Incidental Mutation 'R0388:Cntn3'
ID |
31410 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
MMRRC Submission |
038594-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0388 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102254277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 222
(M222V)
|
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: M222V
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: M222V
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: M222V
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: M222V
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
|
Meta Mutation Damage Score |
0.0914 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
Acsbg1 |
T |
C |
9: 54,516,347 (GRCm39) |
K678R |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,326,402 (GRCm39) |
I410T |
probably benign |
Het |
Afap1l2 |
A |
C |
19: 56,905,674 (GRCm39) |
|
probably benign |
Het |
Aox1 |
T |
C |
1: 58,393,565 (GRCm39) |
Y1242H |
probably damaging |
Het |
Apoo-ps |
T |
C |
13: 107,551,173 (GRCm39) |
|
noncoding transcript |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Cdh3 |
C |
A |
8: 107,265,761 (GRCm39) |
T268K |
probably damaging |
Het |
Chd5 |
T |
A |
4: 152,456,101 (GRCm39) |
H923Q |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,854,560 (GRCm39) |
V1967A |
probably benign |
Het |
Dcaf17 |
A |
G |
2: 70,908,915 (GRCm39) |
K277R |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,697,779 (GRCm39) |
|
probably benign |
Het |
Dmpk |
T |
A |
7: 18,818,002 (GRCm39) |
|
probably benign |
Het |
Dzank1 |
A |
T |
2: 144,318,026 (GRCm39) |
L714Q |
possibly damaging |
Het |
Efcab3 |
A |
G |
11: 105,000,227 (GRCm39) |
D272G |
possibly damaging |
Het |
Erbb2 |
G |
C |
11: 98,318,177 (GRCm39) |
R471P |
possibly damaging |
Het |
Esf1 |
T |
A |
2: 139,962,791 (GRCm39) |
Y760F |
possibly damaging |
Het |
Fanci |
C |
A |
7: 79,089,378 (GRCm39) |
T938K |
probably benign |
Het |
Gnai3 |
A |
G |
3: 108,023,073 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
T |
A |
4: 137,238,469 (GRCm39) |
C319S |
probably damaging |
Het |
Il12a |
T |
A |
3: 68,602,520 (GRCm39) |
|
probably null |
Het |
Inpp4a |
A |
G |
1: 37,435,241 (GRCm39) |
D837G |
probably damaging |
Het |
Kcnj5 |
T |
A |
9: 32,229,159 (GRCm39) |
E13V |
probably damaging |
Het |
Kcnq3 |
T |
A |
15: 65,871,887 (GRCm39) |
Y594F |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,582,857 (GRCm39) |
E556G |
probably damaging |
Het |
Kif28 |
T |
C |
1: 179,567,654 (GRCm39) |
I39V |
possibly damaging |
Het |
Lgi2 |
T |
C |
5: 52,711,891 (GRCm39) |
E143G |
probably damaging |
Het |
Mast1 |
T |
G |
8: 85,642,166 (GRCm39) |
I1063L |
probably benign |
Het |
Med12l |
T |
C |
3: 59,000,925 (GRCm39) |
|
probably benign |
Het |
Mmp19 |
G |
T |
10: 128,634,752 (GRCm39) |
R456L |
probably benign |
Het |
Mon1b |
T |
A |
8: 114,365,710 (GRCm39) |
V346E |
probably damaging |
Het |
Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
Mrgpra9 |
A |
T |
7: 46,902,542 (GRCm39) |
M1K |
probably null |
Het |
Mycbp2 |
A |
T |
14: 103,394,103 (GRCm39) |
H2819Q |
probably benign |
Het |
Nav1 |
A |
C |
1: 135,376,655 (GRCm39) |
|
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,802,559 (GRCm39) |
|
probably benign |
Het |
Ntng2 |
G |
C |
2: 29,097,438 (GRCm39) |
P341R |
probably damaging |
Het |
Oas1d |
A |
T |
5: 121,055,091 (GRCm39) |
Y221F |
probably damaging |
Het |
Or1j19 |
C |
A |
2: 36,676,874 (GRCm39) |
D112E |
probably benign |
Het |
Or1l4 |
A |
C |
2: 37,092,196 (GRCm39) |
|
probably null |
Het |
Or5al6 |
A |
G |
2: 85,976,974 (GRCm39) |
Y35H |
probably damaging |
Het |
Osbpl8 |
A |
G |
10: 111,108,143 (GRCm39) |
M380V |
probably benign |
Het |
Pank1 |
T |
C |
19: 34,799,106 (GRCm39) |
|
probably benign |
Het |
Parn |
T |
C |
16: 13,472,340 (GRCm39) |
D169G |
possibly damaging |
Het |
Pknox1 |
T |
A |
17: 31,822,166 (GRCm39) |
I311N |
probably damaging |
Het |
Pprc1 |
T |
C |
19: 46,051,214 (GRCm39) |
V248A |
possibly damaging |
Het |
Prkcq |
T |
C |
2: 11,259,045 (GRCm39) |
C322R |
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,702,928 (GRCm39) |
I1298N |
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,288,046 (GRCm39) |
S36P |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Sass6 |
C |
A |
3: 116,400,957 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
G |
A |
5: 93,099,152 (GRCm39) |
G1463D |
probably benign |
Het |
Slc35d1 |
A |
T |
4: 103,042,084 (GRCm39) |
Y249* |
probably null |
Het |
Slc9a3 |
C |
T |
13: 74,269,655 (GRCm39) |
P8S |
unknown |
Het |
Slc9a9 |
T |
A |
9: 94,821,616 (GRCm39) |
|
probably null |
Het |
Sting1 |
A |
G |
18: 35,868,164 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
A |
12: 76,033,749 (GRCm39) |
M3666K |
probably benign |
Het |
Synpo2 |
A |
G |
3: 122,873,546 (GRCm39) |
V1140A |
probably benign |
Het |
Thada |
A |
G |
17: 84,538,524 (GRCm39) |
F1495L |
probably benign |
Het |
Timeless |
A |
G |
10: 128,077,294 (GRCm39) |
|
probably null |
Het |
Tlr6 |
G |
T |
5: 65,112,548 (GRCm39) |
H120N |
possibly damaging |
Het |
Tns3 |
T |
C |
11: 8,395,703 (GRCm39) |
I1234V |
probably benign |
Het |
Ttll9 |
A |
G |
2: 152,842,099 (GRCm39) |
S318G |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,830,197 (GRCm39) |
|
probably benign |
Het |
Zfp933 |
T |
C |
4: 147,910,899 (GRCm39) |
I232M |
probably benign |
Het |
Zfyve27 |
T |
C |
19: 42,178,024 (GRCm39) |
S382P |
probably damaging |
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 |
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 |
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'- CATATGACGTGCAAGTGCAAAAGACTG -3'
(R):5'- TGTGACTGGGCTACCATTTAGCAAAAC -3'
Sequencing Primer
(F):5'- TCAAGTCAGGATTAAGGGTTGC -3'
(R):5'- GCATATTGCAGCACTTTTGAC -3'
|
Posted On |
2013-04-24 |