Incidental Mutation 'R6957:Cntnap5b'
ID |
541484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap5b
|
Ensembl Gene |
ENSMUSG00000067028 |
Gene Name |
contactin associated protein-like 5B |
Synonyms |
C230078M14Rik, Caspr5-2 |
MMRRC Submission |
045068-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R6957 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
99700490-100413667 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100202197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 348
(E348G)
|
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: E662G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000083944 Gene: ENSMUSG00000067028 AA Change: E662G
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: E348G
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000139877 Gene: ENSMUSG00000067028 AA Change: E348G
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: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
A |
G |
1: 138,779,857 (GRCm39) |
S132P |
probably damaging |
Het |
Abcb5 |
A |
G |
12: 118,871,270 (GRCm39) |
F710L |
probably damaging |
Het |
Acsm4 |
T |
G |
7: 119,310,622 (GRCm39) |
V503G |
probably damaging |
Het |
Adam26a |
T |
A |
8: 44,021,940 (GRCm39) |
M517L |
probably benign |
Het |
Adcy10 |
C |
A |
1: 165,391,854 (GRCm39) |
L1345I |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,715,609 (GRCm39) |
I860V |
probably benign |
Het |
Alcam |
T |
C |
16: 52,097,257 (GRCm39) |
D333G |
probably damaging |
Het |
Amt |
C |
A |
9: 108,177,032 (GRCm39) |
F213L |
possibly damaging |
Het |
Ascc3 |
A |
G |
10: 50,604,278 (GRCm39) |
T1333A |
probably damaging |
Het |
Asxl3 |
C |
A |
18: 22,655,148 (GRCm39) |
L1053I |
probably damaging |
Het |
Atxn10 |
T |
C |
15: 85,220,699 (GRCm39) |
S12P |
probably damaging |
Het |
AU021092 |
T |
C |
16: 5,030,017 (GRCm39) |
I333V |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,886,486 (GRCm39) |
I577V |
probably benign |
Het |
Cadm2 |
A |
T |
16: 66,609,726 (GRCm39) |
F132I |
probably benign |
Het |
Casp3 |
T |
A |
8: 47,087,308 (GRCm39) |
V85D |
probably damaging |
Het |
Ccdc168 |
C |
T |
1: 44,096,367 (GRCm39) |
C1577Y |
probably benign |
Het |
Ccdc85a |
A |
T |
11: 28,342,944 (GRCm39) |
|
probably benign |
Het |
Cd22 |
T |
C |
7: 30,566,999 (GRCm39) |
R760G |
possibly damaging |
Het |
Cela3a |
A |
T |
4: 137,135,441 (GRCm39) |
W41R |
probably damaging |
Het |
Cep164 |
A |
G |
9: 45,683,578 (GRCm39) |
|
probably null |
Het |
Ddx20 |
C |
A |
3: 105,591,626 (GRCm39) |
K181N |
probably benign |
Het |
Dnah14 |
G |
C |
1: 181,612,740 (GRCm39) |
A3846P |
possibly damaging |
Het |
Ern1 |
A |
C |
11: 106,294,365 (GRCm39) |
I813S |
probably damaging |
Het |
Fam181a |
G |
A |
12: 103,282,773 (GRCm39) |
G226D |
probably damaging |
Het |
Fam186a |
T |
A |
15: 99,844,357 (GRCm39) |
D629V |
unknown |
Het |
Gipr |
T |
A |
7: 18,898,529 (GRCm39) |
T26S |
probably benign |
Het |
Gm3159 |
A |
G |
14: 4,398,530 (GRCm38) |
R74G |
possibly damaging |
Het |
Greb1l |
G |
A |
18: 10,558,786 (GRCm39) |
V1814I |
probably benign |
Het |
Hacd1 |
A |
T |
2: 14,049,664 (GRCm39) |
V98E |
probably damaging |
Het |
Iars1 |
T |
G |
13: 49,875,637 (GRCm39) |
F775V |
probably damaging |
Het |
Il12rb2 |
G |
A |
6: 67,269,636 (GRCm39) |
L726F |
possibly damaging |
Het |
Itih4 |
T |
C |
14: 30,614,560 (GRCm39) |
V474A |
probably damaging |
Het |
Kmt2a |
A |
C |
9: 44,731,319 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
T |
A |
14: 47,904,810 (GRCm39) |
L196* |
probably null |
Het |
Lipo4 |
A |
G |
19: 33,476,767 (GRCm39) |
V327A |
probably benign |
Het |
Lratd2 |
T |
C |
15: 60,694,934 (GRCm39) |
T271A |
probably benign |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Lrp4 |
C |
A |
2: 91,317,387 (GRCm39) |
T837K |
probably damaging |
Het |
Mad1l1 |
G |
T |
5: 140,051,572 (GRCm39) |
F664L |
probably damaging |
Het |
Mecr |
A |
G |
4: 131,589,172 (GRCm39) |
T247A |
probably benign |
Het |
Msi1 |
G |
A |
5: 115,583,483 (GRCm39) |
A228T |
probably benign |
Het |
Mup5 |
T |
A |
4: 61,751,273 (GRCm39) |
N125I |
probably damaging |
Het |
Mybl2 |
C |
T |
2: 162,914,728 (GRCm39) |
S282F |
possibly damaging |
Het |
Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
Nalcn |
T |
C |
14: 123,744,966 (GRCm39) |
D354G |
probably damaging |
Het |
Nckap1l |
T |
C |
15: 103,399,938 (GRCm39) |
V1040A |
possibly damaging |
Het |
Nlrp12 |
T |
A |
7: 3,271,160 (GRCm39) |
D1051V |
probably damaging |
Het |
Nudt7 |
A |
G |
8: 114,860,385 (GRCm39) |
K16R |
probably benign |
Het |
Or4b1 |
G |
T |
2: 89,979,494 (GRCm39) |
Y285* |
probably null |
Het |
Or8g29-ps1 |
A |
G |
9: 39,200,577 (GRCm39) |
V203A |
unknown |
Het |
Paqr3 |
A |
T |
5: 97,256,110 (GRCm39) |
I88K |
possibly damaging |
Het |
Parp9 |
A |
G |
16: 35,768,716 (GRCm39) |
M299V |
probably benign |
Het |
Pde4dip |
A |
T |
3: 97,731,649 (GRCm39) |
|
probably null |
Het |
Pex13 |
T |
G |
11: 23,605,628 (GRCm39) |
M201L |
probably benign |
Het |
Pfas |
C |
A |
11: 68,884,709 (GRCm39) |
V498L |
probably benign |
Het |
Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
Plec |
T |
A |
15: 76,070,414 (GRCm39) |
D932V |
probably damaging |
Het |
Qng1 |
C |
A |
13: 58,529,775 (GRCm39) |
C279F |
probably damaging |
Het |
Qsox2 |
C |
T |
2: 26,107,654 (GRCm39) |
A445T |
probably benign |
Het |
Rapgef1 |
C |
A |
2: 29,623,710 (GRCm39) |
Q820K |
possibly damaging |
Het |
Samd13 |
A |
G |
3: 146,368,424 (GRCm39) |
|
probably null |
Het |
Samm50 |
G |
T |
15: 84,082,850 (GRCm39) |
D104Y |
probably damaging |
Het |
Sbk3 |
A |
T |
7: 4,970,522 (GRCm39) |
F282L |
probably benign |
Het |
Sfmbt1 |
C |
T |
14: 30,509,546 (GRCm39) |
H342Y |
probably benign |
Het |
Sgo2b |
CCATCATCATCATCATCATCAT |
CCATCATCATCATCATCAT |
8: 64,384,489 (GRCm39) |
|
probably benign |
Het |
Slc12a2 |
T |
A |
18: 58,043,344 (GRCm39) |
L596* |
probably null |
Het |
Spata31h1 |
A |
T |
10: 82,129,620 (GRCm39) |
I1130K |
probably benign |
Het |
St8sia3 |
T |
C |
18: 64,404,853 (GRCm39) |
S377P |
probably benign |
Het |
Stmnd1 |
T |
G |
13: 46,427,375 (GRCm39) |
S28A |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,920,561 (GRCm39) |
L458Q |
probably damaging |
Het |
Synm |
C |
T |
7: 67,385,848 (GRCm39) |
V163I |
probably benign |
Het |
Tbc1d23 |
A |
G |
16: 57,028,686 (GRCm39) |
C161R |
probably damaging |
Het |
Tnfrsf4 |
G |
A |
4: 156,100,625 (GRCm39) |
V215I |
probably benign |
Het |
Vars2 |
T |
G |
17: 35,977,967 (GRCm39) |
K67Q |
probably benign |
Het |
Vmn2r13 |
A |
T |
5: 109,304,753 (GRCm39) |
Y559* |
probably null |
Het |
Wdpcp |
T |
C |
11: 21,671,154 (GRCm39) |
I465T |
possibly damaging |
Het |
Zwilch |
A |
C |
9: 64,069,844 (GRCm39) |
|
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 |
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 |
2018-11-28 |