Mutagenetix > Incidental Mutation

Incidental Mutation 'R6042:Cntnap5b'

483591

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5b

Ensembl Gene

ENSMUSG00000067028

Gene Name

contactin associated protein-like 5B

Synonyms

C230078M14Rik, Caspr5-2

MMRRC Submission

044210-MU

Accession Numbers

Essential gene?

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

Stock #

R6042 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99700490-100413667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100318317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 655 (A655T)

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: A1026T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: A1026T

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: A655T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139877
Gene: ENSMUSG00000067028
AA Change: A655T

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,224,023 (GRCm39)	K478M	probably benign	Het
Ankar	G	T	1: 72,713,213 (GRCm39)	S474*	probably null	Het
Barx2	C	A	9: 31,758,199 (GRCm39)	E246D	probably benign	Het
Cdh20	A	T	1: 110,065,997 (GRCm39)	Q757L	probably damaging	Het
Cnr1	T	C	4: 33,944,751 (GRCm39)	F380L	probably damaging	Het
Col2a1	T	A	15: 97,898,451 (GRCm39)		probably benign	Het
Crybg3	C	T	16: 59,370,838 (GRCm39)	R2340Q	possibly damaging	Het
Ctsb	G	T	14: 63,379,305 (GRCm39)	D306Y	probably damaging	Het
Cyp2a22	A	C	7: 26,633,664 (GRCm39)	Y349D	probably damaging	Het
Dcpp2	T	C	17: 24,117,886 (GRCm39)	L22S	probably damaging	Het
Dnah8	G	T	17: 30,966,239 (GRCm39)	M2476I	probably damaging	Het
Dst	A	G	1: 34,228,053 (GRCm39)	E1882G	probably damaging	Het
Esrp1	T	C	4: 11,357,580 (GRCm39)	K511E	possibly damaging	Het
Fat3	T	A	9: 16,289,113 (GRCm39)	T137S	probably benign	Het
Fbxw24	T	A	9: 109,436,079 (GRCm39)	M318L	probably benign	Het
Fpr-rs7	T	A	17: 20,333,477 (GRCm39)	T338S	probably benign	Het
Gcgr	T	C	11: 120,425,584 (GRCm39)	M1T	probably null	Het
Grifin	C	A	5: 140,549,311 (GRCm39)	R135L	possibly damaging	Het
Helz	T	C	11: 107,504,946 (GRCm39)		probably null	Het
Hivep3	C	G	4: 119,955,061 (GRCm39)	Q1126E	possibly damaging	Het
Htr3a	T	A	9: 48,815,999 (GRCm39)	H146L	probably damaging	Het
Lama3	T	A	18: 12,707,311 (GRCm39)	V3081E	probably damaging	Het
Mgat5	T	A	1: 127,387,636 (GRCm39)	C531S	probably damaging	Het
Mical2	A	G	7: 111,979,619 (GRCm39)	D106G	probably benign	Het
Nectin2	C	T	7: 19,472,063 (GRCm39)	A109T	probably benign	Het
Olig3	T	C	10: 19,232,503 (GRCm39)	S43P	probably damaging	Het
Or5an9	A	T	19: 12,187,286 (GRCm39)	M119L	probably damaging	Het
Or8b39	T	A	9: 37,996,390 (GRCm39)	V86E	probably damaging	Het
Pcdh12	T	C	18: 38,414,558 (GRCm39)	R856G	probably damaging	Het
Phpt1	T	A	2: 25,464,851 (GRCm39)	M1L	probably benign	Het
Polr2m	T	C	9: 71,391,080 (GRCm39)	I41V	probably damaging	Het
Pramel28	G	T	4: 143,692,631 (GRCm39)	D123E	probably benign	Het
Pzp	A	G	6: 128,500,977 (GRCm39)	V127A	possibly damaging	Het
Rgs7	G	T	1: 174,977,226 (GRCm39)	T126K	probably damaging	Het
RP23-399J5.1	T	C	8: 71,542,571 (GRCm39)		noncoding transcript	Het
Rras	A	T	7: 44,669,820 (GRCm39)	D112V	probably damaging	Het
Sdcbp2	T	A	2: 151,424,646 (GRCm39)	Y5*	probably null	Het
Slc43a2	T	C	11: 75,461,433 (GRCm39)	F462L	probably damaging	Het
Smchd1	T	A	17: 71,684,052 (GRCm39)	K1436*	probably null	Het
Snrnp27	A	C	6: 86,659,902 (GRCm39)	S31A	unknown	Het
Sqstm1	A	C	11: 50,098,251 (GRCm39)	F172V	probably benign	Het
Stk32b	T	A	5: 37,806,458 (GRCm39)	I29F	probably damaging	Het
Syt10	G	A	15: 89,725,824 (GRCm39)	T50I	probably benign	Het
Syt16	T	C	12: 74,313,504 (GRCm39)	Y477H	probably damaging	Het
Tacr3	A	T	3: 134,638,153 (GRCm39)	T437S	probably benign	Het
Tg	G	A	15: 66,555,842 (GRCm39)	D845N	probably benign	Het
Uqcc1	G	T	2: 155,763,564 (GRCm39)	S36R	possibly damaging	Het
Vmn1r20	T	C	6: 57,409,391 (GRCm39)	V239A	possibly damaging	Het
Xpo7	T	A	14: 70,933,103 (GRCm39)	Q263L	possibly damaging	Het
Zfp442	T	C	2: 150,250,016 (GRCm39)	K572E	probably damaging	Het
Zswim5	A	C	4: 116,819,818 (GRCm39)	S408R	probably benign	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
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'- TCAGGCATTACAACCACTTAGAG -3'
(R):5'- AATCAAGTTGGACCTGGCAC -3'

Sequencing Primer
(F):5'- GGCATTACAACCACTTAGAGTAATTG -3'
(R):5'- ATGTTAGCCTGAAGCCACCTAG -3'

Posted On

2017-07-14