Mutagenetix > Incidental Mutation

Incidental Mutation 'R6286:Cntnap5b'

508214

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5b

Ensembl Gene

ENSMUSG00000067028

Gene Name

contactin associated protein-like 5B

Synonyms

C230078M14Rik, Caspr5-2

MMRRC Submission

044456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R6286 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99700490-100413667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100182798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 276 (S276T)

Ref Sequence

ENSEMBL: ENSMUSP00000139877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086738] [ENSMUST00000188735]

AlphaFold

Q0V8T8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086738
AA Change: S590T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: S590T

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

possibly damaging
Transcript: ENSMUST00000188735
AA Change: S276T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139877
Gene: ENSMUSG00000067028
AA Change: S276T

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

0.1014

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	T	A	17: 72,187,842 (GRCm39)	M1300L	probably damaging	Het
C3	A	T	17: 57,531,118 (GRCm39)	I356N	probably damaging	Het
Cts7	C	T	13: 61,500,584 (GRCm39)	G321E	probably damaging	Het
Cyp11a1	G	A	9: 57,924,701 (GRCm39)		probably benign	Het
Ddx4	T	C	13: 112,750,269 (GRCm39)	T421A	probably damaging	Het
Dnttip2	A	G	3: 122,078,049 (GRCm39)	T694A	probably damaging	Het
Eif3b	G	T	5: 140,405,566 (GRCm39)	D151Y	probably damaging	Het
Fhad1	T	A	4: 141,648,209 (GRCm39)	E219V	probably damaging	Het
Gdf2	C	T	14: 33,667,057 (GRCm39)	R260C	probably damaging	Het
Gm14295	T	C	2: 176,501,361 (GRCm39)	Y284H	possibly damaging	Het
Gm45861	A	G	8: 28,019,619 (GRCm39)	T745A	unknown	Het
Grin2a	G	A	16: 9,579,639 (GRCm39)	T208I	possibly damaging	Het
Ide	T	A	19: 37,255,409 (GRCm39)	Y798F	unknown	Het
Llgl1	G	A	11: 60,600,358 (GRCm39)	G569D	probably damaging	Het
Mrpl9	G	C	3: 94,351,097 (GRCm39)	E92D	probably benign	Het
Muc16	T	A	9: 18,555,685 (GRCm39)	H3536L	unknown	Het
Nasp	T	C	4: 116,461,985 (GRCm39)	Y526C	probably damaging	Het
Nfx1	A	G	4: 40,986,728 (GRCm39)	N404D	probably damaging	Het
Nsrp1	A	G	11: 76,940,269 (GRCm39)	I112T	probably damaging	Het
Or6c7	T	C	10: 129,323,497 (GRCm39)	L206P	probably damaging	Het
Or8b8	A	T	9: 37,809,074 (GRCm39)	I125F	probably damaging	Het
Oxsr1	A	G	9: 119,093,948 (GRCm39)	V235A	probably damaging	Het
Pamr1	C	T	2: 102,471,293 (GRCm39)	Q539*	probably null	Het
Pramel20	T	A	4: 143,297,796 (GRCm39)	V72D	probably benign	Het
Ptpn4	A	G	1: 119,649,592 (GRCm39)		probably null	Het
Ranbp2	C	T	10: 58,315,394 (GRCm39)	A2038V	probably benign	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Homo
Septin5	A	G	16: 18,442,127 (GRCm39)	V253A	probably damaging	Het
Skic3	T	C	13: 76,291,359 (GRCm39)	L993P	probably damaging	Het
Slc22a13	C	A	9: 119,037,778 (GRCm39)	E117*	probably null	Het
Slc9c1	T	C	16: 45,398,194 (GRCm39)	I653T	probably benign	Het
Slco6c1	T	A	1: 97,053,445 (GRCm39)	H152L	possibly damaging	Het
Sp2	A	C	11: 96,852,372 (GRCm39)	V184G	probably benign	Het
Taok1	T	A	11: 77,444,599 (GRCm39)	H492L	probably benign	Het
Tas2r110	G	A	6: 132,845,490 (GRCm39)	D174N	probably benign	Het
Trim24	G	A	6: 37,896,426 (GRCm39)		probably null	Het
Ttn	G	A	2: 76,581,321 (GRCm39)	R21445*	probably null	Het
Ttn	A	G	2: 76,605,967 (GRCm39)	Y16502H	probably damaging	Het
Vmn2r84	A	C	10: 130,226,737 (GRCm39)	M367R	possibly damaging	Het
Zfp46	T	C	4: 136,018,320 (GRCm39)	S385P	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
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
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'- TGTTTGAGTGGAAAATTCAAGCAG -3'
(R):5'- CCCCATGAATCTAGTCCTGTAGG -3'

Sequencing Primer
(F):5'- TCTAGGGGCCTCAAGTTCCAAC -3'
(R):5'- AGTCCTGTAGGTATTTTTACACTCTG -3'

Posted On

2018-03-15