Incidental Mutation 'R5761:Cntnap5b'
| ID |
445273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap5b
|
| Ensembl Gene |
ENSMUSG00000067028 |
| Gene Name |
contactin associated protein-like 5B |
| Synonyms |
C230078M14Rik, Caspr5-2 |
| MMRRC Submission |
043363-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R5761 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
99700490-100413667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100374619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1123
(S1123P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086738]
[ENSMUST00000188735]
|
| AlphaFold |
Q0V8T8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086738
AA Change: S1123P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: S1123P
| 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: S752P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139877
Gene: ENSMUSG00000067028
AA Change: S752P
| 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 |
|
| Meta Mutation Damage Score |
0.5244 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,100,927 (GRCm39) |
V953D |
probably damaging |
Het |
| Abcb8 |
T |
C |
5: 24,610,879 (GRCm39) |
|
probably benign |
Het |
| Acad12 |
A |
T |
5: 121,742,243 (GRCm39) |
|
probably benign |
Het |
| Adam2 |
A |
T |
14: 66,283,595 (GRCm39) |
C436S |
probably damaging |
Het |
| Aebp2 |
T |
C |
6: 140,569,943 (GRCm39) |
|
probably benign |
Het |
| Akap8 |
A |
T |
17: 32,536,159 (GRCm39) |
C85S |
possibly damaging |
Het |
| Aldh1a3 |
C |
A |
7: 66,068,927 (GRCm39) |
R19L |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,955,559 (GRCm39) |
T848A |
possibly damaging |
Het |
| Bud13 |
C |
T |
9: 46,199,350 (GRCm39) |
A237V |
probably benign |
Het |
| Cbarp |
CGCCTCTGCTGCCTCT |
CGCCTCT |
10: 79,968,067 (GRCm39) |
|
probably benign |
Het |
| Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
| Ccz1 |
C |
T |
5: 143,929,328 (GRCm39) |
G367R |
probably damaging |
Het |
| Cep104 |
T |
C |
4: 154,065,681 (GRCm39) |
V56A |
possibly damaging |
Het |
| Chd6 |
C |
A |
2: 160,798,998 (GRCm39) |
R2362S |
probably damaging |
Het |
| Chd6 |
C |
T |
2: 160,798,999 (GRCm39) |
R2362K |
probably damaging |
Het |
| Cmc1 |
T |
C |
9: 117,944,443 (GRCm39) |
E25G |
probably benign |
Het |
| Col4a3 |
T |
A |
1: 82,693,778 (GRCm39) |
L66* |
probably null |
Het |
| Crmp1 |
A |
G |
5: 37,440,212 (GRCm39) |
T329A |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp3a16 |
A |
G |
5: 145,378,843 (GRCm39) |
S393P |
possibly damaging |
Het |
| Cyp4f18 |
T |
A |
8: 72,749,975 (GRCm39) |
I225F |
probably damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,231,726 (GRCm39) |
V432A |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,853,131 (GRCm39) |
I401M |
probably damaging |
Het |
| Foxq1 |
G |
A |
13: 31,743,314 (GRCm39) |
A139T |
probably damaging |
Het |
| Gm10428 |
G |
T |
11: 62,644,169 (GRCm39) |
|
probably benign |
Het |
| Gpr89 |
A |
G |
3: 96,800,196 (GRCm39) |
L134P |
probably damaging |
Het |
| Hjv |
T |
C |
3: 96,435,938 (GRCm39) |
S399P |
probably benign |
Het |
| Hrc |
A |
T |
7: 44,986,025 (GRCm39) |
|
probably null |
Het |
| Igf1r |
T |
A |
7: 67,857,001 (GRCm39) |
Y988N |
probably damaging |
Het |
| Igf2r |
A |
C |
17: 12,917,239 (GRCm39) |
|
probably null |
Het |
| Itga2b |
A |
G |
11: 102,357,100 (GRCm39) |
F260S |
probably benign |
Het |
| Kif2a |
T |
A |
13: 107,098,672 (GRCm39) |
N698I |
probably benign |
Het |
| Lap3 |
A |
C |
5: 45,662,147 (GRCm39) |
I316L |
probably benign |
Het |
| Map2k6 |
T |
G |
11: 110,290,197 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
T |
A |
13: 113,054,196 (GRCm39) |
I146F |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,110,078 (GRCm39) |
E1422G |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,250,061 (GRCm39) |
V1081A |
probably benign |
Het |
| Nom1 |
A |
G |
5: 29,642,639 (GRCm39) |
E380G |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,882,573 (GRCm39) |
Y75F |
probably damaging |
Het |
| Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
| Or51a24 |
G |
A |
7: 103,733,376 (GRCm39) |
R304W |
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,866,301 (GRCm39) |
V518A |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,981,279 (GRCm39) |
M521V |
probably benign |
Het |
| Qsox1 |
T |
A |
1: 155,655,274 (GRCm39) |
M630L |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,648,032 (GRCm39) |
L299P |
probably damaging |
Het |
| St6gal1 |
T |
G |
16: 23,139,805 (GRCm39) |
|
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 13,984,283 (GRCm39) |
Y149C |
probably damaging |
Het |
| Tlr3 |
G |
A |
8: 45,855,808 (GRCm39) |
T124M |
probably benign |
Het |
| Tmem171 |
A |
G |
13: 98,829,019 (GRCm39) |
Y44H |
probably damaging |
Het |
| Usp35 |
C |
T |
7: 96,961,558 (GRCm39) |
V623I |
probably benign |
Het |
| Vangl2 |
T |
A |
1: 171,833,694 (GRCm39) |
H463L |
probably damaging |
Het |
| Vmn1r175 |
A |
C |
7: 23,507,905 (GRCm39) |
L241V |
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,338 (GRCm39) |
K297I |
unknown |
Het |
| Vmn2r23 |
C |
A |
6: 123,689,718 (GRCm39) |
T198K |
probably benign |
Het |
| Vmn2r-ps69 |
T |
A |
7: 84,953,223 (GRCm39) |
|
noncoding transcript |
Het |
| Xirp2 |
A |
G |
2: 67,341,311 (GRCm39) |
Y1184C |
probably benign |
Het |
| Ythdc1 |
A |
G |
5: 86,983,810 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
C |
T |
10: 127,578,515 (GRCm39) |
A363V |
probably damaging |
Het |
| Zmiz1 |
T |
A |
14: 25,651,728 (GRCm39) |
I527K |
possibly damaging |
Het |
| Zmiz1 |
C |
A |
14: 25,651,730 (GRCm39) |
P534T |
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 |
|
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'- TGGATACTAAAGCACACAGGATTG -3'
(R):5'- TCTGCTTCATTGGCACATGTG -3'
Sequencing Primer
(F):5'- TACTAAAGCACACAGGATTGAAAAC -3'
(R):5'- CAGAGGTGACAAATTCCTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation