Incidental Mutation 'R1988:Cntnap5b'
| ID |
222769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap5b
|
| Ensembl Gene |
ENSMUSG00000067028 |
| Gene Name |
contactin associated protein-like 5B |
| Synonyms |
C230078M14Rik, Caspr5-2 |
| MMRRC Submission |
040000-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R1988 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
99700490-100413667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 99999865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 208
(K208Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086738]
|
| AlphaFold |
Q0V8T8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086738
AA Change: K208Q
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: K208Q
| 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 |
|
| Meta Mutation Damage Score |
0.0946 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
96% (79/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,854,394 (GRCm39) |
D216V |
possibly damaging |
Het |
| 2610021A01Rik |
C |
T |
7: 41,276,081 (GRCm39) |
R595* |
probably null |
Het |
| Adgrl3 |
A |
G |
5: 81,836,414 (GRCm39) |
D724G |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,187,578 (GRCm39) |
F1664S |
possibly damaging |
Het |
| Akt1 |
T |
C |
12: 112,621,585 (GRCm39) |
I404V |
probably benign |
Het |
| Anxa13 |
T |
A |
15: 58,205,344 (GRCm39) |
|
noncoding transcript |
Het |
| Atoh1 |
T |
C |
6: 64,706,617 (GRCm39) |
V104A |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,822,437 (GRCm39) |
D1256G |
probably damaging |
Het |
| C9 |
ATTTT |
ATTT |
15: 6,512,619 (GRCm39) |
|
probably null |
Het |
| Cd164 |
A |
G |
10: 41,399,177 (GRCm39) |
T89A |
probably benign |
Het |
| Cep350 |
G |
C |
1: 155,808,850 (GRCm39) |
N575K |
possibly damaging |
Het |
| Chrm5 |
A |
G |
2: 112,310,597 (GRCm39) |
V173A |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,468,572 (GRCm39) |
V1417A |
possibly damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,906,204 (GRCm39) |
T801A |
probably damaging |
Het |
| Crx |
A |
T |
7: 15,603,272 (GRCm39) |
V107D |
possibly damaging |
Het |
| Csrnp2 |
A |
G |
15: 100,387,321 (GRCm39) |
F49S |
probably damaging |
Het |
| Ctbp1 |
A |
G |
5: 33,408,248 (GRCm39) |
L228P |
possibly damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,492,616 (GRCm39) |
D626E |
possibly damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,569 (GRCm39) |
T82A |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,566,793 (GRCm39) |
T2478S |
possibly damaging |
Het |
| Dnah3 |
T |
G |
7: 119,567,182 (GRCm39) |
D2348A |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,343,737 (GRCm39) |
I2379T |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,069,175 (GRCm39) |
I2504T |
probably damaging |
Het |
| Dnase1l2 |
A |
C |
17: 24,660,625 (GRCm39) |
W138G |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,563,061 (GRCm39) |
I855N |
probably damaging |
Het |
| Dsc3 |
T |
A |
18: 20,098,903 (GRCm39) |
N759Y |
possibly damaging |
Het |
| Dtx2 |
C |
T |
5: 136,061,147 (GRCm39) |
R510* |
probably null |
Het |
| Fat4 |
G |
T |
3: 38,941,264 (GRCm39) |
M52I |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,050,239 (GRCm39) |
E4034K |
probably damaging |
Het |
| Fezf2 |
T |
C |
14: 12,344,350 (GRCm38) |
K279R |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,806,861 (GRCm39) |
W1060L |
possibly damaging |
Het |
| G6pc1 |
T |
A |
11: 101,258,768 (GRCm39) |
I49N |
probably damaging |
Het |
| Gars1 |
A |
G |
6: 55,054,757 (GRCm39) |
E688G |
probably null |
Het |
| Gdf11 |
T |
C |
10: 128,721,111 (GRCm39) |
N361S |
probably benign |
Het |
| Gli3 |
A |
C |
13: 15,900,965 (GRCm39) |
M1451L |
