Mutagenetix > Incidental Mutation

Incidental Mutation 'R1696:Cntn2'

192179

Institutional Source

Beutler Lab

Gene Symbol

Cntn2

Ensembl Gene

ENSMUSG00000053024

Gene Name

contactin 2

Synonyms

Tax, axonin, TAG1, TAG-1, D130012K04Rik

MMRRC Submission

039729-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R1696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132437163-132470989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132449017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 664 (N664S)

Ref Sequence

ENSEMBL: ENSMUSP00000083707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086521]

AlphaFold

Q61330

Predicted Effect

probably damaging
Transcript: ENSMUST00000086521
AA Change: N664S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024
AA Change: N664S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IGc2	54	120	8.78e-9	SMART
IG	142	232	3.89e-1	SMART
IGc2	254	315	2.14e-21	SMART
IGc2	341	404	4.59e-12	SMART
IGc2	433	497	7.52e-8	SMART
IGc2	523	596	2.72e-5	SMART
FN3	610	696	2.72e-12	SMART
FN3	713	799	1.02e-2	SMART
FN3	815	899	5.27e-10	SMART
FN3	915	995	8.91e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186487

Predicted Effect

unknown
Transcript: ENSMUST00000188065
AA Change: N167S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190601

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. Mice lacking a functional copy of this gene exhibit epileptic seizures and elevated expression of A1 adenosine receptors. [provided by RefSeq, Sep 2016]
PHENOTYPE: Targeted mutation of this locus results in molecular abnormalities in the central nervous system. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted(5)

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,260,022 (GRCm39)	T25A	possibly damaging	Het
Abca17	T	C	17: 24,486,632 (GRCm39)	Y1465C	possibly damaging	Het
Adgrb1	C	T	15: 74,459,956 (GRCm39)	R530W	probably damaging	Het
Ak9	A	G	10: 41,203,585 (GRCm39)	T159A	possibly damaging	Het
Akap13	G	A	7: 75,259,340 (GRCm39)	G655S	possibly damaging	Het
Amer2	T	A	14: 60,617,123 (GRCm39)	D439E	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef2	T	A	2: 166,703,558 (GRCm39)	M870K	probably damaging	Het
Arhgef33	T	C	17: 80,656,935 (GRCm39)	F150S	probably damaging	Het
Arid2	A	T	15: 96,268,064 (GRCm39)	T726S	probably benign	Het
Atf7ip2	G	A	16: 10,052,195 (GRCm39)	V225I	probably damaging	Het
Atp12a	A	T	14: 56,603,545 (GRCm39)	E50V	probably damaging	Het
Bdkrb1	A	G	12: 105,570,761 (GRCm39)	N109S	probably benign	Het
Cald1	A	G	6: 34,722,646 (GRCm39)	E104G	probably damaging	Het
Capn15	A	G	17: 26,183,878 (GRCm39)	V267A	probably benign	Het
Ccng2	A	T	5: 93,421,241 (GRCm39)	K250N	possibly damaging	Het
Ccr10	T	A	11: 101,065,210 (GRCm39)	N107Y	probably benign	Het
Cyp24a1	T	G	2: 170,327,963 (GRCm39)	E426D	probably benign	Het
Cyp26a1	A	G	19: 37,689,626 (GRCm39)	S441G	probably benign	Het
Cyp4f14	T	A	17: 33,128,145 (GRCm39)	K290M	possibly damaging	Het
Dcp2	T	A	18: 44,533,391 (GRCm39)	L114Q	probably damaging	Het
Dhrs7	A	G	12: 72,699,894 (GRCm39)	F246S	possibly damaging	Het
Dlg1	T	C	16: 31,600,616 (GRCm39)	V167A	probably damaging	Het
Dnmt3b	A	T	2: 153,518,630 (GRCm39)	K598*	probably null	Het
Dph7	T	C	2: 24,859,692 (GRCm39)		probably null	Het
Ehbp1	T	C	11: 22,003,441 (GRCm39)	M1103V	probably damaging	Het
Ell2	T	C	13: 75,917,677 (GRCm39)	S536P	probably damaging	Het
Ero1a	A	T	14: 45,537,392 (GRCm39)	V178E	probably damaging	Het
Faf2	T	A	13: 54,786,067 (GRCm39)	*50R	probably null	Het
Fbxl14	A	T	6: 119,457,107 (GRCm39)	N96I	probably damaging	Het
Fcrl2	T	C	3: 87,166,825 (GRCm39)	Y56C	possibly damaging	Het
Foxc1	T	A	13: 31,992,782 (GRCm39)	M531K	unknown	Het
Foxp1	A	C	6: 98,922,663 (GRCm39)	S391A	probably benign	Het
Frem2	A	T	3: 53,563,463 (GRCm39)	L348*	probably null	Het
Fsd1	T	A	17: 56,295,257 (GRCm39)		probably null	Het
Gab2	A	G	7: 96,872,840 (GRCm39)	E81G	probably damaging	Het
Gcat	G	A	15: 78,919,995 (GRCm39)	V196M	probably damaging	Het
Gfy	T	C	7: 44,827,470 (GRCm39)	T209A	possibly damaging	Het
Ggt7	T	C	2: 155,336,899 (GRCm39)	N531S	possibly damaging	Het
Gnai3	A	G	3: 108,016,775 (GRCm39)	I343T	probably damaging	Het
H2-DMa	A	T	17: 34,357,387 (GRCm39)	Q220L	probably benign	Het
Heatr1	A	G	13: 12,438,602 (GRCm39)	I1346V	possibly damaging	Het
Igfbp1	T	A	11: 7,147,978 (GRCm39)	V7D	probably benign	Het
Igfbp1	T	C	11: 7,151,922 (GRCm39)	W242R	probably damaging	Het
Kbtbd2	T	G	6: 56,756,326 (GRCm39)	K470T	probably benign	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klhl25	G	T	7: 75,516,591 (GRCm39)	G499V	probably damaging	Het
Krt7	A	T	15: 101,321,307 (GRCm39)	T375S	probably benign	Het
Krt73	G	A	15: 101,708,344 (GRCm39)	L238F	probably damaging	Het
Lama5	G	T	2: 179,844,279 (GRCm39)	H331Q	probably damaging	Het
Leng8	T	G	7: 4,148,135 (GRCm39)	F663V	probably damaging	Het
Lrp12	G	T	15: 39,741,757 (GRCm39)	H338Q	probably damaging	Het
Lrp6	T	A	6: 134,445,686 (GRCm39)	R1042S	probably damaging	Het
