Mutagenetix > Incidental Mutation

Incidental Mutation 'R2158:Cntnap5b'

234961

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5b

Ensembl Gene

ENSMUSG00000067028

Gene Name

contactin associated protein-like 5B

Synonyms

C230078M14Rik, Caspr5-2

MMRRC Submission

040161-MU

Accession Numbers

Essential gene?

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

Stock #

R2158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99700490-100413667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100318297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1019 (D1019V)

Ref Sequence

ENSEMBL: ENSMUSP00000083944 (fasta)

Gene Model

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

AlphaFold

Q0V8T8

Predicted Effect

probably damaging
Transcript: ENSMUST00000086738
AA Change: D1019V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: D1019V

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 damaging
Transcript: ENSMUST00000188735
AA Change: D648V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139877
Gene: ENSMUSG00000067028
AA Change: D648V

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

0.2133

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,766,608 (GRCm39)	V65A	possibly damaging	Het
4930402F06Rik	A	T	2: 35,275,680 (GRCm39)	S38T	possibly damaging	Het
Adam4	A	G	12: 81,468,537 (GRCm39)	L28S	probably damaging	Het
Agmo	T	A	12: 37,407,709 (GRCm39)	F198I	probably damaging	Het
Akap7	A	G	10: 25,047,062 (GRCm39)	V45A	probably damaging	Het
Amotl1	G	T	9: 14,486,465 (GRCm39)	N476K	probably benign	Het
Apcs	A	G	1: 172,722,100 (GRCm39)	L82P	probably damaging	Het
Armc3	C	A	2: 19,253,444 (GRCm39)	P195Q	probably damaging	Het
Astn2	A	T	4: 66,322,491 (GRCm39)	L36Q	unknown	Het
Atad2	A	T	15: 57,961,962 (GRCm39)	S870T	possibly damaging	Het
Bmp10	A	T	6: 87,411,062 (GRCm39)	D285V	probably benign	Het
Caskin1	T	C	17: 24,724,128 (GRCm39)	V972A	probably benign	Het
Ccdc141	T	A	2: 76,861,015 (GRCm39)	N921Y	probably damaging	Het
Eml5	T	C	12: 98,810,205 (GRCm39)		probably benign	Het
Evi5l	T	C	8: 4,243,195 (GRCm39)	Y360H	probably damaging	Het
Ewsr1	A	G	11: 5,041,450 (GRCm39)		probably benign	Het
Fn3k	A	T	11: 121,339,712 (GRCm39)	N158I	probably damaging	Het
Galnt17	C	T	5: 130,935,540 (GRCm39)	R381Q	probably damaging	Het
Golga3	A	T	5: 110,335,227 (GRCm39)	K180N	probably damaging	Het
Hipk1	A	G	3: 103,667,854 (GRCm39)	L571P	probably damaging	Het
Hormad2	T	A	11: 4,374,808 (GRCm39)	K69*	probably null	Het
Hspg2	A	T	4: 137,244,915 (GRCm39)	D880V	probably damaging	Het
Ido2	T	A	8: 25,030,652 (GRCm39)	D226V	probably damaging	Het
Irs3	A	G	5: 137,642,961 (GRCm39)	F159S	probably damaging	Het
Itgb1bp1	T	C	12: 21,326,860 (GRCm39)	T38A	probably damaging	Het
Kif11	A	G	19: 37,399,062 (GRCm39)	I749V	probably benign	Het
Lrp1b	T	G	2: 40,769,567 (GRCm39)	M2811L	probably benign	Het
Lysmd3	A	G	13: 81,817,737 (GRCm39)	Y238C	probably damaging	Het
Mapk11	G	A	15: 89,030,575 (GRCm39)	T106M	probably damaging	Het
Mdga2	C	T	12: 66,736,155 (GRCm39)	V358I	possibly damaging	Het
Muc4	C	T	16: 32,754,563 (GRCm38)	T1479I	probably benign	Het
Myom1	T	C	17: 71,371,592 (GRCm39)	V578A	possibly damaging	Het
Nek10	T	G	14: 14,885,047 (GRCm38)		probably null	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Or2t47	T	A	11: 58,442,768 (GRCm39)	Q99L	probably damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or51a24	T	G	7: 103,734,033 (GRCm39)	T85P	probably benign	Het
Or51v14	G	C	7: 103,261,443 (GRCm39)	T39R	possibly damaging	Het
Or52a5b	G	T	7: 103,417,168 (GRCm39)	C145*	probably null	Het
Or8d23	T	C	9: 38,841,875 (GRCm39)	M136T	probably damaging	Het
Pde4dip	A	T	3: 97,664,937 (GRCm39)	C333S	probably benign	Het
Pglyrp2	T	A	17: 32,637,222 (GRCm39)	I269F	probably benign	Het
Plch1	A	G	3: 63,628,655 (GRCm39)	V536A	probably benign	Het
Popdc2	T	A	16: 38,183,188 (GRCm39)	L57Q	probably damaging	Het
Pramel14	T	C	4: 143,720,885 (GRCm39)	R19G	possibly damaging	Het
Riox1	A	G	12: 83,997,709 (GRCm39)	K82E	probably benign	Het
Rnasel	G	A	1: 153,630,647 (GRCm39)	V388M	probably damaging	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Snx25	A	G	8: 46,494,444 (GRCm39)	S814P	probably damaging	Het
Spta1	A	T	1: 174,056,824 (GRCm39)	H1859L	probably benign	Het
Strc	T	C	2: 121,196,343 (GRCm39)	I1562V	probably benign	Het
Taar5	T	A	10: 23,846,986 (GRCm39)	I128N	probably damaging	Het
Ttc28	C	T	5: 111,325,483 (GRCm39)		probably benign	Het
Vcan	A	T	13: 89,851,648 (GRCm39)	M1104K	possibly damaging	Het
Vnn1	C	T	10: 23,776,653 (GRCm39)	Q335*	probably null	Het
Zic1	T	C	9: 91,246,946 (GRCm39)	D42G	possibly 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
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	100,311,124 (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'- GTTTAACACCCATCACACAGTG -3'
(R):5'- ACCTAGCTGTGAGTGTCTGC -3'

Sequencing Primer
(F):5'- ATGATCAGGCATTACAACCACTTAG -3'
(R):5'- CTGCAGTATAATGAAGGCTGGTC -3'

Posted On

2014-10-01