Mutagenetix > Incidental Mutation

Incidental Mutation 'R6722:Cntnap5b'

529613

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5b

Ensembl Gene

ENSMUSG00000067028

Gene Name

contactin associated protein-like 5B

Synonyms

C230078M14Rik, Caspr5-2

MMRRC Submission

044840-MU

Accession Numbers

Essential gene?

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

Stock #

R6722 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99700490-100413667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100406211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 803 (V803M)

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: V1174M

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: V1174M

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: V803M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139877
Gene: ENSMUSG00000067028
AA Change: V803M

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: 98.2%
20x: 95.0%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	G	12: 81,468,228 (GRCm39)	D131A	probably damaging	Het
Ank3	T	C	10: 69,826,074 (GRCm39)		probably benign	Het
Atp1a4	T	C	1: 172,085,617 (GRCm39)		probably benign	Het
Bmal2	T	A	6: 146,720,398 (GRCm39)	D187E	probably damaging	Het
Castor2	T	C	5: 134,164,458 (GRCm39)	S140P	probably benign	Het
Ccdc162	T	C	10: 41,520,637 (GRCm39)	N673S	probably benign	Het
Cd84	G	A	1: 171,700,344 (GRCm39)	V154M	probably damaging	Het
Celsr1	C	A	15: 85,790,115 (GRCm39)		probably null	Het
Cfap57	A	C	4: 118,441,914 (GRCm39)	L718R	probably damaging	Het
Col6a2	C	T	10: 76,450,392 (GRCm39)	V180I	probably damaging	Het
Coq4	A	T	2: 29,678,297 (GRCm39)		probably benign	Het
Cyp2a4	A	G	7: 26,012,983 (GRCm39)	T389A	probably benign	Het
Dennd1c	T	C	17: 57,373,802 (GRCm39)	D587G	probably benign	Het
Dnaja4	A	G	9: 54,607,038 (GRCm39)	D9G	probably damaging	Het
Hes2	T	G	4: 152,244,834 (GRCm39)	L101R	probably damaging	Het
Icam2	A	G	11: 106,273,307 (GRCm39)	S2P	probably damaging	Het
Krt31	A	G	11: 99,939,254 (GRCm39)	L221P	probably damaging	Het
Lipm	A	T	19: 34,098,665 (GRCm39)	N380Y	probably benign	Het
Lrp2bp	G	A	8: 46,473,600 (GRCm39)		probably null	Het
Mbd2	T	A	18: 70,713,819 (GRCm39)	M216K	probably damaging	Het
Mrps33	T	C	6: 39,782,599 (GRCm39)		probably benign	Het
Nbeal2	T	C	9: 110,462,060 (GRCm39)	D1459G	probably damaging	Het
Ncapd3	T	C	9: 26,998,852 (GRCm39)	S1281P	probably benign	Het
Nt5c1b	T	A	12: 10,422,874 (GRCm39)	Y56N	possibly damaging	Het
Nthl1	A	G	17: 24,853,008 (GRCm39)	K71E	probably benign	Het
Or4f62	T	A	2: 111,987,227 (GRCm39)	N310K	probably benign	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pde4a	G	A	9: 21,122,521 (GRCm39)	A806T	probably damaging	Het
Pde4d	C	A	13: 109,769,432 (GRCm39)	S40*	probably null	Het
Pde4dip	G	A	3: 97,625,555 (GRCm39)	R1348*	probably null	Het
Pdx1	C	T	5: 147,207,310 (GRCm39)	P88S	probably damaging	Het
Pnisr	T	A	4: 21,859,165 (GRCm39)	V120D	probably damaging	Het
Prss51	G	T	14: 64,332,508 (GRCm39)	C65F	probably damaging	Het
Pus10	G	A	11: 23,652,975 (GRCm39)	E195K	possibly damaging	Het
Pzp	T	A	6: 128,464,917 (GRCm39)	Q1319L	probably damaging	Het
Rbpms	G	T	8: 34,324,421 (GRCm39)	T101K	probably damaging	Het
Rundc3a	A	G	11: 102,290,775 (GRCm39)	N281S	possibly damaging	Het
Scml4	C	T	10: 42,736,728 (GRCm39)		probably benign	Het
Sez6	T	C	11: 77,844,528 (GRCm39)	V117A	probably damaging	Het
Sgsm2	A	C	11: 74,756,250 (GRCm39)	C366W	probably damaging	Het
Slc12a4	T	C	8: 106,670,882 (GRCm39)		probably null	Het
Smg5	C	T	3: 88,260,332 (GRCm39)	R641C	probably damaging	Het
Stxbp3	A	G	3: 108,723,762 (GRCm39)	Y150H	probably benign	Het
Thoc2l	T	A	5: 104,668,145 (GRCm39)	M889K	probably damaging	Het
Tkt	T	C	14: 30,291,041 (GRCm39)	F351S	probably damaging	Het
Tln1	A	G	4: 43,547,618 (GRCm39)	L781P	probably damaging	Het
Triobp	G	A	15: 78,885,765 (GRCm39)	E1823K	probably damaging	Het
Ttll4	T	C	1: 74,720,948 (GRCm39)	V538A	possibly damaging	Het
Uba52rt	A	G	4: 3,973,386 (GRCm39)	Y59H	probably benign	Het
Vmn1r61	T	A	7: 5,613,687 (GRCm39)	N209I	possibly damaging	Het
Wdr75	T	A	1: 45,844,512 (GRCm39)		probably null	Het
Zfp985	T	C	4: 147,667,528 (GRCm39)	V132A	probably benign	Het
Zswim3	T	A	2: 164,662,544 (GRCm39)		probably null	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
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'- AGAACAATGAGAGAGTTTCAGCTAT -3'
(R):5'- TATGTAAGGCAGATAGATGGTTGAT -3'

Sequencing Primer
(F):5'- GGTTGGATCCAGAAGTTG -3'
(R):5'- TGCACACAGTGGAATATTACTCAGC -3'

Posted On

2018-08-01