Incidental Mutation 'R4609:Cntnap5b'
ID |
344487 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap5b
|
Ensembl Gene |
ENSMUSG00000067028 |
Gene Name |
contactin associated protein-like 5B |
Synonyms |
C230078M14Rik, Caspr5-2 |
MMRRC Submission |
041820-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R4609 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
99700490-100413667 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 99700572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086738]
|
AlphaFold |
Q0V8T8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000086738
|
SMART Domains |
Protein: ENSMUSP00000083944 Gene: ENSMUSG00000067028
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
FA58C
|
39 |
174 |
2.76e-16 |
SMART |
LamG
|
201 |
338 |
2.84e-27 |
SMART |
LamG
|
387 |
521 |
9.22e-27 |
SMART |
EGF
|
549 |
583 |
1.14e0 |
SMART |
Blast:FBG
|
586 |
758 |
3e-66 |
BLAST |
LamG
|
798 |
925 |
2.12e-26 |
SMART |
EGF
|
946 |
982 |
1.51e0 |
SMART |
LamG
|
1023 |
1159 |
2.14e-13 |
SMART |
transmembrane domain
|
1227 |
1249 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9489 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
99% (78/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
7530416G11Rik |
T |
C |
15: 85,378,370 (GRCm39) |
D91G |
unknown |
Het |
Adam10 |
T |
C |
9: 70,647,425 (GRCm39) |
Y42H |
probably damaging |
Het |
Baiap3 |
A |
T |
17: 25,469,235 (GRCm39) |
C183S |
probably damaging |
Het |
Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
Bmp1 |
C |
T |
14: 70,715,406 (GRCm39) |
V910M |
probably benign |
Het |
Brdt |
G |
A |
5: 107,507,802 (GRCm39) |
A677T |
probably benign |
Het |
Cadps2 |
A |
T |
6: 23,587,578 (GRCm39) |
M304K |
probably damaging |
Het |
Car9 |
A |
T |
4: 43,507,267 (GRCm39) |
D71V |
possibly damaging |
Het |
Chml |
A |
T |
1: 175,514,723 (GRCm39) |
Y399* |
probably null |
Het |
Cilk1 |
T |
A |
9: 78,075,071 (GRCm39) |
|
probably benign |
Het |
Clasp1 |
A |
G |
1: 118,430,765 (GRCm39) |
|
probably benign |
Het |
Cpvl |
A |
T |
6: 53,951,605 (GRCm39) |
|
probably null |
Het |
Crocc2 |
G |
A |
1: 93,096,516 (GRCm39) |
V24M |
possibly damaging |
Het |
Cxcl16 |
T |
C |
11: 70,346,255 (GRCm39) |
Y226C |
probably damaging |
Het |
Dio3 |
G |
T |
12: 110,246,444 (GRCm39) |
R260L |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,353,796 (GRCm39) |
L724P |
probably damaging |
Het |
Dnah7a |
A |
C |
1: 53,495,816 (GRCm39) |
F3214V |
possibly damaging |
Het |
Dpy19l4 |
A |
T |
4: 11,295,999 (GRCm39) |
Y223* |
probably null |
Het |
Dpysl4 |
T |
C |
7: 138,678,537 (GRCm39) |
V499A |
probably damaging |
Het |
Ets2 |
A |
T |
16: 95,512,818 (GRCm39) |
K101N |
probably benign |
Het |
Fbn2 |
A |
T |
18: 58,323,341 (GRCm39) |
Y200* |
probably null |
Het |
Fem1c |
A |
T |
18: 46,639,015 (GRCm39) |
I329N |
probably damaging |
Het |
Fhip1b |
A |
G |
7: 105,037,431 (GRCm39) |
I384T |
probably damaging |
Het |
Gm8919 |
T |
C |
3: 11,724,530 (GRCm39) |
|
noncoding transcript |
Het |
H2-Q5 |
A |
T |
17: 35,616,056 (GRCm39) |
H206L |
probably benign |
Het |
Hexa |
T |
C |
9: 59,464,602 (GRCm39) |
F164S |
probably benign |
Het |
Hk1 |
G |
T |
10: 62,194,194 (GRCm39) |
|
probably benign |
Het |
Itih4 |
G |
A |
14: 30,623,626 (GRCm39) |
G915R |
probably damaging |
Het |
Kcnq5 |
A |
T |
1: 21,475,292 (GRCm39) |
|
probably null |
Het |
Krtap10-4 |
A |
T |
10: 77,662,630 (GRCm39) |
|
probably benign |
Het |
Maml3 |
G |
T |
3: 51,763,013 (GRCm39) |
H650Q |
probably damaging |
Het |
Mief1 |
C |
A |
15: 80,132,454 (GRCm39) |
P112Q |
probably benign |
Het |
Morc3 |
A |
G |
16: 93,661,856 (GRCm39) |
E472G |
probably benign |
Het |
Nap1l1 |
T |
A |
10: 111,328,741 (GRCm39) |
Y223* |
probably null |
Het |
Nfix |
A |
T |
8: 85,453,119 (GRCm39) |
W312R |
probably damaging |
Het |
Nfkbie |
A |
T |
17: 45,869,510 (GRCm39) |
N155I |
probably damaging |
Het |
Nlgn2 |
A |
T |
11: 69,724,912 (GRCm39) |
M118K |
probably damaging |
Het |
Nlrp5 |
A |
T |
7: 23,117,173 (GRCm39) |
Y299F |
probably benign |
Het |
Nnt |
T |
C |
13: 119,494,072 (GRCm39) |
I556V |
possibly damaging |
Het |
Oasl2 |
A |
T |
5: 115,037,857 (GRCm39) |
I85F |
possibly damaging |
Het |
Ogg1 |
A |
C |
6: 113,305,393 (GRCm39) |
T69P |
probably damaging |
Het |
Olfml2a |
G |
T |
2: 38,847,733 (GRCm39) |
V431L |
probably damaging |
Het |
Or4d5 |
T |
C |
9: 40,012,102 (GRCm39) |
H228R |
possibly damaging |
Het |
Or5p79 |
A |
T |
7: 108,221,711 (GRCm39) |
M231L |
probably benign |
Het |
Palb2 |
G |
T |
7: 121,723,946 (GRCm39) |
A601E |
probably benign |
Het |
Pcdhb20 |
G |
A |
18: 37,638,849 (GRCm39) |
M458I |
probably benign |
Het |
Pde11a |
T |
C |
2: 76,121,585 (GRCm39) |
D332G |
possibly damaging |
Het |
Pkd1l1 |
C |
T |
11: 8,908,964 (GRCm39) |
E347K |
unknown |
Het |
Pou2af1 |
G |
A |
9: 51,149,525 (GRCm39) |
V206I |
possibly damaging |
Het |
Prr16 |
A |
G |
18: 51,251,139 (GRCm39) |
D46G |
possibly damaging |
Het |
Pus1 |
A |
G |
5: 110,928,184 (GRCm39) |
M1T |
probably null |
Het |
Pygm |
T |
A |
19: 6,441,439 (GRCm39) |
V566D |
possibly damaging |
Het |
Rb1 |
T |
A |
14: 73,499,954 (GRCm39) |
|
probably benign |
Het |
Rhoj |
A |
T |
12: 75,446,980 (GRCm39) |
K200* |
probably null |
Het |
Rnf213 |
A |
G |
11: 119,328,521 (GRCm39) |
I1985V |
possibly damaging |
Het |
Septin11 |
G |
T |
5: 93,310,113 (GRCm39) |
M305I |
possibly damaging |
Het |
Setdb2 |
T |
C |
14: 59,653,153 (GRCm39) |
Y383C |
probably damaging |
Het |
Sfpq |
G |
C |
4: 126,915,404 (GRCm39) |
Q65H |
unknown |
Het |
Skic8 |
A |
G |
9: 54,635,463 (GRCm39) |
V46A |
probably benign |
Het |
Stard3nl |
G |
T |
13: 19,554,434 (GRCm39) |
A180E |
probably damaging |
Het |
Tanc2 |
A |
G |
11: 105,801,066 (GRCm39) |
N1094S |
probably benign |
Het |
Trf |
C |
T |
9: 103,089,184 (GRCm39) |
A554T |
possibly damaging |
Het |
Trmt13 |
T |
C |
3: 116,388,476 (GRCm39) |
|
probably benign |
Het |
Tubb3 |
A |
G |
8: 124,147,658 (GRCm39) |
D197G |
probably damaging |
Het |
Ube2e3 |
A |
G |
2: 78,749,056 (GRCm39) |
H135R |
probably damaging |
Het |
Ugt1a10 |
A |
T |
1: 87,983,204 (GRCm39) |
M1L |
possibly damaging |
Het |
Vmn1r233 |
A |
T |
17: 21,214,677 (GRCm39) |
I91N |
possibly damaging |
Het |
Vmn2r88 |
A |
T |
14: 51,655,531 (GRCm39) |
D580V |
probably damaging |
Het |
Vps33b |
A |
G |
7: 79,940,866 (GRCm39) |
Y593C |
probably benign |
Het |
Wdr19 |
A |
G |
5: 65,385,885 (GRCm39) |
T622A |
possibly damaging |
Het |
Wdr3 |
C |
T |
3: 100,047,516 (GRCm39) |
R853Q |
probably damaging |
Het |
Xirp1 |
T |
C |
9: 119,845,572 (GRCm39) |
T1104A |
probably benign |
Het |
Yipf1 |
G |
A |
4: 107,201,880 (GRCm39) |
|
probably null |
Het |
Zbtb17 |
A |
G |
4: 141,193,809 (GRCm39) |
D651G |
probably damaging |
Het |
Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
Zbtb43 |
A |
T |
2: 33,344,055 (GRCm39) |
M390K |
probably benign |
Het |
Zfp462 |
C |
T |
4: 55,011,889 (GRCm39) |
T1285M |
probably damaging |
Het |
|
Other mutations in Cntnap5b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00417:Cntnap5b
|
APN |
1 |
99,978,479 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00477:Cntnap5b
|
APN |
1 |
100,141,468 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00505:Cntnap5b
|
APN |
1 |
100,306,886 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL00596:Cntnap5b
|
APN |
1 |
100,306,886 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL00846:Cntnap5b
|
APN |
1 |
100,091,948 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00895:Cntnap5b
|
APN |
1 |
100,311,310 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00948:Cntnap5b
|
APN |
1 |
100,069,082 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01073:Cntnap5b
|
APN |
1 |
100,003,755 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01523:Cntnap5b
|
APN |
1 |
100,359,504 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01779:Cntnap5b
|
APN |
1 |
99,895,064 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02253:Cntnap5b
|
APN |
1 |
100,091,936 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02628:Cntnap5b
|
APN |
1 |
99,999,794 (GRCm39) |
missense |
probably damaging |
0.97 |
R0166:Cntnap5b
|
UTSW |
1 |
100,202,086 (GRCm39) |
missense |
probably benign |
0.41 |
R0211:Cntnap5b
|
UTSW |
1 |
100,406,099 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0281:Cntnap5b
|
UTSW |
1 |
99,999,878 (GRCm39) |
missense |
probably benign |
0.22 |
R0363:Cntnap5b
|
UTSW |
1 |
100,202,193 (GRCm39) |
missense |
probably benign |
0.01 |
R0514:Cntnap5b
|
UTSW |
1 |
99,700,511 (GRCm39) |
missense |
probably benign |
|
R0645:Cntnap5b
|
UTSW |
1 |
99,999,767 (GRCm39) |
splice site |
probably benign |
|
R0848:Cntnap5b
|
UTSW |
1 |
100,182,888 (GRCm39) |
missense |
probably benign |
0.22 |
R1006:Cntnap5b
|
UTSW |
1 |
100,311,342 (GRCm39) |
missense |
probably benign |
0.00 |
R1349:Cntnap5b
|
UTSW |
1 |
100,091,813 (GRCm39) |
missense |
probably benign |
0.09 |
R1372:Cntnap5b
|
UTSW |
1 |
100,091,813 (GRCm39) |
missense |
probably benign |
0.09 |
R1474:Cntnap5b
|
UTSW |
1 |
99,999,814 (GRCm39) |
missense |
probably benign |
0.25 |
R1681:Cntnap5b
|
UTSW |
1 |
100,003,832 (GRCm39) |
missense |
probably damaging |
0.98 |
R1727:Cntnap5b
|
UTSW |
1 |
100,141,469 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1760:Cntnap5b
|
UTSW |
1 |
99,700,535 (GRCm39) |
missense |
probably benign |
0.05 |
R1777:Cntnap5b
|
UTSW |
1 |
100,297,803 (GRCm39) |
missense |
probably benign |
0.10 |
R1939:Cntnap5b
|
UTSW |
1 |
99,895,073 (GRCm39) |
missense |
probably benign |
|
R1988:Cntnap5b
|
UTSW |
1 |
99,999,865 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2069:Cntnap5b
|
UTSW |
1 |
100,286,450 (GRCm39) |
missense |
probably benign |
0.04 |
R2113:Cntnap5b
|
UTSW |
1 |
100,202,140 (GRCm39) |
missense |
probably benign |
|
R2148:Cntnap5b
|
UTSW |
1 |
100,311,199 (GRCm39) |
missense |
probably benign |
0.01 |
R2158:Cntnap5b
|
UTSW |
1 |
100,318,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R2223:Cntnap5b
|
UTSW |
1 |
100,141,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R2350:Cntnap5b
|
UTSW |
1 |
100,306,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R3840:Cntnap5b
|
UTSW |
1 |
100,311,202 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4329:Cntnap5b
|
UTSW |
1 |
99,999,888 (GRCm39) |
missense |
probably damaging |
0.99 |
R4799:Cntnap5b
|
UTSW |
1 |
100,286,450 (GRCm39) |
missense |
probably benign |
0.04 |
R5129:Cntnap5b
|
UTSW |
1 |
100,306,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R5323:Cntnap5b
|
UTSW |
1 |
100,311,275 (GRCm39) |
nonsense |
probably null |
|
R5434:Cntnap5b
|
UTSW |
1 |
99,999,926 (GRCm39) |
missense |
probably benign |
0.02 |
R5579:Cntnap5b
|
UTSW |
1 |
100,311,124 (GRCm39) |
missense |
probably benign |
0.27 |
R5579:Cntnap5b
|
UTSW |
1 |
100,311,120 (GRCm39) |
nonsense |
probably null |
|
R5630:Cntnap5b
|
UTSW |
1 |
99,999,794 (GRCm39) |
missense |
probably damaging |
0.99 |
R5644:Cntnap5b
|
UTSW |
1 |
100,311,326 (GRCm39) |
missense |
probably benign |
0.00 |
R5761:Cntnap5b
|
UTSW |
1 |
100,374,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R6042:Cntnap5b
|
UTSW |
1 |
100,318,317 (GRCm39) |
missense |
probably benign |
|
R6147:Cntnap5b
|
UTSW |
1 |
99,978,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R6190:Cntnap5b
|
UTSW |
1 |
100,306,800 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6248:Cntnap5b
|
UTSW |
1 |
99,999,827 (GRCm39) |
missense |
probably benign |
0.30 |
R6286:Cntnap5b
|
UTSW |
1 |
100,182,798 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6306:Cntnap5b
|
UTSW |
1 |
100,091,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R6336:Cntnap5b
|
UTSW |
1 |
100,286,394 (GRCm39) |
missense |
probably benign |
0.00 |
R6360:Cntnap5b
|
UTSW |
1 |
100,359,461 (GRCm39) |
nonsense |
probably null |
|
R6722:Cntnap5b
|
UTSW |
1 |
100,406,211 (GRCm39) |
missense |
probably damaging |
0.98 |
R6750:Cntnap5b
|
UTSW |
1 |
100,202,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R6806:Cntnap5b
|
UTSW |
1 |
99,868,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R6933:Cntnap5b
|
UTSW |
1 |
100,311,175 (GRCm39) |
missense |
probably benign |
0.01 |
R6957:Cntnap5b
|
UTSW |
1 |
100,202,197 (GRCm39) |
missense |
probably benign |
0.08 |
R6958:Cntnap5b
|
UTSW |
1 |
100,202,197 (GRCm39) |
missense |
probably benign |
0.08 |
R6959:Cntnap5b
|
UTSW |
1 |
100,202,197 (GRCm39) |
missense |
probably benign |
0.08 |
R6961:Cntnap5b
|
UTSW |
1 |
100,202,197 (GRCm39) |
missense |
probably benign |
0.08 |
R6962:Cntnap5b
|
UTSW |
1 |
100,202,197 (GRCm39) |
missense |
probably benign |
0.08 |
R7088:Cntnap5b
|
UTSW |
1 |
100,087,802 (GRCm39) |
missense |
probably damaging |
0.99 |
R7146:Cntnap5b
|
UTSW |
1 |
99,978,519 (GRCm39) |
splice site |
probably null |
|
R7165:Cntnap5b
|
UTSW |
1 |
100,003,887 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7190:Cntnap5b
|
UTSW |
1 |
100,359,574 (GRCm39) |
splice site |
probably null |
|
R7376:Cntnap5b
|
UTSW |
1 |
99,894,994 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7385:Cntnap5b
|
UTSW |
1 |
100,306,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R8053:Cntnap5b
|
UTSW |
1 |
100,318,402 (GRCm39) |
missense |
probably damaging |
0.98 |
R8080:Cntnap5b
|
UTSW |
1 |
99,999,928 (GRCm39) |
missense |
probably benign |
0.16 |
R8082:Cntnap5b
|
UTSW |
1 |
100,306,941 (GRCm39) |
missense |
probably benign |
0.00 |
R8271:Cntnap5b
|
UTSW |
1 |
99,999,832 (GRCm39) |
missense |
probably benign |
0.00 |
R8303:Cntnap5b
|
UTSW |
1 |
100,069,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R8428:Cntnap5b
|
UTSW |
1 |
100,311,310 (GRCm39) |
missense |
probably damaging |
0.98 |
R9131:Cntnap5b
|
UTSW |
1 |
99,978,368 (GRCm39) |
missense |
probably benign |
0.22 |
R9144:Cntnap5b
|
UTSW |
1 |
99,978,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R9522:Cntnap5b
|
UTSW |
1 |
100,412,347 (GRCm39) |
missense |
probably benign |
0.00 |
R9611:Cntnap5b
|
UTSW |
1 |
99,894,935 (GRCm39) |
missense |
probably damaging |
1.00 |
RF007:Cntnap5b
|
UTSW |
1 |
100,091,795 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Cntnap5b
|
UTSW |
1 |
100,359,573 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Cntnap5b
|
UTSW |
1 |
100,374,565 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Cntnap5b
|
UTSW |
1 |
100,091,953 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1176:Cntnap5b
|
UTSW |
1 |
99,894,995 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Cntnap5b
|
UTSW |
1 |
99,978,431 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCAGTGGAGGATCTGAGAAGC -3'
(R):5'- AGCAGAGCAAGCTCCTTACAG -3'
Sequencing Primer
(F):5'- TGAAGGAGAAGAGTGTCTGTTTAAG -3'
(R):5'- AGAGCAAGCTCCTTACAGTTCTG -3'
|
Posted On |
2015-09-25 |