Incidental Mutation 'R9055:Cntn3'
ID |
688623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
MMRRC Submission |
068881-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9055 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102244398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 384
(F384L)
|
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: F384L
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: F384L
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: F384L
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: F384L
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: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
97% (68/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
T |
A |
19: 57,030,398 (GRCm39) |
T753S |
probably benign |
Het |
Acy3 |
A |
G |
19: 4,038,178 (GRCm39) |
E157G |
probably benign |
Het |
Adamts20 |
A |
G |
15: 94,181,867 (GRCm39) |
Y1609H |
probably damaging |
Het |
Ahnak2 |
C |
T |
12: 112,741,019 (GRCm39) |
A1018T |
possibly damaging |
Het |
Ahsg |
T |
A |
16: 22,711,069 (GRCm39) |
W69R |
possibly damaging |
Het |
Alox12 |
T |
G |
11: 70,143,903 (GRCm39) |
D159A |
probably damaging |
Het |
Alox12b |
C |
G |
11: 69,054,884 (GRCm39) |
P296A |
possibly damaging |
Het |
Ankrd17 |
T |
C |
5: 90,380,168 (GRCm39) |
I2507V |
probably benign |
Het |
Apeh |
T |
C |
9: 107,963,045 (GRCm39) |
M670V |
possibly damaging |
Het |
Aqp12 |
C |
T |
1: 92,934,627 (GRCm39) |
A168V |
probably benign |
Het |
Ceacam1 |
A |
T |
7: 25,171,299 (GRCm39) |
D388E |
probably damaging |
Het |
Clp1 |
A |
T |
2: 84,554,266 (GRCm39) |
I301N |
probably damaging |
Het |
Dnpep |
A |
T |
1: 75,291,805 (GRCm39) |
M238K |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 6,996,641 (GRCm39) |
|
probably benign |
Het |
Edc3 |
T |
A |
9: 57,623,360 (GRCm39) |
N98K |
probably benign |
Het |
Egr3 |
T |
A |
14: 70,316,349 (GRCm39) |
N15K |
probably damaging |
Het |
Fbxo25 |
T |
A |
8: 13,965,023 (GRCm39) |
C25S |
possibly damaging |
Het |
Fgd4 |
T |
A |
16: 16,240,494 (GRCm39) |
D745V |
possibly damaging |
Het |
Flnb |
T |
A |
14: 7,908,553 (GRCm38) |
D1310E |
probably benign |
Het |
Ggnbp2 |
A |
G |
11: 84,732,448 (GRCm39) |
F215S |
probably damaging |
Het |
Gm1979 |
C |
T |
5: 26,207,032 (GRCm39) |
R107Q |
probably benign |
Het |
Gm4847 |
T |
A |
1: 166,467,677 (GRCm39) |
H173L |
probably damaging |
Het |
Gmeb1 |
A |
T |
4: 131,964,425 (GRCm39) |
L146H |
probably damaging |
Het |
Gpr88 |
A |
G |
3: 116,046,300 (GRCm39) |
S4P |
unknown |
Het |
Gucy1a1 |
A |
G |
3: 82,016,433 (GRCm39) |
L185P |
possibly damaging |
Het |
Hsd3b6 |
G |
T |
3: 98,713,984 (GRCm39) |
T105N |
probably damaging |
Het |
Iqca1 |
T |
C |
1: 89,998,335 (GRCm39) |
Y546C |
probably benign |
Het |
Irf1 |
T |
A |
11: 53,667,196 (GRCm39) |
I305N |
probably benign |
Het |
Itgb3 |
G |
A |
11: 104,556,451 (GRCm39) |
W764* |
probably null |
Het |
Klra8 |
G |
T |
6: 130,096,017 (GRCm39) |
R192S |
probably benign |
Het |
Krt79 |
T |
A |
15: 101,839,922 (GRCm39) |
I358F |
probably damaging |
Het |
Mettl4 |
T |
C |
17: 95,047,843 (GRCm39) |
D266G |
possibly damaging |
Het |
Mfsd8 |
G |
A |
3: 40,786,493 (GRCm39) |
A219V |
probably benign |
Het |
Mgam |
G |
A |
6: 40,691,663 (GRCm39) |
|
probably benign |
Het |
Nek9 |
A |
T |
12: 85,348,616 (GRCm39) |
C973S |
probably damaging |
Het |
Or2k2 |
G |
T |
4: 58,785,374 (GRCm39) |
A116E |
possibly damaging |
Het |
Or4f15 |
A |
T |
2: 111,814,049 (GRCm39) |
Y123* |
probably null |
Het |
Or8c13 |
T |
C |
9: 38,091,780 (GRCm39) |
Y113C |
probably damaging |
Het |
Ostc |
T |
A |
3: 130,503,020 (GRCm39) |
E2V |
probably damaging |
Het |
Ostc |
C |
A |
3: 130,503,021 (GRCm39) |
E2* |
probably null |
Het |
Pcdhb8 |
T |
A |
18: 37,490,585 (GRCm39) |
C754* |
probably null |
Het |
Polr1a |
A |
G |
6: 71,892,053 (GRCm39) |
T111A |
possibly damaging |
Het |
Prep |
C |
T |
10: 44,991,291 (GRCm39) |
T319M |
probably benign |
Het |
Reg3b |
A |
C |
6: 78,349,886 (GRCm39) |
D142A |
possibly damaging |
Het |
Retsat |
A |
G |
6: 72,583,936 (GRCm39) |
D537G |
probably benign |
Het |
Rnf2 |
G |
A |
1: 151,352,030 (GRCm39) |
L109F |
probably damaging |
Het |
Rskr |
A |
G |
11: 78,184,373 (GRCm39) |
D240G |
probably damaging |
Het |
Runx3 |
G |
T |
4: 134,902,656 (GRCm39) |
R262L |
probably damaging |
Het |
Rwdd3 |
G |
T |
3: 120,952,871 (GRCm39) |
T112K |
probably benign |
Het |
Scfd2 |
T |
C |
5: 74,691,931 (GRCm39) |
H117R |
possibly damaging |
Het |
Scn10a |
C |
T |
9: 119,451,958 (GRCm39) |
V1321M |
probably damaging |
Het |
Sec31a |
T |
C |
5: 100,534,040 (GRCm39) |
E119G |
possibly damaging |
Het |
Skint6 |
C |
A |
4: 113,095,347 (GRCm39) |
G104V |
probably damaging |
Het |
Slc18a1 |
T |
A |
8: 69,520,823 (GRCm39) |
I199F |
possibly damaging |
Het |
St18 |
C |
T |
1: 6,873,206 (GRCm39) |
R314* |
probably null |
Het |
Sucla2 |
T |
G |
14: 73,819,068 (GRCm39) |
|
probably benign |
Het |
Sulf1 |
A |
T |
1: 12,878,187 (GRCm39) |
H225L |
probably damaging |
Het |
Tas2r140 |
A |
G |
6: 133,032,380 (GRCm39) |
V126A |
possibly damaging |
Het |
Tcp10b |
T |
C |
17: 13,281,828 (GRCm39) |
I66T |
probably damaging |
Het |
Tmem45a2 |
T |
C |
16: 56,861,115 (GRCm39) |
I237M |
probably benign |
Het |
Traf3ip1 |
C |
T |
1: 91,428,733 (GRCm39) |
R167* |
probably null |
Het |
Trav17 |
T |
G |
14: 54,044,320 (GRCm39) |
V30G |
probably damaging |
Het |
Vmn1r54 |
A |
G |
6: 90,246,100 (GRCm39) |
N5D |
probably benign |
Het |
Vmn2r81 |
A |
G |
10: 79,110,441 (GRCm39) |
H518R |
probably benign |
Het |
Washc3 |
A |
G |
10: 88,051,916 (GRCm39) |
T102A |
probably benign |
Het |
Xaf1 |
A |
G |
11: 72,194,266 (GRCm39) |
H49R |
probably damaging |
Het |
Zfp1001 |
G |
A |
2: 150,165,753 (GRCm39) |
|
probably benign |
Het |
Zfp276 |
T |
C |
8: 123,985,109 (GRCm39) |
F356L |
probably damaging |
Het |
Zfp398 |
G |
T |
6: 47,843,319 (GRCm39) |
R457L |
possibly damaging |
Het |
Zfp512 |
G |
T |
5: 31,637,533 (GRCm39) |
E541* |
probably null |
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 |
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 |
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'- GGTCACCATGGCTGTTTTCC -3'
(R):5'- ATTTCAGGTCAGACTACCGATTAG -3'
Sequencing Primer
(F):5'- GGCATGCCTATATAACTTAGCCTG -3'
(R):5'- TACCGATTAGTCAGATAAAAACAGC -3'
|
Posted On |
2021-11-19 |