Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02251:Cntnap3'

286403

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 #

IGL02251

Quality Score

Status

Chromosome

Chromosomal Location

64883996-65051769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64909850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 752 (T752S)

Ref Sequence

ENSEMBL: ENSMUSP00000089140 (fasta)

Gene Model

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

AlphaFold

E9PY62

Predicted Effect

probably damaging
Transcript: ENSMUST00000091554
AA Change: T752S

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

SMART Domains

Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: T752S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222618

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
Abcc6	A	G	7: 45,626,840 (GRCm39)	C1406R	probably damaging	Het
Acp2	T	A	2: 91,038,678 (GRCm39)		probably null	Het
Antxr2	A	C	5: 98,125,454 (GRCm39)		probably null	Het
Arhgef11	C	T	3: 87,590,854 (GRCm39)	R32C	probably damaging	Het
Armc6	A	T	8: 70,677,870 (GRCm39)	L153*	probably null	Het
Btnl2	G	T	17: 34,582,213 (GRCm39)	G260*	probably null	Het
Ccnf	A	G	17: 24,445,513 (GRCm39)	S551P	probably benign	Het
Cdh19	A	G	1: 110,882,382 (GRCm39)	S37P	probably benign	Het
Crispld1	A	G	1: 17,799,064 (GRCm39)	M62V	probably benign	Het
Ddr1	G	A	17: 35,994,372 (GRCm39)	A801V	probably damaging	Het
Dner	G	T	1: 84,361,747 (GRCm39)	Q621K	probably damaging	Het
Dph6	A	G	2: 114,366,004 (GRCm39)		probably null	Het
Dpp3	T	G	19: 4,968,343 (GRCm39)	H243P	probably benign	Het
Eif3j2	T	A	18: 43,610,431 (GRCm39)	K127N	probably damaging	Het
Esrp1	G	A	4: 11,361,202 (GRCm39)	R315C	probably damaging	Het
Gm973	A	C	1: 59,621,582 (GRCm39)	H574P	probably benign	Het
Gprasp1	G	A	X: 134,701,288 (GRCm39)	V494I	probably benign	Het
Hbb-bh1	T	A	7: 103,492,017 (GRCm39)	K66*	probably null	Het
Hoxb9	T	A	11: 96,165,651 (GRCm39)	M240K	probably damaging	Het
Irf2	T	C	8: 47,260,788 (GRCm39)		probably null	Het
Lgi4	A	G	7: 30,766,688 (GRCm39)		probably null	Het
Mylk3	C	T	8: 86,081,805 (GRCm39)	V328M	probably benign	Het
Nf2	T	C	11: 4,798,873 (GRCm39)	E38G	probably null	Het
Or4k40	A	C	2: 111,250,657 (GRCm39)	L213R	probably damaging	Het
Or51l14	A	T	7: 103,100,978 (GRCm39)	K145*	probably null	Het
Pdpk1	A	G	17: 24,298,612 (GRCm39)	F346L	probably damaging	Het
Prex1	T	C	2: 166,419,806 (GRCm39)	Y1120C	probably damaging	Het
Rab3gap1	A	G	1: 127,865,237 (GRCm39)	T742A	probably benign	Het
Scai	A	T	2: 38,989,429 (GRCm39)	D401E	probably benign	Het
Scd1	T	C	19: 44,386,533 (GRCm39)	H298R	probably damaging	Het
Shld2	T	C	14: 33,990,235 (GRCm39)	R224G	probably benign	Het
Slc45a1	A	G	4: 150,723,176 (GRCm39)		probably benign	Het
Smim10l1	G	T	6: 133,082,471 (GRCm39)	R6L	probably damaging	Het
Spag5	T	G	11: 78,210,860 (GRCm39)	F921C	probably damaging	Het
Sun1	T	C	5: 139,227,186 (GRCm39)	S667P	probably damaging	Het
Tas2r124	A	G	6: 132,732,524 (GRCm39)	I278V	probably benign	Het
Thbs1	G	A	2: 117,943,999 (GRCm39)	D206N	probably benign	Het
Trim37	T	A	11: 87,058,256 (GRCm39)		probably benign	Het
Vcp	T	C	4: 42,988,728 (GRCm39)	T249A	possibly damaging	Het
Vmn2r103	A	G	17: 20,014,231 (GRCm39)	N341S	possibly damaging	Het
Zmat3	A	G	3: 32,399,732 (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
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
IGL03038:Cntnap3	APN	13	64,888,839 (GRCm39)	missense	possibly damaging	0.50
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

2015-04-16