Incidental Mutation 'R1144:Cntn3'
| ID |
102259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn3
|
| Ensembl Gene |
ENSMUSG00000030075 |
| Gene Name |
contactin 3 |
| Synonyms |
Pang |
| MMRRC Submission |
039217-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1144 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102219087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 511
(V511A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032159]
[ENSMUST00000203619]
|
| AlphaFold |
Q07409 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032159
AA Change: V511A
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: V511A
| 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 |
possibly damaging
Transcript: ENSMUST00000203619
AA Change: V511A
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: V511A
| 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 |
|
| Meta Mutation Damage Score |
0.1632 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
C |
T |
7: 119,960,083 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,241,188 (GRCm39) |
|
probably benign |
Het |
| Acsl5 |
A |
C |
19: 55,280,275 (GRCm39) |
D516A |
probably damaging |
Het |
| Adcy1 |
G |
A |
11: 7,087,400 (GRCm39) |
A425T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,818,475 (GRCm39) |
T107A |
probably benign |
Het |
| Arhgef33 |
T |
C |
17: 80,662,473 (GRCm39) |
S219P |
probably benign |
Het |
| Atm |
T |
G |
9: 53,422,998 (GRCm39) |
|
probably benign |
Het |
| C1ql2 |
A |
C |
1: 120,270,266 (GRCm39) |
Y276S |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,527,595 (GRCm39) |
|
probably null |
Het |
| Cmbl |
A |
G |
15: 31,582,020 (GRCm39) |
N6D |
probably benign |
Het |
| Coq9 |
C |
A |
8: 95,569,251 (GRCm39) |
R28S |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,460,922 (GRCm39) |
F20S |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,623,764 (GRCm39) |
K404E |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,052,131 (GRCm39) |
I244K |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,362,238 (GRCm39) |
E3700K |
probably damaging |
Het |
| Dnmt3l |
T |
A |
10: 77,887,739 (GRCm39) |
C110S |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr1 |
T |
G |
8: 26,048,159 (GRCm39) |
V172G |
probably damaging |
Het |
| Frem3 |
C |
A |
8: 81,338,513 (GRCm39) |
Q269K |
probably benign |
Het |
| Frmd6 |
C |
A |
12: 70,923,942 (GRCm39) |
H67N |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,341,929 (GRCm39) |
T1532A |
possibly damaging |
Het |
| Git2 |
G |
T |
5: 114,891,375 (GRCm39) |
S243R |
probably benign |
Het |
| Grid1 |
A |
G |
14: 35,284,633 (GRCm39) |
|
probably benign |
Het |
| Grp |
A |
G |
18: 66,013,041 (GRCm39) |
D69G |
probably damaging |
Het |
| Hmbox1 |
A |
T |
14: 65,063,132 (GRCm39) |
L347Q |
probably damaging |
Het |
| Hsh2d |
C |
T |
8: 72,947,436 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,333,897 (GRCm39) |
S2018N |
probably benign |
Het |
| Kif13b |
T |
A |
14: 64,951,566 (GRCm39) |
V69D |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lmcd1 |
T |
A |
6: 112,287,712 (GRCm39) |
|
probably benign |
Het |
| Megf9 |
C |
A |
4: 70,452,861 (GRCm39) |
A67S |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,758,658 (GRCm39) |
R213H |
probably damaging |
Het |
| Myo5c |
T |
A |
9: 75,193,730 (GRCm39) |
Y1162N |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,181,103 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
G |
A |
3: 87,688,849 (GRCm39) |
T568I |
probably damaging |
Het |
| Pcmtd1 |
A |
G |
1: 7,190,705 (GRCm39) |
H58R |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,590,695 (GRCm39) |
D74G |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,174,091 (GRCm39) |
I1168N |
possibly damaging |
Het |
| Ppm1h |
A |
G |
10: 122,777,183 (GRCm39) |
D483G |
probably benign |
Het |
| Prdm15 |
G |
A |
16: 97,609,908 (GRCm39) |
R579C |
probably damaging |
Het |
| Prickle1 |
T |
A |
15: 93,410,342 (GRCm39) |
R41W |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,261,081 (GRCm39) |
D235G |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,772,638 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
C |
1: 93,208,298 (GRCm39) |
G785R |
probably damaging |
Het |
| Stat4 |
A |
G |
1: 52,123,288 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,013,298 (GRCm39) |
F2830I |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,963,200 (GRCm39) |
D304G |
possibly damaging |
Het |
| Thsd7a |
G |
A |
6: 12,471,026 (GRCm39) |
|
probably benign |
Het |
| Tmem63b |
T |
A |
17: 45,977,353 (GRCm39) |
K383N |
probably benign |
Het |
| Trp53rka |
C |
A |
2: 165,334,961 (GRCm39) |
|
probably benign |
Het |
| Trub1 |
G |
A |
19: 57,473,563 (GRCm39) |
V207M |
probably benign |
Het |
| Ulk2 |
A |
T |
11: 61,690,886 (GRCm39) |
C551S |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,573,206 (GRCm39) |
|
probably null |
Het |
| Vmn1r219 |
C |
A |
13: 23,347,383 (GRCm39) |
Q191K |
probably damaging |
Het |
| Vmn2r1 |
A |
T |
3: 63,997,541 (GRCm39) |
D399V |
probably damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,312,098 (GRCm39) |
|
probably benign |
Het |
| Wars1 |
A |
T |
12: 108,854,291 (GRCm39) |
L41* |
probably null |
Het |
| Washc2 |
G |
A |
6: 116,201,495 (GRCm39) |
E64K |
probably damaging |
Het |
| Washc4 |
G |
A |
10: 83,416,194 (GRCm39) |
R828Q |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,213,576 (GRCm39) |
M313K |
probably benign |
Het |
| Wscd2 |
G |
A |
5: 113,699,151 (GRCm39) |
|
probably null |
Het |
| Zdhhc20 |
A |
C |
14: 58,094,135 (GRCm39) |
L176V |
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation