Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02281:Cntnap1'

289826

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntnap1

Ensembl Gene

ENSMUSG00000017167

Gene Name

contactin associated protein-like 1

Synonyms

Nrxn4, Caspr, NCP1, p190, paranodin, shm

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.519) question?

Stock #

IGL02281

Quality Score

Status

Chromosome

Chromosomal Location

101170523-101190724 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101182254 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 561 (D561E)

Ref Sequence

ENSEMBL: ENSMUSP00000099398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103109]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103109
AA Change: D561E

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: D561E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
FA58C	25	169	7.49e-36	SMART
LamG	196	333	2.86e-32	SMART
LamG	382	516	3.49e-27	SMART
EGF	544	578	2.28e0	SMART
Blast:FBG	580	777	1e-133	BLAST
LamG	806	940	1.95e-25	SMART
EGF_like	961	997	6.03e1	SMART
low complexity region	1032	1044	N/A	INTRINSIC
low complexity region	1047	1058	N/A	INTRINSIC
low complexity region	1063	1078	N/A	INTRINSIC
LamG	1081	1219	2.59e-30	SMART
4.1m	1305	1323	7.85e-7	SMART
low complexity region	1333	1370	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138942

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mutant mice exhibit reduced body size and nervous system defects, including impaired balance, hypoactivity, and ataxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	T	C	8: 105,567,154	E60G	probably benign	Het
Aldh3a1	T	G	11: 61,217,123		probably null	Het
Bach2	T	C	4: 32,562,513	C327R	possibly damaging	Het
Bcam	C	T	7: 19,758,691	G523D	probably damaging	Het
Bmpr2	T	A	1: 59,868,344	D865E	probably damaging	Het
Calm1	A	T	12: 100,205,624	I112F	probably damaging	Het
Ceacam3	T	C	7: 17,161,731	V542A	probably benign	Het
Clec5a	A	T	6: 40,584,402	D36E	probably benign	Het
Clspn	T	A	4: 126,565,770	C321S	possibly damaging	Het
Cmtr1	T	A	17: 29,691,281	D453E	probably benign	Het
Cul5	A	G	9: 53,635,049	V137A	possibly damaging	Het
Cyp2b9	A	G	7: 26,201,104	Y389C	probably damaging	Het
Ddi2	A	G	4: 141,692,419	V340A	probably benign	Het
Etv4	T	C	11: 101,773,719	Y235C	probably damaging	Het
Gm3099	G	A	14: 4,001,257		probably benign	Het
Gpsm1	T	A	2: 26,339,626		probably benign	Het
Idh2	A	G	7: 80,095,802		probably null	Het
Kit	G	A	5: 75,654,534	E973K	possibly damaging	Het
Lilra5	A	G	7: 4,238,783	I194V	probably benign	Het
Lrp6	A	C	6: 134,457,734	N1335K	probably benign	Het
Map9	G	A	3: 82,391,146	E613K	possibly damaging	Het
Mroh2b	G	A	15: 4,952,263	A1519T	probably benign	Het
Nefm	A	G	14: 68,124,464	V117A	probably damaging	Het
Nr2c2	T	A	6: 92,154,514	S186T	probably benign	Het
Pde2a	G	A	7: 101,481,392	A80T	probably benign	Het
Plcd1	A	T	9: 119,074,773	C334S	probably benign	Het
Pomt1	T	C	2: 32,248,646	S425P	possibly damaging	Het
Pspc1	G	T	14: 56,723,178	P497T	probably benign	Het
Rnf123	G	A	9: 108,071,452	P58L	probably benign	Het
Rph3a	T	C	5: 120,948,833	T435A	probably damaging	Het
Rsbn1	T	C	3: 103,962,461	L746P	probably damaging	Het
Sfrp2	A	G	3: 83,773,139	E202G	possibly damaging	Het
Slc25a38	T	C	9: 120,117,532	S111P	probably damaging	Het
Tfcp2l1	T	C	1: 118,669,380		probably benign	Het
Tonsl	A	T	15: 76,634,074	L566H	probably damaging	Het
Tsc1	C	A	2: 28,663,595	D153E	probably damaging	Het
Vmn2r37	A	T	7: 9,217,882	H327Q	possibly damaging	Het

Other mutations in Cntnap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Cntnap1	APN	11	101185092	missense	possibly damaging	0.63
IGL00715:Cntnap1	APN	11	101183205	splice site	probably benign
IGL00792:Cntnap1	APN	11	101178966	missense	probably benign	0.19
IGL01063:Cntnap1	APN	11	101181788	missense	probably benign	0.00
IGL01141:Cntnap1	APN	11	101178807	splice site	probably benign
IGL02184:Cntnap1	APN	11	101178365	missense	probably damaging	0.98
IGL02272:Cntnap1	APN	11	101178316	missense	probably damaging	0.99
IGL02437:Cntnap1	APN	11	101186851	missense	probably damaging	1.00
IGL02456:Cntnap1	APN	11	101178129	missense	probably benign	0.31
IGL02966:Cntnap1	APN	11	101184749	missense	probably damaging	1.00
IGL03126:Cntnap1	APN	11	101176301	missense	probably benign	0.00
IGL03294:Cntnap1	APN	11	101181682	missense	possibly damaging	0.94
Penny	UTSW	11	101186764	missense	probably damaging	0.99
FR4304:Cntnap1	UTSW	11	101189581	unclassified	probably benign
FR4304:Cntnap1	UTSW	11	101189589	unclassified	probably benign
FR4342:Cntnap1	UTSW	11	101189575	unclassified	probably benign
FR4449:Cntnap1	UTSW	11	101189569	unclassified	probably benign
FR4449:Cntnap1	UTSW	11	101189593	unclassified	probably benign
FR4548:Cntnap1	UTSW	11	101189572	unclassified	probably benign
FR4548:Cntnap1	UTSW	11	101189579	unclassified	probably benign
FR4548:Cntnap1	UTSW	11	101189593	unclassified	probably benign
FR4548:Cntnap1	UTSW	11	101189594	unclassified	probably benign
FR4589:Cntnap1	UTSW	11	101189566	unclassified	probably benign
FR4589:Cntnap1	UTSW	11	101189575	unclassified	probably benign
FR4589:Cntnap1	UTSW	11	101189580	unclassified	probably benign
FR4589:Cntnap1	UTSW	11	101189581	unclassified	probably benign
FR4737:Cntnap1	UTSW	11	101189569	unclassified	probably benign
FR4737:Cntnap1	UTSW	11	101189576	unclassified	probably benign
FR4737:Cntnap1	UTSW	11	101189582	unclassified	probably benign
FR4737:Cntnap1	UTSW	11	101189590	unclassified	probably benign
FR4976:Cntnap1	UTSW	11	101189569	unclassified	probably benign
FR4976:Cntnap1	UTSW	11	101189572	unclassified	probably benign
FR4976:Cntnap1	UTSW	11	101189585	unclassified	probably benign
FR4976:Cntnap1	UTSW	11	101189588	unclassified	probably benign
R0329:Cntnap1	UTSW	11	101188309	missense	probably damaging	1.00
R0556:Cntnap1	UTSW	11	101183996	missense	probably benign
R0586:Cntnap1	UTSW	11	101187014	missense	probably damaging	0.97
R0635:Cntnap1	UTSW	11	101183459	missense	probably benign	0.05
R0789:Cntnap1	UTSW	11	101181384	splice site	probably benign
R1016:Cntnap1	UTSW	11	101177507	missense	probably damaging	0.99
R1085:Cntnap1	UTSW	11	101178836	missense	probably benign	0.02
R1211:Cntnap1	UTSW	11	101184710	missense	probably damaging	1.00
R1466:Cntnap1	UTSW	11	101180360	missense	probably damaging	1.00
R1466:Cntnap1	UTSW	11	101180360	missense	probably damaging	1.00
R1584:Cntnap1	UTSW	11	101180360	missense	probably damaging	1.00
R1689:Cntnap1	UTSW	11	101188873	unclassified	probably null
R1758:Cntnap1	UTSW	11	101184623	missense	probably damaging	1.00
R1779:Cntnap1	UTSW	11	101186511	missense	probably damaging	0.99
R1964:Cntnap1	UTSW	11	101178024	nonsense	probably null
R1966:Cntnap1	UTSW	11	101180386	missense	possibly damaging	0.89
R2070:Cntnap1	UTSW	11	101182979	missense	probably damaging	1.00
R2088:Cntnap1	UTSW	11	101182547	missense	probably damaging	1.00
R2118:Cntnap1	UTSW	11	101188657	missense	probably benign
R3795:Cntnap1	UTSW	11	101186764	missense	probably damaging	0.99
R4375:Cntnap1	UTSW	11	101182253	missense	probably damaging	1.00
R4779:Cntnap1	UTSW	11	101178072	missense	possibly damaging	0.91
R4832:Cntnap1	UTSW	11	101183019	missense	probably damaging	1.00
R4965:Cntnap1	UTSW	11	101177425	missense	possibly damaging	0.52
R4981:Cntnap1	UTSW	11	101176333	splice site	probably null
R5008:Cntnap1	UTSW	11	101188741	nonsense	probably null
R5399:Cntnap1	UTSW	11	101183316	missense	probably benign
R5507:Cntnap1	UTSW	11	101183477	missense	probably benign	0.42
R5560:Cntnap1	UTSW	11	101182435	missense	probably damaging	1.00
R5589:Cntnap1	UTSW	11	101185118	missense	probably benign
R6038:Cntnap1	UTSW	11	101184636	missense	probably benign	0.12
R6038:Cntnap1	UTSW	11	101184636	missense	probably benign	0.12
R6242:Cntnap1	UTSW	11	101182538	missense	probably damaging	1.00
R6306:Cntnap1	UTSW	11	101184615	missense	probably damaging	1.00
R6392:Cntnap1	UTSW	11	101186646	missense	probably damaging	1.00
R6803:Cntnap1	UTSW	11	101177234	missense	possibly damaging	0.81
R6939:Cntnap1	UTSW	11	101186511	missense	probably damaging	0.99
R6944:Cntnap1	UTSW	11	101182904	missense	probably damaging	0.97

Posted On

2015-04-16