Incidental Mutation 'R0483:Cntn3'
ID |
42111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
MMRRC Submission |
038683-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0483 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 102180927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 756
(P756Q)
|
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: P756Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: P756Q
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: P756Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: P756Q
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
99% (89/90) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500009L16Rik |
G |
A |
10: 83,595,502 (GRCm39) |
|
probably benign |
Het |
1700048O20Rik |
A |
T |
9: 121,769,769 (GRCm39) |
|
noncoding transcript |
Het |
AA986860 |
A |
G |
1: 130,671,562 (GRCm39) |
R595G |
probably damaging |
Het |
Acrbp |
C |
A |
6: 125,031,759 (GRCm39) |
F353L |
possibly damaging |
Het |
Adamts20 |
T |
A |
15: 94,251,452 (GRCm39) |
Q445L |
probably benign |
Het |
Adgrg5 |
A |
G |
8: 95,660,136 (GRCm39) |
D26G |
possibly damaging |
Het |
Atad2b |
A |
T |
12: 4,995,035 (GRCm39) |
|
probably benign |
Het |
Atg2a |
G |
T |
19: 6,306,631 (GRCm39) |
G1439C |
probably damaging |
Het |
Atg2a |
G |
T |
19: 6,306,632 (GRCm39) |
G1439V |
probably benign |
Het |
B3galt1 |
G |
A |
2: 67,948,932 (GRCm39) |
V216I |
probably benign |
Het |
Bmerb1 |
T |
C |
16: 13,913,803 (GRCm39) |
*113R |
probably null |
Het |
C2cd2 |
A |
G |
16: 97,660,788 (GRCm39) |
|
probably benign |
Het |
Cacna2d1 |
G |
A |
5: 16,564,025 (GRCm39) |
V884M |
probably damaging |
Het |
Cers5 |
C |
A |
15: 99,643,795 (GRCm39) |
C22F |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,924,307 (GRCm39) |
C14F |
probably benign |
Het |
Col4a1 |
T |
C |
8: 11,286,423 (GRCm39) |
|
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,693,777 (GRCm39) |
|
probably null |
Het |
Cox5b |
G |
A |
1: 36,731,636 (GRCm39) |
|
probably null |
Het |
Cwc27 |
C |
A |
13: 104,947,724 (GRCm39) |
|
probably null |
Het |
Cyp27b1 |
A |
C |
10: 126,886,026 (GRCm39) |
M260L |
probably benign |
Het |
Ddx19b |
A |
T |
8: 111,735,310 (GRCm39) |
N465K |
probably benign |
Het |
Depdc1b |
T |
C |
13: 108,510,382 (GRCm39) |
V298A |
probably benign |
Het |
Dnaaf1 |
A |
G |
8: 120,317,405 (GRCm39) |
I311M |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 117,937,950 (GRCm39) |
N3372S |
probably benign |
Het |
Dus4l |
G |
A |
12: 31,691,656 (GRCm39) |
T184I |
possibly damaging |
Het |
Dzip3 |
T |
C |
16: 48,768,076 (GRCm39) |
K453E |
possibly damaging |
Het |
Fhod3 |
C |
T |
18: 24,842,673 (GRCm39) |
T3M |
probably damaging |
Het |
Galnt10 |
T |
C |
11: 57,672,048 (GRCm39) |
L446P |
probably damaging |
Het |
Gfod1 |
T |
A |
13: 43,354,012 (GRCm39) |
D321V |
possibly damaging |
Het |
Glt8d2 |
C |
A |
10: 82,497,987 (GRCm39) |
|
probably benign |
Het |
Gm11115 |
A |
G |
5: 88,301,948 (GRCm39) |
M4T |
unknown |
Het |
Gm11568 |
G |
A |
11: 99,749,209 (GRCm39) |
C138Y |
unknown |
Het |
Gm57859 |
C |
T |
11: 113,580,021 (GRCm39) |
T472I |
possibly damaging |
Het |
Gm9742 |
A |
G |
13: 8,085,052 (GRCm39) |
|
noncoding transcript |
Het |
Gnrhr |
G |
T |
5: 86,345,434 (GRCm39) |
T84N |
probably damaging |
Het |
Gpr176 |
C |
A |
2: 118,110,204 (GRCm39) |
G352W |
probably damaging |
Het |
Habp2 |
T |
C |
19: 56,304,864 (GRCm39) |
|
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Inpp5j |
C |
G |
11: 3,449,738 (GRCm39) |
W681C |
probably damaging |
Het |
Insl6 |
A |
G |
19: 29,298,968 (GRCm39) |
M148T |
probably benign |
Het |
Itgb1 |
T |
G |
8: 129,452,648 (GRCm39) |
M771R |
possibly damaging |
Het |
Kank1 |
G |
T |
19: 25,403,357 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
T |
C |
3: 105,366,942 (GRCm39) |
Y271H |
probably damaging |
Het |
Kcnq4 |
C |
A |
4: 120,573,798 (GRCm39) |
R221L |
probably damaging |
Het |
Klk1b26 |
G |
A |
7: 43,665,772 (GRCm39) |
V195I |
probably benign |
Het |
Lactb |
A |
C |
9: 66,878,145 (GRCm39) |
V228G |
possibly damaging |
Het |
Ldb3 |
T |
C |
14: 34,258,541 (GRCm39) |
D649G |
probably damaging |
Het |
Lilra6 |
T |
A |
7: 3,916,138 (GRCm39) |
R240S |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,338,145 (GRCm39) |
Y1212H |
probably damaging |
Het |
Mapk8ip1 |
A |
T |
2: 92,216,321 (GRCm39) |
|
probably null |
Het |
Mctp1 |
C |
T |
13: 76,975,846 (GRCm39) |
L483F |
probably damaging |
Het |
Mmp16 |
T |
C |
4: 18,115,878 (GRCm39) |
|
probably benign |
Het |
Mphosph9 |
A |
T |
5: 124,445,033 (GRCm39) |
L360* |
probably null |
Het |
Myh4 |
A |
G |
11: 67,143,123 (GRCm39) |
E1017G |
probably damaging |
Het |
Nell1 |
A |
T |
7: 49,879,928 (GRCm39) |
M307L |
probably benign |
Het |
Or10al3 |
C |
T |
17: 38,012,188 (GRCm39) |
A209V |
probably benign |
Het |
Or10d1 |
A |
C |
9: 39,484,139 (GRCm39) |
C139G |
probably damaging |
Het |
Or5m11 |
A |
G |
2: 85,781,587 (GRCm39) |
Y60C |
probably damaging |
Het |
Or8k35 |
A |
G |
2: 86,424,752 (GRCm39) |
V140A |
probably benign |
Het |
Phc2 |
A |
G |
4: 128,617,100 (GRCm39) |
|
probably benign |
Het |
Pp2d1 |
C |
A |
17: 53,814,999 (GRCm39) |
C575F |
probably benign |
Het |
Ptpra |
T |
A |
2: 130,381,605 (GRCm39) |
N364K |
probably damaging |
Het |
R3hcc1l |
A |
G |
19: 42,550,995 (GRCm39) |
|
probably benign |
Het |
Rims1 |
A |
G |
1: 22,507,263 (GRCm39) |
|
probably benign |
Het |
Shank3 |
G |
A |
15: 89,427,442 (GRCm39) |
|
probably benign |
Het |
Sit1 |
T |
A |
4: 43,482,991 (GRCm39) |
Q86L |
possibly damaging |
Het |
Skint4 |
C |
A |
4: 111,975,136 (GRCm39) |
|
probably benign |
Het |
Skint8 |
G |
T |
4: 111,796,020 (GRCm39) |
|
probably benign |
Het |
Smim13 |
T |
C |
13: 41,426,186 (GRCm39) |
I74T |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Speg |
A |
G |
1: 75,361,676 (GRCm39) |
E230G |
possibly damaging |
Het |
Spmap2l |
A |
G |
5: 77,185,204 (GRCm39) |
|
probably benign |
Het |
Srpra |
A |
G |
9: 35,127,291 (GRCm39) |
T614A |
possibly damaging |
Het |
Synpo2 |
T |
C |
3: 122,907,981 (GRCm39) |
D445G |
probably damaging |
Het |
Tas2r102 |
A |
T |
6: 132,739,328 (GRCm39) |
I79F |
probably damaging |
Het |
Tmc4 |
A |
G |
7: 3,670,609 (GRCm39) |
L494P |
probably damaging |
Het |
Togaram1 |
G |
T |
12: 65,053,805 (GRCm39) |
V1412F |
probably damaging |
Het |
Topors |
T |
C |
4: 40,261,952 (GRCm39) |
D444G |
probably damaging |
Het |
Trappc8 |
T |
A |
18: 20,978,658 (GRCm39) |
I813F |
possibly damaging |
Het |
Trim26 |
T |
C |
17: 37,163,598 (GRCm39) |
|
probably benign |
Het |
Unc13a |
T |
C |
8: 72,097,557 (GRCm39) |
D1171G |
probably damaging |
Het |
Usp7 |
A |
G |
16: 8,517,126 (GRCm39) |
V245A |
probably damaging |
Het |
Vmn1r38 |
T |
A |
6: 66,753,979 (GRCm39) |
T46S |
probably benign |
Het |
Vmn2r76 |
T |
C |
7: 85,874,959 (GRCm39) |
T673A |
probably damaging |
Het |
Zcchc14 |
T |
A |
8: 122,355,388 (GRCm39) |
|
probably benign |
Het |
Zfp451 |
T |
A |
1: 33,809,991 (GRCm39) |
|
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 |
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'- CATCTATGAGATTGGAACTGAAGCCTCTG -3'
(R):5'- CGCTGCATCCCGTGCTAACT -3'
Sequencing Primer
(F):5'- GGAACTGAAGCCTCTGATTTTTC -3'
(R):5'- CTGTTTAAGAGCAGCTCAGC -3'
|
Posted On |
2013-05-23 |