Mutagenetix > Incidental Mutation

Incidental Mutation 'R1241:Cntn6'

151993

Institutional Source

Beutler Lab

Gene Symbol

Cntn6

Ensembl Gene

ENSMUSG00000030092

Gene Name

contactin 6

Synonyms

NB-3

MMRRC Submission

039308-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R1241 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104492790-104863406 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104832509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 502 (I502F)

Ref Sequence

ENSEMBL: ENSMUSP00000124025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089215] [ENSMUST00000161070] [ENSMUST00000162872]

AlphaFold

Q9JMB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000089215
AA Change: I502F

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

SMART Domains

Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: I502F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	41	107	5.24e-7	SMART
IG	129	217	2.28e-7	SMART
IGc2	240	304	4e-12	SMART
IGc2	330	393	4.52e-11	SMART
IGc2	422	486	5.48e-10	SMART
IGc2	512	584	1.44e-4	SMART
FN3	598	684	2.17e-11	SMART
FN3	701	787	8.62e0	SMART
FN3	803	888	9.92e-6	SMART
FN3	903	983	8.17e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161070
AA Change: I430F

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: I430F

Domain	Start	End	E-Value	Type
SCOP:d1cs6a4	4	40	5e-4	SMART
IG	57	145	2.28e-7	SMART
IGc2	168	232	4e-12	SMART
IGc2	258	321	4.52e-11	SMART
IGc2	350	414	5.48e-10	SMART
IGc2	440	512	1.44e-4	SMART
FN3	526	612	2.17e-11	SMART
FN3	629	715	8.62e0	SMART
FN3	731	816	9.92e-6	SMART
FN3	831	911	8.17e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162872
AA Change: I502F

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

SMART Domains

Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: I502F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	41	107	5.24e-7	SMART
IG	129	217	2.28e-7	SMART
IGc2	240	304	4e-12	SMART
IGc2	330	393	4.52e-11	SMART
IGc2	422	486	5.48e-10	SMART
IGc2	512	584	1.44e-4	SMART
FN3	598	684	2.17e-11	SMART
FN3	701	787	8.62e0	SMART
FN3	803	888	9.92e-6	SMART
FN3	903	983	8.17e0	SMART

Meta Mutation Damage Score

0.4303

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for disruption of this gene display impaired coordination without any obvious morphological of physiological abnormalities in the brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505	S119N	probably benign	Het
9030619P08Rik	A	C	15: 75,429,997		noncoding transcript	Het
Aldh1l2	T	C	10: 83,496,025	I639V	probably benign	Het
Ambra1	T	C	2: 91,770,896		probably benign	Het
Ap5z1	T	C	5: 142,470,114	Y299H	probably damaging	Het
Atp6v1b1	A	T	6: 83,756,544		probably benign	Het
Atr	G	A	9: 95,950,636	V2574I	probably benign	Het
Atxn1l	T	A	8: 109,732,980	T217S	probably benign	Het
Ccdc85a	A	G	11: 28,396,150	S89P	probably benign	Het
Cd209e	A	T	8: 3,849,124	I196N	probably damaging	Het
Cdhr4	A	G	9: 107,995,296	S247G	probably benign	Het
Crisp4	T	C	1: 18,122,794	Y233C	probably damaging	Het
Ctsb	C	A	14: 63,139,104	T261N	probably benign	Het
Ctsk	T	C	3: 95,500,874	F14L	probably benign	Het
Dchs1	T	C	7: 105,758,178	I2110V	probably damaging	Het
Dennd5b	A	G	6: 149,068,490	M155T	probably benign	Het
Echdc3	T	C	2: 6,212,800	D54G	probably benign	Het
Egln3	G	A	12: 54,181,693	T209I	probably damaging	Het
Fbn1	A	C	2: 125,372,527		probably benign	Het
Fkbp15	A	T	4: 62,304,609	S1018T	possibly damaging	Het
Flnb	T	C	14: 7,896,503	I898T	probably benign	Het
Flt1	T	A	5: 147,599,646	Y795F	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fryl	A	G	5: 73,064,925		probably benign	Het
Fryl	T	C	5: 73,110,271	E417G	probably damaging	Het
Gcnt3	T	C	9: 70,034,333	I318V	probably benign	Het
Gm11437	T	A	11: 84,164,628	H54L	possibly damaging	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 151,907,048		probably benign	Het
Jarid2	G	A	13: 44,884,892		probably benign	Het
Kif5b	A	T	18: 6,214,044	V653E	probably benign	Het
Kmt2b	A	G	7: 30,574,940	V2113A	probably damaging	Het
Knl1	C	T	2: 119,072,573	T1585I	probably benign	Het
Mlxipl	T	A	5: 135,132,718	M497K	probably benign	Het
Mre11a	T	A	9: 14,799,639	W210R	probably damaging	Het
Mrps22	A	G	9: 98,594,695	V207A	probably benign	Het
Myo15	A	G	11: 60,499,430	I2111V	possibly damaging	Het
Myo1a	C	T	10: 127,719,279	P838L	probably benign	Het
Nbea	T	A	3: 56,058,040	H484L	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nlrp2	T	A	7: 5,328,431	D322V	probably damaging	Het
Nrcam	T	C	12: 44,590,164	C1057R	probably damaging	Het
Ntsr1	T	C	2: 180,500,601	S62P	probably damaging	Het
Nudt18	A	G	14: 70,579,427	H157R	probably benign	Het
Olfr1002	T	A	2: 85,647,560	T254S	probably damaging	Het
Olfr982	C	A	9: 40,074,896	N200K	probably damaging	Het
Sidt2	T	C	9: 45,945,704	T435A	probably damaging	Het
Snx27	T	C	3: 94,520,233	T312A	probably benign	Het
Srebf2	T	C	15: 82,177,519	S429P	probably damaging	Het
Suclg2	A	G	6: 95,497,582		probably benign	Het
Tchh	A	T	3: 93,444,972	E573V	unknown	Het
Tdrd1	A	G	19: 56,861,760	T985A	probably benign	Het
Ttc7b	A	G	12: 100,403,439	I357T	possibly damaging	Het
Ttn	T	C	2: 76,795,664	E13271G	probably damaging	Het
Usp13	A	G	3: 32,915,708	E661G	probably damaging	Het
Vasp	T	G	7: 19,259,033		probably benign	Het
Vmn2r109	A	T	17: 20,555,241	Y75N	possibly damaging	Het
Vmn2r15	T	A	5: 109,292,904	N363Y	probably damaging	Het
Vmn2r60	T	A	7: 42,137,052	N426K	probably benign	Het
Wisp2	T	A	2: 163,829,077	M168K	unknown	Het
Znhit2	C	A	19: 6,062,258	N344K	probably damaging	Het

Other mutations in Cntn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Cntn6	APN	6	104650400	missense	probably damaging	0.99
IGL01331:Cntn6	APN	6	104774523	missense	probably damaging	1.00
IGL01619:Cntn6	APN	6	104728374	splice site	probably benign
IGL02028:Cntn6	APN	6	104859426	missense	probably damaging	0.99
IGL02420:Cntn6	APN	6	104846142	critical splice donor site	probably null
IGL02557:Cntn6	APN	6	104774535	missense	probably damaging	1.00
IGL03000:Cntn6	APN	6	104804386	missense	probably damaging	1.00
IGL03367:Cntn6	APN	6	104804338	missense	probably damaging	1.00
IGL03383:Cntn6	APN	6	104776457	splice site	probably benign
PIT4366001:Cntn6	UTSW	6	104832537	missense	probably benign	0.05
R0490:Cntn6	UTSW	6	104833918	missense	possibly damaging	0.91
R0583:Cntn6	UTSW	6	104776314	missense	possibly damaging	0.79
R0636:Cntn6	UTSW	6	104863148	missense	probably benign	0.00
R0654:Cntn6	UTSW	6	104776428	missense	probably benign	0.00
R0960:Cntn6	UTSW	6	104774480	missense	probably benign	0.01
R1385:Cntn6	UTSW	6	104861900	missense	probably benign	0.07
R1401:Cntn6	UTSW	6	104804398	missense	possibly damaging	0.65
R1478:Cntn6	UTSW	6	104776428	missense	probably benign	0.00
R1542:Cntn6	UTSW	6	104848100	missense	probably damaging	1.00
R1593:Cntn6	UTSW	6	104832580	missense	possibly damaging	0.58
R1840:Cntn6	UTSW	6	104774480	missense	probably damaging	1.00
R2066:Cntn6	UTSW	6	104861822	nonsense	probably null
R2097:Cntn6	UTSW	6	104861949	missense	probably damaging	0.99
R2289:Cntn6	UTSW	6	104569028	start gained	probably benign
R2429:Cntn6	UTSW	6	104650565	missense	possibly damaging	0.96
R2967:Cntn6	UTSW	6	104726237	missense	probably benign	0.04
R4009:Cntn6	UTSW	6	104833822	missense	probably damaging	0.98
R4476:Cntn6	UTSW	6	104772561	missense	probably damaging	1.00
R4664:Cntn6	UTSW	6	104728284	missense	probably benign	0.20
R4666:Cntn6	UTSW	6	104728284	missense	probably benign	0.20
R4701:Cntn6	UTSW	6	104804360	missense	probably benign	0.01
R4780:Cntn6	UTSW	6	104845784	missense	probably damaging	1.00
R4854:Cntn6	UTSW	6	104859475	missense	possibly damaging	0.95
R4965:Cntn6	UTSW	6	104774474	missense	probably damaging	0.99
R5051:Cntn6	UTSW	6	104772597	missense	probably damaging	1.00
R5075:Cntn6	UTSW	6	104833030	missense	probably damaging	1.00
R5152:Cntn6	UTSW	6	104569113	intron	probably benign
R5291:Cntn6	UTSW	6	104726135	missense	probably damaging	1.00
R5388:Cntn6	UTSW	6	104832562	missense	probably damaging	1.00
R5852:Cntn6	UTSW	6	104835745	missense	probably damaging	0.97
R5937:Cntn6	UTSW	6	104833103	missense	possibly damaging	0.68
R5980:Cntn6	UTSW	6	104848132	missense	probably damaging	0.98
R6290:Cntn6	UTSW	6	104767890	missense	probably damaging	1.00
R6338:Cntn6	UTSW	6	104726139	missense	probably damaging	1.00
R6396:Cntn6	UTSW	6	104650500	missense	probably damaging	1.00
R6447:Cntn6	UTSW	6	104859448	missense	probably damaging	1.00
R6860:Cntn6	UTSW	6	104861946	missense	possibly damaging	0.95
R6871:Cntn6	UTSW	6	104845758	frame shift	probably null
R7012:Cntn6	UTSW	6	104726262	missense	probably damaging	0.98
R7012:Cntn6	UTSW	6	104774480	missense	probably benign	0.01
R7337:Cntn6	UTSW	6	104650530	missense	probably damaging	0.99
R7658:Cntn6	UTSW	6	104650483	missense	probably benign	0.29
R8133:Cntn6	UTSW	6	104728337	missense	probably benign	0.19
R8463:Cntn6	UTSW	6	104772619	missense	possibly damaging	0.64
R8909:Cntn6	UTSW	6	104848132	missense	probably benign	0.05
R9232:Cntn6	UTSW	6	104838820	missense	probably damaging	1.00
R9287:Cntn6	UTSW	6	104832510	missense	possibly damaging	0.89
R9454:Cntn6	UTSW	6	104804347	missense	possibly damaging	0.82
R9698:Cntn6	UTSW	6	104833083	nonsense	probably null
X0020:Cntn6	UTSW	6	104767884	missense	probably benign	0.00
Z1177:Cntn6	UTSW	6	104832584	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-29