Incidental Mutation 'R1681:Cntnap5b'
ID |
188463 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap5b
|
Ensembl Gene |
ENSMUSG00000067028 |
Gene Name |
contactin associated protein-like 5B |
Synonyms |
C230078M14Rik, Caspr5-2 |
MMRRC Submission |
039717-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R1681 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
99700490-100413667 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100003832 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 271
(S271P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086738]
|
AlphaFold |
Q0V8T8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086738
AA Change: S271P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000083944 Gene: ENSMUSG00000067028 AA Change: S271P
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,117,011 (GRCm39) |
I247N |
probably damaging |
Het |
Ankle1 |
G |
T |
8: 71,860,262 (GRCm39) |
S260I |
probably benign |
Het |
Aoc2 |
T |
C |
11: 101,216,018 (GRCm39) |
S34P |
probably benign |
Het |
Ap1m1 |
A |
C |
8: 73,009,966 (GRCm39) |
I397L |
possibly damaging |
Het |
Apba1 |
C |
A |
19: 23,913,925 (GRCm39) |
D649E |
probably damaging |
Het |
Aptx |
C |
T |
4: 40,697,274 (GRCm39) |
V25M |
probably benign |
Het |
Arhgef18 |
G |
A |
8: 3,489,645 (GRCm39) |
G326R |
probably damaging |
Het |
Atm |
A |
C |
9: 53,433,455 (GRCm39) |
I265S |
possibly damaging |
Het |
B3galt4 |
A |
T |
17: 34,170,187 (GRCm39) |
V17E |
probably benign |
Het |
Bcl7a |
T |
A |
5: 123,494,086 (GRCm39) |
M86K |
possibly damaging |
Het |
Calhm6 |
A |
G |
10: 34,003,896 (GRCm39) |
F4L |
probably benign |
Het |
Cela3a |
T |
A |
4: 137,129,995 (GRCm39) |
|
probably null |
Het |
Cep85 |
T |
A |
4: 133,876,039 (GRCm39) |
K456* |
probably null |
Het |
Ces1f |
C |
A |
8: 94,002,042 (GRCm39) |
A29S |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,699,763 (GRCm39) |
I598F |
probably damaging |
Het |
Cntln |
T |
C |
4: 84,865,872 (GRCm39) |
L176S |
probably damaging |
Het |
Cntn3 |
A |
T |
6: 102,147,629 (GRCm39) |
N909K |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,701,224 (GRCm39) |
H2564L |
unknown |
Het |
Cyp2b19 |
C |
A |
7: 26,462,765 (GRCm39) |
|
probably null |
Het |
Dapk1 |
G |
T |
13: 60,866,278 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
A |
1: 46,363,872 (GRCm39) |
Y3497* |
probably null |
Het |
Duoxa2 |
T |
C |
2: 122,129,643 (GRCm39) |
|
probably null |
Het |
Eny2 |
T |
C |
15: 44,295,874 (GRCm39) |
W42R |
probably damaging |
Het |
Epha3 |
A |
G |
16: 63,416,091 (GRCm39) |
V635A |
probably damaging |
Het |
Fam167b |
G |
C |
4: 129,472,069 (GRCm39) |
Q34E |
probably benign |
Het |
Fancm |
T |
C |
12: 65,152,430 (GRCm39) |
M962T |
probably benign |
Het |
Gimap8 |
T |
A |
6: 48,633,345 (GRCm39) |
I388N |
probably benign |
Het |
Gpaa1 |
A |
G |
15: 76,215,653 (GRCm39) |
T22A |
probably benign |
Het |
Hoxc11 |
T |
C |
15: 102,863,591 (GRCm39) |
S211P |
possibly damaging |
Het |
Hsd17b12 |
T |
C |
2: 93,863,906 (GRCm39) |
N312S |
unknown |
Het |
Idh2 |
T |
G |
7: 79,748,906 (GRCm39) |
E125A |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,036,077 (GRCm39) |
Y712C |
probably damaging |
Het |
Kank1 |
T |
C |
19: 25,387,668 (GRCm39) |
V447A |
possibly damaging |
Het |
Kif1b |
T |
A |
4: 149,279,958 (GRCm39) |
|
probably null |
Het |
Klc4 |
A |
T |
17: 46,947,696 (GRCm39) |
D335E |
probably damaging |
Het |
Klhl33 |
T |
A |
14: 51,130,534 (GRCm39) |
D320V |
probably benign |
Het |
Krt73 |
A |
T |
15: 101,710,482 (GRCm39) |
M84K |
possibly damaging |
Het |
Kti12 |
T |
A |
4: 108,706,055 (GRCm39) |
I323N |
probably damaging |
Het |
Kynu |
T |
C |
2: 43,569,837 (GRCm39) |
L373P |
probably damaging |
Het |
Lats1 |
T |
C |
10: 7,581,678 (GRCm39) |
M821T |
probably damaging |
Het |
Lnx1 |
A |
T |
5: 74,846,071 (GRCm39) |
H126Q |
probably benign |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Lrrc4b |
T |
A |
7: 44,110,601 (GRCm39) |
Y158N |
probably damaging |
Het |
Lrrc74b |
C |
A |
16: 17,377,617 (GRCm39) |
R87L |
probably damaging |
Het |
Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
Mrpl38 |
G |
A |
11: 116,029,255 (GRCm39) |
|
probably benign |
Het |
Mtcl2 |
T |
C |
2: 156,872,450 (GRCm39) |
T966A |
possibly damaging |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Nlrp1a |
T |
A |
11: 71,033,184 (GRCm39) |
E3D |
unknown |
Het |
Nphs2 |
T |
A |
1: 156,148,468 (GRCm39) |
D110E |
probably damaging |
Het |
Nxn |
T |
A |
11: 76,163,290 (GRCm39) |
K244N |
probably benign |
Het |
Oas3 |
A |
T |
5: 120,907,973 (GRCm39) |
F322L |
probably benign |
Het |
Obscn |
T |
A |
11: 58,994,151 (GRCm39) |
Y1577F |
probably damaging |
Het |
Or10ag57 |
G |
A |
2: 87,218,964 (GRCm39) |
R305K |
possibly damaging |
Het |
Or8b47 |
T |
A |
9: 38,435,413 (GRCm39) |
N128K |
probably benign |
Het |
Or8b50 |
G |
A |
9: 38,518,244 (GRCm39) |
G161D |
probably damaging |
Het |
Or8b52 |
A |
G |
9: 38,576,616 (GRCm39) |
Y175H |
probably benign |
Het |
Or8d2 |
T |
C |
9: 38,759,809 (GRCm39) |
M133T |
probably damaging |
Het |
Panx1 |
T |
C |
9: 14,919,079 (GRCm39) |
D260G |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,606,866 (GRCm39) |
Y33H |
probably damaging |
Het |
Pik3ap1 |
C |
A |
19: 41,296,968 (GRCm39) |
V461F |
probably damaging |
Het |
Plpp3 |
G |
A |
4: 105,066,002 (GRCm39) |
|
probably null |
Het |
Prtn3 |
A |
T |
10: 79,716,375 (GRCm39) |
T61S |
probably benign |
Het |
Psen1 |
T |
A |
12: 83,771,394 (GRCm39) |
Y225N |
probably damaging |
Het |
Rab44 |
T |
A |
17: 29,359,098 (GRCm39) |
S429T |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,809,388 (GRCm39) |
I462M |
probably benign |
Het |
Rbfox3 |
T |
C |
11: 118,396,495 (GRCm39) |
N105S |
probably damaging |
Het |
Rbm7 |
A |
C |
9: 48,401,021 (GRCm39) |
Y236D |
possibly damaging |
Het |
Samhd1 |
T |
C |
2: 156,943,652 (GRCm39) |
T621A |
probably benign |
Het |
Samt3 |
C |
A |
X: 85,090,256 (GRCm39) |
D49E |
probably benign |
Het |
Sass6 |
T |
C |
3: 116,397,122 (GRCm39) |
V26A |
possibly damaging |
Het |
Scn11a |
C |
T |
9: 119,633,478 (GRCm39) |
M418I |
possibly damaging |
Het |
Scrib |
T |
C |
15: 75,936,416 (GRCm39) |
E480G |
probably damaging |
Het |
Sec24a |
T |
G |
11: 51,586,016 (GRCm39) |
T1071P |
probably damaging |
Het |
Siglecg |
A |
C |
7: 43,058,365 (GRCm39) |
E84A |
probably benign |
Het |
Slc6a17 |
C |
T |
3: 107,381,702 (GRCm39) |
V419I |
probably damaging |
Het |
Ssr2 |
T |
C |
3: 88,488,349 (GRCm39) |
M75T |
possibly damaging |
Het |
Tbc1d22b |
A |
G |
17: 29,794,151 (GRCm39) |
T275A |
possibly damaging |
Het |
Tbx15 |
T |
A |
3: 99,259,140 (GRCm39) |
|
probably null |
Het |
Tll1 |
A |
C |
8: 64,538,585 (GRCm39) |
L353R |
possibly damaging |
Het |
Tlr4 |
C |
T |
4: 66,759,342 (GRCm39) |
P712S |
probably damaging |
Het |
Tmem145 |
T |
A |
7: 25,014,159 (GRCm39) |
F424L |
possibly damaging |
Het |
Tnrc18 |
T |
C |
5: 142,759,572 (GRCm39) |
K755E |
unknown |
Het |
Trmt44 |
A |
G |
5: 35,727,321 (GRCm39) |
I298T |
probably benign |
Het |
Vmn1r69 |
A |
G |
7: 10,314,179 (GRCm39) |
V184A |
probably benign |
Het |
Zfp84 |
T |
C |
7: 29,476,825 (GRCm39) |
C506R |
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 |
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 |
R4609:Cntnap5b
|
UTSW |
1 |
99,700,572 (GRCm39) |
critical splice donor site |
probably null |
|
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'- TGAGACGAAAGCCTGTTGCATGAC -3'
(R):5'- TTTCTCCCTGGTAGCCCAGCTAAG -3'
Sequencing Primer
(F):5'- GACATTTTCCAAATGCTCAGTGG -3'
(R):5'- CCTGGTAGCCCAGCTAAGATAAAG -3'
|
Posted On |
2014-05-09 |