Incidental Mutation 'R6750:Cntnap5b'
ID |
530674 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap5b
|
Ensembl Gene |
ENSMUSG00000067028 |
Gene Name |
contactin associated protein-like 5B |
Synonyms |
C230078M14Rik, Caspr5-2 |
MMRRC Submission |
044867-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R6750 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
99700490-100413667 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100202224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 357
(S357L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086738]
[ENSMUST00000188735]
|
AlphaFold |
Q0V8T8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086738
AA Change: S671L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000083944 Gene: ENSMUSG00000067028 AA Change: S671L
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 |
noncoding transcript
Transcript: ENSMUST00000185484
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188735
AA Change: S357L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139877 Gene: ENSMUSG00000067028 AA Change: S357L
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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adal |
A |
T |
2: 120,973,130 (GRCm39) |
L62F |
probably damaging |
Het |
Akap13 |
C |
T |
7: 75,389,206 (GRCm39) |
P2375S |
probably benign |
Het |
Apob |
T |
A |
12: 8,047,853 (GRCm39) |
L931Q |
probably damaging |
Het |
Arcn1 |
A |
G |
9: 44,661,691 (GRCm39) |
V391A |
possibly damaging |
Het |
Ccdc162 |
A |
T |
10: 41,437,222 (GRCm39) |
I1729N |
possibly damaging |
Het |
Cd24a |
T |
C |
10: 43,458,721 (GRCm39) |
L86P |
unknown |
Het |
Cdcp3 |
T |
A |
7: 130,889,974 (GRCm39) |
|
probably benign |
Het |
Churc1 |
C |
A |
12: 76,822,405 (GRCm39) |
H71Q |
probably damaging |
Het |
Clcn3 |
A |
G |
8: 61,367,809 (GRCm39) |
L780P |
possibly damaging |
Het |
Cldn17 |
C |
T |
16: 88,303,195 (GRCm39) |
G178E |
possibly damaging |
Het |
Cmah |
A |
G |
13: 24,648,235 (GRCm39) |
Y345C |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,660,879 (GRCm39) |
I410T |
probably damaging |
Het |
Crmp1 |
T |
C |
5: 37,422,666 (GRCm39) |
|
probably null |
Het |
Csmd2 |
A |
C |
4: 128,091,018 (GRCm39) |
N186H |
possibly damaging |
Het |
Cyp1a1 |
A |
T |
9: 57,607,539 (GRCm39) |
M56L |
probably benign |
Het |
D2hgdh |
G |
C |
1: 93,754,129 (GRCm39) |
R56P |
probably benign |
Het |
Dapk2 |
A |
G |
9: 66,128,034 (GRCm39) |
E104G |
probably damaging |
Het |
Dld |
T |
C |
12: 31,382,213 (GRCm39) |
N498S |
probably benign |
Het |
Dyrk4 |
G |
T |
6: 126,875,918 (GRCm39) |
Q106K |
probably benign |
Het |
Eif2b4 |
T |
C |
5: 31,347,304 (GRCm39) |
I333V |
probably damaging |
Het |
F5 |
A |
G |
1: 164,021,076 (GRCm39) |
T1184A |
possibly damaging |
Het |
Fbxl6 |
C |
T |
15: 76,422,612 (GRCm39) |
G102D |
probably damaging |
Het |
Foxa1 |
C |
T |
12: 57,589,396 (GRCm39) |
G275R |
probably benign |
Het |
Fryl |
A |
G |
5: 73,179,575 (GRCm39) |
I2944T |
probably damaging |
Het |
Gna15 |
T |
C |
10: 81,350,117 (GRCm39) |
D95G |
probably benign |
Het |
Greb1 |
T |
A |
12: 16,738,584 (GRCm39) |
M1460L |
probably benign |
Het |
Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
Herc2 |
T |
C |
7: 55,747,195 (GRCm39) |
I444T |
probably damaging |
Het |
Ifngr1 |
T |
A |
10: 19,485,099 (GRCm39) |
M366K |
probably benign |
Het |
Krt27 |
C |
T |
11: 99,239,806 (GRCm39) |
E253K |
probably damaging |
Het |
Mical2 |
C |
T |
7: 111,981,046 (GRCm39) |
T406I |
probably damaging |
Het |
Mocs2 |
T |
G |
13: 114,962,784 (GRCm39) |
D156E |
probably damaging |
Het |
Mprip |
A |
T |
11: 59,586,957 (GRCm39) |
K43N |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,750,106 (GRCm39) |
T190S |
possibly damaging |
Het |
Naa25 |
C |
T |
5: 121,546,372 (GRCm39) |
T86M |
probably damaging |
Het |
Ncam1 |
T |
C |
9: 49,478,639 (GRCm39) |
D163G |
probably damaging |
Het |
Nlrp4f |
A |
T |
13: 65,329,468 (GRCm39) |
Y908* |
probably null |
Het |
Nlrp9b |
T |
A |
7: 19,757,159 (GRCm39) |
L132* |
probably null |
Het |
Nrg1 |
A |
C |
8: 32,308,124 (GRCm39) |
S679A |
probably damaging |
Het |
Or1j1 |
C |
A |
2: 36,702,954 (GRCm39) |
R50M |
possibly damaging |
Het |
Or52p1 |
C |
T |
7: 104,267,320 (GRCm39) |
R145C |
probably damaging |
Het |
Paqr9 |
A |
T |
9: 95,443,050 (GRCm39) |
T347S |
probably damaging |
Het |
Pcdhb21 |
T |
C |
18: 37,647,501 (GRCm39) |
L210P |
probably damaging |
Het |
Pdzd7 |
T |
G |
19: 45,016,187 (GRCm39) |
D978A |
probably benign |
Het |
Phf8-ps |
A |
T |
17: 33,285,372 (GRCm39) |
S477T |
possibly damaging |
Het |
Pkd1l1 |
A |
T |
11: 8,923,217 (GRCm39) |
S17T |
unknown |
Het |
Plcz1 |
T |
C |
6: 139,974,164 (GRCm39) |
K93E |
possibly damaging |
Het |
Pom121l2 |
G |
C |
13: 22,166,107 (GRCm39) |
R126P |
probably damaging |
Het |
Prkg1 |
C |
T |
19: 31,741,961 (GRCm39) |
E88K |
probably benign |
Het |
Psme4 |
A |
T |
11: 30,803,203 (GRCm39) |
D15V |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,088,928 (GRCm39) |
V625A |
probably benign |
Het |
Rab27a |
G |
A |
9: 72,992,290 (GRCm39) |
S106N |
probably damaging |
Het |
Rasa4 |
A |
G |
5: 136,129,802 (GRCm39) |
T261A |
probably benign |
Het |
Sardh |
T |
C |
2: 27,118,269 (GRCm39) |
D487G |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,330,030 (GRCm39) |
Y662H |
probably benign |
Het |
Sema3d |
T |
A |
5: 12,635,067 (GRCm39) |
L711* |
probably null |
Het |
Septin14 |
T |
A |
5: 129,773,181 (GRCm39) |
Y152F |
probably damaging |
Het |
Smc5 |
A |
G |
19: 23,220,004 (GRCm39) |
L411P |
probably damaging |
Het |
Spata31e5 |
C |
A |
1: 28,816,495 (GRCm39) |
E512D |
probably damaging |
Het |
Spg7 |
T |
A |
8: 123,800,650 (GRCm39) |
V39E |
probably damaging |
Het |
Tas2r117 |
A |
G |
6: 132,779,817 (GRCm39) |
|
probably benign |
Het |
Tle1 |
A |
T |
4: 72,040,687 (GRCm39) |
I631N |
probably damaging |
Het |
Tmed3 |
T |
A |
9: 89,581,843 (GRCm39) |
S207C |
probably damaging |
Het |
Tmem59l |
G |
A |
8: 70,939,022 (GRCm39) |
P51S |
probably benign |
Het |
Trpc3 |
A |
G |
3: 36,678,542 (GRCm39) |
Y848H |
probably damaging |
Het |
Tsen2 |
T |
C |
6: 115,526,881 (GRCm39) |
F66S |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 86,003,384 (GRCm39) |
S216R |
probably damaging |
Het |
Usp22 |
A |
T |
11: 61,048,042 (GRCm39) |
V426E |
probably damaging |
Het |
Vmn2r76 |
T |
C |
7: 85,875,114 (GRCm39) |
N621S |
probably damaging |
Het |
Wdr75 |
A |
G |
1: 45,856,539 (GRCm39) |
T521A |
probably damaging |
Het |
Wrnip1 |
T |
A |
13: 32,986,739 (GRCm39) |
D173E |
probably damaging |
Het |
Zfp317 |
G |
A |
9: 19,559,100 (GRCm39) |
G438D |
probably damaging |
Het |
Zscan10 |
T |
A |
17: 23,826,164 (GRCm39) |
S109T |
possibly 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 |
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 |
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'- ACTGCTTTGTCCTTTGAGTGAC -3'
(R):5'- GAAAGAGCATTGTGACCCAC -3'
Sequencing Primer
(F):5'- AGTGACTCATGTTTATGTACTCTTGC -3'
(R):5'- GAGCACTCCACATCAGTCTTGGAG -3'
|
Posted On |
2018-08-01 |