Incidental Mutation 'R7088:Cntnap5b'
ID |
549979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap5b
|
Ensembl Gene |
ENSMUSG00000067028 |
Gene Name |
contactin associated protein-like 5B |
Synonyms |
C230078M14Rik, Caspr5-2 |
MMRRC Submission |
045182-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.179)
|
Stock # |
R7088 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
99700490-100413667 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100087802 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 141
(I141N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086738]
[ENSMUST00000188735]
|
AlphaFold |
Q0V8T8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086738
AA Change: I455N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000083944 Gene: ENSMUSG00000067028 AA Change: I455N
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 damaging
Transcript: ENSMUST00000188735
AA Change: I141N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139877 Gene: ENSMUSG00000067028 AA Change: I141N
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L24Rik |
G |
T |
11: 83,331,232 (GRCm39) |
E48* |
probably null |
Het |
Acaca |
T |
C |
11: 84,169,783 (GRCm39) |
|
probably null |
Het |
Albfm1 |
T |
A |
5: 90,720,609 (GRCm39) |
L260* |
probably null |
Het |
Alkbh3 |
A |
G |
2: 93,835,097 (GRCm39) |
S83P |
possibly damaging |
Het |
Ammecr1l |
T |
C |
18: 31,904,872 (GRCm39) |
S38P |
probably benign |
Het |
Armc10 |
T |
C |
5: 21,858,390 (GRCm39) |
V145A |
probably damaging |
Het |
BC048671 |
A |
G |
6: 90,280,222 (GRCm39) |
K46R |
probably null |
Het |
C2cd3 |
A |
G |
7: 100,065,388 (GRCm39) |
T347A |
|
Het |
C8b |
G |
T |
4: 104,650,540 (GRCm39) |
E449D |
probably benign |
Het |
Camk4 |
T |
C |
18: 33,072,584 (GRCm39) |
S46P |
probably benign |
Het |
Ccdc113 |
G |
A |
8: 96,264,733 (GRCm39) |
R81H |
probably benign |
Het |
Cd177 |
A |
T |
7: 24,444,558 (GRCm39) |
C674* |
probably null |
Het |
Cdc6 |
T |
A |
11: 98,810,065 (GRCm39) |
V458D |
probably damaging |
Het |
Cenpo |
C |
T |
12: 4,265,307 (GRCm39) |
E238K |
probably benign |
Het |
Ckap2 |
G |
T |
8: 22,659,882 (GRCm39) |
P533Q |
possibly damaging |
Het |
Cma1 |
T |
A |
14: 56,181,273 (GRCm39) |
H44L |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,228,372 (GRCm39) |
S2239T |
possibly damaging |
Het |
Col6a4 |
T |
A |
9: 105,877,885 (GRCm39) |
T2031S |
possibly damaging |
Het |
Cplane1 |
C |
T |
15: 8,248,431 (GRCm39) |
T1660M |
probably benign |
Het |
Cxcr5 |
T |
A |
9: 44,424,683 (GRCm39) |
T325S |
possibly damaging |
Het |
Dhx32 |
A |
T |
7: 133,344,417 (GRCm39) |
L204Q |
probably damaging |
Het |
Dse |
A |
G |
10: 34,029,885 (GRCm39) |
Y402H |
probably damaging |
Het |
Ecpas |
A |
T |
4: 58,849,766 (GRCm39) |
L458I |
possibly damaging |
Het |
Exoc6 |
G |
T |
19: 37,565,458 (GRCm39) |
C178F |
probably damaging |
Het |
Fam149a |
A |
G |
8: 45,803,582 (GRCm39) |
V384A |
probably benign |
Het |
Fcrl5 |
T |
C |
3: 87,365,141 (GRCm39) |
*597Q |
probably null |
Het |
Fer1l6 |
A |
G |
15: 58,435,899 (GRCm39) |
K431E |
possibly damaging |
Het |
Fmo3 |
T |
A |
1: 162,796,434 (GRCm39) |
H46L |
probably benign |
Het |
Gcm2 |
T |
C |
13: 41,256,840 (GRCm39) |
D303G |
probably damaging |
Het |
Gk2 |
T |
C |
5: 97,603,534 (GRCm39) |
M435V |
probably damaging |
Het |
Gli1 |
C |
A |
10: 127,171,868 (GRCm39) |
M295I |
probably damaging |
Het |
Gm11444 |
G |
T |
11: 85,737,862 (GRCm39) |
H109Q |
|
Het |
Gtpbp1 |
T |
A |
15: 79,603,483 (GRCm39) |
D182E |
|
Het |
Hnf4g |
A |
T |
3: 3,713,185 (GRCm39) |
|
probably null |
Het |
Hsf2 |
G |
A |
10: 57,388,188 (GRCm39) |
R483H |
probably damaging |
Het |
Kcnq4 |
C |
T |
4: 120,561,596 (GRCm39) |
