Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03038:Cntnap3'

408785

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntnap3

Ensembl Gene

ENSMUSG00000033063

Gene Name

contactin associated protein-like 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL03038

Quality Score

Status

Chromosome

Chromosomal Location

64883996-65051769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64888839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1153 (D1153E)

Ref Sequence

ENSEMBL: ENSMUSP00000089140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091554]

AlphaFold

E9PY62

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091554
AA Change: D1153E

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: D1153E

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
FA58C	33	180	4.88e-17	SMART
LamG	207	345	1.47e-11	SMART
LamG	394	525	1.43e-23	SMART
EGF	553	587	1.33e-1	SMART
FBG	590	775	6.76e-1	SMART
LamG	815	942	1.89e-32	SMART
EGF_like	963	999	6.28e1	SMART
LamG	1040	1178	9.46e-15	SMART
transmembrane domain	1245	1267	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	T	C	7: 131,030,185 (GRCm39)	Y111H	probably damaging	Het
Arhgef6	C	T	X: 56,290,966 (GRCm39)	V262I	probably benign	Het
Arsk	C	A	13: 76,213,632 (GRCm39)		probably benign	Het
Ces1b	T	C	8: 93,793,680 (GRCm39)	E303G	probably benign	Het
Chst9	T	C	18: 15,628,360 (GRCm39)	Q55R	probably benign	Het
D130043K22Rik	A	G	13: 25,063,602 (GRCm39)	E681G	probably damaging	Het
Fhad1	T	C	4: 141,729,805 (GRCm39)	E66G	probably benign	Het
Flii	T	C	11: 60,615,658 (GRCm39)	T69A	probably benign	Het
Foxl1	A	C	8: 121,855,158 (GRCm39)	E153A	probably damaging	Het
Gstm3	T	C	3: 107,873,485 (GRCm39)	D162G	possibly damaging	Het
Gtpbp3	G	A	8: 71,941,947 (GRCm39)	V96I	possibly damaging	Het
Insig2	G	A	1: 121,247,403 (GRCm39)	T56I	probably damaging	Het
Kif13a	A	G	13: 46,926,314 (GRCm39)	L264P	probably damaging	Het
Lama3	T	G	18: 12,552,307 (GRCm39)	C420G	probably damaging	Het
Lrp2	C	T	2: 69,305,808 (GRCm39)	G2918S	probably damaging	Het
Lrrc8b	T	C	5: 105,629,358 (GRCm39)	L568P	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Malrd1	G	A	2: 16,132,778 (GRCm39)	D1900N	unknown	Het
Mastl	C	A	2: 23,030,627 (GRCm39)		probably benign	Het
Med24	T	G	11: 98,607,010 (GRCm39)	T276P	possibly damaging	Het
Naip1	A	C	13: 100,573,841 (GRCm39)	Y239*	probably null	Het
Nhsl2	A	G	X: 101,122,491 (GRCm39)	K765E	probably damaging	Het
Npy	A	G	6: 49,800,588 (GRCm39)	N4S	probably benign	Het
Nsun2	A	G	13: 69,767,703 (GRCm39)	D188G	probably damaging	Het
Or6c88	A	G	10: 129,406,790 (GRCm39)	T89A	probably benign	Het
Pde1a	C	A	2: 79,718,290 (GRCm39)		probably benign	Het
Pik3cb	G	A	9: 98,947,650 (GRCm39)	A509V	probably damaging	Het
Pou2f2	C	T	7: 24,796,577 (GRCm39)	S315N	probably damaging	Het
Prdm2	A	C	4: 142,860,571 (GRCm39)	S906R	probably damaging	Het
Prkaca	C	A	8: 84,721,580 (GRCm39)	Q300K	probably benign	Het
Prox2	T	C	12: 85,142,038 (GRCm39)	D55G	possibly damaging	Het
Ryr3	T	A	2: 112,498,465 (GRCm39)	T3612S	possibly damaging	Het
S1pr1	T	A	3: 115,506,343 (GRCm39)	I84L	possibly damaging	Het
Slc47a1	C	T	11: 61,243,918 (GRCm39)	V384M	probably benign	Het
Slc6a20b	T	C	9: 123,426,394 (GRCm39)	N497S	possibly damaging	Het
Spen	C	A	4: 141,265,550 (GRCm39)	R3L	unknown	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Ttll6	T	C	11: 96,042,786 (GRCm39)	F444S	probably damaging	Het
Vwce	T	A	19: 10,624,035 (GRCm39)	Y309N	possibly damaging	Het
Vwf	T	C	6: 125,581,120 (GRCm39)	L586P	possibly damaging	Het
Wdr35	T	C	12: 9,024,185 (GRCm39)		probably benign	Het

Other mutations in Cntnap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Cntnap3	APN	13	64,920,545 (GRCm39)	missense	probably damaging	1.00
IGL00782:Cntnap3	APN	13	64,893,619 (GRCm39)	splice site	probably benign
IGL00976:Cntnap3	APN	13	64,942,166 (GRCm39)	missense	probably damaging	1.00
IGL01319:Cntnap3	APN	13	64,935,651 (GRCm39)	missense	probably damaging	1.00
IGL01610:Cntnap3	APN	13	64,905,115 (GRCm39)	missense	probably damaging	0.98
IGL01861:Cntnap3	APN	13	64,946,922 (GRCm39)	missense	probably damaging	1.00
IGL02127:Cntnap3	APN	13	64,946,878 (GRCm39)	splice site	probably benign
IGL02133:Cntnap3	APN	13	64,899,487 (GRCm39)	splice site	probably benign
IGL02251:Cntnap3	APN	13	64,909,850 (GRCm39)	missense	probably damaging	1.00
IGL02272:Cntnap3	APN	13	64,905,225 (GRCm39)	missense	probably damaging	1.00
IGL02370:Cntnap3	APN	13	64,899,565 (GRCm39)	missense	probably benign
IGL02456:Cntnap3	APN	13	64,946,872 (GRCm39)	splice site	probably benign
IGL02589:Cntnap3	APN	13	64,940,244 (GRCm39)	missense	probably benign	0.08
IGL02695:Cntnap3	APN	13	64,919,946 (GRCm39)	missense	probably benign	0.01
IGL02850:Cntnap3	APN	13	64,905,223 (GRCm39)	missense	probably damaging	1.00
IGL03188:Cntnap3	APN	13	64,929,559 (GRCm39)	missense	probably damaging	0.97
IGL03327:Cntnap3	APN	13	65,035,582 (GRCm39)	nonsense	probably null
PIT4480001:Cntnap3	UTSW	13	64,905,024 (GRCm39)	missense	probably damaging	1.00
R0309:Cntnap3	UTSW	13	64,905,250 (GRCm39)	splice site	probably benign
R0422:Cntnap3	UTSW	13	64,905,099 (GRCm39)	missense	probably damaging	0.96
R0463:Cntnap3	UTSW	13	64,926,690 (GRCm39)	missense	probably damaging	1.00
R0491:Cntnap3	UTSW	13	64,909,859 (GRCm39)	missense	probably benign	0.01
R0499:Cntnap3	UTSW	13	65,006,492 (GRCm39)	missense	probably benign	0.33
R0550:Cntnap3	UTSW	13	64,909,814 (GRCm39)	missense	possibly damaging	0.86
R0613:Cntnap3	UTSW	13	64,906,228 (GRCm39)	missense	probably damaging	1.00
R0666:Cntnap3	UTSW	13	64,905,211 (GRCm39)	missense	probably damaging	1.00
R0840:Cntnap3	UTSW	13	64,935,724 (GRCm39)	missense	possibly damaging	0.94
R1577:Cntnap3	UTSW	13	64,906,104 (GRCm39)	missense	probably damaging	1.00
R1716:Cntnap3	UTSW	13	64,909,816 (GRCm39)	missense	probably damaging	1.00
R1732:Cntnap3	UTSW	13	64,888,626 (GRCm39)	critical splice donor site	probably null
R1739:Cntnap3	UTSW	13	64,888,406 (GRCm39)	missense	probably benign	0.17
R1905:Cntnap3	UTSW	13	65,051,578 (GRCm39)	missense	probably benign	0.04
R1988:Cntnap3	UTSW	13	64,906,204 (GRCm39)	missense	probably damaging	1.00
R2086:Cntnap3	UTSW	13	64,942,076 (GRCm39)	missense	possibly damaging	0.76
R3732:Cntnap3	UTSW	13	64,888,813 (GRCm39)	missense	possibly damaging	0.73
R3808:Cntnap3	UTSW	13	64,929,618 (GRCm39)	missense	probably damaging	0.96
