Incidental Mutation 'R9762:Cntn3'
ID |
733064 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9762 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102254196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 249
(C249R)
|
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: C249R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: C249R
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: C249R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: C249R
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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
G |
T |
19: 57,025,691 (GRCm39) |
R851S |
probably damaging |
Het |
Acap2 |
C |
A |
16: 30,929,763 (GRCm39) |
A407S |
probably damaging |
Het |
Adam26a |
A |
T |
8: 44,021,635 (GRCm39) |
S618R |
probably benign |
Het |
Adamtsl5 |
T |
C |
10: 80,180,896 (GRCm39) |
Y89C |
probably damaging |
Het |
Aebp2 |
T |
A |
6: 140,588,021 (GRCm39) |
S364T |
probably damaging |
Het |
Ankfy1 |
A |
G |
11: 72,621,401 (GRCm39) |
E229G |
probably benign |
Het |
Arhgap27 |
G |
T |
11: 103,251,511 (GRCm39) |
D72E |
probably benign |
Het |
Arhgap33 |
T |
C |
7: 30,230,950 (GRCm39) |
E191G |
probably null |
Het |
Atp6v0a1 |
C |
T |
11: 100,946,427 (GRCm39) |
H807Y |
possibly damaging |
Het |
Ccdc113 |
A |
C |
8: 96,272,605 (GRCm39) |
E237D |
probably benign |
Het |
Cd200r2 |
T |
A |
16: 44,729,420 (GRCm39) |
I25K |
probably benign |
Het |
Cd300c2 |
A |
G |
11: 114,887,775 (GRCm39) |
V209A |
probably damaging |
Het |
Cdkn2d |
T |
A |
9: 21,200,383 (GRCm39) |
E129D |
probably benign |
Het |
Cfap251 |
A |
G |
5: 123,460,533 (GRCm39) |
Y1165C |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,712,741 (GRCm39) |
N855Y |
unknown |
Het |
Col12a1 |
T |
C |
9: 79,527,266 (GRCm39) |
E2688G |
possibly damaging |
Het |
Copb2 |
C |
T |
9: 98,464,901 (GRCm39) |
T612I |
probably benign |
Het |
Cplx1 |
A |
T |
5: 108,673,378 (GRCm39) |
D29E |
possibly damaging |
Het |
Cracd |
A |
G |
5: 77,006,555 (GRCm39) |
K972R |
unknown |
Het |
Cstf3 |
A |
T |
2: 104,494,684 (GRCm39) |
R645* |
probably null |
Het |
Ctdp1 |
A |
T |
18: 80,492,550 (GRCm39) |
Y648* |
probably null |
Het |
Daam1 |
T |
A |
12: 71,990,855 (GRCm39) |
D156E |
unknown |
Het |
Dbn1 |
G |
A |
13: 55,622,824 (GRCm39) |
P599L |
probably damaging |
Het |
Diaph1 |
C |
A |
18: 37,987,589 (GRCm39) |
V1056F |
probably damaging |
Het |
Dzip3 |
A |
T |
16: 48,748,707 (GRCm39) |
D870E |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,800,331 (GRCm39) |
T231A |
possibly damaging |
Het |
Efl1 |
A |
C |
7: 82,412,596 (GRCm39) |
D995A |
probably benign |
Het |
Fam186a |
T |
C |
15: 99,842,393 (GRCm39) |
T1284A |
possibly damaging |
Het |
Fbxo33 |
T |
C |
12: 59,251,708 (GRCm39) |
E269G |
probably benign |
Het |
Foxj3 |
T |
A |
4: 119,483,540 (GRCm39) |
M604K |
unknown |
Het |
Gabra4 |
A |
G |
5: 71,814,463 (GRCm39) |
S86P |
unknown |
Het |
Gnas |
G |
A |
2: 174,140,639 (GRCm39) |
W269* |
probably null |
Het |
Gpc6 |
T |
G |
14: 118,202,258 (GRCm39) |
N489K |
probably damaging |
Het |
Gprin3 |
T |
C |
6: 59,331,236 (GRCm39) |
K357R |
possibly damaging |
Het |
Grip1 |
G |
T |
10: 119,811,906 (GRCm39) |
A286S |
possibly damaging |
Het |
Grm4 |
A |
T |
17: 27,721,688 (GRCm39) |
V151E |
probably damaging |
Het |
Gucy1b1 |
A |
T |
3: 81,942,065 (GRCm39) |
S565T |
possibly damaging |
Het |
Hace1 |
T |
C |
10: 45,525,014 (GRCm39) |
V260A |
probably benign |
Het |
Hepacam2 |
A |
G |
6: 3,486,940 (GRCm39) |
