Incidental Mutation 'R1939:Cntnap5b'
ID |
213773 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap5b
|
Ensembl Gene |
ENSMUSG00000067028 |
Gene Name |
contactin associated protein-like 5B |
Synonyms |
C230078M14Rik, Caspr5-2 |
MMRRC Submission |
039957-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R1939 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
99700490-100413667 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99895073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 115
(H115R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086738]
|
AlphaFold |
Q0V8T8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086738
AA Change: H115R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083944 Gene: ENSMUSG00000067028 AA Change: H115R
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: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L24Rik |
T |
A |
11: 83,331,130 (GRCm39) |
W11R |
probably damaging |
Het |
2700049A03Rik |
A |
G |
12: 71,207,186 (GRCm39) |
|
probably null |
Het |
4933409G03Rik |
T |
C |
2: 68,419,328 (GRCm39) |
S26P |
possibly damaging |
Het |
Ace2 |
A |
T |
X: 162,939,524 (GRCm39) |
M123L |
possibly damaging |
Het |
Acot3 |
A |
G |
12: 84,105,325 (GRCm39) |
N264S |
probably benign |
Het |
Acvr1c |
A |
T |
2: 58,173,517 (GRCm39) |
N248K |
probably damaging |
Het |
Adam22 |
A |
T |
5: 8,380,015 (GRCm39) |
F94L |
probably damaging |
Het |
Adarb2 |
T |
C |
13: 8,253,358 (GRCm39) |
|
probably null |
Het |
Aldh1b1 |
A |
G |
4: 45,802,755 (GRCm39) |
M98V |
possibly damaging |
Het |
Arfgef2 |
T |
A |
2: 166,715,548 (GRCm39) |
V1331D |
probably damaging |
Het |
Atf2 |
G |
A |
2: 73,676,563 (GRCm39) |
P184S |
probably damaging |
Het |
Atp8b3 |
A |
T |
10: 80,361,220 (GRCm39) |
C785* |
probably null |
Het |
Birc6 |
T |
C |
17: 74,977,332 (GRCm39) |
S4362P |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,731,077 (GRCm39) |
F712S |
possibly damaging |
Het |
Chn1 |
A |
G |
2: 73,455,245 (GRCm39) |
C39R |
probably damaging |
Het |
Cngb1 |
C |
A |
8: 96,026,320 (GRCm39) |
G154W |
probably damaging |
Het |
Col23a1 |
A |
G |
11: 51,442,816 (GRCm39) |
D159G |
unknown |
Het |
Coro7 |
T |
C |
16: 4,446,596 (GRCm39) |
E843G |
probably benign |
Het |
Dnase2a |
G |
T |
8: 85,637,524 (GRCm39) |
A309S |
possibly damaging |
Het |
Dync2h1 |
A |
G |
9: 7,139,159 (GRCm39) |
|
probably null |
Het |
Engase |
T |
A |
11: 118,370,012 (GRCm39) |
N97K |
probably damaging |
Het |
Fam83b |
A |
T |
9: 76,400,362 (GRCm39) |
M247K |
probably damaging |
Het |
Fer |
T |
C |
17: 64,280,123 (GRCm39) |
S65P |
probably damaging |
Het |
Fgf10 |
A |
G |
13: 118,925,688 (GRCm39) |
R156G |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm904 |
T |
C |
13: 50,798,772 (GRCm39) |
|
probably null |
Het |
Gpat2 |
T |
A |
2: 127,277,879 (GRCm39) |
*802K |
probably null |
Het |
Hcfc2 |
G |
T |
10: 82,538,284 (GRCm39) |
R107L |
probably damaging |
Het |
Itga8 |
T |
G |
2: 12,305,657 (GRCm39) |
D111A |
probably damaging |
Het |
Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
Lgals8 |
T |
G |
13: 12,474,069 (GRCm39) |
I10L |
probably benign |
Het |
Lrp1b |
A |
G |
2: 40,587,601 (GRCm39) |
S116P |
unknown |
Het |
Mcpt1 |
A |
T |
14: 56,256,546 (GRCm39) |
K94I |
possibly damaging |
Het |
Mpnd |
T |
C |
17: 56,322,920 (GRCm39) |
F384S |
probably damaging |
Het |
Mrgprb5 |
A |
T |
7: 47,818,686 (GRCm39) |
N16K |
probably benign |
Het |
Myo15b |
A |
G |
11: 115,778,529 (GRCm39) |
T1139A |
probably benign |
Het |
Nat8f5 |
A |
C |
6: 85,794,801 (GRCm39) |
I53R |
possibly damaging |
Het |
Nav1 |
A |
T |
1: 135,393,636 (GRCm39) |
L1034Q |
probably damaging |
Het |
Nudt6 |
T |
C |
3: 37,459,379 (GRCm39) |
