Incidental Mutation 'R2351:Cntn3'
| ID |
246129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn3
|
| Ensembl Gene |
ENSMUSG00000030075 |
| Gene Name |
contactin 3 |
| Synonyms |
Pang |
| MMRRC Submission |
040333-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2351 (G1)
|
| Quality Score |
178 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102314344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 123
(N123K)
|
| 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: N123K
PolyPhen 2
Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: N123K
| 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: N123K
PolyPhen 2
Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: N123K
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
A |
T |
1: 138,779,846 (GRCm39) |
Y135* |
probably null |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,255,348 (GRCm39) |
Y256F |
probably damaging |
Het |
| Acad10 |
A |
T |
5: 121,767,990 (GRCm39) |
I820K |
probably benign |
Het |
| Arl8b |
A |
T |
6: 108,798,484 (GRCm39) |
I178F |
possibly damaging |
Het |
| Asap1 |
A |
T |
15: 64,007,653 (GRCm39) |
|
probably null |
Het |
| Atp2b2 |
A |
T |
6: 113,766,718 (GRCm39) |
I552N |
possibly damaging |
Het |
| C130074G19Rik |
G |
T |
1: 184,615,060 (GRCm39) |
D43E |
probably benign |
Het |
| Ccdc162 |
C |
A |
10: 41,431,968 (GRCm39) |
|
probably null |
Het |
| Ccdc186 |
T |
G |
19: 56,787,129 (GRCm39) |
K613T |
possibly damaging |
Het |
| Cggbp1 |
T |
A |
16: 64,676,046 (GRCm39) |
D37E |
possibly damaging |
Het |
| Col18a1 |
C |
T |
10: 76,948,538 (GRCm39) |
G325S |
probably benign |
Het |
| Cwc25 |
G |
T |
11: 97,638,218 (GRCm39) |
T405K |
probably damaging |
Het |
| Cyp4a31 |
T |
C |
4: 115,428,510 (GRCm39) |
V370A |
possibly damaging |
Het |
| Cyp4f13 |
T |
G |
17: 33,144,570 (GRCm39) |
I309L |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,840,870 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,403,301 (GRCm39) |
D3080E |
probably benign |
Het |
| Ern2 |
A |
G |
7: 121,770,731 (GRCm39) |
V762A |
probably damaging |
Het |
| Fgr |
C |
T |
4: 132,724,548 (GRCm39) |
R255C |
probably damaging |
Het |
| Gcm2 |
A |
T |
13: 41,257,094 (GRCm39) |
D218E |
probably benign |
Het |
| Gfi1 |
A |
G |
5: 107,869,640 (GRCm39) |
S131P |
probably damaging |
Het |
| Grm8 |
A |
T |
6: 28,126,118 (GRCm39) |
C3S |
possibly damaging |
Het |
| Gucy2d |
A |
G |
7: 98,113,226 (GRCm39) |
D840G |
probably benign |
Het |
| H3f3a |
T |
C |
1: 180,637,723 (GRCm39) |
T81A |
probably benign |
Het |
| Igsf23 |
C |
T |
7: 19,678,723 (GRCm39) |
W22* |
probably null |
Het |
| Il12rb2 |
G |
A |
6: 67,338,928 (GRCm39) |
Q3* |
probably null |
Het |
| Ino80d |
A |
T |
1: 63,124,994 (GRCm39) |
L156H |
probably benign |
Het |
| Kdm2a |
G |
A |
19: 4,379,154 (GRCm39) |
P554S |
probably benign |
Het |
| Lefty1 |
T |
A |
1: 180,764,807 (GRCm39) |
L244H |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,750,010 (GRCm39) |
S4398T |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,683,965 (GRCm39) |
D1126G |
probably damaging |
Het |
| Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
| Myom1 |
A |
T |
17: 71,341,574 (GRCm39) |
D111V |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,420,169 (GRCm39) |