R491H |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,715,602 (GRCm39) |
V1686A |
possibly damaging |
Het |
Larp6 |
A |
G |
9: 60,631,638 (GRCm39) |
K137E |
probably damaging |
Het |
Mboat1 |
T |
G |
13: 30,379,772 (GRCm39) |
|
probably null |
Het |
Mdh1 |
T |
C |
11: 21,508,484 (GRCm39) |
Y286C |
probably damaging |
Het |
Mga |
G |
T |
2: 119,792,417 (GRCm39) |
K2607N |
probably damaging |
Het |
Morf4l1 |
C |
A |
9: 89,979,433 (GRCm39) |
V183F |
possibly damaging |
Het |
Mroh4 |
G |
A |
15: 74,497,993 (GRCm39) |
R196W |
probably benign |
Het |
Muc16 |
C |
A |
9: 18,503,976 (GRCm39) |
M6438I |
probably damaging |
Het |
Myom3 |
A |
G |
4: 135,530,589 (GRCm39) |
Y1167C |
probably damaging |
Het |
Neurl3 |
T |
C |
1: 36,308,302 (GRCm39) |
E170G |
possibly damaging |
Het |
Nsd3 |
T |
C |
8: 26,156,050 (GRCm39) |
I539T |
probably benign |
Het |
Nup155 |
T |
C |
15: 8,186,177 (GRCm39) |
F1313S |
probably benign |
Het |
Nxn |
A |
T |
11: 76,153,974 (GRCm39) |
V287E |
possibly damaging |
Het |
Or4a80 |
G |
A |
2: 89,582,443 (GRCm39) |
T243I |
probably benign |
Het |
Or7a38 |
A |
C |
10: 78,753,593 (GRCm39) |
L306F |
probably benign |
Het |
Or8c13 |
C |
A |
9: 38,091,748 (GRCm39) |
V124F |
probably damaging |
Het |
Pax6 |
A |
G |
2: 105,526,753 (GRCm39) |
N220D |
probably benign |
Het |
Pcdha11 |
G |
A |
18: 37,138,470 (GRCm39) |
R33H |
probably benign |
Het |
Pdzd8 |
A |
G |
19: 59,333,389 (GRCm39) |
F211L |
probably damaging |
Het |
Pear1 |
C |
A |
3: 87,661,945 (GRCm39) |
V477F |
possibly damaging |
Het |
Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
Pidd1 |
A |
T |
7: 141,020,400 (GRCm39) |
V539E |
probably damaging |
Het |
Ptprg |
A |
T |
14: 12,207,365 (GRCm38) |
I878F |
probably damaging |
Het |
Rabepk |
T |
C |
2: 34,675,711 (GRCm39) |
T140A |
probably benign |
Het |
Ranbp2 |
G |
T |
10: 58,299,728 (GRCm39) |
R454L |
probably damaging |
Het |
Rnf123 |
C |
T |
9: 107,935,735 (GRCm39) |
R943Q |
probably null |
Het |
Sash1 |
G |
A |
10: 8,605,481 (GRCm39) |
R970* |
probably null |
Het |
Serpinb2 |
C |
A |
1: 107,452,422 (GRCm39) |
F333L |
probably damaging |
Het |
Shank3 |
T |
A |
15: 89,387,728 (GRCm39) |
|
probably null |
Het |
Slc9a2 |
A |
C |
1: 40,765,539 (GRCm39) |
I310L |
probably damaging |
Het |
Strip2 |
T |
A |
6: 29,920,532 (GRCm39) |
|
probably null |
Het |
Thoc3 |
T |
C |
13: 54,611,565 (GRCm39) |
T241A |
probably damaging |
Het |
Tmem139 |
T |
A |
6: 42,240,199 (GRCm39) |
V2E |
probably damaging |
Het |
Usp24 |
G |
T |
4: 106,244,743 (GRCm39) |
V1233F |
probably damaging |
Het |
Vnn1 |
A |
G |
10: 23,776,645 (GRCm39) |
Q332R |
probably benign |
Het |
Wac |
T |
A |
18: 7,921,455 (GRCm39) |
H530Q |
probably damaging |
Het |
Wdr35 |
T |
A |
12: 9,028,659 (GRCm39) |
N92K |
probably benign |
Het |
Zbtb18 |
T |
G |
1: 177,274,820 (GRCm39) |
L60R |
probably damaging |
Het |
Zfp184 |
T |
A |
13: 22,144,162 (GRCm39) |
C623S |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,806,796 (GRCm39) |
Y2088H |
probably damaging |
Het |
Zfp975 |
G |
T |
7: 42,312,096 (GRCm39) |
S172R |
probably benign |
Het |
Zswim2 |
G |
A |
2: 83,746,071 (GRCm39) |
Q456* |
probably null |
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 |
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 |
100,311,120 (GRCm39) |
nonsense |
probably null |
|
R5579:Cntnap5b
|
UTSW |
1 |
100,311,124 (GRCm39) |
missense |
probably benign |
0.27 |
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 |
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'- GCAGCCACCCATGACTATTC -3'
(R):5'- AAAGCATTGGTTGGAATCGGTTC -3'
Sequencing Primer
(F):5'- TGGCACAGATGTCCAATATTTTG -3'
(R):5'- GAATCGGTTCCTTGCCCC -3'
|
Posted On |
2019-05-15 |