I139T |
probably damaging |
Het |
Hspa4l |
T |
C |
3: 40,727,057 (GRCm39) |
I486T |
probably benign |
Het |
Igkv8-19 |
T |
C |
6: 70,317,866 (GRCm39) |
Y120C |
probably damaging |
Het |
Iglv2 |
C |
T |
16: 19,079,548 (GRCm39) |
|
probably benign |
Het |
Igsf10 |
A |
T |
3: 59,237,106 (GRCm39) |
L1025H |
probably damaging |
Het |
Itpkb |
A |
G |
1: 180,161,752 (GRCm39) |
N626S |
probably benign |
Het |
Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
Klc3 |
C |
T |
7: 19,132,023 (GRCm39) |
W118* |
probably null |
Het |
Klhl25 |
C |
T |
7: 75,516,741 (GRCm39) |
T549I |
probably damaging |
Het |
Krtap6-2 |
T |
A |
16: 89,216,763 (GRCm39) |
Y68F |
unknown |
Het |
Mtcl1 |
T |
C |
17: 66,673,347 (GRCm39) |
N1121D |
probably benign |
Het |
Ncbp3 |
A |
G |
11: 72,961,668 (GRCm39) |
K314R |
probably benign |
Het |
Nop2 |
T |
C |
6: 125,121,272 (GRCm39) |
W685R |
probably benign |
Het |
Orc1 |
T |
A |
4: 108,447,874 (GRCm39) |
D40E |
probably benign |
Het |
Pappa2 |
G |
T |
1: 158,684,948 (GRCm39) |
N730K |
probably damaging |
Het |
Parpbp |
A |
G |
10: 87,960,815 (GRCm39) |
S224P |
possibly damaging |
Het |
Pdgfc |
A |
G |
3: 80,944,792 (GRCm39) |
R17G |
probably benign |
Het |
Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
Pik3r6 |
T |
A |
11: 68,424,358 (GRCm39) |
L321* |
probably null |
Het |
Pnp2 |
T |
C |
14: 51,197,006 (GRCm39) |
W31R |
probably damaging |
Het |
Prr12 |
T |
C |
7: 44,696,954 (GRCm39) |
Y987C |
unknown |
Het |
Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
Prss23 |
T |
C |
7: 89,159,683 (GRCm39) |
I129V |
probably damaging |
Het |
Rhno1 |
T |
C |
6: 128,336,119 (GRCm39) |
T39A |
probably damaging |
Het |
Rps2 |
A |
T |
17: 24,940,810 (GRCm39) |
R279* |
probably null |
Het |
Ski |
T |
C |
4: 155,244,344 (GRCm39) |
K427R |
probably damaging |
Het |
Slc23a3 |
ATT |
ATTT |
1: 75,109,925 (GRCm39) |
|
probably null |
Het |
Slc26a7 |
C |
T |
4: 14,546,372 (GRCm39) |
G319D |
probably damaging |
Het |
Slc7a6os |
A |
G |
8: 106,937,523 (GRCm39) |
V8A |
probably damaging |
Het |
Smim8 |
A |
C |
4: 34,771,265 (GRCm39) |
I43S |
probably damaging |
Het |
Sox5 |
T |
C |
6: 143,819,842 (GRCm39) |
K400R |
probably damaging |
Het |
Tab1 |
G |
A |
15: 80,032,943 (GRCm39) |
V76M |
probably damaging |
Het |
Taf2 |
A |
C |
15: 54,894,440 (GRCm39) |
|
probably null |
Het |
Taf5 |
G |
A |
19: 47,059,434 (GRCm39) |
V193M |
probably damaging |
Het |
Tm2d1 |
A |
T |
4: 98,246,261 (GRCm39) |
S180R |
probably damaging |
Het |
Ttc12 |
A |
G |
9: 49,368,166 (GRCm39) |
F287S |
probably damaging |
Het |
Ubqln4 |
G |
A |
3: 88,473,185 (GRCm39) |
|
probably null |
Het |
Ubr3 |
T |
C |
2: 69,839,497 (GRCm39) |
V1537A |
probably benign |
Het |
Ugt8a |
A |
G |
3: 125,708,900 (GRCm39) |
L70P |
probably damaging |
Het |
Vps26a |
A |
T |
10: 62,316,433 (GRCm39) |
N51K |
probably benign |
Het |
Xkr5 |
T |
A |
8: 18,990,749 (GRCm39) |
T173S |
probably benign |
Het |
Zfp354c |
A |
G |
11: 50,706,239 (GRCm39) |
C279R |
probably damaging |
Het |
Zfp65 |
T |
A |
13: 67,856,478 (GRCm39) |
H267L |
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 |
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 |
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 |
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'- GTCAGGATTAAGGGTTGCAAAC -3'
(R):5'- TGCAACCACTGAAAGTTGGTTC -3'
Sequencing Primer
(F):5'- TCAGGATTAAGGGTTGCAAACAGTAG -3'
(R):5'- CAACCACTGAAAGTTGGTTCAAAAG -3'
|
Posted On |
2022-11-14 |