Mutagenetix > Incidental Mutation

Incidental Mutation 'R9279:Cntnap1'

703512

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

R9279 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101065429-101081550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101072121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 458 (V458A)

Ref Sequence

ENSEMBL: ENSMUSP00000099398 (fasta)

Gene Model

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

AlphaFold

O54991

Predicted Effect

probably damaging
Transcript: ENSMUST00000103109
AA Change: V458A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: V458A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr7a5	A	T	4: 139,044,079 (GRCm39)	H225L	possibly damaging	Het
Arhgap32	C	A	9: 32,168,655 (GRCm39)	H879Q	probably benign	Het
Axin2	A	G	11: 108,833,128 (GRCm39)	I438V	possibly damaging	Het
Btbd18	T	A	2: 84,491,920 (GRCm39)	C34S	probably damaging	Het
Carns1	G	T	19: 4,216,256 (GRCm39)	T642N	possibly damaging	Het
Casp8	T	C	1: 58,883,542 (GRCm39)	I283T	probably benign	Het
Ccdc136	T	A	6: 29,421,982 (GRCm39)		probably benign	Het
Ccnk	C	A	12: 108,161,946 (GRCm39)	Q284K	unknown	Het
Ceacam12	T	A	7: 17,801,177 (GRCm39)	L52H	probably damaging	Het
Cit	G	A	5: 116,065,970 (GRCm39)	D540N	probably damaging	Het
Col6a5	T	A	9: 105,758,976 (GRCm39)	I2077F	probably damaging	Het
Dnah2	T	C	11: 69,409,104 (GRCm39)	K425E	probably benign	Het
Eya2	A	G	2: 165,529,631 (GRCm39)	S125G	probably benign	Het
Gabrg1	T	G	5: 70,934,599 (GRCm39)	M260L	probably benign	Het
Greb1	T	C	12: 16,732,153 (GRCm39)	S1603G	probably damaging	Het
Isx	A	G	8: 75,600,434 (GRCm39)	T56A	probably benign	Het
Kif2b	A	T	11: 91,467,975 (GRCm39)	S103T	probably benign	Het
Krtap26-1	T	C	16: 88,444,342 (GRCm39)	H93R	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mdm4	G	A	1: 132,924,416 (GRCm39)	T236M	probably damaging	Het
Mgat5	T	A	1: 127,325,348 (GRCm39)	L405Q	probably damaging	Het
Msantd1	A	G	5: 35,080,885 (GRCm39)	I272V	probably benign	Het
Ocstamp	A	G	2: 165,237,768 (GRCm39)	*499Q	probably null	Het
Or11h6	A	G	14: 50,880,493 (GRCm39)	K252E	possibly damaging	Het
Or1e16	G	A	11: 73,279,789 (GRCm39)	P21L	probably benign	Het
Or2n1d	G	A	17: 38,646,414 (GRCm39)	R122Q	probably damaging	Het
Or4c100	A	G	2: 88,356,211 (GRCm39)	M95V	probably benign	Het
Or5b12	A	T	19: 12,897,309 (GRCm39)	Y121*	probably null	Het
Pcdh15	T	A	10: 74,461,756 (GRCm39)		probably benign	Het
Pkdrej	C	T	15: 85,700,834 (GRCm39)	G1701S	probably damaging	Het
Ppp1r9a	A	G	6: 5,113,757 (GRCm39)	T754A	probably damaging	Het
Prss8	C	A	7: 127,527,082 (GRCm39)	Q55H	probably damaging	Het
Psg20	G	T	7: 18,416,670 (GRCm39)	R149S	probably benign	Het
Ptprz1	T	G	6: 23,002,444 (GRCm39)	N1511K	probably benign	Het
Rbbp8nl	C	T	2: 179,920,894 (GRCm39)		probably null	Het
Sgk2	A	G	2: 162,854,975 (GRCm39)	D362G	probably benign	Het
Sim1	T	C	10: 50,859,796 (GRCm39)	Y553H	probably damaging	Het
Sipa1l2	T	C	8: 126,208,896 (GRCm39)	D504G	probably damaging	Het
Smad7	T	C	18: 75,502,547 (GRCm39)	V174A	possibly damaging	Het
Smarcc1	T	A	9: 109,996,792 (GRCm39)	N303K	possibly damaging	Het
Snai3	T	C	8: 123,183,038 (GRCm39)	H169R	possibly damaging	Het
Tecpr2	T	A	12: 110,895,505 (GRCm39)	S331T	possibly damaging	Het
Tenm2	G	A	11: 35,959,303 (GRCm39)	T1082I	probably benign	Het
Tle4	A	T	19: 14,429,890 (GRCm39)	I627N	probably damaging	Het
Tnxb	A	T	17: 34,898,088 (GRCm39)	N912I	possibly damaging	Het
Ube2q2l	A	G	6: 136,377,978 (GRCm39)	V284A	probably damaging	Het
Vmn1r238	A	T	18: 3,122,994 (GRCm39)	V140E	probably damaging	Het
Vmn1r65	G	A	7: 6,011,988 (GRCm39)	T82I	probably benign	Het
Vps13b	A	G	15: 35,572,290 (GRCm39)	K969R	probably damaging	Het
Zfp943	A	G	17: 22,209,832 (GRCm39)	R35G	possibly damaging	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
R6392:Cntnap1	UTSW	11	101,077,472 (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
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'- TTAGCTACTAAACTGCTCTCCACG -3'
(R):5'- GGTCTCTCCAATACTCTCTATGTGG -3'

Sequencing Primer
(F):5'- TGATTCCATGAGGATCCAGC -3'
(R):5'- TCTATGTGGCCCCATCAGAAGTG -3'

Posted On

2022-03-25