Mutagenetix > Incidental Mutation

Incidental Mutation 'R5852:Cntn6'

454718

Institutional Source

Beutler Lab

Gene Symbol

Cntn6

Ensembl Gene

ENSMUSG00000030092

Gene Name

contactin 6

Synonyms

NB-3

MMRRC Submission

043227-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R5852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104469751-104840367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104812706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 663 (V663F)

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: V663F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: V663F

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

probably benign
Transcript: ENSMUST00000161070
AA Change: V591F

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: V591F

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: V663F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: V663F

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,891,139 (GRCm39)	I453F	probably damaging	Het
Anpep	C	T	7: 79,488,720 (GRCm39)	W402*	probably null	Het
Apcdd1	T	C	18: 63,070,134 (GRCm39)	S134P	probably damaging	Het
Ccdc154	T	C	17: 25,382,183 (GRCm39)	V34A	probably benign	Het
Cntn3	A	T	6: 102,397,377 (GRCm39)	N65K	probably damaging	Het
Crisp3	A	T	17: 40,536,711 (GRCm39)	C201*	probably null	Het
Dnhd1	T	A	7: 105,344,955 (GRCm39)	W2100R	probably damaging	Het
Dync2h1	A	T	9: 7,011,290 (GRCm39)	S3634R	probably benign	Het
Entrep2	T	A	7: 64,425,579 (GRCm39)	H171L	probably damaging	Het
Gucy1a2	T	C	9: 3,865,460 (GRCm39)	F645L	probably damaging	Het
Hs6st3	G	T	14: 120,106,738 (GRCm39)	R382L	probably damaging	Het
Il27	T	A	7: 126,191,786 (GRCm39)	T89S	possibly damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Klhl23	T	A	2: 69,654,613 (GRCm39)	I161N	probably benign	Het
Lrrk2	G	A	15: 91,640,152 (GRCm39)	E1566K	probably damaging	Het
Mia3	A	G	1: 183,113,713 (GRCm39)	V437A	probably benign	Het
Ncoa6	G	T	2: 155,247,419 (GRCm39)	H1962N	possibly damaging	Het
Nox4	C	T	7: 86,988,172 (GRCm39)	T361I	probably damaging	Het
Pappa2	T	C	1: 158,544,584 (GRCm39)	Y1748C	probably damaging	Het
Phyhip	T	C	14: 70,699,369 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,447,632 (GRCm39)	F2254L	probably benign	Het
Plxnb1	A	G	9: 108,935,518 (GRCm39)	Y1018C	probably damaging	Het
Pnoc	C	T	14: 65,648,671 (GRCm39)	V8I	probably benign	Het
Prss29	A	G	17: 25,541,408 (GRCm39)	D256G	probably benign	Het
Scrn3	T	C	2: 73,161,349 (GRCm39)	F312L	probably damaging	Het
Sephs1	A	G	2: 4,904,339 (GRCm39)	E239G	possibly damaging	Het
Tti1	A	G	2: 157,842,593 (GRCm39)	L812P	probably damaging	Het
Wdr1	A	G	5: 38,694,518 (GRCm39)	S62P	probably benign	Het
Zfp106	A	G	2: 120,346,487 (GRCm39)	S1659P	probably damaging	Het
Zng1	A	G	19: 24,932,769 (GRCm39)	V88A	possibly damaging	Het

