Mutagenetix > Incidental Mutation

Incidental Mutation 'R6961:Cntnap5b'

541737

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5b

Ensembl Gene

ENSMUSG00000067028

Gene Name

contactin associated protein-like 5B

Synonyms

C230078M14Rik, Caspr5-2

MMRRC Submission

045071-MU

Accession Numbers

Essential gene?

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

Stock #

R6961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99700490-100413667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100202197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 348 (E348G)

Ref Sequence

ENSEMBL: ENSMUSP00000139877 (fasta)

Gene Model

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

AlphaFold

Q0V8T8

Predicted Effect

probably benign
Transcript: ENSMUST00000086738
AA Change: E662G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: E662G

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 benign
Transcript: ENSMUST00000188735
AA Change: E348G

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139877
Gene: ENSMUSG00000067028
AA Change: E348G

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,024,148 (GRCm39)	L168P	probably damaging	Het
Atp6v0d1	A	G	8: 106,255,849 (GRCm39)	L173P	probably damaging	Het
Baiap2l2	A	G	15: 79,168,835 (GRCm39)	F23L	probably damaging	Het
Cd200l1	T	A	16: 45,264,366 (GRCm39)	Y64F	probably benign	Het
Cdh23	G	C	10: 60,485,893 (GRCm39)	L41V	probably benign	Het
Cep120	C	A	18: 53,836,277 (GRCm39)	E803*	probably null	Het
Clcn7	C	T	17: 25,376,188 (GRCm39)	P560S	probably damaging	Het
Cldn12	A	T	5: 5,557,707 (GRCm39)	V240D	probably damaging	Het
Clec1a	C	T	6: 129,406,946 (GRCm39)	E190K	probably benign	Het
Crispld1	T	A	1: 17,832,365 (GRCm39)	H450Q	probably damaging	Het
Dsc2	A	T	18: 20,171,279 (GRCm39)	N573K	probably damaging	Het
Fam186a	T	A	15: 99,838,082 (GRCm39)	I2721F	probably benign	Het
Fbxl13	A	G	5: 21,748,740 (GRCm39)	F393S	probably damaging	Het
Fut1	A	T	7: 45,268,963 (GRCm39)	I306F	probably damaging	Het
Gas2l3	T	C	10: 89,249,153 (GRCm39)	D655G	probably benign	Het
Gm29106	A	T	1: 118,128,128 (GRCm39)	K607*	probably null	Het
Gm57858	T	A	3: 36,104,766 (GRCm39)	I32F	possibly damaging	Het
Hmg20a	T	C	9: 56,396,012 (GRCm39)	V268A	probably benign	Het
Il2rb	T	A	15: 78,370,024 (GRCm39)	Y205F	probably damaging	Het
Ints4	A	G	7: 97,190,397 (GRCm39)	*965W	probably null	Het
Itsn2	T	A	12: 4,723,420 (GRCm39)	C1118*	probably null	Het
Jakmip1	T	C	5: 37,330,697 (GRCm39)	L459P	probably damaging	Het
Klhl8	T	C	5: 104,018,435 (GRCm39)	T323A	possibly damaging	Het
Mindy3	C	A	2: 12,400,989 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,250,369 (GRCm39)	T79A	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Napa	C	T	7: 15,843,034 (GRCm39)	R53*	probably null	Het
Nudt21	A	C	8: 94,755,508 (GRCm39)	D133E	probably benign	Het
Or2y3	T	A	17: 38,393,096 (GRCm39)	I258F	probably damaging	Het
Or4c115	T	A	2: 88,928,149 (GRCm39)	M41L	probably benign	Het
Or52b1	A	T	7: 104,978,913 (GRCm39)	I162K	probably damaging	Het
Or52s19	A	G	7: 103,007,789 (GRCm39)	V204A	possibly damaging	Het
Or56a41	A	T	7: 104,741,978 (GRCm39)	M16K	probably benign	Het
Or6c7	T	C	10: 129,323,331 (GRCm39)	F151L	probably damaging	Het
Pate13	G	A	9: 35,819,740 (GRCm39)	M1I	probably null	Het
Pira13	T	C	7: 3,828,124 (GRCm39)	Y61C	probably damaging	Het
Pla2g4e	G	T	2: 120,004,851 (GRCm39)		probably null	Het
Ptbp1	T	C	10: 79,695,111 (GRCm39)		probably null	Het
Scfd2	A	C	5: 74,680,202 (GRCm39)	V317G	possibly damaging	Het
Slc45a1	T	C	4: 150,714,110 (GRCm39)	M712V	probably damaging	Het
Smg7	A	T	1: 152,717,334 (GRCm39)	L919*	probably null	Het
Sspo	T	A	6: 48,440,811 (GRCm39)	S1758T	probably benign	Het
Tgfb2	A	T	1: 186,382,032 (GRCm39)	M165K	possibly damaging	Het
Tie1	C	T	4: 118,343,402 (GRCm39)	V154M	probably damaging	Het
Timm17a	A	G	1: 135,238,816 (GRCm39)		probably benign	Het
Tlr5	C	T	1: 182,801,076 (GRCm39)	R127*	probably null	Het
Ttc29	A	C	8: 79,003,545 (GRCm39)	I254L	possibly damaging	Het
Unc79	T	C	12: 103,079,174 (GRCm39)	S1780P	probably damaging	Het
Vmn2r106	A	T	17: 20,488,646 (GRCm39)	Y584*	probably null	Het
Zbtb24	A	G	10: 41,331,171 (GRCm39)	E366G	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
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
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'- ACTGCTTTGTCCTTTGAGTGAC -3'
(R):5'- GAGCATTGTGACCCACTTCTTATC -3'

Sequencing Primer
(F):5'- AGTGACTCATGTTTATGTACTCTTGC -3'
(R):5'- GAGCACTCCACATCAGTCTTGGAG -3'

Posted On

2018-11-28