Incidental Mutation 'R6993:Cntn3'
ID |
543964 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
MMRRC Submission |
045099-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6993 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102255365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 178
(T178A)
|
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: T178A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: T178A
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: T178A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: T178A
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (66/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
T |
C |
8: 79,975,053 (GRCm39) |
E10G |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,115,866 (GRCm39) |
I3429V |
possibly damaging |
Het |
Braf |
T |
A |
6: 39,620,097 (GRCm39) |
I441F |
probably damaging |
Het |
C5ar1 |
A |
T |
7: 15,982,837 (GRCm39) |
V61E |
probably damaging |
Het |
Camk2a |
C |
A |
18: 61,076,247 (GRCm39) |
|
probably benign |
Het |
Cd163 |
A |
G |
6: 124,294,673 (GRCm39) |
Y579C |
probably damaging |
Het |
Celf1 |
T |
C |
2: 90,840,821 (GRCm39) |
Y363H |
probably damaging |
Het |
Cryab |
C |
T |
9: 50,664,748 (GRCm39) |
P58S |
probably benign |
Het |
Ctsf |
G |
T |
19: 4,908,511 (GRCm39) |
R290L |
probably benign |
Het |
Ctsw |
T |
A |
19: 5,515,865 (GRCm39) |
I258F |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,234,299 (GRCm39) |
|
probably null |
Het |
Drg1 |
TCATCTTCCA |
TCA |
11: 3,200,294 (GRCm39) |
|
probably null |
Het |
Etfb |
A |
G |
7: 43,105,978 (GRCm39) |
T172A |
possibly damaging |
Het |
Etfdh |
A |
G |
3: 79,519,338 (GRCm39) |
Y272H |
probably benign |
Het |
Ewsr1 |
C |
T |
11: 5,021,573 (GRCm39) |
R454Q |
probably benign |
Het |
F2rl2 |
T |
A |
13: 95,837,642 (GRCm39) |
I229N |
probably damaging |
Het |
Fam162a |
A |
T |
16: 35,870,215 (GRCm39) |
I88N |
probably damaging |
Het |
Fastkd5 |
A |
G |
2: 130,458,459 (GRCm39) |
S44P |
probably benign |
Het |
Fat3 |
T |
G |
9: 15,830,517 (GRCm39) |
S4326R |
probably damaging |
Het |
Fbf1 |
T |
C |
11: 116,043,610 (GRCm39) |
K400E |
probably benign |
Het |
Fndc7 |
A |
G |
3: 108,783,907 (GRCm39) |
V234A |
probably benign |
Het |
Gfi1 |
T |
A |
5: 107,865,634 (GRCm39) |
H481L |
probably damaging |
Het |
Gm5591 |
T |
A |
7: 38,218,647 (GRCm39) |
H742L |
probably benign |
Het |
Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
H2-DMb1 |
A |
C |
17: 34,376,324 (GRCm39) |
T148P |
possibly damaging |
Het |
H2-T3 |
A |
G |
17: 36,497,962 (GRCm39) |
L317P |
probably damaging |
Het |
Hes3 |
T |
C |
4: 152,371,380 (GRCm39) |
T190A |
probably benign |
Het |
Hivep1 |
C |
T |
13: 42,312,190 (GRCm39) |
L1477F |
possibly damaging |
Het |
Insr |
C |
T |
8: 3,308,752 (GRCm39) |
G95S |
probably damaging |
Het |
Irf9 |
A |
G |
14: 55,846,414 (GRCm39) |
I394V |
probably benign |
Het |
Kat2b |
T |
C |
17: 53,945,550 (GRCm39) |
L323P |
probably damaging |
Het |
Kdr |
T |
C |
5: 76,133,071 (GRCm39) |
D69G |
probably benign |
Het |
Krt1c |
C |
T |
15: 101,724,395 (GRCm39) |
E290K |
probably damaging |
Het |
Krtap4-6 |
G |
T |
11: 99,556,545 (GRCm39) |
R61S |
unknown |
Het |
Ldc1 |
A |
G |
4: 130,112,106 (GRCm39) |
L192P |
probably damaging |
Het |
Lrrc27 |
A |
T |
7: 138,822,540 (GRCm39) |
K477M |
probably damaging |
Het |
Lvrn |
T |
C |
18: 47,015,365 (GRCm39) |
V579A |
probably benign |
Het |
Malrd1 |
A |
T |
2: 16,155,602 (GRCm39) |
I2004L |
unknown |
Het |
Mast4 |
A |
T |
13: 102,872,482 (GRCm39) |
N2103K |
probably benign |
Het |
Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
Myo18a |
T |
A |
11: 77,749,900 (GRCm39) |
|
probably benign |
Het |
Or10d5 |
T |
A |
9: 39,861,933 (GRCm39) |
M45L |
probably benign |
Het |
Or52ab2 |
G |
T |
7: 102,969,998 (GRCm39) |
|
probably benign |
Het |
Pcdhga10 |
A |
G |
18: 37,882,309 (GRCm39) |
Y690C |
probably damaging |
Het |
Pdcd2 |
A |
G |
17: 15,747,343 (GRCm39) |
Y65H |
probably damaging |
Het |
Ppp1r12a |
A |
G |
10: 108,076,698 (GRCm39) |
E309G |
probably benign |
Het |
Psmb8 |
A |
G |
17: 34,418,617 (GRCm39) |
D123G |
probably damaging |
Het |
Ptcd3 |
A |
T |
6: 71,862,299 (GRCm39) |
W513R |
probably damaging |
Het |
Ptx4 |
G |
A |
17: 25,343,898 (GRCm39) |
V383I |
possibly damaging |
Het |
Ric1 |
T |
C |
19: 29,564,013 (GRCm39) |
L589S |
probably damaging |
Het |
Rmnd5b |
A |
G |
11: 51,515,427 (GRCm39) |
|
probably benign |
Het |
Sec16a |
A |
T |
2: 26,313,586 (GRCm39) |
S1925T |
probably damaging |
Het |
Slc16a11 |
T |
A |
11: 70,106,842 (GRCm39) |
M360K |
possibly damaging |
Het |
Slc19a2 |
T |
A |
1: 164,088,391 (GRCm39) |
F79I |
probably benign |
Het |
Slc2a6 |
G |
T |
2: 26,917,255 (GRCm39) |
S45R |
probably damaging |
Het |
Slco1a7 |
G |
A |
6: 141,711,468 (GRCm39) |
T81I |
possibly damaging |
Het |
Sppl3 |
T |
A |
5: 115,220,349 (GRCm39) |
M87K |
probably damaging |
Het |
Tbcel |
A |
T |
9: 42,327,413 (GRCm39) |
L330* |
probably null |
Het |
Tbx5 |
A |
T |
5: 120,009,454 (GRCm39) |
Y321F |
possibly damaging |
Het |
Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
Unc45a |
A |
T |
7: 79,975,403 (GRCm39) |
Y934N |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,588,952 (GRCm39) |
Q1039L |
possibly damaging |
Het |
Vmn2r112 |
T |
C |
17: 22,822,195 (GRCm39) |
L291P |
probably benign |
Het |
Wwc2 |
A |
T |
8: 48,300,500 (GRCm39) |
F988I |
unknown |
Het |
Zfp947 |
G |
A |
17: 22,364,961 (GRCm39) |
P238S |
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 |
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'- AGGTAATGCCACAGGACTTTTC -3'
(R):5'- GTTCTTCTGAATGGCTGGCAAG -3'
Sequencing Primer
(F):5'- GGTAATGCCACAGGACTTTTCTTTAC -3'
(R):5'- TCTTCTGAATGGCTGGCAAGAAAAAG -3'
|
Posted On |
2019-05-13 |