Other mutations in Cntn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Cntn6	APN	6	104,627,361 (GRCm39)	missense	probably damaging	0.99
IGL01331:Cntn6	APN	6	104,751,484 (GRCm39)	missense	probably damaging	1.00
IGL01619:Cntn6	APN	6	104,705,335 (GRCm39)	splice site	probably benign
IGL02028:Cntn6	APN	6	104,836,387 (GRCm39)	missense	probably damaging	0.99
IGL02420:Cntn6	APN	6	104,823,103 (GRCm39)	critical splice donor site	probably null
IGL02557:Cntn6	APN	6	104,751,496 (GRCm39)	missense	probably damaging	1.00
IGL03000:Cntn6	APN	6	104,781,347 (GRCm39)	missense	probably damaging	1.00
IGL03367:Cntn6	APN	6	104,781,299 (GRCm39)	missense	probably damaging	1.00
IGL03383:Cntn6	APN	6	104,753,418 (GRCm39)	splice site	probably benign
PIT4366001:Cntn6	UTSW	6	104,809,498 (GRCm39)	missense	probably benign	0.05
R0490:Cntn6	UTSW	6	104,810,879 (GRCm39)	missense	possibly damaging	0.91
R0583:Cntn6	UTSW	6	104,753,275 (GRCm39)	missense	possibly damaging	0.79
R0636:Cntn6	UTSW	6	104,840,109 (GRCm39)	missense	probably benign	0.00
R0654:Cntn6	UTSW	6	104,753,389 (GRCm39)	missense	probably benign	0.00
R0960:Cntn6	UTSW	6	104,751,441 (GRCm39)	missense	probably benign	0.01
R1241:Cntn6	UTSW	6	104,809,470 (GRCm39)	missense	probably damaging	1.00
R1385:Cntn6	UTSW	6	104,838,861 (GRCm39)	missense	probably benign	0.07
R1401:Cntn6	UTSW	6	104,781,359 (GRCm39)	missense	possibly damaging	0.65
R1478:Cntn6	UTSW	6	104,753,389 (GRCm39)	missense	probably benign	0.00
R1542:Cntn6	UTSW	6	104,825,061 (GRCm39)	missense	probably damaging	1.00
R1593:Cntn6	UTSW	6	104,809,541 (GRCm39)	missense	possibly damaging	0.58
R1840:Cntn6	UTSW	6	104,751,441 (GRCm39)	missense	probably damaging	1.00
R2066:Cntn6	UTSW	6	104,838,783 (GRCm39)	nonsense	probably null
R2097:Cntn6	UTSW	6	104,838,910 (GRCm39)	missense	probably damaging	0.99
R2289:Cntn6	UTSW	6	104,545,989 (GRCm39)	start gained	probably benign
R2429:Cntn6	UTSW	6	104,627,526 (GRCm39)	missense	possibly damaging	0.96
R2967:Cntn6	UTSW	6	104,703,198 (GRCm39)	missense	probably benign	0.04
R4009:Cntn6	UTSW	6	104,810,783 (GRCm39)	missense	probably damaging	0.98
R4476:Cntn6	UTSW	6	104,749,522 (GRCm39)	missense	probably damaging	1.00
R4664:Cntn6	UTSW	6	104,705,245 (GRCm39)	missense	probably benign	0.20
R4666:Cntn6	UTSW	6	104,705,245 (GRCm39)	missense	probably benign	0.20
R4701:Cntn6	UTSW	6	104,781,321 (GRCm39)	missense	probably benign	0.01
R4780:Cntn6	UTSW	6	104,822,745 (GRCm39)	missense	probably damaging	1.00
R4854:Cntn6	UTSW	6	104,836,436 (GRCm39)	missense	possibly damaging	0.95
R4965:Cntn6	UTSW	6	104,751,435 (GRCm39)	missense	probably damaging	0.99
R5051:Cntn6	UTSW	6	104,749,558 (GRCm39)	missense	probably damaging	1.00
R5075:Cntn6	UTSW	6	104,809,991 (GRCm39)	missense	probably damaging	1.00
R5152:Cntn6	UTSW	6	104,546,074 (GRCm39)	intron	probably benign
R5291:Cntn6	UTSW	6	104,703,096 (GRCm39)	missense	probably damaging	1.00
R5388:Cntn6	UTSW	6	104,809,523 (GRCm39)	missense	probably damaging	1.00
R5937:Cntn6	UTSW	6	104,810,064 (GRCm39)	missense	possibly damaging	0.68
R5980:Cntn6	UTSW	6	104,825,093 (GRCm39)	missense	probably damaging	0.98
R6290:Cntn6	UTSW	6	104,744,851 (GRCm39)	missense	probably damaging	1.00
R6338:Cntn6	UTSW	6	104,703,100 (GRCm39)	missense	probably damaging	1.00
R6396:Cntn6	UTSW	6	104,627,461 (GRCm39)	missense	probably damaging	1.00
R6447:Cntn6	UTSW	6	104,836,409 (GRCm39)	missense	probably damaging	1.00
R6860:Cntn6	UTSW	6	104,838,907 (GRCm39)	missense	possibly damaging	0.95
R6871:Cntn6	UTSW	6	104,822,719 (GRCm39)	frame shift	probably null
R7012:Cntn6	UTSW	6	104,751,441 (GRCm39)	missense	probably benign	0.01
R7012:Cntn6	UTSW	6	104,703,223 (GRCm39)	missense	probably damaging	0.98
R7337:Cntn6	UTSW	6	104,627,491 (GRCm39)	missense	probably damaging	0.99
R7658:Cntn6	UTSW	6	104,627,444 (GRCm39)	missense	probably benign	0.29
R8133:Cntn6	UTSW	6	104,705,298 (GRCm39)	missense	probably benign	0.19
R8463:Cntn6	UTSW	6	104,749,580 (GRCm39)	missense	possibly damaging	0.64
R8909:Cntn6	UTSW	6	104,825,093 (GRCm39)	missense	probably benign	0.05
R9232:Cntn6	UTSW	6	104,815,781 (GRCm39)	missense	probably damaging	1.00
R9287:Cntn6	UTSW	6	104,809,471 (GRCm39)	missense	possibly damaging	0.89
R9454:Cntn6	UTSW	6	104,781,308 (GRCm39)	missense	possibly damaging	0.82
R9698:Cntn6	UTSW	6	104,810,044 (GRCm39)	nonsense	probably null
X0020:Cntn6	UTSW	6	104,744,845 (GRCm39)	missense	probably benign	0.00
Z1177:Cntn6	UTSW	6	104,809,545 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCAGACTGCCTAAAGC -3'
(R):5'- TAAAGGACCCACAGAAGCTTTTCTC -3'

Sequencing Primer
(F):5'- TGAGAGAAATCAACTTCAGACATTG -3'
(R):5'- CAGAAGCTTTTCTCTAAGAACCAG -3'

Posted On

2017-02-10