Mutagenetix > Incidental Mutations

Incidental Mutation 'R4981:Cntnap1'

384855

Institutional Source

Beutler Lab

Gene Symbol

Cntnap1

Ensembl Gene

ENSMUSG00000017167

Gene Name

contactin associated protein-like 1

Synonyms

Nrxn4, Caspr, NCP1, p190, paranodin, shm

MMRRC Submission

042576-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.568) question?

Stock #

R4981 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

101170523-101190724 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 101176333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043397] [ENSMUST00000062759] [ENSMUST00000103109]

AlphaFold

O54991

Predicted Effect

probably benign
Transcript: ENSMUST00000043397

SMART Domains

Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	23	40	N/A	INTRINSIC
PH	96	201	1.9e-5	SMART
low complexity region	241	251	N/A	INTRINSIC
Pfam:MyTH4	285	398	4.2e-21	PFAM
B41	400	664	2.91e-4	SMART
low complexity region	750	766	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062759

SMART Domains

Protein: ENSMUSP00000062588
Gene: ENSMUSG00000044052

Domain	Start	End	E-Value	Type
Pfam:7tm_1	58	310	4.8e-43	PFAM
low complexity region	313	329	N/A	INTRINSIC
low complexity region	336	349	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000103109

SMART Domains

Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (105/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,048,987		probably null	Het
Aatf	T	C	11: 84,511,497	D121G	probably benign	Het
Amer2	T	A	14: 60,379,727	L331H	probably damaging	Het
Ang4	T	G	14: 51,764,372	K40Q	probably benign	Het
Aspm	A	C	1: 139,470,760		probably null	Het
Cacna1c	A	T	6: 118,751,471	D337E	probably benign	Het
Ccdc124	T	C	8: 70,868,785	E134G	probably benign	Het
Ccdc7a	G	T	8: 128,984,983	A312E	probably benign	Het
Ccdc84	A	T	9: 44,417,948	F14Y	probably damaging	Het
Cd209g	A	G	8: 4,136,845	D130G	probably damaging	Het
Cd320	T	C	17: 33,847,575	S96P	probably benign	Het
Clu	C	G	14: 65,973,366	Q134E	probably damaging	Het
Cnksr3	T	A	10: 7,160,777	H28L	probably benign	Het
Col22a1	C	T	15: 71,861,066	C546Y	unknown	Het
Col6a3	C	T	1: 90,778,843	V2183I	unknown	Het
Cop1	A	G	1: 159,325,068		probably benign	Het
Cpne8	T	C	15: 90,679,235	I24V	probably benign	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Dennd5b	G	A	6: 149,009,772	L978F	possibly damaging	Het
Depdc1a	G	T	3: 159,523,913	M627I	probably benign	Het
Dnah3	A	T	7: 119,956,201	N2721K	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dsg1b	A	G	18: 20,408,868	T811A	possibly damaging	Het
Emilin1	C	G	5: 30,919,351	Q847E	probably benign	Het
Epha3	A	T	16: 63,652,412	V370D	probably benign	Het
Epha5	T	A	5: 84,150,483	T406S	probably damaging	Het
Ephb1	A	T	9: 102,040,960	I450N	probably benign	Het
Ephb2	A	G	4: 136,696,010	M319T	probably benign	Het
Eps15l1	A	G	8: 72,378,989		probably null	Het
Fbxo9	G	A	9: 78,085,886		probably benign	Het
Fgd5	T	C	6: 91,989,300	I838T	probably damaging	Het
Fnbp4	T	C	2: 90,765,830	F582L	probably damaging	Het
Frs3	T	C	17: 47,689,262		probably null	Het
Fscb	C	T	12: 64,473,619	V358I	possibly damaging	Het
Fus	G	T	7: 127,967,555		probably benign	Het
Fyb	CCTCTCTCTCTCTCTCTCTCT	CCTCTCTCTCTCTCTCTCT	15: 6,646,611		probably benign	Het
Glra3	A	T	8: 55,991,235	I77F	possibly damaging	Het
Gm4454	C	T	7: 38,570,436		noncoding transcript	Het
Gng3	G	A	19: 8,838,261	A37V	possibly damaging	Het
Grin3b	T	A	10: 79,976,357		probably benign	Het
Herpud1	A	G	8: 94,391,794	Y41C	probably damaging	Het
Igkv4-92	G	C	6: 68,755,044	S115R	possibly damaging	Het
Ikbip	T	A	10: 91,095,986	I164N	probably benign	Het
Kank1	A	G	19: 25,411,395	T783A	probably benign	Het
Kcnq3	A	T	15: 66,031,405	V152E	possibly damaging	Het
Kif23	C	T	9: 61,931,871	R314H	probably damaging	Het
Klc4	T	C	17: 46,644,361	H49R	probably benign	Het
Klhl20	A	T	1: 161,103,005	I309N	possibly damaging	Het
Lgals4	A	G	7: 28,841,276	Y268C	probably damaging	Het
Lingo4	A	G	3: 94,399,454	Q13R	probably benign	Het
Lmtk2	C	A	5: 144,176,447	F1328L	probably damaging	Het
Mapk14	A	G	17: 28,741,791	R179G	probably damaging	Het
Mbd3l1	A	T	9: 18,484,905	T109S	probably benign	Het
Megf6	T	C	4: 154,267,450	F1169L	possibly damaging	Het
Mrgpra1	A	T	7: 47,335,211	V240D	probably damaging	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Myh1	T	C	11: 67,224,474		probably benign	Het
Nav3	T	C	10: 109,880,692	I172V	probably benign	Het
Nemp1	T	A	10: 127,693,530	L178Q	probably damaging	Het
Numa1	T	C	7: 101,992,674	S110P	probably damaging	Het
Olfr1076	T	C	2: 86,508,827	Y123H	probably damaging	Het
Olfr1222	T	C	2: 89,125,501	T77A	probably benign	Het
Olfr1248	A	G	2: 89,617,425	Y256H	probably damaging	Het
Olfr1500	A	T	19: 13,828,094	F101I	probably damaging	Het
Olfr639	A	G	7: 104,012,105	I199T	probably damaging	Het
Olfr995	A	G	2: 85,438,469	S230P	probably damaging	Het
Pard3b	T	G	1: 62,344,060	M771R	probably damaging	Het
Phkg2	A	G	7: 127,582,379	I245V	probably damaging	Het
Pik3cg	A	T	12: 32,204,104	M628K	possibly damaging	Het
Poln	A	G	5: 34,107,085		probably null	Het
Ppip5k1	A	T	2: 121,312,390	S1172T	probably damaging	Het
Prdm5	A	T	6: 65,870,462	H363L	probably damaging	Het
Prkdc	A	G	16: 15,678,309	Y788C	probably damaging	Het
Prrc2c	T	A	1: 162,692,547	R2076S	probably damaging	Het
Sh2d2a	A	G	3: 87,849,421	Y191C	probably damaging	Het
Slc20a1	T	C	2: 129,199,999	I94T	probably damaging	Het
Sptbn2	T	C	19: 4,751,658	V2366A	probably benign	Het
Stab2	T	A	10: 86,960,223	M387L	probably benign	Het
Syne2	T	G	12: 75,941,219	M1718R	probably damaging	Het
Synm	G	T	7: 67,734,487	F700L	probably benign	Het
Tmco4	T	C	4: 138,990,701	F51L	possibly damaging	Het
Tmem104	C	A	11: 115,205,136	P168T	probably damaging	Het
Tril	G	T	6: 53,818,920	T439K	probably benign	Het
Trim2	A	G	3: 84,177,735	L559P	probably damaging	Het
Trim3	A	G	7: 105,619,128	V149A	probably damaging	Het
Triml2	A	G	8: 43,187,680	N191S	probably benign	Het
Usp4	A	G	9: 108,381,418	D16G	probably benign	Het
Vmn2r58	G	A	7: 41,837,461	T670I	probably damaging	Het
Vmn2r97	G	T	17: 18,940,174	G524*	probably null	Het
Xpo5	C	A	17: 46,220,817	F426L	probably damaging	Het
Zfp800	A	G	6: 28,247,191	L84S	probably damaging	Het
Zranb2	T	G	3: 157,546,741		probably benign	Het
Zswim4	C	T	8: 84,226,667		probably null	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
IGL02281:Cntnap1	APN	11	101182254	missense	possibly damaging	0.86
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
PIT4354001:Cntnap1	UTSW	11	101181297	missense	probably damaging	1.00
PIT4466001:Cntnap1	UTSW	11	101177305	missense	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	splice site	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
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
R7152:Cntnap1	UTSW	11	101177326	missense	probably damaging	1.00
R7297:Cntnap1	UTSW	11	101188634	missense	probably benign	0.01
R7347:Cntnap1	UTSW	11	101185268	missense	probably damaging	1.00
R7961:Cntnap1	UTSW	11	101178295	missense	probably benign
R7980:Cntnap1	UTSW	11	101188893	missense	probably benign
R8307:Cntnap1	UTSW	11	101188876	missense	possibly damaging	0.73
R8386:Cntnap1	UTSW	11	101182203	missense	probably damaging	1.00
R8403:Cntnap1	UTSW	11	101177590	missense	probably damaging	1.00
R8826:Cntnap1	UTSW	11	101186829	missense	probably damaging	0.99
R9103:Cntnap1	UTSW	11	101181268	missense	probably benign	0.06
R9279:Cntnap1	UTSW	11	101181295	missense	probably damaging	0.99
R9284:Cntnap1	UTSW	11	101177311	missense	probably benign
R9386:Cntnap1	UTSW	11	101185226	missense	probably damaging	1.00
RF042:Cntnap1	UTSW	11	101180305	critical splice acceptor site	probably benign
RF048:Cntnap1	UTSW	11	101180305	critical splice acceptor site	probably benign
RF048:Cntnap1	UTSW	11	101189563	unclassified	probably benign
RF049:Cntnap1	UTSW	11	101189592	unclassified	probably benign
RF049:Cntnap1	UTSW	11	101189596	unclassified	probably benign
RF050:Cntnap1	UTSW	11	101189592	unclassified	probably benign
Z1176:Cntnap1	UTSW	11	101182898	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAAGCTTTGGTCAGCCGTG -3'
(R):5'- CTGGTTCCTCAGATCAGAGATC -3'

Sequencing Primer
(F):5'- TTTGGTCAGCCGTGAACCC -3'
(R):5'- GGTTCCTCAGATCAGAGATCAGCAC -3'

Posted On

2016-05-10