Map6	T	A	7: 98,966,664 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,700,417 (GRCm39)	F1459L	possibly damaging	Het
Mmp1b	T	C	9: 7,386,699 (GRCm39)	T142A	probably damaging	Het
Mmp23	T	A	4: 155,735,166 (GRCm39)	*392C	probably null	Het
Nlrp4a	C	T	7: 26,149,959 (GRCm39)	S522F	probably damaging	Het
Nup93	T	G	8: 95,023,183 (GRCm39)	F254V	probably benign	Het
Oas1h	G	T	5: 121,000,885 (GRCm39)		probably null	Het
Ocstamp	A	G	2: 165,238,094 (GRCm39)	L390P	probably damaging	Het
Olfm1	C	A	2: 28,098,128 (GRCm39)	Y20*	probably null	Het
Or10ac1	C	T	6: 42,515,537 (GRCm39)	V140M	probably benign	Het
Or13a26	A	T	7: 140,284,409 (GRCm39)	K82*	probably null	Het
Or52ae7	T	C	7: 103,119,384 (GRCm39)	V46A	probably benign	Het
Or5as1	A	G	2: 86,980,724 (GRCm39)	F94L	probably benign	Het
Or7g33	A	G	9: 19,449,190 (GRCm39)	F12S	probably damaging	Het
Pgghg	T	C	7: 140,525,224 (GRCm39)	V410A	possibly damaging	Het
Polr2b	T	A	5: 77,490,495 (GRCm39)	D878E	probably benign	Het
Pspc1	T	C	14: 57,001,700 (GRCm39)	T225A	probably benign	Het
Rad21l	A	T	2: 151,510,447 (GRCm39)	Y3N	probably damaging	Het
Rbl2	A	G	8: 91,812,352 (GRCm39)	N280S	probably benign	Het
Rdm1	C	A	11: 101,521,694 (GRCm39)	Q150K	probably benign	Het
Ro60	T	A	1: 143,633,575 (GRCm39)	I508F	probably damaging	Het
Rrp12	A	T	19: 41,862,188 (GRCm39)	F932I	probably damaging	Het
Ryr2	A	T	13: 11,746,543 (GRCm39)	M2003K	probably benign	Het
Scfd2	T	C	5: 74,691,539 (GRCm39)	T248A	probably benign	Het
Slc22a16	G	A	10: 40,460,923 (GRCm39)	A242T	possibly damaging	Het
Slit3	C	A	11: 35,566,750 (GRCm39)	N1007K	probably damaging	Het
Sntg2	C	A	12: 30,317,062 (GRCm39)	G187C	probably damaging	Het
Spag5	T	C	11: 78,212,152 (GRCm39)	V1060A	probably damaging	Het
Spg7	G	A	8: 123,816,964 (GRCm39)	V552I	probably benign	Het
Spns2	T	A	11: 72,347,173 (GRCm39)	T434S	probably benign	Het
Srpk2	C	T	5: 23,753,492 (GRCm39)	W87*	probably null	Het
St3gal3	T	C	4: 117,797,589 (GRCm39)	I268V	possibly damaging	Het
Stat6	T	C	10: 127,488,918 (GRCm39)	C356R	probably damaging	Het
Stx8	A	G	11: 67,902,248 (GRCm39)	Q144R	probably damaging	Het
Tcn2	C	A	11: 3,872,169 (GRCm39)	L319F	probably damaging	Het
Tex14	T	C	11: 87,402,371 (GRCm39)	I486T	possibly damaging	Het
Thtpa	T	C	14: 55,333,242 (GRCm39)	V109A	probably benign	Het
Tmem127	C	A	2: 127,090,627 (GRCm39)	L48I	probably damaging	Het
Tnfaip8	A	T	18: 50,223,290 (GRCm39)	K9*	probably null	Het
Tnfrsf1b	T	A	4: 144,954,044 (GRCm39)	T102S	probably benign	Het
Tor1aip1	A	T	1: 155,893,262 (GRCm39)	M110K	possibly damaging	Het
Trim10	A	T	17: 37,188,073 (GRCm39)	K430*	probably null	Het
Trpv6	A	G	6: 41,598,702 (GRCm39)	V641A	possibly damaging	Het
Ttf1	T	G	2: 28,960,014 (GRCm39)	Y541D	probably damaging	Het
Ttn	A	G	2: 76,594,750 (GRCm39)	V20432A	probably damaging	Het
Vac14	A	T	8: 111,359,079 (GRCm39)		probably null	Het
Vipr2	G	T	12: 116,102,777 (GRCm39)	A296S	probably benign	Het
Vmn1r1	T	C	1: 181,985,624 (GRCm39)	R14G	probably benign	Het
Vmn1r178	T	A	7: 23,593,625 (GRCm39)	N151K	probably damaging	Het
Vmn1r58	T	A	7: 5,413,727 (GRCm39)	I168F	possibly damaging	Het
Vmn1r77	C	T	7: 11,775,547 (GRCm39)	Q40*	probably null	Het
Vmn2r76	T	C	7: 85,880,464 (GRCm39)	N74S	possibly damaging	Het
Zc2hc1c	T	A	12: 85,337,555 (GRCm39)	M404K	possibly damaging	Het

