Mutagenetix > Incidental Mutation

Incidental Mutation 'R5323:Cntnap5b'

404940

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5b

Ensembl Gene

ENSMUSG00000067028

Gene Name

contactin associated protein-like 5B

Synonyms

C230078M14Rik, Caspr5-2

MMRRC Submission

042906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R5323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99700490-100413667 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 100311275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 589 (C589*)

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: C960*

SMART Domains

Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: C960*

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: C589*

SMART Domains

Protein: ENSMUSP00000139877
Gene: ENSMUSG00000067028
AA Change: C589*

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: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	A	7: 82,206,269 (GRCm39)	C784S	probably damaging	Het
Ahnak2	A	T	12: 112,745,989 (GRCm39)		probably benign	Het
Apon	A	G	10: 128,090,907 (GRCm39)	E195G	probably damaging	Het
Atxn10	A	G	15: 85,275,944 (GRCm39)	I334V	probably benign	Het
Camsap1	G	T	2: 25,855,823 (GRCm39)	A145E	probably damaging	Het
Capns1	G	T	7: 29,887,147 (GRCm39)	F243L	possibly damaging	Het
Catsper2	A	T	2: 121,237,216 (GRCm39)	I228N	probably damaging	Het
Ceacam14	A	T	7: 17,549,402 (GRCm39)	*264C	probably null	Het
Cel	A	C	2: 28,450,530 (GRCm39)	V165G	probably damaging	Het
Cldnd1	T	A	16: 58,550,016 (GRCm39)	D66E	possibly damaging	Het
Dnah3	T	A	7: 119,620,234 (GRCm39)	H1554L	probably damaging	Het
Fbxw25	T	A	9: 109,492,573 (GRCm39)	M55L	probably benign	Het
Fn1	T	C	1: 71,636,591 (GRCm39)	H2187R	probably benign	Het
Fsip2	A	G	2: 82,818,489 (GRCm39)	T4741A	possibly damaging	Het
Gabpa	T	A	16: 84,653,934 (GRCm39)	I272N	possibly damaging	Het
Ganab	T	C	19: 8,886,049 (GRCm39)	S212P	probably benign	Het
Ggt1	A	G	10: 75,421,495 (GRCm39)		probably null	Het
Hpgds	T	C	6: 65,109,169 (GRCm39)	T81A	probably benign	Het
Insr	G	A	8: 3,252,902 (GRCm39)	T419I	probably benign	Het
Itgb7	A	G	15: 102,140,059 (GRCm39)		probably benign	Het
Kcnt1	A	G	2: 25,799,289 (GRCm39)	I951V	possibly damaging	Het
Lrrc4c	T	A	2: 97,460,498 (GRCm39)	C375S	probably damaging	Het
Muc17	G	T	5: 137,175,537 (GRCm39)	C44*	probably null	Het
Mycbpap	A	T	11: 94,394,330 (GRCm39)	D313E	probably benign	Het
Neo1	A	G	9: 58,813,931 (GRCm39)		probably null	Het
Ntsr2	C	T	12: 16,709,934 (GRCm39)	S405F	probably benign	Het
Nup153	G	A	13: 46,870,682 (GRCm39)	P21S	probably benign	Het
Obscn	T	A	11: 58,887,703 (GRCm39)	E7705D	probably benign	Het
Ogn	A	G	13: 49,762,817 (GRCm39)	D53G	probably benign	Het
Or10d5j	A	T	9: 39,868,125 (GRCm39)	Y35*	probably null	Het
Or14j10	A	T	17: 37,935,046 (GRCm39)	I160K	probably benign	Het
Or5k8	G	A	16: 58,645,066 (GRCm39)	T2I	probably benign	Het
Or5p5	T	C	7: 107,413,883 (GRCm39)	F33L	possibly damaging	Het
Or9i1b	A	T	19: 13,896,980 (GRCm39)	I199F	possibly damaging	Het
Pde6a	G	A	18: 61,365,983 (GRCm39)	R236H	possibly damaging	Het
Pigk	T	A	3: 152,443,837 (GRCm39)	M85K	probably damaging	Het
Pirb	A	C	7: 3,719,598 (GRCm39)	I516S	possibly damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Pum2	T	A	12: 8,794,706 (GRCm39)	I737N	probably damaging	Het
Recql5	A	T	11: 115,818,215 (GRCm39)	C159S	probably damaging	Het
Rxrg	A	G	1: 167,452,573 (GRCm39)	N125S	probably benign	Het
Sgip1	C	A	4: 102,823,477 (GRCm39)	N699K	probably damaging	Het
Shprh	G	A	10: 11,046,041 (GRCm39)		probably null	Het
Smcp	C	T	3: 92,491,454 (GRCm39)	G131D	unknown	Het
St8sia6	A	G	2: 13,798,188 (GRCm39)	L23P	possibly damaging	Het
Stk32c	T	A	7: 138,699,276 (GRCm39)	T335S	probably benign	Het
Stox1	G	A	10: 62,499,812 (GRCm39)	A916V	possibly damaging	Het
Syk	A	T	13: 52,785,753 (GRCm39)	T297S	probably benign	Het
Tert	G	T	13: 73,796,490 (GRCm39)	A1074S	probably benign	Het
Tex9	A	T	9: 72,385,187 (GRCm39)	D135E	probably damaging	Het
Tmem132a	G	A	19: 10,841,371 (GRCm39)	H318Y	possibly damaging	Het
Ttn	A	G	2: 76,738,249 (GRCm39)	S4097P	probably benign	Het
Ush2a	A	T	1: 188,553,874 (GRCm39)		probably null	Het
Usp36	A	T	11: 118,156,020 (GRCm39)	S586T	probably benign	Het
Vsig8	A	G	1: 172,388,244 (GRCm39)	S71G	probably benign	Het
Zfp318	G	A	17: 46,697,662 (GRCm39)	D173N	probably damaging	Het
Zfp638	T	A	6: 83,939,076 (GRCm39)	S936T	probably damaging	Het
Zic2	A	G	14: 122,713,728 (GRCm39)	Y214C	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
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'- GATATGATACCTGCCATGTTTTCC -3'
(R):5'- GTAGAGCATTGCCTTTGGTAGC -3'

Sequencing Primer
(F):5'- CAACTCATTTTTCACCATTAGGGGG -3'
(R):5'- AGCATTGCCTTTGGTAGCAATGG -3'

Posted On

2016-07-22