Incidental Mutation 'R8827:Cntn3'
| ID |
673534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn3
|
| Ensembl Gene |
ENSMUSG00000030075 |
| Gene Name |
contactin 3 |
| Synonyms |
Pang |
| MMRRC Submission |
068658-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8827 (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 C
at 102246094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 352
(L352V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032159]
[ENSMUST00000203619]
|
| AlphaFold |
Q07409 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032159
AA Change: L352V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: L352V
| 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 benign
Transcript: ENSMUST00000203619
AA Change: L352V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: L352V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 89,839,324 (GRCm39) |
I810V |
probably benign |
Het |
| Adcy7 |
T |
C |
8: 89,036,327 (GRCm39) |
F128S |
possibly damaging |
Het |
| Ankhd1 |
C |
T |
18: 36,757,633 (GRCm39) |
Q188* |
probably null |
Het |
| Asxl2 |
A |
T |
12: 3,550,501 (GRCm39) |
I748L |
probably benign |
Het |
| Atp8b2 |
T |
C |
3: 89,853,307 (GRCm39) |
N70S |
|
Het |
| Bmp1 |
A |
G |
14: 70,728,082 (GRCm39) |
Y616H |
probably damaging |
Het |
| Brap |
T |
A |
5: 121,810,261 (GRCm39) |
D248E |
probably benign |
Het |
| Ccdc13 |
G |
A |
9: 121,645,765 (GRCm39) |
S294L |
probably benign |
Het |
| Cdkl1 |
T |
C |
12: 69,794,123 (GRCm39) |
Y338C |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,774,110 (GRCm39) |
S1993T |
unknown |
Het |
| Chl1 |
G |
T |
6: 103,670,111 (GRCm39) |
M500I |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,890,535 (GRCm39) |
D635G |
probably benign |
Het |
| Col22a1 |
C |
A |
15: 71,774,665 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
A |
T |
5: 145,387,008 (GRCm39) |
D327E |
probably benign |
Het |
| D6Ertd527e |
A |
T |
6: 87,088,226 (GRCm39) |
S130C |
unknown |
Het |
| Dhodh |
T |
C |
8: 110,334,928 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
C |
T |
17: 84,955,079 (GRCm39) |
S246L |
possibly damaging |
Het |
| Eif3c |
A |
T |
7: 126,157,894 (GRCm39) |
F316Y |
probably damaging |
Het |
| Esp34 |
A |
T |
17: 38,865,091 (GRCm39) |
|
probably benign |
Het |
| Fam98a |
T |
C |
17: 75,851,824 (GRCm39) |
M86V |
possibly damaging |
Het |
| Gm29394 |
G |
T |
15: 57,932,717 (GRCm39) |
Q7K |
probably damaging |
Het |
| Gtf2i |
C |
T |
5: 134,269,096 (GRCm39) |
|
probably null |
Het |
| H2bc27 |
C |
T |
11: 58,839,917 (GRCm39) |
P51L |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,438,720 (GRCm39) |
Y888H |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,417,548 (GRCm39) |
W894R |
probably damaging |
Het |
| Klhl25 |
C |
A |
7: 75,516,391 (GRCm39) |
D432E |
possibly damaging |
Het |
| Klhl7 |
G |
A |
5: 24,363,635 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
A |
T |
1: 153,097,424 (GRCm39) |
L1540Q |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,003 (GRCm39) |
V358E |
probably damaging |
Het |
| Map4k5 |
C |
T |
12: 69,903,635 (GRCm39) |
D57N |
possibly damaging |
Het |
| Mpped2 |
T |
C |
2: 106,691,928 (GRCm39) |
M211T |
possibly damaging |
Het |
| Nat9 |
T |
C |
11: 115,075,339 (GRCm39) |
T101A |
probably benign |
Het |
| Nprl3 |
A |
T |
11: 32,184,742 (GRCm39) |
F447L |
probably benign |
Het |
| Nup50l |
G |
T |
6: 96,142,293 (GRCm39) |
N250K |
probably benign |
Het |
| Or4p22 |
T |
C |
2: 88,317,165 (GRCm39) |
S30P |
probably damaging |
Het |
| Or5h24 |
G |
A |
16: 58,919,061 (GRCm39) |
T98I |
unknown |
Het |
| Or5w16 |
C |
T |
2: 87,576,777 (GRCm39) |
P79L |
possibly damaging |
Het |
| Orc3 |
A |
T |
4: 34,605,569 (GRCm39) |
F104Y |
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,102,802 (GRCm39) |
V665E |
probably damaging |
Het |
| Pdpk1 |
T |
C |
17: 24,307,191 (GRCm39) |
D380G |
probably benign |
Het |
| Phkg1 |
T |
A |
5: 129,893,894 (GRCm39) |
E280D |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,699,732 (GRCm39) |
Y2068F |
possibly damaging |
Het |
| Plekhg5 |
A |
G |
4: 152,191,462 (GRCm39) |
|
probably benign |
Het |
| Plekhh3 |
G |
A |
11: 101,058,380 (GRCm39) |
P222L |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,334,476 (GRCm39) |
V10E |
probably benign |
Het |
| Prdm6 |
G |
T |
18: 53,701,267 (GRCm39) |
Q513H |
probably damaging |
Het |
| Pros1 |
T |
C |
16: 62,746,827 (GRCm39) |
V593A |
probably benign |
Het |
| Radil |
T |
C |
5: 142,493,859 (GRCm39) |
H250R |
probably damaging |
Het |
| Rasa2 |
C |
T |
9: 96,434,403 (GRCm39) |
R628Q |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,572,934 (GRCm39) |
E4884G |
possibly damaging |
Het |
| Shh |
A |
G |
5: 28,663,125 (GRCm39) |
S348P |
probably damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,270,237 (GRCm39) |
|
probably benign |
Het |
| Slc32a1 |
A |
C |
2: 158,453,274 (GRCm39) |
D38A |
probably damaging |
Het |
| Slc35f3 |
TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,780 (GRCm39) |
|
probably benign |
Het |
| Slc45a4 |
A |
T |
15: 73,458,316 (GRCm39) |
I411N |
probably benign |
Het |
| Slc49a4 |
A |
T |
16: 35,554,320 (GRCm39) |
C274S |
probably benign |
Het |
| Slc7a10 |
C |
A |
7: 34,897,313 (GRCm39) |
S248Y |
probably damaging |
Het |
| Smc3 |
T |
A |
19: 53,611,085 (GRCm39) |
D258E |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,129,617 (GRCm39) |
Q1131L |
probably benign |
Het |
| Sphk1 |
A |
G |
11: 116,426,590 (GRCm39) |
D182G |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,716,302 (GRCm39) |
Y633H |
probably damaging |
Het |
| Sspo |
T |
G |
6: 48,434,606 (GRCm39) |
F1033V |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,095,357 (GRCm39) |
V488A |
probably benign |
Het |
| Tead1 |
A |
C |
7: 112,475,449 (GRCm39) |
K299N |
probably damaging |
Het |
| Tmem150c |
A |
C |
5: 100,240,654 (GRCm39) |
S69R |
probably damaging |
Het |
| Tnfaip3 |
T |
A |
10: 18,880,795 (GRCm39) |
K424M |
probably damaging |
Het |
| Trib3 |
A |
G |
2: 152,180,188 (GRCm39) |
V335A |
possibly damaging |
Het |
| Ttc39c |
G |
A |
18: 12,828,436 (GRCm39) |
V199I |
probably benign |
Het |
| Vangl1 |
A |
T |
3: 102,070,736 (GRCm39) |
F400Y |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,487,868 (GRCm39) |
S844T |
probably benign |
Het |
| Wwtr1 |
A |
G |
3: 57,482,616 (GRCm39) |
V77A |
probably damaging |
Het |
| Yju2b |
T |
A |
8: 84,986,987 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Zc3h4 |
C |
A |
7: 16,163,123 (GRCm39) |
P500T |
unknown |
Het |
| Zfand2a |
C |
T |
5: 139,460,607 (GRCm39) |
|
probably null |
Het |
| Zfr2 |
A |
G |
10: 81,078,619 (GRCm39) |
T284A |
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 |
|
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 |
|
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'- CACTGTCAGCTCTCCATGTG -3'
(R):5'- CCCACCTATGTTAATCTATGGATTG -3'
Sequencing Primer
(F):5'- GTGTTTCTATGTCACAGAACCAC -3'
(R):5'- CAAAACCTTATTGGCTTCAAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation