Incidental Mutation 'R6962:Cntnap5b'
ID |
541787 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap5b
|
Ensembl Gene |
ENSMUSG00000067028 |
Gene Name |
contactin associated protein-like 5B |
Synonyms |
C230078M14Rik, Caspr5-2 |
MMRRC Submission |
045072-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R6962 (G1)
|
Quality Score |
225.009 |
Status
|
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: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
96% (74/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,949,150 (GRCm39) |
K1016E |
probably benign |
Het |
Abca3 |
T |
C |
17: 24,583,700 (GRCm39) |
F30L |
probably benign |
Het |
Arhgap17 |
C |
T |
7: 122,895,655 (GRCm39) |
G490R |
probably damaging |
Het |
Arsg |
T |
A |
11: 109,412,495 (GRCm39) |
L140H |
probably damaging |
Het |
Bmp2k |
T |
A |
5: 97,179,097 (GRCm39) |
C130* |
probably null |
Het |
C4b |
T |
C |
17: 34,951,140 (GRCm39) |
|
probably null |
Het |
Cdk5r2 |
A |
G |
1: 74,894,975 (GRCm39) |
Y240C |
probably damaging |
Het |
Col27a1 |
A |
G |
4: 63,237,738 (GRCm39) |
|
probably benign |
Het |
Cubn |
G |
A |
2: 13,352,840 (GRCm39) |
S1966F |
probably benign |
Het |
Dnajc13 |
T |
C |
9: 104,058,208 (GRCm39) |
Y1509C |
probably benign |
Het |
Dpp4 |
A |
G |
2: 62,203,174 (GRCm39) |
V265A |
probably benign |
Het |
Dync2i1 |
A |
T |
12: 116,175,398 (GRCm39) |
D926E |
probably damaging |
Het |
Fbxl8 |
C |
A |
8: 105,995,338 (GRCm39) |
N283K |
possibly damaging |
Het |
Fev |
T |
A |
1: 74,921,299 (GRCm39) |
Q122L |
probably benign |
Het |
Fgd4 |
T |
A |
16: 16,301,951 (GRCm39) |
|
probably null |
Het |
Fnip2 |
A |
C |
3: 79,396,610 (GRCm39) |
L439R |
probably damaging |
Het |
Git1 |
C |
A |
11: 77,395,469 (GRCm39) |
Q389K |
probably benign |
Het |
Gm10509 |
C |
G |
17: 21,909,833 (GRCm39) |
I53M |
possibly damaging |
Het |
Gm5773 |
A |
T |
3: 93,681,234 (GRCm39) |
H302L |
possibly damaging |
Het |
Greb1l |
G |
T |
18: 10,547,327 (GRCm39) |
R1515L |
probably damaging |
Het |
Gsc2 |
T |
C |
16: 17,732,902 (GRCm39) |
Y2C |
possibly damaging |
Het |
H60b |
A |
G |
10: 22,162,053 (GRCm39) |
N93D |
probably benign |
Het |
Hgf |
G |
A |
5: 16,820,752 (GRCm39) |
R633Q |
probably benign |
Het |
Hmgb1 |
C |
T |
5: 148,985,633 (GRCm39) |
|
probably benign |
Het |
Hmmr |
T |
C |
11: 40,598,242 (GRCm39) |
T657A |
probably damaging |
Het |
Htt |
G |
T |
5: 35,057,115 (GRCm39) |
|
probably null |
Het |
Ift80 |
G |
A |
3: 68,901,878 (GRCm39) |
|
probably benign |
Het |
Kcnq5 |
G |
T |
1: 21,576,017 (GRCm39) |
T229K |
probably damaging |
Het |
Kcp |
C |
T |
6: 29,482,839 (GRCm39) |
R1410Q |
probably benign |
Het |
Klhl30 |
T |
G |
1: 91,285,137 (GRCm39) |
V331G |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Lrrc37 |
G |
A |
11: 103,505,126 (GRCm39) |
P105S |
possibly damaging |
Het |
Macf1 |
C |
T |
4: 123,334,515 (GRCm39) |
R2849Q |
probably benign |
Het |
Mex3b |
T |
G |
7: 82,518,473 (GRCm39) |
S263A |
probably benign |
Het |
Mrgpre |
A |
G |
7: 143,334,799 (GRCm39) |
S235P |
probably damaging |
Het |
Myh14 |
A |
T |
7: 44,307,363 (GRCm39) |
V226D |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
Nudt8 |
G |
T |
19: 4,051,831 (GRCm39) |
L147F |
probably damaging |
Het |
Or2aj5 |
T |
A |
16: 19,424,672 (GRCm39) |
I249L |
probably benign |
Het |
Or52e8 |
T |
A |
7: 104,624,580 (GRCm39) |
N208I |
probably benign |
Het |
Or5w17 |
A |
G |
2: 87,584,071 (GRCm39) |
Y89H |
probably benign |
Het |
Or6z7 |
A |
T |
7: 6,484,008 (GRCm39) |
I49N |
probably benign |
Het |
P4htm |
C |
A |
9: 108,456,394 (GRCm39) |
A469S |
possibly damaging |
Het |
Pld4 |
A |
T |
12: 112,733,288 (GRCm39) |
H288L |
probably benign |
Het |
Pnpla1 |
T |
A |
17: 29,097,455 (GRCm39) |
I207N |
probably damaging |
Het |
Ppcs |
T |
G |
4: 119,279,375 (GRCm39) |
N59T |
probably damaging |
Het |
Ppm1k |
A |
T |
6: 57,492,645 (GRCm39) |
C214S |
probably damaging |
Het |
Psg25 |
C |
T |
7: 18,263,679 (GRCm39) |
G48E |
probably damaging |
Het |
Rassf7 |
A |
G |
7: 140,797,503 (GRCm39) |
T239A |
possibly damaging |
Het |
Rgs3 |
G |
T |
4: 62,618,952 (GRCm39) |
|
probably benign |
Het |
Scaper |
T |
C |
9: 55,767,055 (GRCm39) |
T465A |
probably benign |
Het |
Slc4a7 |
G |
T |
14: 14,746,021 (GRCm38) |
G405C |
probably damaging |
Het |
Smpd3 |
T |
C |
8: 106,991,851 (GRCm39) |
D234G |
probably benign |
Het |
Spata31f1e |
T |
C |
4: 42,793,323 (GRCm39) |
T270A |
probably damaging |
Het |
Ssc4d |
A |
G |
5: 135,991,775 (GRCm39) |
|
probably null |
Het |
Sugct |
G |
T |
13: 17,032,606 (GRCm39) |
|
probably null |
Het |
Taok2 |
C |
A |
7: 126,466,088 (GRCm39) |
|
probably null |
Het |
Tbx20 |
A |
G |
9: 24,681,036 (GRCm39) |
V152A |
probably damaging |
Het |
Tbx4 |
A |
G |
11: 85,781,085 (GRCm39) |
E66G |
probably benign |
Het |
Thbs2 |
T |
C |
17: 14,902,082 (GRCm39) |
E382G |
probably benign |
Het |
Ticrr |
T |
G |
7: 79,315,645 (GRCm39) |
S300A |
possibly damaging |
Het |
Trim46 |
A |
G |
3: 89,146,303 (GRCm39) |
L396P |
probably damaging |
Het |
Trim56 |
A |
G |
5: 137,141,501 (GRCm39) |
F672L |
probably damaging |
Het |
Ttf2 |
A |
G |
3: 100,858,453 (GRCm39) |
L712S |
probably damaging |
Het |
Unc93b1 |
T |
G |
19: 3,986,303 (GRCm39) |
D112E |
possibly damaging |
Het |
Usp17lc |
T |
C |
7: 103,068,118 (GRCm39) |
L471P |
probably benign |
Het |
Vmn2r85 |
A |
G |
10: 130,261,452 (GRCm39) |
I295T |
probably damaging |
Het |
Vmn2r96 |
T |
G |
17: 18,818,283 (GRCm39) |
I812S |
probably damaging |
Het |
Wdr7 |
G |
A |
18: 63,998,359 (GRCm39) |
C1102Y |
possibly damaging |
Het |
Wnt9b |
G |
T |
11: 103,624,515 (GRCm39) |
Q92K |
probably null |
Het |
Zbtb26 |
A |
T |
2: 37,326,106 (GRCm39) |
M310K |
possibly damaging |
Het |
Zdhhc1 |
T |
C |
8: 106,210,279 (GRCm39) |
H46R |
probably damaging |
Het |
Zfp628 |
G |
T |
7: 4,922,549 (GRCm39) |
R257L |
probably benign |
Het |
Zfp747l1 |
A |
T |
7: 126,983,487 (GRCm39) |
D538E |
possibly damaging |
Het |
Zmat4 |
A |
G |
8: 24,392,181 (GRCm39) |
T46A |
probably benign |
Het |
Zmiz2 |
T |
A |
11: 6,352,455 (GRCm39) |
W637R |
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 |
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 |
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'- GAGAAAGAGCATTGTGACCCAC -3'
Sequencing Primer
(F):5'- AGTGACTCATGTTTATGTACTCTTGC -3'
(R):5'- GAGCACTCCACATCAGTCTTGGAG -3'
|
Posted On |
2018-11-28 |