probably benign |
Het |
| Heatr3 |
T |
C |
8: 88,876,945 (GRCm39) |
I329T |
probably benign |
Het |
| Herc3 |
T |
G |
6: 58,861,960 (GRCm39) |
|
probably null |
Het |
| Hrnr |
A |
G |
3: 93,239,911 (GRCm39) |
N3383S |
unknown |
Het |
| Igsf3 |
A |
T |
3: 101,338,612 (GRCm39) |
I309F |
probably benign |
Het |
| Kif21b |
C |
T |
1: 136,080,002 (GRCm39) |
R513W |
probably damaging |
Het |
| Kif7 |
G |
T |
7: 79,348,989 (GRCm39) |
H1195Q |
probably benign |
Het |
| Lpcat4 |
T |
C |
2: 112,072,887 (GRCm39) |
V182A |
possibly damaging |
Het |
| Map3k21 |
T |
A |
8: 126,654,294 (GRCm39) |
I371N |
probably benign |
Het |
| Mns1 |
G |
A |
9: 72,356,041 (GRCm39) |
|
probably null |
Het |
| Myo3a |
A |
G |
2: 22,468,140 (GRCm39) |
T465A |
possibly damaging |
Het |
| Nlrc4 |
A |
T |
17: 74,733,938 (GRCm39) |
S992T |
probably benign |
Het |
| Notch4 |
G |
A |
17: 34,806,562 (GRCm39) |
G1833E |
possibly damaging |
Het |
| Or52ad1 |
T |
A |
7: 102,995,316 (GRCm39) |
Y273F |
possibly damaging |
Het |
| Or52n2 |
T |
C |
7: 104,542,110 (GRCm39) |
T242A |
probably damaging |
Het |
| Or5g29 |
G |
A |
2: 85,420,985 (GRCm39) |
V34I |
probably benign |
Het |
| Or5p5 |
A |
T |
7: 107,413,907 (GRCm39) |
I39L |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,993 (GRCm39) |
I194K |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Pik3cd |
T |
A |
4: 149,747,660 (GRCm39) |
T28S |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,795,566 (GRCm39) |
|
probably null |
Het |
| Plk4 |
A |
T |
3: 40,760,252 (GRCm39) |
S383C |
possibly damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,297 (GRCm39) |
L77P |
probably damaging |
Het |
| Ppm1f |
T |
C |
16: 16,741,530 (GRCm39) |
S335P |
probably damaging |
Het |
| Prr16 |
C |
T |
18: 51,436,349 (GRCm39) |
P276L |
probably damaging |
Het |
| Rilp |
A |
G |
11: 75,401,759 (GRCm39) |
|
probably null |
Het |
| Rspry1 |
A |
G |
8: 95,358,682 (GRCm39) |
|
probably null |
Het |
| Serpinb9b |
T |
C |
13: 33,213,542 (GRCm39) |
V33A |
probably benign |
Het |
| Slc4a10 |
C |
A |
2: 62,098,548 (GRCm39) |
Q561K |
probably damaging |
Het |
| Smyd5 |
T |
C |
6: 85,415,118 (GRCm39) |
I42T |
possibly damaging |
Het |
| Stk17b |
T |
C |
1: 53,800,241 (GRCm39) |
N246D |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,646,380 (GRCm39) |
|
probably null |
Het |
| Tecpr1 |
C |
T |
5: 144,141,515 (GRCm39) |
V785M |
possibly damaging |
Het |
| Telo2 |
C |
T |
17: 25,320,642 (GRCm39) |
V756I |
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,943,034 (GRCm39) |
R602H |
probably benign |
Het |
| Timeless |
A |
G |
10: 128,080,056 (GRCm39) |
T402A |
probably damaging |
Het |
| Tnfaip2 |
T |
A |
12: 111,416,325 (GRCm39) |
|
probably null |
Het |
| Trgc3 |
C |
A |
13: 19,445,164 (GRCm39) |
F37L |
probably damaging |
Het |
| Trim5 |
A |
G |
7: 103,914,828 (GRCm39) |
S414P |
probably damaging |
Het |
| Txnip |
A |
G |
3: 96,467,066 (GRCm39) |
T247A |
possibly damaging |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,050 (GRCm39) |
T239S |
probably damaging |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,212 (GRCm39) |
E234D |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,887,480 (GRCm39) |
N982K |
probably benign |
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 |
|
|
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 |
100,311,124 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5579:Cntnap5b
|
UTSW |
1 |
100,311,120 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- TGTGCTGCCTACAAATGATTGATTC -3'
(R):5'- ATGAGATTTACCTCTGGCTTCAAC -3'
Sequencing Primer
(F):5'- CCTGTGAATTGAGCAGCATC -3'
(R):5'- CCTCTGGCTTCAACAGTCATATAAAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation