Mutagenetix > Incidental Mutation

Incidental Mutation 'R1584:Cntnap1'

177364

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

039621-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.414) question?

Stock #

R1584 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

101170523-101190724 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101180360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 366 (F366L)

Ref Sequence

ENSEMBL: ENSMUSP00000099398 (fasta)

Gene Model

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

AlphaFold

O54991

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 damaging
Transcript: ENSMUST00000103109
AA Change: F366L

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

SMART Domains

Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: F366L

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

0.6678

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.2%

Validation Efficiency

99% (106/107)

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
Abhd15	C	T	11: 77,515,410	A71V	probably damaging	Het
Ager	A	G	17: 34,600,718	E357G	probably damaging	Het
Akap13	T	C	7: 75,729,049	S2095P	possibly damaging	Het
Ampd2	T	C	3: 108,080,337		probably null	Het
Arrdc1	T	C	2: 24,925,795	I398V	probably benign	Het
Ash1l	T	C	3: 89,052,065	Y2250H	probably damaging	Het
BC005561	T	A	5: 104,518,257	I215N	probably damaging	Het
Brca2	G	A	5: 150,552,258	A2478T	probably damaging	Het
Btrc	T	A	19: 45,513,382		probably benign	Het
C8g	C	T	2: 25,500,216	A6T	probably benign	Het
Cdc123	T	A	2: 5,803,977		probably null	Het
Cilp	G	A	9: 65,279,715	G1031S	probably damaging	Het
Cldn5	G	A	16: 18,777,477	G161D	probably damaging	Het
Cndp2	G	A	18: 84,677,315		probably benign	Het
Corin	C	T	5: 72,302,790		probably null	Het
Ctdspl2	G	A	2: 122,003,929	R332K	probably benign	Het
Dido1	G	A	2: 180,662,328	P1261L	probably damaging	Het
Dopey1	A	T	9: 86,548,172	R2200*	probably null	Het
Dtx3l	G	A	16: 35,932,728	L503F	probably damaging	Het
Dysf	A	G	6: 84,067,047	K259R	probably benign	Het
Enpep	T	A	3: 129,319,448	T203S	probably damaging	Het
Epha2	T	A	4: 141,322,047		probably null	Het
Fam20b	T	C	1: 156,686,188		probably benign	Het
Fbln7	A	G	2: 128,877,429	T49A	probably benign	Het
Fgf14	T	A	14: 124,676,539	K60M	probably benign	Het
Fhad1	T	C	4: 141,985,511	I206V	probably benign	Het
Figla	A	G	6: 86,020,782	E164G	probably benign	Het
Gimap4	C	A	6: 48,691,282	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964	T6I	probably damaging	Het
Gm6583	C	T	5: 112,354,764	G358D	probably benign	Het
Grk4	T	C	5: 34,694,750	S113P	probably benign	Het
Hectd3	G	A	4: 116,996,566	E220K	probably damaging	Het
Hecw1	A	G	13: 14,340,743		probably null	Het
Helz2	G	A	2: 181,236,297	P903S	probably damaging	Het
Hydin	T	C	8: 110,580,815	V3942A	probably benign	Het
Irs1	G	T	1: 82,289,444	H350Q	probably benign	Het
Kdm1b	G	A	13: 47,064,054	E46K	probably damaging	Het
Klf11	A	G	12: 24,655,305	N253D	probably damaging	Het
Klhl23	T	C	2: 69,833,888	I527T	probably damaging	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,668,576	P166L	probably damaging	Het
Letmd1	T	A	15: 100,472,542		probably null	Het
Lilra6	T	A	7: 3,912,662	D358V	probably damaging	Het
Mmrn2	A	G	14: 34,375,685	D24G	probably benign	Het
Mpp5	A	G	12: 78,829,727	I482V	probably benign	Het
Mroh2b	G	T	15: 4,925,684	D720Y	probably damaging	Het
Mrps35	C	T	6: 147,055,984	T169M	probably damaging	Het
Muc4	G	A	16: 32,753,595	G1157D	probably benign	Het
Naga	T	A	15: 82,334,788	M237L	probably null	Het
Nfu1	G	A	6: 87,020,809	E225K	probably damaging	Het
Nin	A	T	12: 70,042,669	L1324Q	probably benign	Het
Oc90	T	A	15: 65,897,720	Y96F	probably damaging	Het
Olfr1029	T	A	2: 85,975,995	F251I	probably damaging	Het
Olfr1253	C	T	2: 89,752,267	C187Y	probably damaging	Het
Olfr1471	T	C	19: 13,445,659	Y216H	probably damaging	Het
Olfr25	G	A	9: 38,330,131	M181I	possibly damaging	Het
Olfr522	A	G	7: 140,162,203	V249A	probably damaging	Het
Orc4	A	T	2: 48,909,494	C324S	possibly damaging	Het
Pdzrn4	T	C	15: 92,770,537	S857P	probably benign	Het
Plec	C	T	15: 76,185,908	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,508,481	V149D	probably benign	Het
Pm20d2	A	T	4: 33,174,772	N371K	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,684	Y480H	probably benign	Het
Prkd1	A	T	12: 50,425,515	V205E	probably damaging	Het
R3hdm2	A	G	10: 127,476,690	I434V	probably benign	Het
Rel	T	A	11: 23,745,546	T246S	probably damaging	Het
Rnf215	T	A	11: 4,136,719	V172E	probably damaging	Het
Scara3	T	C	14: 65,921,104	D485G	probably damaging	Het
Sec16a	A	T	2: 26,431,157	Y1308N	probably damaging	Het
Sis	A	T	3: 72,932,060	D824E	possibly damaging	Het
Slc27a4	T	A	2: 29,811,190	V331E	probably damaging	Het
Srebf1	C	T	11: 60,200,702	R999H	probably benign	Het
St3gal3	A	C	4: 118,107,662	M1R	probably null	Het
Tapbp	C	T	17: 33,919,940		probably null	Het
Tep1	A	T	14: 50,866,037	N265K	probably damaging	Het
Tln2	T	A	9: 67,296,414	N470I	probably damaging	Het
Trim43a	G	T	9: 88,588,158	W339L	probably damaging	Het
Ttc22	T	C	4: 106,622,780	F77S	probably damaging	Het
Ttc8	A	G	12: 98,920,764	E32G	probably benign	Het
Uhmk1	A	T	1: 170,208,653		probably null	Het
Usp17lc	A	G	7: 103,418,941	H481R	possibly damaging	Het
Vamp8	G	A	6: 72,385,634	T35M	probably damaging	Het
Vill	A	G	9: 119,065,586	Y53C	probably damaging	Het
Vmn1r222	A	T	13: 23,232,762	S94T	probably damaging	Het
Vmn2r93	A	G	17: 18,305,151	Y357C	possibly damaging	Het
Vps13c	T	A	9: 67,893,112	V536D	possibly damaging	Het
Vrtn	G	A	12: 84,650,081	C535Y	probably damaging	Het
Vwa3a	A	G	7: 120,768,165	Y181C	probably damaging	Het
Wfikkn2	G	A	11: 94,238,895	T140I	probably damaging	Het
Ykt6	T	A	11: 5,962,349	F101I	probably damaging	Het
Zfp277	C	T	12: 40,378,826	G174D	probably benign	Het
Zfp638	A	G	6: 83,978,065		probably null	Het
Zzef1	C	T	11: 72,924,679	P2942S	probably 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
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
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
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
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
R9689:Cntnap1	UTSW	11	101181352	missense	probably damaging	0.98
R9697:Cntnap1	UTSW	11	101178002	missense	possibly damaging	0.51
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'- TGGGCATATTTGCACAGGGAATGG -3'
(R):5'- AACTGGCAAGCATCTTCAGGACC -3'

Sequencing Primer
(F):5'- ATGGAAGGACCACAGTTGG -3'
(R):5'- TCTGCGCGATGGATACATTC -3'

Posted On

2014-04-24