Mutagenetix > Incidental Mutation

Incidental Mutation 'R6392:Cntnap1'

515819

Institutional Source

Beutler Lab

Gene Symbol

Cntnap1

Ensembl Gene

ENSMUSG00000017167

Gene Name

contactin associated protein-like 1

Synonyms

Nrxn4, NCP1, Caspr, paranodin, p190, shm

MMRRC Submission

044541-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.496) question?

Stock #

R6392 (G1)

Quality Score

214.009

Status

Validated

Chromosome

Chromosomal Location

101065429-101081550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101077472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 1045 (D1045Y)

Ref Sequence

ENSEMBL: ENSMUSP00000099398 (fasta)

Gene Model

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

AlphaFold

O54991

Predicted Effect

probably damaging
Transcript: ENSMUST00000103109
AA Change: D1045Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: D1045Y

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: 99.8%
10x: 98.9%
20x: 96.1%

Validation Efficiency

96% (47/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,825,526 (GRCm39)	I330F	probably damaging	Het
Abcc9	A	G	6: 142,627,825 (GRCm39)	S402P	probably damaging	Het
Ada	A	G	2: 163,570,137 (GRCm39)	L292P	probably damaging	Het
Adam34l	A	T	8: 44,079,038 (GRCm39)	N395K	probably benign	Het
Adra1d	T	C	2: 131,403,529 (GRCm39)	D187G	probably damaging	Het
AI467606	C	A	7: 126,691,717 (GRCm39)	Y97*	probably null	Het
Arid2	A	G	15: 96,259,483 (GRCm39)	E245G	probably damaging	Het
Ccdc78	C	G	17: 26,007,148 (GRCm39)	Q213E	probably damaging	Het
Ctcf	T	C	8: 106,390,765 (GRCm39)	V124A	probably damaging	Het
Cutc	T	C	19: 43,748,489 (GRCm39)	S129P	possibly damaging	Het
Dhx36	T	C	3: 62,401,790 (GRCm39)	I308V	probably benign	Het
Disp2	T	C	2: 118,621,230 (GRCm39)	V654A	probably damaging	Het
Esm1	G	A	13: 113,346,283 (GRCm39)		probably benign	Het
Extl1	C	T	4: 134,091,945 (GRCm39)	V303I	probably benign	Het
Ezh1	G	T	11: 101,094,630 (GRCm39)	D387E	probably damaging	Het
Fbf1	T	A	11: 116,043,775 (GRCm39)		probably null	Het
Fbxl12	T	C	9: 20,550,472 (GRCm39)	H84R	probably damaging	Het
Fbxo6	C	T	4: 148,230,462 (GRCm39)	V267I	probably benign	Het
Helz	G	T	11: 107,493,167 (GRCm39)	A197S	possibly damaging	Het
Ikbke	T	C	1: 131,202,883 (GRCm39)		probably null	Het
Kbtbd13	A	G	9: 65,297,619 (GRCm39)	F439S	possibly damaging	Het
Kif7	G	A	7: 79,351,934 (GRCm39)	R943W	probably damaging	Het
Lrp12	C	T	15: 39,735,415 (GRCm39)	C839Y	probably damaging	Het
Matr3	A	G	18: 35,717,894 (GRCm39)	D364G	probably benign	Het
Ncam1	T	C	9: 49,434,875 (GRCm39)	K624E	probably damaging	Het
Nup205	T	C	6: 35,166,820 (GRCm39)	S280P	possibly damaging	Het
Or4a66	A	T	2: 88,531,011 (GRCm39)	Y221N	probably damaging	Het
Or52a33	A	C	7: 103,288,889 (GRCm39)	C153G	probably benign	Het
Pira2	A	T	7: 3,846,901 (GRCm39)	S214T	possibly damaging	Het
Prss3b	T	C	6: 41,009,306 (GRCm39)	Y176C	probably damaging	Het
Ptpn4	T	A	1: 119,700,853 (GRCm39)	I30F	probably benign	Het
Rnf144a	T	C	12: 26,360,779 (GRCm39)	I253V	possibly damaging	Het
Sh3pxd2b	T	A	11: 32,373,302 (GRCm39)	L823Q	possibly damaging	Het
Sh3rf3	A	T	10: 58,842,898 (GRCm39)	D288V	probably damaging	Het
Shprh	T	A	10: 11,054,485 (GRCm39)	Y1031*	probably null	Het
Sidt1	T	C	16: 44,111,657 (GRCm39)	T173A	possibly damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Ssh3	C	T	19: 4,315,399 (GRCm39)	R309H	probably benign	Het
Tagap	G	T	17: 8,152,893 (GRCm39)	G693W	probably damaging	Het
Tango2	T	A	16: 18,119,403 (GRCm39)	I143F	probably damaging	Het
Thsd7a	T	C	6: 12,468,928 (GRCm39)	H550R	probably damaging	Het
Tmem131	T	A	1: 36,920,423 (GRCm39)	Q92H	probably benign	Het
Tnfrsf21	T	C	17: 43,327,979 (GRCm39)	L31P	probably benign	Het
Ttn	A	T	2: 76,730,487 (GRCm39)		probably benign	Het
Ubash3b	T	C	9: 40,926,268 (GRCm39)	D493G	probably damaging	Het
Unc13a	C	T	8: 72,090,453 (GRCm39)	G1411D	possibly damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Zfc3h1	A	T	10: 115,237,653 (GRCm39)	R477S	probably damaging	Het
Zfp87	C	T	13: 67,664,986 (GRCm39)	R492K	probably benign	Het

Other mutations in Cntnap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Cntnap1	APN	11	101,075,918 (GRCm39)	missense	possibly damaging	0.63
IGL00715:Cntnap1	APN	11	101,074,031 (GRCm39)	splice site	probably benign
IGL00792:Cntnap1	APN	11	101,069,792 (GRCm39)	missense	probably benign	0.19
IGL01063:Cntnap1	APN	11	101,072,614 (GRCm39)	missense	probably benign	0.00
IGL01141:Cntnap1	APN	11	101,069,633 (GRCm39)	splice site	probably benign
IGL02184:Cntnap1	APN	11	101,069,191 (GRCm39)	missense	probably damaging	0.98
IGL02272:Cntnap1	APN	11	101,069,142 (GRCm39)	missense	probably damaging	0.99
IGL02281:Cntnap1	APN	11	101,073,080 (GRCm39)	missense	possibly damaging	0.86
IGL02437:Cntnap1	APN	11	101,077,677 (GRCm39)	missense	probably damaging	1.00
IGL02456:Cntnap1	APN	11	101,068,955 (GRCm39)	missense	probably benign	0.31
IGL02966:Cntnap1	APN	11	101,075,575 (GRCm39)	missense	probably damaging	1.00
IGL03126:Cntnap1	APN	11	101,067,127 (GRCm39)	missense	probably benign	0.00
IGL03294:Cntnap1	APN	11	101,072,508 (GRCm39)	missense	possibly damaging	0.94
Penny	UTSW	11	101,077,590 (GRCm39)	missense	probably damaging	0.99
FR4304:Cntnap1	UTSW	11	101,080,415 (GRCm39)	unclassified	probably benign
FR4304:Cntnap1	UTSW	11	101,080,407 (GRCm39)	unclassified	probably benign
FR4342:Cntnap1	UTSW	11	101,080,401 (GRCm39)	unclassified	probably benign
FR4449:Cntnap1	UTSW	11	101,080,419 (GRCm39)	unclassified	probably benign
FR4449:Cntnap1	UTSW	11	101,080,395 (GRCm39)	unclassified	probably benign
FR4548:Cntnap1	UTSW	11	101,080,419 (GRCm39)	unclassified	probably benign
FR4548:Cntnap1	UTSW	11	101,080,405 (GRCm39)	unclassified	probably benign
FR4548:Cntnap1	UTSW	11	101,080,398 (GRCm39)	unclassified	probably benign
FR4548:Cntnap1	UTSW	11	101,080,420 (GRCm39)	unclassified	probably benign
FR4589:Cntnap1	UTSW	11	101,080,401 (GRCm39)	unclassified	probably benign
FR4589:Cntnap1	UTSW	11	101,080,392 (GRCm39)	unclassified	probably benign
FR4589:Cntnap1	UTSW	11	101,080,407 (GRCm39)	unclassified	probably benign
FR4589:Cntnap1	UTSW	11	101,080,406 (GRCm39)	unclassified	probably benign
FR4737:Cntnap1	UTSW	11	101,080,416 (GRCm39)	unclassified	probably benign
FR4737:Cntnap1	UTSW	11	101,080,395 (GRCm39)	unclassified	probably benign
FR4737:Cntnap1	UTSW	11	101,080,402 (GRCm39)	unclassified	probably benign
FR4737:Cntnap1	UTSW	11	101,080,408 (GRCm39)	unclassified	probably benign
FR4976:Cntnap1	UTSW	11	101,080,414 (GRCm39)	unclassified	probably benign
FR4976:Cntnap1	UTSW	11	101,080,395 (GRCm39)	unclassified	probably benign
FR4976:Cntnap1	UTSW	11	101,080,398 (GRCm39)	unclassified	probably benign
FR4976:Cntnap1	UTSW	11	101,080,411 (GRCm39)	unclassified	probably benign
PIT4354001:Cntnap1	UTSW	11	101,072,123 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Cntnap1	UTSW	11	101,068,131 (GRCm39)	missense	probably benign
R0329:Cntnap1	UTSW	11	101,079,135 (GRCm39)	missense	probably damaging	1.00
R0556:Cntnap1	UTSW	11	101,074,822 (GRCm39)	missense	probably benign
R0586:Cntnap1	UTSW	11	101,077,840 (GRCm39)	missense	probably damaging	0.97
R0635:Cntnap1	UTSW	11	101,074,285 (GRCm39)	missense	probably benign	0.05
R0789:Cntnap1	UTSW	11	101,072,210 (GRCm39)	splice site	probably benign
R1016:Cntnap1	UTSW	11	101,068,333 (GRCm39)	missense	probably damaging	0.99
R1085:Cntnap1	UTSW	11	101,069,662 (GRCm39)	missense	probably benign	0.02
R1211:Cntnap1	UTSW	11	101,075,536 (GRCm39)	missense	probably damaging	1.00
R1466:Cntnap1	UTSW	11	101,071,186 (GRCm39)	missense	probably damaging	1.00
R1466:Cntnap1	UTSW	11	101,071,186 (GRCm39)	missense	probably damaging	1.00
R1584:Cntnap1	UTSW	11	101,071,186 (GRCm39)	missense	probably damaging	1.00
R1689:Cntnap1	UTSW	11	101,079,699 (GRCm39)	splice site	probably null
R1758:Cntnap1	UTSW	11	101,075,449 (GRCm39)	missense	probably damaging	1.00
R1779:Cntnap1	UTSW	11	101,077,337 (GRCm39)	missense	probably damaging	0.99
R1964:Cntnap1	UTSW	11	101,068,850 (GRCm39)	nonsense	probably null
R1966:Cntnap1	UTSW	11	101,071,212 (GRCm39)	missense	possibly damaging	0.89
R2070:Cntnap1	UTSW	11	101,073,805 (GRCm39)	missense	probably damaging	1.00
R2088:Cntnap1	UTSW	11	101,073,373 (GRCm39)	missense	probably damaging	1.00
R2118:Cntnap1	UTSW	11	101,079,483 (GRCm39)	missense	probably benign
R3795:Cntnap1	UTSW	11	101,077,590 (GRCm39)	missense	probably damaging	0.99
R4375:Cntnap1	UTSW	11	101,073,079 (GRCm39)	missense	probably damaging	1.00
R4779:Cntnap1	UTSW	11	101,068,898 (GRCm39)	missense	possibly damaging	0.91
R4832:Cntnap1	UTSW	11	101,073,845 (GRCm39)	missense	probably damaging	1.00
R4965:Cntnap1	UTSW	11	101,068,251 (GRCm39)	missense	possibly damaging	0.52
R4981:Cntnap1	UTSW	11	101,067,159 (GRCm39)	splice site	probably null
R5008:Cntnap1	UTSW	11	101,079,567 (GRCm39)	nonsense	probably null
R5399:Cntnap1	UTSW	11	101,074,142 (GRCm39)	missense	probably benign
R5507:Cntnap1	UTSW	11	101,074,303 (GRCm39)	missense	probably benign	0.42
R5560:Cntnap1	UTSW	11	101,073,261 (GRCm39)	missense	probably damaging	1.00
R5589:Cntnap1	UTSW	11	101,075,944 (GRCm39)	missense	probably benign
R6038:Cntnap1	UTSW	11	101,075,462 (GRCm39)	missense	probably benign	0.12
R6038:Cntnap1	UTSW	11	101,075,462 (GRCm39)	missense	probably benign	0.12
R6242:Cntnap1	UTSW	11	101,073,364 (GRCm39)	missense	probably damaging	1.00
R6306:Cntnap1	UTSW	11	101,075,441 (GRCm39)	missense	probably damaging	1.00
R6803:Cntnap1	UTSW	11	101,068,060 (GRCm39)	missense	possibly damaging	0.81
R6939:Cntnap1	UTSW	11	101,077,337 (GRCm39)	missense	probably damaging	0.99
R6944:Cntnap1	UTSW	11	101,073,730 (GRCm39)	missense	probably damaging	0.97
R7152:Cntnap1	UTSW	11	101,068,152 (GRCm39)	missense	probably damaging	1.00
R7297:Cntnap1	UTSW	11	101,079,460 (GRCm39)	missense	probably benign	0.01
R7347:Cntnap1	UTSW	11	101,076,094 (GRCm39)	missense	probably damaging	1.00
R7961:Cntnap1	UTSW	11	101,069,121 (GRCm39)	missense	probably benign
R7980:Cntnap1	UTSW	11	101,079,719 (GRCm39)	missense	probably benign
R8307:Cntnap1	UTSW	11	101,079,702 (GRCm39)	missense	possibly damaging	0.73
R8386:Cntnap1	UTSW	11	101,073,029 (GRCm39)	missense	probably damaging	1.00
R8403:Cntnap1	UTSW	11	101,068,416 (GRCm39)	missense	probably damaging	1.00
R8826:Cntnap1	UTSW	11	101,077,655 (GRCm39)	missense	probably damaging	0.99
R9103:Cntnap1	UTSW	11	101,072,094 (GRCm39)	missense	probably benign	0.06
R9279:Cntnap1	UTSW	11	101,072,121 (GRCm39)	missense	probably damaging	0.99
R9284:Cntnap1	UTSW	11	101,068,137 (GRCm39)	missense	probably benign
R9386:Cntnap1	UTSW	11	101,076,052 (GRCm39)	missense	probably damaging	1.00
R9689:Cntnap1	UTSW	11	101,072,178 (GRCm39)	missense	probably damaging	0.98
R9697:Cntnap1	UTSW	11	101,068,828 (GRCm39)	missense	possibly damaging	0.51
RF042:Cntnap1	UTSW	11	101,071,131 (GRCm39)	critical splice acceptor site	probably benign
RF048:Cntnap1	UTSW	11	101,080,389 (GRCm39)	unclassified	probably benign
RF048:Cntnap1	UTSW	11	101,071,131 (GRCm39)	critical splice acceptor site	probably benign
RF049:Cntnap1	UTSW	11	101,080,422 (GRCm39)	unclassified	probably benign
RF049:Cntnap1	UTSW	11	101,080,418 (GRCm39)	unclassified	probably benign
RF050:Cntnap1	UTSW	11	101,080,418 (GRCm39)	unclassified	probably benign
Z1176:Cntnap1	UTSW	11	101,073,724 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGATACAGATGTGTGCGTGG -3'
(R):5'- TAGTCACGTACAAAGGAGCTGAC -3'

Sequencing Primer
(F):5'- GGTCGGTGACATAAAAACCCTTTG -3'
(R):5'- CTGACATAGAGCAGGACGGC -3'

Posted On

2018-05-04