Y54C |
probably damaging |
Het |
Or10j3b |
G |
T |
1: 173,043,499 (GRCm39) |
A94S |
probably benign |
Het |
Or5p58 |
A |
G |
7: 107,694,348 (GRCm39) |
V143A |
probably benign |
Het |
Or6c217 |
A |
C |
10: 129,737,970 (GRCm39) |
M203R |
probably damaging |
Het |
Or8b35 |
A |
G |
9: 37,904,385 (GRCm39) |
N199S |
probably benign |
Het |
Or8c15 |
T |
A |
9: 38,120,725 (GRCm39) |
Y72* |
probably null |
Het |
Osbpl8 |
A |
T |
10: 111,125,672 (GRCm39) |
H784L |
probably benign |
Het |
Osr1 |
T |
G |
12: 9,629,687 (GRCm39) |
S187A |
probably damaging |
Het |
Pcdhgc5 |
A |
G |
18: 37,955,003 (GRCm39) |
Y759C |
probably damaging |
Het |
Pkd1l2 |
G |
T |
8: 117,772,921 (GRCm39) |
Y1035* |
probably null |
Het |
Pla2g15 |
A |
G |
8: 106,889,927 (GRCm39) |
T400A |
probably damaging |
Het |
Pms1 |
A |
C |
1: 53,236,135 (GRCm39) |
L715R |
probably damaging |
Het |
Prkd1 |
T |
C |
12: 50,441,777 (GRCm39) |
N254S |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,653,777 (GRCm39) |
V3868A |
possibly damaging |
Het |
Ptprt |
T |
C |
2: 161,769,560 (GRCm39) |
N435S |
probably benign |
Het |
Purb |
T |
C |
11: 6,424,943 (GRCm39) |
E315G |
unknown |
Het |
Rap1b |
A |
T |
10: 117,654,491 (GRCm39) |
N116K |
probably damaging |
Het |
Rmc1 |
T |
C |
18: 12,313,562 (GRCm39) |
L15P |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,267,042 (GRCm39) |
N876S |
probably benign |
Het |
Rps6ka4 |
T |
A |
19: 6,816,834 (GRCm39) |
I114F |
probably damaging |
Het |
Semp2l1 |
T |
C |
1: 32,584,627 (GRCm39) |
I428V |
probably damaging |
Het |
Sh3bp2 |
A |
G |
5: 34,708,963 (GRCm39) |
N19D |
probably damaging |
Het |
Slc16a4 |
A |
G |
3: 107,208,317 (GRCm39) |
M276V |
probably benign |
Het |
Slc17a1 |
A |
G |
13: 24,059,864 (GRCm39) |
T172A |
probably benign |
Het |
Slc4a7 |
C |
T |
14: 14,748,581 (GRCm38) |
A320V |
probably damaging |
Het |
Slco1a6 |
T |
A |
6: 142,078,956 (GRCm39) |
Y113F |
probably damaging |
Het |
Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
St3gal6 |
A |
T |
16: 58,293,924 (GRCm39) |
|
probably null |
Het |
Tdp2 |
A |
G |
13: 25,025,260 (GRCm39) |
D343G |
probably benign |
Het |
Tecpr2 |
T |
A |
12: 110,899,603 (GRCm39) |
L657Q |
probably damaging |
Het |
Tet2 |
T |
C |
3: 133,194,399 (GRCm39) |
T12A |
possibly damaging |
Het |
Trappc6a |
T |
A |
7: 19,248,426 (GRCm39) |
F28I |
probably damaging |
Het |
Trim32 |
G |
A |
4: 65,532,303 (GRCm39) |
V287I |
probably benign |
Het |
Trpd52l3 |
T |
C |
19: 29,981,289 (GRCm39) |
S15P |
probably damaging |
Het |
Tsnaxip1 |
A |
G |
8: 106,566,670 (GRCm39) |
I169V |
probably benign |
Het |
Ttc34 |
G |
A |
4: 154,950,139 (GRCm39) |
A1031T |
possibly damaging |
Het |
Ttll11 |
T |
A |
2: 35,830,765 (GRCm39) |
Q18L |
probably null |
Het |
Ttll8 |
A |
T |
15: 88,799,689 (GRCm39) |
I584N |
probably damaging |
Het |
Ubiad1 |
A |
G |
4: 148,528,468 (GRCm39) |
L147P |
probably damaging |
Het |
Ucp3 |
T |
C |
7: 100,129,871 (GRCm39) |
V171A |
probably benign |
Het |
Vmn1r174 |
T |
A |
7: 23,453,532 (GRCm39) |
I66N |
probably damaging |
Het |
Vmn2r13 |
T |
C |
5: 109,339,852 (GRCm39) |
D41G |
possibly damaging |
Het |
Vmn2r4 |
T |
C |
3: 64,305,976 (GRCm39) |
D393G |
probably benign |
Het |
Wipf2 |
C |
T |
11: 98,783,236 (GRCm39) |
R221* |
probably null |
Het |
Zfp976 |
C |
A |
7: 42,263,105 (GRCm39) |
C244F |
unknown |
Het |
Zmym5 |
A |
G |
14: 57,036,577 (GRCm39) |
V190A |
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 |
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'- TATGAAATGGTGACTTCCTAAGGC -3'
(R):5'- TGAACCAGGGCCTAGATGTGATC -3'
Sequencing Primer
(F):5'- GACTTCCTAAGGCATTATTACAAGTC -3'
(R):5'- GGCCTAGATGTGATCTCATTATTTC -3'
|
Posted On |
2014-07-14 |