Other mutations in Cntn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01106:Cntn2	APN	1	132,449,622 (GRCm39)	splice site	probably benign
IGL01137:Cntn2	APN	1	132,449,035 (GRCm39)	splice site	probably benign
IGL01339:Cntn2	APN	1	132,446,643 (GRCm39)	splice site	probably null
IGL01369:Cntn2	APN	1	132,443,843 (GRCm39)	missense	probably benign
IGL01572:Cntn2	APN	1	132,455,909 (GRCm39)	missense	probably damaging	1.00
IGL02389:Cntn2	APN	1	132,453,059 (GRCm39)	missense	probably damaging	0.99
IGL02473:Cntn2	APN	1	132,446,069 (GRCm39)	missense	probably benign
IGL02550:Cntn2	APN	1	132,456,801 (GRCm39)	missense	probably null	0.03
IGL02608:Cntn2	APN	1	132,453,654 (GRCm39)	missense	possibly damaging	0.87
IGL02755:Cntn2	APN	1	132,457,040 (GRCm39)	missense	probably benign	0.43
IGL02850:Cntn2	APN	1	132,446,114 (GRCm39)	missense	probably benign	0.00
IGL02887:Cntn2	APN	1	132,444,308 (GRCm39)	missense	probably damaging	0.96
IGL03060:Cntn2	APN	1	132,456,678 (GRCm39)	missense	probably benign	0.03
IGL03224:Cntn2	APN	1	132,450,780 (GRCm39)	missense	probably damaging	1.00
R0009:Cntn2	UTSW	1	132,443,918 (GRCm39)	nonsense	probably null
R0009:Cntn2	UTSW	1	132,443,918 (GRCm39)	nonsense	probably null
R0270:Cntn2	UTSW	1	132,449,462 (GRCm39)	missense	probably damaging	1.00
R0739:Cntn2	UTSW	1	132,456,750 (GRCm39)	missense	probably damaging	1.00
R0849:Cntn2	UTSW	1	132,450,124 (GRCm39)	missense	probably benign	0.09
R0903:Cntn2	UTSW	1	132,461,422 (GRCm39)	small deletion	probably benign
R1463:Cntn2	UTSW	1	132,448,875 (GRCm39)	critical splice donor site	probably null
R1512:Cntn2	UTSW	1	132,451,430 (GRCm39)	missense	probably damaging	0.99
R1535:Cntn2	UTSW	1	132,453,122 (GRCm39)	missense	probably benign	0.26
R1686:Cntn2	UTSW	1	132,454,049 (GRCm39)	missense	possibly damaging	0.78
R1708:Cntn2	UTSW	1	132,446,936 (GRCm39)	missense	probably damaging	0.96
R2251:Cntn2	UTSW	1	132,453,059 (GRCm39)	missense	probably damaging	0.99
R2315:Cntn2	UTSW	1	132,450,735 (GRCm39)	missense	probably benign	0.00
R2395:Cntn2	UTSW	1	132,454,110 (GRCm39)	missense	probably benign
R3617:Cntn2	UTSW	1	132,456,361 (GRCm39)	missense	probably benign	0.16
R3883:Cntn2	UTSW	1	132,456,677 (GRCm39)	missense	probably damaging	0.99
R3884:Cntn2	UTSW	1	132,456,677 (GRCm39)	missense	probably damaging	0.99
R4060:Cntn2	UTSW	1	132,453,634 (GRCm39)	missense	probably damaging	0.99
R4289:Cntn2	UTSW	1	132,455,481 (GRCm39)	missense	probably benign	0.01
R4710:Cntn2	UTSW	1	132,455,963 (GRCm39)	missense	possibly damaging	0.84
R4921:Cntn2	UTSW	1	132,443,770 (GRCm39)	missense	possibly damaging	0.49
R5121:Cntn2	UTSW	1	132,444,798 (GRCm39)	nonsense	probably null
R5288:Cntn2	UTSW	1	132,451,415 (GRCm39)	missense	probably benign	0.18
R5360:Cntn2	UTSW	1	132,446,595 (GRCm39)	missense	probably damaging	0.97
R5787:Cntn2	UTSW	1	132,450,797 (GRCm39)	missense	probably damaging	1.00
R5817:Cntn2	UTSW	1	132,446,486 (GRCm39)	missense	probably benign	0.21
R5930:Cntn2	UTSW	1	132,451,170 (GRCm39)	missense	probably damaging	1.00
R6053:Cntn2	UTSW	1	132,446,090 (GRCm39)	missense	probably benign	0.18
R7189:Cntn2	UTSW	1	132,444,824 (GRCm39)	missense	probably damaging	1.00
R7352:Cntn2	UTSW	1	132,450,137 (GRCm39)	missense	probably benign	0.02
R7562:Cntn2	UTSW	1	132,454,055 (GRCm39)	missense	possibly damaging	0.67
R7689:Cntn2	UTSW	1	132,443,882 (GRCm39)	missense	probably benign	0.00
R7764:Cntn2	UTSW	1	132,450,101 (GRCm39)	missense	probably benign	0.21
R8080:Cntn2	UTSW	1	132,449,536 (GRCm39)	missense	probably damaging	1.00
R8344:Cntn2	UTSW	1	132,449,512 (GRCm39)	missense	probably damaging	1.00
R8683:Cntn2	UTSW	1	132,450,731 (GRCm39)	missense	probably damaging	1.00
R9087:Cntn2	UTSW	1	132,453,108 (GRCm39)	missense	probably damaging	1.00
R9188:Cntn2	UTSW	1	132,443,276 (GRCm39)	missense	probably damaging	1.00
R9267:Cntn2	UTSW	1	132,449,021 (GRCm39)	missense	probably benign	0.02
R9329:Cntn2	UTSW	1	132,456,678 (GRCm39)	missense	probably benign	0.03
R9385:Cntn2	UTSW	1	132,455,912 (GRCm39)	missense	probably damaging	1.00
X0018:Cntn2	UTSW	1	132,461,422 (GRCm39)	small deletion	probably benign
Z1176:Cntn2	UTSW	1	132,455,526 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACACTCACCTGCTTCCTTAGTGC -3'
(R):5'- TCGTGGCTTTGACAATCACAGCCC -3'

Sequencing Primer
(F):5'- CCTTAGTGCGGATTCTGCTG -3'
(R):5'- CAGCCTTGTGTTGCTAGAGAAC -3'

Posted On

2014-05-14