R3809:Cntnap3	UTSW	13	64,929,618 (GRCm39)	missense	probably damaging	0.96
R4384:Cntnap3	UTSW	13	64,896,274 (GRCm39)	missense	probably damaging	1.00
R4433:Cntnap3	UTSW	13	64,926,667 (GRCm39)	missense	possibly damaging	0.92
R4631:Cntnap3	UTSW	13	64,926,697 (GRCm39)	missense	probably benign	0.04
R4645:Cntnap3	UTSW	13	64,926,602 (GRCm39)	critical splice donor site	probably null
R4702:Cntnap3	UTSW	13	64,926,676 (GRCm39)	missense	probably benign	0.17
R4876:Cntnap3	UTSW	13	64,935,520 (GRCm39)	missense	probably benign	0.00
R4994:Cntnap3	UTSW	13	64,909,798 (GRCm39)	missense	possibly damaging	0.55
R5043:Cntnap3	UTSW	13	64,942,162 (GRCm39)	missense	probably damaging	1.00
R5214:Cntnap3	UTSW	13	64,909,824 (GRCm39)	missense	probably damaging	1.00
R5403:Cntnap3	UTSW	13	64,909,792 (GRCm39)	missense	possibly damaging	0.90
R5571:Cntnap3	UTSW	13	65,051,572 (GRCm39)	missense	probably damaging	0.98
R5587:Cntnap3	UTSW	13	64,894,552 (GRCm39)	missense	probably damaging	1.00
R5695:Cntnap3	UTSW	13	64,935,769 (GRCm39)	missense	probably damaging	0.99
R5834:Cntnap3	UTSW	13	64,896,391 (GRCm39)	missense	probably benign	0.07
R5892:Cntnap3	UTSW	13	64,946,994 (GRCm39)	missense	probably damaging	1.00
R5950:Cntnap3	UTSW	13	64,935,583 (GRCm39)	missense	probably damaging	1.00
R6526:Cntnap3	UTSW	13	64,929,702 (GRCm39)	missense	possibly damaging	0.96
R6954:Cntnap3	UTSW	13	64,896,373 (GRCm39)	missense	probably benign	0.00
R7138:Cntnap3	UTSW	13	64,929,539 (GRCm39)	critical splice donor site	probably null
R7355:Cntnap3	UTSW	13	64,919,776 (GRCm39)	missense	probably benign
R7425:Cntnap3	UTSW	13	64,906,066 (GRCm39)	missense	probably damaging	1.00
R7521:Cntnap3	UTSW	13	64,919,815 (GRCm39)	missense	probably benign	0.22
R7719:Cntnap3	UTSW	13	64,920,591 (GRCm39)	nonsense	probably null
R7810:Cntnap3	UTSW	13	64,941,122 (GRCm39)	missense	possibly damaging	0.73
R7871:Cntnap3	UTSW	13	65,051,587 (GRCm39)	missense	probably benign	0.00
R8259:Cntnap3	UTSW	13	64,935,681 (GRCm39)	missense	probably damaging	0.99
R8415:Cntnap3	UTSW	13	64,886,479 (GRCm39)	missense	probably benign	0.31
R8491:Cntnap3	UTSW	13	64,933,157 (GRCm39)	missense	probably damaging	1.00
R9086:Cntnap3	UTSW	13	64,929,573 (GRCm39)	missense	probably damaging	1.00
R9087:Cntnap3	UTSW	13	64,899,532 (GRCm39)	missense	probably damaging	0.96
R9398:Cntnap3	UTSW	13	65,051,648 (GRCm39)	missense	probably benign	0.41
R9475:Cntnap3	UTSW	13	64,946,949 (GRCm39)	missense	probably damaging	1.00
R9625:Cntnap3	UTSW	13	65,006,579 (GRCm39)	missense	probably damaging	1.00
R9679:Cntnap3	UTSW	13	64,899,562 (GRCm39)	missense	probably damaging	1.00
Z1176:Cntnap3	UTSW	13	64,940,202 (GRCm39)	missense	probably damaging	0.98
Z1176:Cntnap3	UTSW	13	64,888,686 (GRCm39)	frame shift	probably null
Z1177:Cntnap3	UTSW	13	64,929,706 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02