Incidental Mutation 'R8377:Cntn3'
ID |
646739 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
MMRRC Submission |
067745-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8377 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102186254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 578
(M578V)
|
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: M578V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: M578V
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: M578V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: M578V
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 |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot3 |
C |
A |
12: 84,105,561 (GRCm39) |
C251* |
probably null |
Het |
Acsbg1 |
A |
G |
9: 54,529,789 (GRCm39) |
C273R |
probably damaging |
Het |
Adh6a |
A |
G |
3: 138,031,884 (GRCm39) |
T259A |
probably damaging |
Het |
Aknad1 |
A |
G |
3: 108,689,255 (GRCm39) |
H639R |
possibly damaging |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Ampd3 |
A |
G |
7: 110,399,937 (GRCm39) |
R342G |
probably damaging |
Het |
Arid5b |
G |
T |
10: 67,933,217 (GRCm39) |
A895E |
probably damaging |
Het |
BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
Bmp8a |
G |
T |
4: 123,236,482 (GRCm39) |
P7Q |
unknown |
Het |
Boll |
A |
C |
1: 55,362,837 (GRCm39) |
V187G |
possibly damaging |
Het |
Ccdc162 |
A |
T |
10: 41,457,306 (GRCm39) |
C1544S |
probably benign |
Het |
Cmss1 |
A |
C |
16: 57,127,757 (GRCm39) |
M182R |
possibly damaging |
Het |
Dmxl2 |
A |
T |
9: 54,286,032 (GRCm39) |
W2718R |
probably damaging |
Het |
Dsg1a |
T |
A |
18: 20,466,831 (GRCm39) |
I567N |
probably damaging |
Het |
Epc2 |
T |
A |
2: 49,412,527 (GRCm39) |
D168E |
probably damaging |
Het |
Ern2 |
G |
A |
7: 121,780,515 (GRCm39) |
Q162* |
probably null |
Het |
F11r |
G |
T |
1: 171,265,111 (GRCm39) |
|
probably benign |
Het |
Fcgrt |
T |
C |
7: 44,751,987 (GRCm39) |
Y59C |
probably damaging |
Het |
Fmn2 |
G |
T |
1: 174,436,011 (GRCm39) |
E661* |
probably null |
Het |
Gbp4 |
T |
A |
5: 105,266,328 (GRCm39) |
Q571L |
probably benign |
Het |
Gm29106 |
A |
T |
1: 118,126,593 (GRCm39) |
H95L |
probably damaging |
Het |
Gphn |
G |
A |
12: 78,711,280 (GRCm39) |
V621M |
probably damaging |
Het |
Grwd1 |
T |
C |
7: 45,480,036 (GRCm39) |
Y57C |
probably damaging |
Het |
Insyn2b |
C |
A |
11: 34,351,964 (GRCm39) |
A2D |
probably damaging |
Het |
Irs2 |
G |
A |
8: 11,054,848 (GRCm39) |
Q1195* |
probably null |
Het |
Itpr1 |
G |
C |
6: 108,487,699 (GRCm39) |
C2375S |
probably benign |
Het |
Kcnmb4 |
A |
T |
10: 116,282,290 (GRCm39) |
Y136N |
probably benign |
Het |
Matn2 |
C |
T |
15: 34,345,511 (GRCm39) |
P173S |
probably damaging |
Het |
Med17 |
A |
C |
9: 15,173,655 (GRCm39) |
D606E |
probably damaging |
Het |
Mpl |
A |
G |
4: 118,301,254 (GRCm39) |
V537A |
|
Het |
Mrpl1 |
C |
G |
5: 96,374,226 (GRCm39) |
A167G |
probably benign |
Het |
Mrpl21 |
T |
C |
19: 3,342,487 (GRCm39) |
F206S |
unknown |
Het |
Msh6 |
T |
A |
17: 88,292,598 (GRCm39) |
M451K |
probably damaging |
Het |
Myo10 |
T |
C |
15: 25,804,481 (GRCm39) |
I1592T |
possibly damaging |
Het |
Naip1 |
A |
T |
13: 100,562,374 (GRCm39) |
D930E |
possibly damaging |
Het |
Necap2 |
T |
C |
4: 140,795,534 (GRCm39) |
I242V |
probably benign |
Het |
Nfya |
A |
G |
17: 48,699,073 (GRCm39) |
V240A |
possibly damaging |
Het |
Olfml2b |
A |
G |
1: 170,496,353 (GRCm39) |
D328G |
probably damaging |
Het |
Or10ak13 |
A |
T |
4: 118,639,203 (GRCm39) |
M193K |
probably benign |
Het |
Or4k35 |
T |
A |
2: 111,099,983 (GRCm39) |
H243L |
probably damaging |
Het |
Or5b24 |
T |
G |
19: 12,912,399 (GRCm39) |
V99G |
probably benign |
Het |
Or5p53 |
T |
G |
7: 107,532,892 (GRCm39) |
L55R |
probably damaging |
Het |
Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,361,982 (GRCm39) |
V1018A |
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,596,842 (GRCm39) |
L761P |
probably damaging |
Het |
Ppp1r36 |
T |
C |
12: 76,485,215 (GRCm39) |
S313P |
possibly damaging |
Het |
Ptpru |
C |
A |
4: 131,535,646 (GRCm39) |
G444C |
probably damaging |
Het |
Rfxank |
A |
T |
8: 70,587,960 (GRCm39) |
V149D |
probably damaging |
Het |
Rimbp2 |
G |
A |
5: 128,857,395 (GRCm39) |
H819Y |
probably damaging |
Het |
Sgms1 |
T |
C |
19: 32,101,821 (GRCm39) |
Y395C |
probably damaging |
Het |
Siae |
G |
A |
9: 37,542,901 (GRCm39) |
|
probably null |
Het |
Slc46a2 |
T |
A |
4: 59,914,713 (GRCm39) |
D70V |
probably damaging |
Het |
Smpdl3a |
A |
C |
10: 57,677,032 (GRCm39) |
L43F |
possibly damaging |
Het |
Spcs1 |
T |
A |
14: 30,722,103 (GRCm39) |
D146V |
possibly damaging |
Het |
Srcin1 |
T |
C |
11: 97,442,804 (GRCm39) |
D8G |
probably damaging |
Het |
Stra6 |
G |
T |
9: 58,056,488 (GRCm39) |
L373F |
probably damaging |
Het |
Tacc1 |
A |
T |
8: 25,672,299 (GRCm39) |
S310T |
possibly damaging |
Het |
Tlr12 |
T |
C |
4: 128,509,566 (GRCm39) |
S895G |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,887,258 (GRCm39) |
V89A |
probably damaging |
Het |
Top1 |
C |
T |
2: 160,488,009 (GRCm39) |
|
probably benign |
Het |
Trappc13 |
T |
G |
13: 104,297,509 (GRCm39) |
I132L |
probably benign |
Het |
Trpt1 |
C |
T |
19: 6,976,349 (GRCm39) |
Q249* |
probably null |
Het |
Tsnaxip1 |
A |
C |
8: 106,569,179 (GRCm39) |
K510Q |
probably damaging |
Het |
Usp39 |
A |
T |
6: 72,305,657 (GRCm39) |
N375K |
probably benign |
Het |
Vldlr |
T |
A |
19: 27,212,258 (GRCm39) |
C91S |
probably damaging |
Het |
Vmn1r232 |
T |
A |
17: 21,134,239 (GRCm39) |
L120F |
probably benign |
Het |
Vmn2r71 |
T |
C |
7: 85,264,707 (GRCm39) |
V13A |
probably benign |
Het |
Wdr11 |
T |
A |
7: 129,208,412 (GRCm39) |
V389E |
possibly damaging |
Het |
Wsb2 |
A |
T |
5: 117,514,766 (GRCm39) |
I321F |
possibly damaging |
Het |
Zan |
A |
T |
5: 137,389,949 (GRCm39) |
V4841E |
unknown |
Het |
Zfy1 |
A |
T |
Y: 725,723 (GRCm39) |
F681I |
possibly damaging |
Het |
Zpld1 |
C |
A |
16: 55,067,017 (GRCm39) |
E179D |
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 |
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'- TTGTCATACCCTCTGGCTGATG -3'
(R):5'- ATGCATGCTCTTGAACTTGTC -3'
Sequencing Primer
(F):5'- ATACCCTCTGGCTGATGGATGTC -3'
(R):5'- GAACTTGTCTTAGTTTCCATGCAAC -3'
|
Posted On |
2020-09-02 |