Incidental Mutation 'R0848:Cntnap5b'
ID |
77396 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap5b
|
Ensembl Gene |
ENSMUSG00000067028 |
Gene Name |
contactin associated protein-like 5B |
Synonyms |
C230078M14Rik, Caspr5-2 |
MMRRC Submission |
039027-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R0848 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
99700490-100413667 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100182888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 620
(Y620H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086738]
[ENSMUST00000188735]
|
AlphaFold |
Q0V8T8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086738
AA Change: Y620H
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000083944 Gene: ENSMUSG00000067028 AA Change: Y620H
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: ENSMUST00000157258
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185484
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188735
AA Change: Y306H
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139877 Gene: ENSMUSG00000067028 AA Change: Y306H
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: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,114,984 (GRCm39) |
H181Q |
probably damaging |
Het |
Abca13 |
T |
A |
11: 9,632,011 (GRCm39) |
L4977* |
probably null |
Het |
Abca8a |
T |
A |
11: 109,919,016 (GRCm39) |
Y1550F |
probably damaging |
Het |
Actr2 |
C |
T |
11: 20,022,584 (GRCm39) |
E296K |
probably benign |
Het |
Agtpbp1 |
A |
T |
13: 59,681,753 (GRCm39) |
|
probably benign |
Het |
Anks1b |
A |
C |
10: 89,906,987 (GRCm39) |
E268A |
probably damaging |
Het |
C1rl |
A |
G |
6: 124,485,465 (GRCm39) |
T279A |
probably benign |
Het |
C5ar2 |
T |
C |
7: 15,971,526 (GRCm39) |
T134A |
probably benign |
Het |
Cdkl3 |
G |
A |
11: 51,902,094 (GRCm39) |
R101Q |
probably damaging |
Het |
Celsr2 |
A |
T |
3: 108,321,654 (GRCm39) |
F386Y |
probably benign |
Het |
Chd1 |
C |
T |
17: 15,990,503 (GRCm39) |
P1685L |
probably damaging |
Het |
Chrne |
G |
T |
11: 70,506,239 (GRCm39) |
H402Q |
probably benign |
Het |
Clvs1 |
A |
G |
4: 9,282,003 (GRCm39) |
D149G |
possibly damaging |
Het |
Col6a1 |
A |
G |
10: 76,549,458 (GRCm39) |
|
probably null |
Het |
Cyp2d26 |
T |
A |
15: 82,674,434 (GRCm39) |
I483F |
probably benign |
Het |
Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
Dmac2l |
A |
T |
12: 69,788,584 (GRCm39) |
H161L |
probably benign |
Het |
Eif1a |
T |
A |
18: 46,741,114 (GRCm39) |
N116K |
possibly damaging |
Het |
Epb41l5 |
A |
T |
1: 119,477,684 (GRCm39) |
C696S |
probably benign |
Het |
Exoc7 |
A |
G |
11: 116,186,074 (GRCm39) |
S376P |
possibly damaging |
Het |
Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gimap7 |
T |
C |
6: 48,700,657 (GRCm39) |
I81T |
probably damaging |
Het |
Gtf2a1l |
T |
C |
17: 89,001,657 (GRCm39) |
V171A |
probably damaging |
Het |
Hax1 |
A |
G |
3: 89,902,940 (GRCm39) |
S253P |
probably damaging |
Het |
Hsd3b5 |
A |
T |
3: 98,526,671 (GRCm39) |
D258E |
probably damaging |
Het |
Kcnb1 |
G |
T |
2: 166,948,187 (GRCm39) |
F220L |
probably damaging |
Het |
Kif1a |
T |
A |
1: 92,947,620 (GRCm39) |
Y1708F |
probably damaging |
Het |
Krt14 |
A |
T |
11: 100,095,090 (GRCm39) |
I379N |
probably damaging |
Het |
Lpxn |
A |
G |
19: 12,781,401 (GRCm39) |
I40V |