D1367V |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,276,257 (GRCm39) |
H666L |
possibly damaging |
Het |
| Nsmaf |
T |
A |
4: 6,437,921 (GRCm39) |
I77F |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,958,357 (GRCm39) |
T231A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,003,438 (GRCm39) |
R1287G |
probably damaging |
Het |
| Opn3 |
T |
C |
1: 175,520,077 (GRCm39) |
D9G |
probably benign |
Het |
| Or4a81 |
T |
C |
2: 89,619,522 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or4c114 |
C |
T |
2: 88,904,743 (GRCm39) |
G231S |
possibly damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,883 (GRCm39) |
Y61* |
probably null |
Het |
| Or6c8b |
A |
G |
10: 128,882,797 (GRCm39) |
V45A |
probably benign |
Het |
| Or6k2 |
T |
A |
1: 173,986,486 (GRCm39) |
V49D |
probably damaging |
Het |
| Or8k24 |
C |
T |
2: 86,216,471 (GRCm39) |
C97Y |
probably damaging |
Het |
| Parp10 |
A |
T |
15: 76,127,056 (GRCm39) |
S101R |
probably benign |
Het |
| Pdhx |
T |
A |
2: 102,854,562 (GRCm39) |
K399* |
probably null |
Het |
| Pdia4 |
A |
T |
6: 47,773,848 (GRCm39) |
|
probably null |
Het |
| Pla2g4f |
T |
C |
2: 120,130,923 (GRCm39) |
D844G |
probably benign |
Het |
| Prtg |
C |
A |
9: 72,764,106 (GRCm39) |
D526E |
probably damaging |
Het |
| Rassf6 |
T |
C |
5: 90,779,418 (GRCm39) |
D5G |
probably benign |
Het |
| Riok3 |
C |
T |
18: 12,282,724 (GRCm39) |
Q388* |
probably null |
Het |
| Robo4 |
T |
A |
9: 37,322,956 (GRCm39) |
F825L |
probably benign |
Het |
| Rpl13a-ps1 |
C |
T |
19: 50,018,868 (GRCm39) |
E103K |
probably benign |
Het |
| Rpl18a |
A |
T |
8: 71,348,864 (GRCm39) |
H37Q |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,774,718 (GRCm39) |
S2301T |
probably benign |
Het |
| Slc39a9 |
T |
A |
12: 80,691,660 (GRCm39) |
D2E |
possibly damaging |
Het |
| Slco5a1 |
C |
T |
1: 13,060,158 (GRCm39) |
V188I |
probably benign |
Het |
| Son |
T |
A |
16: 91,454,547 (GRCm39) |
M1098K |
probably damaging |
Het |
| Spag9 |
A |
G |
11: 93,983,726 (GRCm39) |
D701G |
probably damaging |
Het |
| Ssmem1 |
T |
C |
6: 30,512,495 (GRCm39) |
F46S |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,441,803 (GRCm39) |
R1938W |
probably damaging |
Het |
| Sstr3 |
T |
C |
15: 78,424,121 (GRCm39) |
I209V |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,100,656 (GRCm39) |
Y87C |
probably damaging |
Het |
| Traf4 |
G |
A |
11: 78,051,002 (GRCm39) |
R385W |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,888,780 (GRCm39) |
V1962M |
probably benign |
Het |
| Tspan12 |
T |
G |
6: 21,835,506 (GRCm39) |
I56L |
probably benign |
Het |
| Upp2 |
T |
A |
2: 58,653,674 (GRCm39) |
|
probably null |
Het |
| Vps13b |
T |
C |
15: 35,869,457 (GRCm39) |
W2654R |
probably damaging |
Het |
| Zc3h18 |
C |
T |
8: 123,129,926 (GRCm39) |
R435* |
probably null |
Het |
| Zfta |
T |
C |
19: 7,399,609 (GRCm39) |
I247T |
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 |
|
|
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'- AAACCTCAGAAATAGCCGTGG -3'
(R):5'- AGCAACATGGGACTCGTGTG -3'
Sequencing Primer
(F):5'- CCTCAGAAATAGCCGTGGGTTATG -3'
(R):5'- ACAGCTGATTTCCTTGAAGGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation