Incidental Mutation 'R6360:Cntnap5b'
| ID |
513045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap5b
|
| Ensembl Gene |
ENSMUSG00000067028 |
| Gene Name |
contactin associated protein-like 5B |
| Synonyms |
Caspr5-2, C230078M14Rik |
| MMRRC Submission |
044510-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R6360 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
99772765-100485942 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 100431736 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 695
(R695*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086738]
[ENSMUST00000188735]
|
| AlphaFold |
Q0V8T8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086738
AA Change: R1066*
|
| SMART Domains |
Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: R1066*
| 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 null
Transcript: ENSMUST00000188735
AA Change: R695*
|
| SMART Domains |
Protein: ENSMUSP00000139877
Gene: ENSMUSG00000067028
AA Change: R695*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
G |
A |
8: 77,259,202 (GRCm38) |
Q657* |
probably null |
Het |
| Car15 |
T |
C |
16: 17,838,066 (GRCm38) |
T560A |
probably benign |
Het |
| Cass4 |
C |
T |
2: 172,432,611 (GRCm38) |
H769Y |
probably damaging |
Het |
| Cdh6 |
A |
G |
15: 13,041,460 (GRCm38) |
I506T |
possibly damaging |
Het |
| Clstn3 |
G |
T |
6: 124,438,429 (GRCm38) |
R659S |
possibly damaging |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,597,455 (GRCm38) |
|
probably null |
Het |
| Dab2ip |
A |
G |
2: 35,710,266 (GRCm38) |
H355R |
probably benign |
Het |
| Dennd2a |
C |
T |
6: 39,493,142 (GRCm38) |
A539T |
probably benign |
Het |
| Dnajc18 |
T |
C |
18: 35,686,709 (GRCm38) |
E173G |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,969,662 (GRCm38) |
I1472V |
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,574,931 (GRCm38) |
F714I |
probably damaging |
Het |
| Fam107a |
T |
G |
14: 8,299,619 (GRCm38) |
H73P |
probably damaging |
Het |
| Fam46b |
T |
C |
4: 133,486,756 (GRCm38) |
F313L |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,290,601 (GRCm38) |
|
probably benign |
Het |
| Fyn |
C |
A |
10: 39,526,883 (GRCm38) |
T217K |
possibly damaging |
Het |
| Gbp9 |
T |
C |
5: 105,083,730 (GRCm38) |
D330G |
probably benign |
Het |
| Gin1 |
T |
C |
1: 97,792,539 (GRCm38) |
S509P |
possibly damaging |
Het |
| Gm15922 |
A |
T |
7: 3,736,504 (GRCm38) |
L455Q |
probably damaging |
Het |
| Gm17067 |
A |
C |
7: 42,708,482 (GRCm38) |
S199A |
probably benign |
Het |
| Grk4 |
A |
T |
5: 34,674,537 (GRCm38) |
K50M |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 81,902,852 (GRCm38) |
H272R |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 110,027,129 (GRCm38) |
L48Q |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,779,206 (GRCm38) |
I515T |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 25,861,180 (GRCm38) |
S190R |
possibly damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,173,270 (GRCm38) |
N336S |
probably benign |
Het |
| Lbr |
G |
T |
1: 181,832,155 (GRCm38) |
D158E |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,389,955 (GRCm38) |
Q89R |
probably benign |
Het |
| Nectin3 |
T |
A |
16: 46,411,109 (GRCm38) |
T21S |
probably benign |
Het |
| Numb |
C |
A |
12: 83,797,262 (GRCm38) |
R383L |
probably damaging |
Het |
| Olfr1370 |
A |
T |
13: 21,072,583 (GRCm38) |
N239K |
probably damaging |
Het |
| Olfr461 |
G |
T |
6: 40,544,713 (GRCm38) |
Q89K |
possibly damaging |
Het |
| Park2 |
T |
C |
17: 12,004,052 (GRCm38) |
F363S |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,422,159 (GRCm38) |
I181F |
probably benign |
Het |
| Pcgf2 |
T |
A |
11: 97,692,409 (GRCm38) |
|
probably null |
Het |
| Pdzd8 |
T |
C |
19: 59,300,983 (GRCm38) |
T662A |
probably benign |
Het |
| Pex13 |
A |
C |
11: 23,655,690 (GRCm38) |
V180G |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,214,747 (GRCm38) |
V22D |
probably benign |
Het |
| Ppp1r32 |
T |
C |
19: 10,479,481 (GRCm38) |
N167D |
probably damaging |
Het |
| Prpf4b |
A |
C |
13: 34,901,433 (GRCm38) |
D954A |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,680,965 (GRCm38) |
I317V |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,361,419 (GRCm38) |
S198P |
probably damaging |
Het |
| Rock1 |
A |
T |
18: 10,116,778 (GRCm38) |
C453S |
possibly damaging |
Het |
| Scarf1 |
G |
T |
11: 75,515,669 (GRCm38) |
G260W |
probably damaging |
Het |
| Scyl1 |
T |
C |
19: 5,760,571 (GRCm38) |
E538G |
probably damaging |
Het |
| Sec14l5 |
A |
T |
16: 5,172,995 (GRCm38) |
I267F |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 80,113,806 (GRCm38) |
V256D |
probably benign |
Het |
| Sf3b4 |
G |
A |
3: 96,176,728 (GRCm38) |
|
probably benign |
Het |
| Ssh1 |
T |
C |
5: 113,961,347 (GRCm38) |
|
probably null |
Het |
| Tas2r143 |
A |
C |
6: 42,400,835 (GRCm38) |
M200L |
probably benign |
Het |
| Tbc1d22a |
C |
T |
15: 86,214,629 (GRCm38) |
P19S |
probably damaging |
Het |
| Tmc5 |
T |
A |
7: 118,633,966 (GRCm38) |
M1K |
probably null |
Het |
| Tnc |
T |
C |
4: 64,000,733 (GRCm38) |
Y1151C |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,769,441 (GRCm38) |
E285G |
probably damaging |
Het |
| Txndc11 |
C |
T |
16: 11,084,792 (GRCm38) |
V664M |
probably damaging |
Het |
| Ube2g1 |
A |
T |
11: 72,663,082 (GRCm38) |
N20Y |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,265,476 (GRCm38) |
I369L |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,683,526 (GRCm38) |
T2666S |
probably benign |
Het |
| Yif1a |
A |
G |
19: 5,092,341 (GRCm38) |
M259V |
probably benign |
Het |
| Zbtb46 |
T |
C |
2: 181,391,455 (GRCm38) |
D471G |
probably damaging |
Het |
|
| Other mutations in Cntnap5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Cntnap5b
|
APN |
1 |
100,050,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00477:Cntnap5b
|
APN |
1 |
100,213,743 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL00505:Cntnap5b
|
APN |
1 |
100,379,161 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL00596:Cntnap5b
|
APN |
1 |
100,379,161 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL00846:Cntnap5b
|
APN |
1 |
100,164,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00895:Cntnap5b
|
APN |
1 |
100,383,585 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL00948:Cntnap5b
|
APN |
1 |
100,141,357 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01073:Cntnap5b
|
APN |
1 |
100,076,030 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL01523:Cntnap5b
|
APN |
1 |
100,431,779 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01779:Cntnap5b
|
APN |
1 |
99,967,339 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02253:Cntnap5b
|
APN |
1 |
100,164,211 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL02628:Cntnap5b
|
APN |
1 |
100,072,069 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0166:Cntnap5b
|
UTSW |
1 |
100,274,361 (GRCm38) |
missense |
probably benign |
0.41 |
|
R0211:Cntnap5b
|
UTSW |
1 |
100,478,374 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0281:Cntnap5b
|
UTSW |
1 |
100,072,153 (GRCm38) |
missense |
probably benign |
0.22 |
|
R0363:Cntnap5b
|
UTSW |
1 |
100,274,468 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0514:Cntnap5b
|
UTSW |
1 |
99,772,786 (GRCm38) |
missense |
probably benign |
|
|
R0645:Cntnap5b
|
UTSW |
1 |
100,072,042 (GRCm38) |
splice site |
probably benign |
|
|
R0848:Cntnap5b
|
UTSW |
1 |
100,255,163 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1006:Cntnap5b
|
UTSW |
1 |
100,383,617 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1349:Cntnap5b
|
UTSW |
1 |
100,164,088 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1372:Cntnap5b
|
UTSW |
1 |
100,164,088 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1474:Cntnap5b
|
UTSW |
1 |
100,072,089 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1681:Cntnap5b
|
UTSW |
1 |
100,076,107 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1727:Cntnap5b
|
UTSW |
1 |
100,213,744 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1760:Cntnap5b
|
UTSW |
1 |
99,772,810 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1777:Cntnap5b
|
UTSW |
1 |
100,370,078 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1939:Cntnap5b
|
UTSW |
1 |
99,967,348 (GRCm38) |
missense |
probably benign |
|
|
R1988:Cntnap5b
|
UTSW |
1 |
100,072,140 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2069:Cntnap5b
|
UTSW |
1 |
100,358,725 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2113:Cntnap5b
|
UTSW |
1 |
100,274,415 (GRCm38) |
missense |
probably benign |
|
|
R2148:Cntnap5b
|
UTSW |
1 |
100,383,474 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2158:Cntnap5b
|
UTSW |
1 |
100,390,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2223:Cntnap5b
|
UTSW |
1 |
100,213,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2350:Cntnap5b
|
UTSW |
1 |
100,379,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3840:Cntnap5b
|
UTSW |
1 |
100,383,477 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R4329:Cntnap5b
|
UTSW |
1 |
100,072,163 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4609:Cntnap5b
|
UTSW |
1 |
99,772,847 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4799:Cntnap5b
|
UTSW |
1 |
100,358,725 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5129:Cntnap5b
|
UTSW |
1 |
100,379,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5323:Cntnap5b
|
UTSW |
1 |
100,383,550 (GRCm38) |
nonsense |
probably null |
|
|
R5434:Cntnap5b
|
UTSW |
1 |
100,072,201 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5579:Cntnap5b
|
UTSW |
1 |
100,383,395 (GRCm38) |
nonsense |
probably null |
|
|
R5579:Cntnap5b
|
UTSW |
1 |
100,383,399 (GRCm38) |
missense |
probably benign |
0.27 |
|
R5630:Cntnap5b
|
UTSW |
1 |
100,072,069 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5644:Cntnap5b
|
UTSW |
1 |
100,383,601 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5761:Cntnap5b
|
UTSW |
1 |
100,446,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6042:Cntnap5b
|
UTSW |
1 |
100,390,592 (GRCm38) |
missense |
probably benign |
|
|
R6147:Cntnap5b
|
UTSW |
1 |
100,050,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6190:Cntnap5b
|
UTSW |
1 |
100,379,075 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R6248:Cntnap5b
|
UTSW |
1 |
100,072,102 (GRCm38) |
missense |
probably benign |
0.30 |
|
R6286:Cntnap5b
|
UTSW |
1 |
100,255,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6306:Cntnap5b
|
UTSW |
1 |
100,164,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6336:Cntnap5b
|
UTSW |
1 |
100,358,669 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6722:Cntnap5b
|
UTSW |
1 |
100,478,486 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6750:Cntnap5b
|
UTSW |
1 |
100,274,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6806:Cntnap5b
|
UTSW |
1 |
99,940,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6933:Cntnap5b
|
UTSW |
1 |
100,383,450 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6957:Cntnap5b
|
UTSW |
1 |
100,274,472 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6958:Cntnap5b
|
UTSW |
1 |
100,274,472 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6959:Cntnap5b
|
UTSW |
1 |
100,274,472 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6961:Cntnap5b
|
UTSW |
1 |
100,274,472 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6962:Cntnap5b
|
UTSW |
1 |
100,274,472 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7088:Cntnap5b
|
UTSW |
1 |
100,160,077 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7146:Cntnap5b
|
UTSW |
1 |
100,050,794 (GRCm38) |
splice site |
probably null |
|
|
R7165:Cntnap5b
|
UTSW |
1 |
100,076,162 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7190:Cntnap5b
|
UTSW |
1 |
100,431,849 (GRCm38) |
splice site |
probably null |
|
|
R7376:Cntnap5b
|
UTSW |
1 |
99,967,269 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7385:Cntnap5b
|
UTSW |
1 |
100,379,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8053:Cntnap5b
|
UTSW |
1 |
100,390,677 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8080:Cntnap5b
|
UTSW |
1 |
100,072,203 (GRCm38) |
missense |
probably benign |
0.16 |
|
R8082:Cntnap5b
|
UTSW |
1 |
100,379,216 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8271:Cntnap5b
|
UTSW |
1 |
100,072,107 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8303:Cntnap5b
|
UTSW |
1 |
100,141,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8428:Cntnap5b
|
UTSW |
1 |
100,383,585 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9131:Cntnap5b
|
UTSW |
1 |
100,050,643 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9144:Cntnap5b
|
UTSW |
1 |
100,050,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9522:Cntnap5b
|
UTSW |
1 |
100,484,622 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9611:Cntnap5b
|
UTSW |
1 |
99,967,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF007:Cntnap5b
|
UTSW |
1 |
100,164,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0020:Cntnap5b
|
UTSW |
1 |
100,431,848 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1176:Cntnap5b
|
UTSW |
1 |
100,446,840 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1176:Cntnap5b
|
UTSW |
1 |
100,164,228 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
Z1176:Cntnap5b
|
UTSW |
1 |
99,967,270 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Cntnap5b
|
UTSW |
1 |
100,050,706 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTACACCATTGCACTCTTC -3'
(R):5'- ATAAGGAGGATCATTGCAGTATGTG -3'
Sequencing Primer
(F):5'- ACACCATTGCACTCTTCTTAAACTAG -3'
(R):5'- GTGGAGCTCAGATATGTTAGATAAAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation