |
probably benign |
Het |
Itprid1 |
A |
G |
6: 55,953,405 (GRCm39) |
D907G |
probably damaging |
Het |
Jmjd8 |
T |
A |
17: 26,048,086 (GRCm39) |
V16E |
probably benign |
Het |
Kank1 |
A |
G |
19: 25,387,449 (GRCm39) |
Y374C |
probably damaging |
Het |
Kcnma1 |
C |
T |
14: 23,386,165 (GRCm39) |
V891I |
possibly damaging |
Het |
Kif20a |
C |
A |
18: 34,762,543 (GRCm39) |
T472K |
possibly damaging |
Het |
Klhl32 |
A |
T |
4: 24,711,578 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,347,486 (GRCm39) |
S3070P |
unknown |
Het |
Mettl21e |
T |
G |
1: 44,249,425 (GRCm39) |
Y77S |
probably damaging |
Het |
Mlst8 |
G |
T |
17: 24,696,935 (GRCm39) |
D82E |
probably benign |
Het |
Mrgprx2 |
A |
T |
7: 48,132,617 (GRCm39) |
L67Q |
probably damaging |
Het |
Mylk |
T |
A |
16: 34,750,237 (GRCm39) |
L1192Q |
possibly damaging |
Het |
Myt1l |
A |
T |
12: 29,882,365 (GRCm39) |
Y520F |
unknown |
Het |
Naip2 |
A |
T |
13: 100,297,193 (GRCm39) |
W948R |
probably benign |
Het |
Nlrp9a |
A |
C |
7: 26,250,311 (GRCm39) |
K25N |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,204,212 (GRCm39) |
C414R |
probably damaging |
Het |
Oit3 |
A |
T |
10: 59,274,374 (GRCm39) |
V142D |
possibly damaging |
Het |
Or2aj6 |
C |
T |
16: 19,443,194 (GRCm39) |
V219M |
probably benign |
Het |
P2ry6 |
T |
C |
7: 100,587,580 (GRCm39) |
T260A |
probably damaging |
Het |
Papola |
A |
G |
12: 105,771,196 (GRCm39) |
Q87R |
probably benign |
Het |
Pla2g4a |
T |
A |
1: 149,727,086 (GRCm39) |
R557* |
probably null |
Het |
Rgs13 |
G |
T |
1: 144,016,576 (GRCm39) |
H56N |
probably damaging |
Het |
Sbf1 |
T |
C |
15: 89,189,111 (GRCm39) |
S537G |
probably benign |
Het |
Sntg1 |
A |
C |
1: 8,653,508 (GRCm39) |
L243R |
possibly damaging |
Het |
Spata31h1 |
A |
T |
10: 82,125,138 (GRCm39) |
L2624Q |
possibly damaging |
Het |
Stam2 |
T |
C |
2: 52,610,954 (GRCm39) |
T23A |
probably benign |
Het |
Tbl1xr1 |
C |
A |
3: 22,258,141 (GRCm39) |
H467Q |
probably damaging |
Het |
Tmem131l |
A |
G |
3: 83,820,587 (GRCm39) |
S1222P |
possibly damaging |
Het |
Tmem43 |
G |
T |
6: 91,455,759 (GRCm39) |
Q123H |
probably damaging |
Het |
Tmem43 |
T |
A |
6: 91,463,862 (GRCm39) |
I379N |
possibly damaging |
Het |
Trim43c |
A |
T |
9: 88,727,003 (GRCm39) |
I277F |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,703,211 (GRCm39) |
|
probably benign |
Het |
Vmn1r75 |
T |
A |
7: 11,615,003 (GRCm39) |
V245D |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vps53 |
A |
T |
11: 75,967,881 (GRCm39) |
M414K |
probably benign |
Het |
Wrn |
T |
G |
8: 33,809,248 (GRCm39) |
L249F |
probably benign |
Het |
Zc3h13 |
TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT |
TGATGTCCGGGATGTCCGGGATGTCCGGGATGT |
14: 75,560,998 (GRCm39) |
|
probably benign |
Het |
Zfp454 |
T |
C |
11: 50,764,950 (GRCm39) |
N161D |
probably benign |
Het |
Zfp619 |
G |
A |
7: 39,183,586 (GRCm39) |
G60R |
probably benign |
Het |
Zfp623 |
T |
A |
15: 75,820,308 (GRCm39) |
H421Q |
probably damaging |
Het |
Zfp827 |
A |
G |
8: 79,916,606 (GRCm39) |
|
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 |
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'- GGTAATGCCACAGGACTTTTC -3'
(R):5'- TTCTTCTGAATGGCTGGCAAG -3'
Sequencing Primer
(F):5'- GGTAATGCCACAGGACTTTTCTTTAC -3'
(R):5'- TCTTCTGAATGGCTGGCAAGAAAAAG -3'
|
Posted On |
2018-06-06 |