Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00417:Cntnap5b'

7400

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntnap5b

Ensembl Gene

ENSMUSG00000067028

Gene Name

contactin associated protein-like 5B

Synonyms

Caspr5-2, C230078M14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

IGL00417

Quality Score

Status

Chromosome

Chromosomal Location

99772765-100485942 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100050754 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 165 (I165T)

Ref Sequence

ENSEMBL: ENSMUSP00000083944 (fasta)

Gene Model

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

AlphaFold

Q0V8T8

Predicted Effect

probably damaging
Transcript: ENSMUST00000086738
AA Change: I165T

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

SMART Domains

Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: I165T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,423,759	I39M	probably benign	Het
Acoxl	G	A	2: 127,978,804	C92Y	probably damaging	Het
Actl6b	G	T	5: 137,554,637	R76L	probably damaging	Het
Ank	T	C	15: 27,544,351	M66T	possibly damaging	Het
C6	C	T	15: 4,759,967	A298V	possibly damaging	Het
Clip4	A	T	17: 71,849,942	N591Y	probably damaging	Het
Dennd1b	G	A	1: 139,062,940	R214H	probably damaging	Het
Eri2	G	A	7: 119,787,741	T185I	probably benign	Het
Fbxo33	A	G	12: 59,202,670	V476A	probably damaging	Het
Fer1l4	G	A	2: 156,019,920	R1826*	probably null	Het
Fyb	A	T	15: 6,580,777	K277I	probably damaging	Het
Gli3	C	A	13: 15,644,299	H229N	probably damaging	Het
Hmcn1	T	C	1: 150,677,278	I2554V	probably benign	Het
Maml2	A	T	9: 13,621,604		probably benign	Het
Map4k4	T	C	1: 40,014,532	F930L	possibly damaging	Het
Mmadhc	T	C	2: 50,289,031	D125G	probably benign	Het
Nipbl	A	G	15: 8,366,673	S139P	probably damaging	Het
Obscn	A	G	11: 59,006,788	L6647P	unknown	Het
Ppara	C	A	15: 85,801,067	H406N	probably benign	Het
Psg27	T	A	7: 18,561,917	H201L	probably benign	Het
Qser1	A	T	2: 104,786,903	I1188N	probably damaging	Het
Rc3h1	T	C	1: 160,955,981		probably null	Het
Sept2	C	T	1: 93,499,142	H158Y	probably damaging	Het
Snx9	C	A	17: 5,891,897	Q100K	probably benign	Het
Spata5	A	G	3: 37,451,802	I677V	possibly damaging	Het
Thnsl2	G	A	6: 71,131,900	T309I	probably damaging	Het
Thsd7b	A	G	1: 129,595,834	R125G	probably damaging	Het
Tmem62	T	G	2: 121,006,964		probably null	Het
Tnpo3	A	T	6: 29,578,461		probably null	Het
Trpc6	A	T	9: 8,680,438	D889V	probably damaging	Het
Tubgcp6	C	A	15: 89,104,008	V913L	probably benign	Het
Uox	A	T	3: 146,627,810	M255L	probably benign	Het

Other mutations in Cntnap5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Cntnap5b	APN	1	100,213,743 (GRCm38)	missense	probably damaging	0.97
IGL00505:Cntnap5b	APN	1	100,379,161 (GRCm38)	missense	possibly damaging	0.81
IGL00596:Cntnap5b	APN	1	100,379,161 (GRCm38)	missense	possibly damaging	0.81
IGL00846:Cntnap5b	APN	1	100,164,223 (GRCm38)	missense	probably damaging	1.00
IGL00895:Cntnap5b	APN	1	100,383,585 (GRCm38)	missense	probably damaging	0.98
IGL00948:Cntnap5b	APN	1	100,141,357 (GRCm38)	missense	probably benign	0.00
IGL01073:Cntnap5b	APN	1	100,076,030 (GRCm38)	missense	probably benign	0.08
IGL01523:Cntnap5b	APN	1	100,431,779 (GRCm38)	missense	probably benign	0.02
IGL01779:Cntnap5b	APN	1	99,967,339 (GRCm38)	missense	probably damaging	1.00
IGL02253:Cntnap5b	APN	1	100,164,211 (GRCm38)	missense	possibly damaging	0.75
IGL02628:Cntnap5b	APN	1	100,072,069 (GRCm38)	missense	probably damaging	0.97
R0166:Cntnap5b	UTSW	1	100,274,361 (GRCm38)	missense	probably benign	0.41
R0211:Cntnap5b	UTSW	1	100,478,374 (GRCm38)	missense	possibly damaging	0.82
R0281:Cntnap5b	UTSW	1	100,072,153 (GRCm38)	missense	probably benign	0.22
R0363:Cntnap5b	UTSW	1	100,274,468 (GRCm38)	missense	probably benign	0.01
R0514:Cntnap5b	UTSW	1	99,772,786 (GRCm38)	missense	probably benign
R0645:Cntnap5b	UTSW	1	100,072,042 (GRCm38)	splice site	probably benign
R0848:Cntnap5b	UTSW	1	100,255,163 (GRCm38)	missense	probably benign	0.22
R1006:Cntnap5b	UTSW	1	100,383,617 (GRCm38)	missense	probably benign	0.00
R1349:Cntnap5b	UTSW	1	100,164,088 (GRCm38)	missense	probably benign	0.09
R1372:Cntnap5b	UTSW	1	100,164,088 (GRCm38)	missense	probably benign	0.09
R1474:Cntnap5b	UTSW	1	100,072,089 (GRCm38)	missense	probably benign	0.25
R1681:Cntnap5b	UTSW	1	100,076,107 (GRCm38)	missense	probably damaging	0.98
R1727:Cntnap5b	UTSW	1	100,213,744 (GRCm38)	missense	possibly damaging	0.91
R1760:Cntnap5b	UTSW	1	99,772,810 (GRCm38)	missense	probably benign	0.05
R1777:Cntnap5b	UTSW	1	100,370,078 (GRCm38)	missense	probably benign	0.10
R1939:Cntnap5b	UTSW	1	99,967,348 (GRCm38)	missense	probably benign
R1988:Cntnap5b	UTSW	1	100,072,140 (GRCm38)	missense	possibly damaging	0.92
R2069:Cntnap5b	UTSW	1	100,358,725 (GRCm38)	missense	probably benign	0.04
R2113:Cntnap5b	UTSW	1	100,274,415 (GRCm38)	missense	probably benign
R2148:Cntnap5b	UTSW	1	100,383,474 (GRCm38)	missense	probably benign	0.01
R2158:Cntnap5b	UTSW	1	100,390,572 (GRCm38)	missense	probably damaging	1.00
R2223:Cntnap5b	UTSW	1	100,213,687 (GRCm38)	missense	probably damaging	1.00
R2350:Cntnap5b	UTSW	1	100,379,126 (GRCm38)	missense	probably damaging	1.00
R3840:Cntnap5b	UTSW	1	100,383,477 (GRCm38)	missense	possibly damaging	0.50
R4329:Cntnap5b	UTSW	1	100,072,163 (GRCm38)	missense	probably damaging	0.99
R4609:Cntnap5b	UTSW	1	99,772,847 (GRCm38)	critical splice donor site	probably null
R4799:Cntnap5b	UTSW	1	100,358,725 (GRCm38)	missense	probably benign	0.04
R5129:Cntnap5b	UTSW	1	100,379,090 (GRCm38)	missense	probably damaging	1.00
R5323:Cntnap5b	UTSW	1	100,383,550 (GRCm38)	nonsense	probably null
R5434:Cntnap5b	UTSW	1	100,072,201 (GRCm38)	missense	probably benign	0.02
R5579:Cntnap5b	UTSW	1	100,383,399 (GRCm38)	missense	probably benign	0.27
R5579:Cntnap5b	UTSW	1	100,383,395 (GRCm38)	nonsense	probably null
R5630:Cntnap5b	UTSW	1	100,072,069 (GRCm38)	missense	probably damaging	0.99
R5644:Cntnap5b	UTSW	1	100,383,601 (GRCm38)	missense	probably benign	0.00
R5761:Cntnap5b	UTSW	1	100,446,894 (GRCm38)	missense	probably damaging	1.00
R6042:Cntnap5b	UTSW	1	100,390,592 (GRCm38)	missense	probably benign
R6147:Cntnap5b	UTSW	1	100,050,781 (GRCm38)	missense	probably damaging	1.00
R6190:Cntnap5b	UTSW	1	100,379,075 (GRCm38)	missense	possibly damaging	0.80
R6248:Cntnap5b	UTSW	1	100,072,102 (GRCm38)	missense	probably benign	0.30
R6286:Cntnap5b	UTSW	1	100,255,073 (GRCm38)	missense	possibly damaging	0.82
R6306:Cntnap5b	UTSW	1	100,164,146 (GRCm38)	missense	probably damaging	1.00
R6336:Cntnap5b	UTSW	1	100,358,669 (GRCm38)	missense	probably benign	0.00
R6360:Cntnap5b	UTSW	1	100,431,736 (GRCm38)	nonsense	probably null
R6722:Cntnap5b	UTSW	1	100,478,486 (GRCm38)	missense	probably damaging	0.98
R6750:Cntnap5b	UTSW	1	100,274,499 (GRCm38)	missense	probably damaging	1.00
R6806:Cntnap5b	UTSW	1	99,940,649 (GRCm38)	missense	probably damaging	1.00
R6933:Cntnap5b	UTSW	1	100,383,450 (GRCm38)	missense	probably benign	0.01
R6957:Cntnap5b	UTSW	1	100,274,472 (GRCm38)	missense	probably benign	0.08
R6958:Cntnap5b	UTSW	1	100,274,472 (GRCm38)	missense	probably benign	0.08
R6959:Cntnap5b	UTSW	1	100,274,472 (GRCm38)	missense	probably benign	0.08
R6961:Cntnap5b	UTSW	1	100,274,472 (GRCm38)	missense	probably benign	0.08
R6962:Cntnap5b	UTSW	1	100,274,472 (GRCm38)	missense	probably benign	0.08
R7088:Cntnap5b	UTSW	1	100,160,077 (GRCm38)	missense	probably damaging	0.99
R7146:Cntnap5b	UTSW	1	100,050,794 (GRCm38)	splice site	probably null
R7165:Cntnap5b	UTSW	1	100,076,162 (GRCm38)	missense	possibly damaging	0.94
R7190:Cntnap5b	UTSW	1	100,431,849 (GRCm38)	splice site	probably null
R7376:Cntnap5b	UTSW	1	99,967,269 (GRCm38)	missense	possibly damaging	0.92
R7385:Cntnap5b	UTSW	1	100,379,090 (GRCm38)	missense	probably damaging	1.00
R8053:Cntnap5b	UTSW	1	100,390,677 (GRCm38)	missense	probably damaging	0.98
R8080:Cntnap5b	UTSW	1	100,072,203 (GRCm38)	missense	probably benign	0.16
R8082:Cntnap5b	UTSW	1	100,379,216 (GRCm38)	missense	probably benign	0.00
R8271:Cntnap5b	UTSW	1	100,072,107 (GRCm38)	missense	probably benign	0.00
R8303:Cntnap5b	UTSW	1	100,141,297 (GRCm38)	missense	probably damaging	1.00
R8428:Cntnap5b	UTSW	1	100,383,585 (GRCm38)	missense	probably damaging	0.98
R9131:Cntnap5b	UTSW	1	100,050,643 (GRCm38)	missense	probably benign	0.22
R9144:Cntnap5b	UTSW	1	100,050,787 (GRCm38)	missense	probably damaging	1.00
R9522:Cntnap5b	UTSW	1	100,484,622 (GRCm38)	missense	probably benign	0.00
R9611:Cntnap5b	UTSW	1	99,967,210 (GRCm38)	missense	probably damaging	1.00
RF007:Cntnap5b	UTSW	1	100,164,070 (GRCm38)	missense	probably damaging	1.00
X0020:Cntnap5b	UTSW	1	100,431,848 (GRCm38)	critical splice donor site	probably null
Z1176:Cntnap5b	UTSW	1	100,164,228 (GRCm38)	missense	possibly damaging	0.86
Z1176:Cntnap5b	UTSW	1	99,967,270 (GRCm38)	missense	probably damaging	0.99
Z1176:Cntnap5b	UTSW	1	100,446,840 (GRCm38)	missense	probably benign	0.01
Z1177:Cntnap5b	UTSW	1	100,050,706 (GRCm38)	missense	probably damaging	0.96

Posted On

2012-04-20