Mutagenetix > Incidental Mutations

Incidental Mutation 'R7297:Cntnap1'

566755

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.440) question?

Stock #

R7297 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101170523-101190724 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101188634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1233 (T1233A)

Ref Sequence

ENSEMBL: ENSMUSP00000099398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103109] [ENSMUST00000107284] [ENSMUST00000107285]

AlphaFold

O54991

Predicted Effect

probably benign
Transcript: ENSMUST00000103109
AA Change: T1233A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: T1233A

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

probably benign
Transcript: ENSMUST00000107284

SMART Domains

Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	39	68	4.5e-21	PFAM
SANT	135	263	3.86e1	SMART
low complexity region	369	381	N/A	INTRINSIC
SANT	430	478	3.03e-4	SMART
CXC	556	593	8.14e-2	SMART
SET	613	734	7.34e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107285

SMART Domains

Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	42	71	5.1e-20	PFAM
SANT	138	266	3.86e1	SMART
low complexity region	372	384	N/A	INTRINSIC
SANT	433	481	3.03e-4	SMART
CXC	559	596	8.14e-2	SMART
SET	616	737	7.34e-39	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,442,076	D1400G	probably benign	Het
Abca6	C	T	11: 110,183,026		probably null	Het
Adh4	A	G	3: 138,429,140	I358M	possibly damaging	Het
Akap6	T	G	12: 52,887,364	D546E	probably benign	Het
Arap3	G	A	18: 37,973,563	A1409V	possibly damaging	Het
Arhgap22	C	T	14: 33,271,933	R68*	probably null	Het
Arhgef4	A	T	1: 34,807,192	D207V	probably damaging	Het
Asb15	A	G	6: 24,566,463	T472A	probably damaging	Het
Ascl1	A	T	10: 87,492,464	S209T	probably damaging	Het
Asxl1	T	C	2: 153,397,435	V382A	probably benign	Het
Atp11a	T	C	8: 12,806,774		probably null	Het
Calu	C	T	6: 29,356,555	R27*	probably null	Het
Cdh20	A	G	1: 104,970,873	T442A	probably benign	Het
Chrm3	T	A	13: 9,877,833	Q389L	probably benign	Het
Cwc15	G	A	9: 14,510,229	C197Y	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dennd3	C	T	15: 73,557,610	T914I	probably damaging	Het
Dlx3	C	A	11: 95,120,450	Y43*	probably null	Het
Dnah17	A	T	11: 118,055,730		probably null	Het
Dnah17	A	G	11: 118,103,356	F1081S	probably damaging	Het
Dpp10	G	A	1: 123,353,428	Q631*	probably null	Het
Dsel	T	A	1: 111,861,776	D343V	probably damaging	Het
Efcab12	T	C	6: 115,811,036	D655G	possibly damaging	Het
Epha8	T	A	4: 136,945,913	I187L	probably damaging	Het
Exosc10	A	G	4: 148,580,377	K781E	probably damaging	Het
Exosc5	T	C	7: 25,666,326	L200P	probably benign	Het
Faiml	T	C	9: 99,229,613	E131G	probably damaging	Het
Gm13723	A	T	2: 86,873,636	V29E	probably damaging	Het
Gm5145	G	A	17: 20,570,731	V124I	probably benign	Het
Grm7	T	C	6: 110,646,013	V49A	probably benign	Het
Gtf2e1	T	C	16: 37,536,065	D35G	probably damaging	Het
Heatr1	C	T	13: 12,421,060	Q1160*	probably null	Het
Herc2	T	A	7: 56,136,658	C1584S	probably benign	Het
Hsd17b3	T	C	13: 64,076,351	I88V	probably damaging	Het
Hspa14	A	C	2: 3,498,142	L205R	possibly damaging	Het
Ifna11	A	C	4: 88,820,425	E156A	possibly damaging	Het
Krt83	T	C	15: 101,489,647	D170G	probably benign	Het
Mas1	T	C	17: 12,841,858	Y226C	probably damaging	Het
Micall1	T	C	15: 79,120,897	F190L	unknown	Het
Msi2	A	T	11: 88,480,038	L141Q	probably damaging	Het
Nfkbib	T	C	7: 28,766,343	D27G	probably benign	Het
Nlrp9b	A	G	7: 20,049,513	D927G	possibly damaging	Het
Nrg3	T	C	14: 38,370,939	D579G	probably benign	Het
Nutm1	G	A	2: 112,250,056	R505C	probably damaging	Het
Olfr26	G	A	9: 38,855,949	D296N	probably damaging	Het
Parp4	C	T	14: 56,647,681	P1406S	not run	Het
Pkib	A	T	10: 57,736,326	Q101L	possibly damaging	Het
Plat	C	T	8: 22,775,697	T252I	probably benign	Het
Ppm1d	A	T	11: 85,345,995	E533D	probably damaging	Het
Psd3	T	C	8: 68,121,034	K165R	probably damaging	Het
Psg29	T	A	7: 17,210,691	Y375*	probably null	Het
Pus7	A	T	5: 23,741,910	I644N	probably damaging	Het
Rbbp9	A	T	2: 144,543,802	M181K	probably benign	Het
Rell1	A	T	5: 63,936,075	N112K	possibly damaging	Het
Simc1	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	13: 54,525,235		probably benign	Het
Skint5	G	A	4: 113,542,934	T1184M	unknown	Het
Slc27a2	T	A	2: 126,578,946	D452E	probably damaging	Het
Slc44a4	T	A	17: 34,927,912	I489N	probably damaging	Het
Slfn14	T	A	11: 83,278,995	K608*	probably null	Het
Snx15	T	A	19: 6,120,507	I301F	probably damaging	Het
Sost	C	T	11: 101,964,103	G127R	probably damaging	Het
Stt3b	A	G	9: 115,276,957	I150T	probably damaging	Het
Susd2	T	C	10: 75,642,568	D58G	probably benign	Het
Tex46	T	G	4: 136,612,901	V99G	probably damaging	Het
Tgfbi	T	A	13: 56,632,113	F492I	possibly damaging	Het
Tmem132c	G	A	5: 127,360,217	A257T	probably benign	Het
Trim2	A	T	3: 84,210,233	I51K	probably damaging	Het
Tsn	A	T	1: 118,300,861	Y210*	probably null	Het
Umodl1	G	A	17: 31,008,665	R1324H	probably benign	Het
Utp3	G	C	5: 88,554,517		probably benign	Het
Vmn1r5	A	T	6: 56,986,219	N293I	possibly damaging	Het
Vmn2r124	A	T	17: 18,073,573	I641F	probably damaging	Het
Vmn2r84	T	C	10: 130,391,250	N240D	probably benign	Het
Wbp1l	A	G	19: 46,654,400	D264G	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
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
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
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'- AAGGCTTCTCTGGGTGAACC -3'
(R):5'- ATCCGTCGTCATGGTAGTATGG -3'

Sequencing Primer
(F):5'- GGTGAACCCTGATACCTCTTTC -3'
(R):5'- TGATTAAGAGCCGCTGCCTCTG -3'

Posted On

2019-06-26