Incidental Mutation 'R7174:Cntn3'
ID |
558486 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
MMRRC Submission |
045266-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7174 (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 102142305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1021
(F1021L)
|
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: F1021L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: F1021L
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: F1021L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: F1021L
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: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
97% (61/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
C |
A |
5: 144,981,627 (GRCm39) |
A154E |
probably benign |
Het |
Adamts1 |
C |
A |
16: 85,596,060 (GRCm39) |
A419S |
probably benign |
Het |
Arap2 |
C |
G |
5: 62,761,621 (GRCm39) |
V1702L |
probably benign |
Het |
Arpc1a |
C |
T |
5: 145,034,087 (GRCm39) |
P152S |
probably benign |
Het |
Bbs10 |
T |
A |
10: 111,136,628 (GRCm39) |
C580* |
probably null |
Het |
Bcam |
A |
G |
7: 19,499,376 (GRCm39) |
Y216H |
probably damaging |
Het |
C2cd3 |
T |
C |
7: 100,081,405 (GRCm39) |
S1016P |
|
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Ceacam5 |
T |
A |
7: 17,491,839 (GRCm39) |
|
probably null |
Het |
Cfap57 |
A |
G |
4: 118,446,264 (GRCm39) |
V666A |
probably benign |
Het |
Cr1l |
C |
T |
1: 194,811,497 (GRCm39) |
G119D |
probably benign |
Het |
Fgf10 |
A |
T |
13: 118,851,942 (GRCm39) |
H8L |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,903,436 (GRCm39) |
|
probably null |
Het |
Frem1 |
G |
T |
4: 82,840,493 (GRCm39) |
T1811N |
probably benign |
Het |
Fsd1 |
A |
T |
17: 56,298,356 (GRCm39) |
Q227L |
probably benign |
Het |
Galk2 |
A |
G |
2: 125,738,621 (GRCm39) |
I138M |
probably damaging |
Het |
Igkv8-30 |
A |
G |
6: 70,094,582 (GRCm39) |
V7A |
possibly damaging |
Het |
Katnb1 |
G |
A |
8: 95,824,069 (GRCm39) |
A450T |
probably benign |
Het |
Kif14 |
A |
T |
1: 136,448,995 (GRCm39) |
E1465V |
possibly damaging |
Het |
Klra3 |
A |
T |
6: 130,312,941 (GRCm39) |
|
probably null |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lepr |
A |
G |
4: 101,607,535 (GRCm39) |
N251S |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,263,416 (GRCm39) |
M4379V |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 103,060,826 (GRCm39) |
N92S |
probably benign |
Het |
Map3k13 |
A |
G |
16: 21,745,006 (GRCm39) |
N855S |
probably damaging |
Het |
Marf1 |
T |
A |
16: 13,954,817 (GRCm39) |
D900V |
probably damaging |
Het |
Nckap5l |
A |
T |
15: 99,321,884 (GRCm39) |
M1087K |
probably benign |
Het |
Nlrp9c |
T |
C |
7: 26,084,722 (GRCm39) |
N286D |
probably benign |
Het |
Or12j4 |
T |
C |
7: 140,047,076 (GRCm39) |
*321Q |
probably null |
Het |
Or13c7d |
C |
T |
4: 43,770,691 (GRCm39) |
A107T |
not run |
Het |
Or4k2 |
T |
C |
14: 50,424,153 (GRCm39) |
I175V |
probably benign |
Het |
Or51ah3 |
A |
T |
7: 103,210,598 (GRCm39) |
R305* |
probably null |
Het |
Or5g9 |
C |
T |
2: 85,552,297 (GRCm39) |
P183S |
possibly damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,367 (GRCm39) |
S196R |
probably benign |
Het |
Pcdhga3 |
A |
G |
18: 37,808,980 (GRCm39) |
T478A |
probably benign |
Het |
Pdgfrb |
T |
C |
18: 61,199,587 (GRCm39) |
I385T |
probably benign |
Het |
Poteg |
C |
T |
8: 27,943,305 (GRCm39) |
R192W |
probably benign |
Het |
Prmt2 |
G |
T |
10: 76,061,173 (GRCm39) |
D104E |
probably benign |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Rlbp1 |
T |
C |
7: 79,027,090 (GRCm39) |
N190S |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,816,063 (GRCm39) |
D641G |
possibly damaging |
Het |
Sh3gl1 |
A |
T |
17: 56,324,846 (GRCm39) |
M303K |
probably benign |
Het |
Slc26a5 |
A |
G |
5: 22,018,892 (GRCm39) |
V649A |
probably damaging |
Het |
Slco4c1 |
T |
C |
1: 96,765,323 (GRCm39) |
N376D |
possibly damaging |
Het |
Socs3 |
A |
T |
11: 117,858,553 (GRCm39) |
Y168* |
probably null |
Het |
Spata31d1d |
A |
T |
13: 59,876,394 (GRCm39) |
N380K |
possibly damaging |
Het |
Speer1c |
T |
C |
5: 10,295,237 (GRCm39) |
K56E |
probably damaging |
Het |
Ssbp3 |
A |
G |
4: 106,894,843 (GRCm39) |
N254S |
probably benign |
Het |
Stard10 |
C |
T |
7: 100,995,226 (GRCm39) |
S326L |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,912,135 (GRCm39) |
D524G |
possibly damaging |
Het |
Taf7 |
A |
T |
18: 37,776,053 (GRCm39) |
S171R |
probably damaging |
Het |
Tchh |
C |
T |
3: 93,353,478 (GRCm39) |
R973C |
unknown |
Het |
Tmem67 |
T |
C |
4: 12,077,337 (GRCm39) |
R172G |
possibly damaging |
Het |
Top2a |
C |
A |
11: 98,914,922 (GRCm39) |
|
probably benign |
Het |
Ttc8 |
T |
A |
12: 98,940,960 (GRCm39) |
N323K |
possibly damaging |
Het |
Txnl1 |
T |
C |
18: 63,804,667 (GRCm39) |
N276D |
probably benign |
Het |
Usp24 |
T |
G |
4: 106,219,878 (GRCm39) |
|
probably null |
Het |
Vmn1r18 |
A |
C |
6: 57,366,609 (GRCm39) |
|
probably null |
Het |
Vmn2r53 |
A |
T |
7: 12,315,628 (GRCm39) |
H730Q |
probably benign |
Het |
Wnk1 |
A |
C |
6: 119,947,939 (GRCm39) |
I500M |
probably damaging |
Het |
Zfp335 |
A |
T |
2: 164,744,423 (GRCm39) |
Y451N |
probably damaging |
Het |
Zfp683 |
T |
A |
4: 133,783,064 (GRCm39) |
I176N |
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 |
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'- AGGCATCTCAGATTCCTCTAAAAG -3'
(R):5'- GTCCAGAGCCTTAAAGACCTTCAAG -3'
Sequencing Primer
(F):5'- CACTGTTTCAGAAAGCACT -3'
(R):5'- AAGACCTTCAAGGCTGTTGC -3'
|
Posted On |
2019-06-26 |