Incidental Mutation 'R2148:Cntnap5b'
ID |
233975 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap5b
|
Ensembl Gene |
ENSMUSG00000067028 |
Gene Name |
contactin associated protein-like 5B |
Synonyms |
C230078M14Rik, Caspr5-2 |
MMRRC Submission |
040151-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R2148 (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 A
at 100311199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 564
(I564N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086738]
[ENSMUST00000188735]
|
AlphaFold |
Q0V8T8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086738
AA Change: I935N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000083944 Gene: ENSMUSG00000067028 AA Change: I935N
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188735
AA Change: I564N
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000139877 Gene: ENSMUSG00000067028 AA Change: I564N
Domain | Start | End | E-Value | Type |
LamG
|
73 |
207 |
5.9e-29 |
SMART |
EGF
|
235 |
269 |
5.6e-3 |
SMART |
Blast:FBG
|
272 |
402 |
2e-42 |
BLAST |
LamG
|
415 |
554 |
2.5e-11 |
SMART |
EGF
|
575 |
611 |
7.1e-3 |
SMART |
LamG
|
652 |
788 |
1.4e-15 |
SMART |
transmembrane domain
|
856 |
878 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
C |
A |
1: 71,302,647 (GRCm39) |
V2191L |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,565,764 (GRCm39) |
Y4796C |
probably damaging |
Het |
Actn2 |
A |
T |
13: 12,315,835 (GRCm39) |
M228K |
probably damaging |
Het |
Agbl1 |
T |
G |
7: 76,064,465 (GRCm39) |
|
probably null |
Het |
Ahi1 |
T |
G |
10: 20,846,875 (GRCm39) |
V435G |
possibly damaging |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
Arhgap6 |
A |
G |
X: 167,579,496 (GRCm39) |
T94A |
probably benign |
Het |
Atg4c |
C |
A |
4: 99,109,463 (GRCm39) |
N143K |
possibly damaging |
Het |
Bcor |
G |
A |
X: 11,923,862 (GRCm39) |
A578V |
possibly damaging |
Het |
Bop1 |
A |
G |
15: 76,339,487 (GRCm39) |
V286A |
probably damaging |
Het |
C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
Cacna1a |
A |
T |
8: 85,356,304 (GRCm39) |
Q1887L |
possibly damaging |
Het |
Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
Chl1 |
T |
C |
6: 103,692,362 (GRCm39) |
|
probably null |
Het |
Cnot2 |
A |
G |
10: 116,342,185 (GRCm39) |
I173T |
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cyp2j11 |
G |
A |
4: 96,204,595 (GRCm39) |
T317I |
probably damaging |
Het |
Dcaf8l |
T |
C |
X: 88,449,883 (GRCm39) |
D82G |
possibly damaging |
Het |
Dennd3 |
A |
T |
15: 73,426,909 (GRCm39) |
H762L |
probably benign |
Het |
Dgkd |
T |
G |
1: 87,809,643 (GRCm39) |
N110K |
probably damaging |
Het |
Dhx8 |
A |
T |
11: 101,629,203 (GRCm39) |
R198* |
probably null |
Het |
Dnah8 |
A |
T |
17: 30,956,232 (GRCm39) |
I2071F |
probably damaging |
Het |
Dsc3 |
C |
T |
18: 20,098,695 (GRCm39) |
R828Q |
probably damaging |
Het |
Fbxl4 |
T |
C |
4: 22,427,333 (GRCm39) |
F525L |
possibly damaging |
Het |
Glb1 |
T |
C |
9: 114,279,716 (GRCm39) |
Y375H |
probably damaging |
Het |
Gpatch1 |
A |
G |
7: 34,998,701 (GRCm39) |
V343A |
probably benign |
Het |
Gpr139 |
A |
G |
7: 118,744,192 (GRCm39) |
V131A |
probably benign |
Het |
Hamp |
T |
C |
7: 30,642,137 (GRCm39) |
T34A |
possibly damaging |
Het |
Homer2 |
T |
G |
7: 81,274,043 (GRCm39) |
D51A |
possibly damaging |
Het |
Hspa1l |
C |
T |
17: 35,196,366 (GRCm39) |
A135V |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,243,998 (GRCm39) |
M112T |
possibly damaging |
Het |
Ikbkb |
A |
T |
8: 23,172,761 (GRCm39) |
L153Q |
probably damaging |
Het |
Kif19a |
A |
T |
11: 114,671,594 (GRCm39) |
I158F |
probably damaging |
Het |
L1cam |
A |
T |
X: 72,904,747 (GRCm39) |
F536Y |
probably damaging |
Het |
Lamb3 |
T |
C |
1: 193,010,212 (GRCm39) |
V275A |
probably benign |
Het |
Lhx1 |
A |
T |
11: 84,410,647 (GRCm39) |
S226T |
probably benign |
Het |
Llcfc1 |
G |
A |
6: 41,662,155 (GRCm39) |
G53D |
possibly damaging |
Het |
Loxl4 |
A |
G |
19: 42,592,631 (GRCm39) |
|
probably null |
Het |
Magee1 |
A |
T |
X: 104,166,564 (GRCm39) |
D783V |
probably damaging |
Het |
Mak |
T |
C |
13: 41,195,513 (GRCm39) |
K400R |
probably benign |
Het |
Mgat4c |
T |
C |
10: 102,224,790 (GRCm39) |
F335L |
probably benign |
Het |
Mgat4f |
T |
A |
1: 134,318,251 (GRCm39) |
M341K |
probably damaging |
Het |
Mospd2 |
A |
G |
X: 163,739,473 (GRCm39) |
|
probably null |
Het |
Mtor |
T |
C |
4: 148,540,469 (GRCm39) |
F245L |
possibly damaging |
Het |
Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
Myo5a |
T |
A |
9: 75,087,429 (GRCm39) |
L1095H |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 71,013,733 (GRCm39) |
K506* |
probably null |
Het |
Or5d18 |
C |
A |
2: 87,864,943 (GRCm39) |
C180F |
probably damaging |
Het |
Parvb |
A |
G |
15: 84,116,369 (GRCm39) |
K33E |
possibly damaging |
Het |
Phkb |
A |
G |
8: 86,744,115 (GRCm39) |
D588G |
probably damaging |
Het |
Pkd1l2 |
A |
T |
8: 117,783,064 (GRCm39) |
I752N |
probably damaging |
Het |
Pkhd1 |
C |
A |
1: 20,484,444 (GRCm39) |
|
probably null |
Het |
Plod3 |
C |
T |
5: 137,016,627 (GRCm39) |
R30* |
probably null |
Het |
Ppfia4 |
T |
C |
1: 134,240,372 (GRCm39) |
I591V |
probably benign |
Het |
Prickle2 |
A |
G |
6: 92,402,652 (GRCm39) |
L112P |
probably damaging |
Het |
Ptgs2 |
G |
T |
1: 149,981,465 (GRCm39) |
A583S |
probably benign |
Het |
Pycr2 |
T |
C |
1: 180,734,413 (GRCm39) |
V231A |
probably damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,273,807 (GRCm39) |
D540G |
probably benign |
Het |
Rasal1 |
T |
A |
5: 120,800,096 (GRCm39) |
I150N |
probably damaging |
Het |
Rimkla |
T |
A |
4: 119,331,779 (GRCm39) |
M140L |
possibly damaging |
Het |
Sacs |
T |
C |
14: 61,410,827 (GRCm39) |
L34P |
probably damaging |
Het |
Sema3d |
A |
G |
5: 12,534,926 (GRCm39) |
Y106C |
probably damaging |
Het |
Serpinb8 |
T |
A |
1: 107,533,657 (GRCm39) |
D237E |
probably benign |
Het |
Slc19a2 |
T |
C |
1: 164,089,657 (GRCm39) |
W158R |
probably damaging |
Het |
Sorbs1 |
A |
T |
19: 40,365,268 (GRCm39) |
F172I |
possibly damaging |
Het |
Spaca7 |
A |
T |
8: 12,636,447 (GRCm39) |
D91V |
probably damaging |
Het |
Tead3 |
A |
G |
17: 28,552,638 (GRCm39) |
F187L |
probably damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Tmem131 |
C |
A |
1: 36,851,690 (GRCm39) |
V938L |
probably benign |
Het |
Tmem132c |
T |
A |
5: 127,540,026 (GRCm39) |
W351R |
probably damaging |
Het |
Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
Trap1 |
T |
C |
16: 3,878,624 (GRCm39) |
D236G |
probably damaging |
Het |
Trim45 |
T |
A |
3: 100,839,360 (GRCm39) |
L754* |
probably null |
Het |
Tubgcp5 |
A |
G |
7: 55,449,259 (GRCm39) |
E152G |
probably damaging |
Het |
Uaca |
A |
T |
9: 60,776,961 (GRCm39) |
L447F |
probably damaging |
Het |
Vps51 |
A |
G |
19: 6,118,164 (GRCm39) |
V777A |
probably benign |
Het |
Wdr11 |
A |
G |
7: 129,230,807 (GRCm39) |
|
probably null |
Het |
Zfp462 |
T |
A |
4: 55,013,670 (GRCm39) |
S1879T |
probably benign |
Het |
Zfr2 |
T |
G |
10: 81,077,950 (GRCm39) |
V259G |
probably benign |
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 |
|
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'- TGTGACCACAGCAGACTCTC -3'
(R):5'- CAATGGTGTGGATTGCCTAAGG -3'
Sequencing Primer
(F):5'- GCAGACTCTCATTCTGACAAGGG -3'
(R):5'- CCTAAGGGCATAGAAACATTGAC -3'
|
Posted On |
2014-10-01 |