Incidental Mutation 'R7697:Cntn3'
ID |
593707 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7697 (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 T
at 102185127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 663
(V663E)
|
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: V663E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: V663E
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: V663E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: V663E
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd4 |
T |
C |
14: 54,500,216 (GRCm39) |
V87A |
probably damaging |
Het |
Acadsb |
A |
G |
7: 131,031,698 (GRCm39) |
E178G |
probably damaging |
Het |
Acoxl |
A |
G |
2: 127,820,702 (GRCm39) |
T365A |
probably benign |
Het |
Adcy8 |
T |
G |
15: 64,618,850 (GRCm39) |
I768L |
probably benign |
Het |
Bloc1s4 |
A |
G |
5: 36,905,959 (GRCm39) |
S11P |
probably benign |
Het |
Brinp2 |
T |
C |
1: 158,095,496 (GRCm39) |
I122V |
probably benign |
Het |
Brwd1 |
T |
C |
16: 95,847,601 (GRCm39) |
D673G |
probably benign |
Het |
Cbx8 |
C |
A |
11: 118,931,637 (GRCm39) |
E14* |
probably null |
Het |
Cep295 |
T |
A |
9: 15,266,006 (GRCm39) |
M49L |
probably benign |
Het |
Cfap157 |
T |
C |
2: 32,669,765 (GRCm39) |
N273D |
probably benign |
Het |
Cspg5 |
G |
C |
9: 110,085,294 (GRCm39) |
R488S |
probably damaging |
Het |
Csrnp2 |
A |
T |
15: 100,385,953 (GRCm39) |
M95K |
probably damaging |
Het |
Dnah3 |
A |
T |
7: 119,566,657 (GRCm39) |
V136E |
|
Het |
Drg2 |
T |
A |
11: 60,353,003 (GRCm39) |
I212N |
probably damaging |
Het |
Egfem1 |
T |
C |
3: 29,744,346 (GRCm39) |
|
probably null |
Het |
Eif1ad18 |
T |
C |
12: 88,050,749 (GRCm39) |
Y95H |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,102,750 (GRCm39) |
D402V |
probably damaging |
Het |
Fanci |
T |
A |
7: 79,056,040 (GRCm39) |
|
probably null |
Het |
Fgd6 |
T |
A |
10: 93,881,306 (GRCm39) |
V720D |
probably damaging |
Het |
Fhod1 |
T |
A |
8: 106,074,563 (GRCm39) |
|
probably benign |
Het |
Flnc |
T |
A |
6: 29,456,516 (GRCm39) |
I2238N |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,488,892 (GRCm39) |
E79G |
probably damaging |
Het |
Gabrr2 |
A |
T |
4: 33,071,358 (GRCm39) |
Y66F |
probably benign |
Het |
Ggnbp1 |
T |
G |
17: 27,249,736 (GRCm39) |
I192S |
probably benign |
Het |
Gm32742 |
C |
T |
9: 51,058,901 (GRCm39) |
V1039I |
probably benign |
Het |
H2-D1 |
T |
C |
17: 35,482,121 (GRCm39) |
L11P |
probably damaging |
Het |
Hsd17b4 |
A |
G |
18: 50,263,208 (GRCm39) |
Y25C |
probably damaging |
Het |
Ildr2 |
C |
A |
1: 166,122,300 (GRCm39) |
Q248K |
probably benign |
Het |
Klrb1c |
T |
C |
6: 128,757,273 (GRCm39) |
H264R |
probably benign |
Het |
Lrp11 |
C |
T |
10: 7,479,983 (GRCm39) |
A346V |
probably benign |
Het |
Mast4 |
G |
A |
13: 102,875,711 (GRCm39) |
P1319L |
probably damaging |
Het |
Mcm9 |
A |
C |
10: 53,491,990 (GRCm39) |
F392V |
|
Het |
Med12l |
C |
T |
3: 59,148,078 (GRCm39) |
A965V |
probably damaging |
Het |
Mrps7 |
A |
G |
11: 115,495,701 (GRCm39) |
T80A |
probably benign |
Het |
Mtor |
T |
A |
4: 148,624,765 (GRCm39) |
Y2125* |
probably null |
Het |
Myoc |
A |
G |
1: 162,475,049 (GRCm39) |
E200G |
probably damaging |
Het |
Natd1 |
A |
G |
11: 60,797,808 (GRCm39) |
V39A |
probably damaging |
Het |
Notch4 |
C |
T |
17: 34,789,159 (GRCm39) |
T486I |
probably damaging |
Het |
Or10am5 |
T |
C |
7: 6,517,645 (GRCm39) |
Y261C |
probably damaging |
Het |
Or10n1 |
A |
G |
9: 39,525,157 (GRCm39) |
Q98R |
probably damaging |
Het |
Or2c1 |
G |
A |
16: 3,657,430 (GRCm39) |
V198M |
probably damaging |
Het |
Or5aq6 |
T |
A |
2: 86,923,162 (GRCm39) |
H193L |
probably benign |
Het |
Pdss2 |
T |
A |
10: 43,221,544 (GRCm39) |
I152N |
probably damaging |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Plec |
T |
C |
15: 76,065,885 (GRCm39) |
E1395G |
unknown |
Het |
Polr2b |
T |
C |
5: 77,468,059 (GRCm39) |
Y120H |
probably damaging |
Het |
Pyroxd2 |
C |
T |
19: 42,735,805 (GRCm39) |
C99Y |
probably benign |
Het |
Rela |
T |
C |
19: 5,691,630 (GRCm39) |
V268A |
probably damaging |
Het |
Rgs3 |
C |
T |
4: 62,575,379 (GRCm39) |
P589S |
probably benign |
Het |
Rtn1 |
A |
G |
12: 72,455,151 (GRCm39) |
S59P |
probably benign |
Het |
Siae |
A |
G |
9: 37,544,950 (GRCm39) |
Y315C |
probably damaging |
Het |
Susd3 |
C |
A |
13: 49,391,074 (GRCm39) |
W147L |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,702,047 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
G |
2: 69,728,030 (GRCm39) |
Y131C |
probably damaging |
Het |
Unc80 |
C |
T |
1: 66,677,104 (GRCm39) |
P2011L |
possibly damaging |
Het |
Usp9y |
T |
C |
Y: 1,316,990 (GRCm39) |
E1853G |
possibly damaging |
Het |
Wls |
C |
A |
3: 159,616,955 (GRCm39) |
H331Q |
probably benign |
Het |
Xkr6 |
C |
A |
14: 63,844,628 (GRCm39) |
P217Q |
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 |
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'- AGATCAGTGGCTTGGAGACC -3'
(R):5'- TCGTATGCAGTCCAAGCTAG -3'
Sequencing Primer
(F):5'- TGGCTTGGAGACCAGAGC -3'
(R):5'- AAGCTAGGACGCCTTTCTCTGTG -3'
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Posted On |
2019-11-12 |