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,389,231 (GRCm39) |
|
probably null |
Het |
Lyst |
G |
A |
13: 13,809,515 (GRCm39) |
R395H |
probably benign |
Het |
Mindy4 |
G |
A |
6: 55,295,271 (GRCm39) |
W737* |
probably null |
Het |
Mki67 |
C |
A |
7: 135,302,772 (GRCm39) |
R754L |
probably benign |
Het |
Morf4l1 |
A |
G |
9: 89,982,502 (GRCm39) |
V144A |
probably benign |
Het |
Mvb12a |
T |
C |
8: 71,998,422 (GRCm39) |
S186P |
probably benign |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Nipal1 |
A |
G |
5: 72,825,183 (GRCm39) |
N292S |
probably damaging |
Het |
Nqo2 |
T |
G |
13: 34,156,461 (GRCm39) |
|
probably null |
Het |
Or14a256 |
T |
C |
7: 86,264,848 (GRCm39) |
Y335C |
probably damaging |
Het |
Or2d3b |
A |
G |
7: 106,514,200 (GRCm39) |
K265R |
probably benign |
Het |
Or5ak24 |
A |
T |
2: 85,260,365 (GRCm39) |
N269K |
probably benign |
Het |
Or6c214 |
C |
T |
10: 129,591,077 (GRCm39) |
V81I |
probably benign |
Het |
Osbpl7 |
C |
A |
11: 96,951,350 (GRCm39) |
P507Q |
probably damaging |
Het |
Pcdhb1 |
G |
A |
18: 37,400,475 (GRCm39) |
G809S |
probably benign |
Het |
Pcm1 |
T |
C |
8: 41,735,720 (GRCm39) |
V846A |
probably damaging |
Het |
Phf3 |
A |
G |
1: 30,902,253 (GRCm39) |
L20P |
probably damaging |
Het |
Pih1d1 |
A |
G |
7: 44,807,041 (GRCm39) |
T58A |
probably damaging |
Het |
Plekhn1 |
A |
G |
4: 156,308,021 (GRCm39) |
|
probably null |
Het |
Plvap |
A |
T |
8: 71,959,526 (GRCm39) |
L422Q |
probably damaging |
Het |
Polq |
C |
T |
16: 36,882,492 (GRCm39) |
A1273V |
probably benign |
Het |
Prelid2 |
T |
A |
18: 42,068,289 (GRCm39) |
I51F |
probably damaging |
Het |
Ptpn18 |
G |
A |
1: 34,501,783 (GRCm39) |
D8N |
probably damaging |
Het |
Ptpra |
T |
A |
2: 130,360,911 (GRCm39) |
F190Y |
probably damaging |
Het |
Pus7l |
A |
G |
15: 94,438,393 (GRCm39) |
S151P |
probably benign |
Het |
Rsph6a |
G |
A |
7: 18,791,595 (GRCm39) |
D255N |
probably benign |
Het |
Serpinb6c |
A |
T |
13: 34,083,288 (GRCm39) |
V42D |
probably damaging |
Het |
Slc7a13 |
A |
G |
4: 19,818,866 (GRCm39) |
N22S |
probably benign |
Het |
Snx5 |
G |
A |
2: 144,095,726 (GRCm39) |
R312C |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,526,304 (GRCm39) |
S854P |
probably damaging |
Het |
Syne2 |
AAGAG |
AAGAGAGAG |
12: 76,144,733 (GRCm39) |
|
probably null |
Het |
Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
Tlr12 |
A |
G |
4: 128,510,084 (GRCm39) |
I722T |
probably benign |
Het |
Tmem101 |
A |
T |
11: 102,046,692 (GRCm39) |
M59K |
possibly damaging |
Het |
Trim34a |
C |
T |
7: 103,910,331 (GRCm39) |
R378C |
probably benign |
Het |
Trim35 |
T |
A |
14: 66,546,574 (GRCm39) |
M447K |
probably benign |
Het |
Trps1 |
C |
A |
15: 50,524,945 (GRCm39) |
S704I |
possibly damaging |
Het |
Vmn1r231 |
T |
A |
17: 21,110,433 (GRCm39) |
S161C |
probably damaging |
Het |
Vps13a |
A |
C |
19: 16,676,261 (GRCm39) |
N1237K |
probably damaging |
Het |
Zfp619 |
G |
T |
7: 39,185,983 (GRCm39) |
C671F |
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 |
|
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 |
100,311,124 (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'- GCCTATGTGTGAACAACTGACTCCTG -3'
(R):5'- GGACTTTCCACTTGCTTTGATGCCTT -3'
Sequencing Primer
(F):5'- TGCAGGGGAATATTGAGAATCAAG -3'
(R):5'- agaaatggaagtggatgggtaag -3'
|
Posted On |
2013-10-16 |