Mutagenetix > Incidental Mutation

Incidental Mutation 'R9454:Cntn6'

714462

Institutional Source

Beutler Lab

Gene Symbol

Cntn6

Ensembl Gene

ENSMUSG00000030092

Gene Name

contactin 6

Synonyms

NB-3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R9454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104492790-104863406 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104804347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 465 (K465E)

Ref Sequence

ENSEMBL: ENSMUSP00000086623 (fasta)

Gene Model

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

AlphaFold

Q9JMB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089215
AA Change: K465E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: K465E

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: K393E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: K393E

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

possibly damaging
Transcript: ENSMUST00000162872
AA Change: K465E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: K465E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	T	18: 61,818,996	H431Q	possibly damaging	Het
Adam25	A	T	8: 40,754,449	I251F	probably damaging	Het
Ankrd31	A	T	13: 96,780,334	T119S	probably damaging	Het
Ankrd31	T	C	13: 96,780,338	V120A	possibly damaging	Het
Anks6	T	C	4: 47,016,789	E809G	possibly damaging	Het
Arhgap21	A	T	2: 20,865,342	S928T	probably damaging	Het
Arhgef10l	G	T	4: 140,580,925	S39*	probably null	Het
Aspm	G	A	1: 139,480,994	E2540K	probably benign	Het
Atp10a	T	C	7: 58,658,591	I46T	probably benign	Het
Atp13a5	C	A	16: 29,314,520	V483L	possibly damaging	Het
BC028528	T	C	3: 95,889,770	D29G	possibly damaging	Het
Ccdc187	T	A	2: 26,276,102	T772S	possibly damaging	Het
Ccnh	G	A	13: 85,202,402	A199T	probably benign	Het
Cfap65	A	T	1: 74,905,051	Y1504N	probably damaging	Het
Ckap2	C	A	8: 22,175,883	E383*	probably null	Het
Clec4n	T	C	6: 123,235,573	V116A	possibly damaging	Het
Cmc2	G	T	8: 116,889,811	D58E	unknown	Het
Col6a6	G	A	9: 105,783,860	A350V	probably damaging	Het
Cps1	A	G	1: 67,180,152	I884V	probably damaging	Het
E2f7	C	T	10: 110,784,681	A853V	probably benign	Het
E330034G19Rik	A	T	14: 24,296,792	Q114L	unknown	Het
Egfr	G	T	11: 16,887,155	G632V	probably damaging	Het
Fam98b	T	C	2: 117,249,769	M1T	probably null	Het
Fcgr2b	T	A	1: 170,961,088	I317F	probably damaging	Het
Galntl6	T	C	8: 57,958,401	D265G	probably damaging	Het
Gm35911	C	T	5: 99,923,093	P76S	probably damaging	Het
Gm4922	A	G	10: 18,784,581	L131P	probably damaging	Het
H1fnt	T	C	15: 98,256,942	I109V	probably benign	Het
H2-Q1	A	T	17: 35,321,373	I145F	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Ica1	A	T	6: 8,667,288	S293T	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Magi2	G	T	5: 20,466,178	V507F	probably damaging	Het
Malrd1	T	C	2: 15,752,849	I978T	unknown	Het
Malrd1	G	A	2: 15,797,726	W1083*	probably null	Het
Mgarp	T	C	3: 51,396,481	T10A	probably damaging	Het
Mtnr1a	A	G	8: 45,085,575	I17V		Het
Muc5ac	C	T	7: 141,808,694	T1914I	unknown	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Nav3	T	C	10: 110,000,003	T73A	probably benign	Het
Olfr1053	A	T	2: 86,314,834	Y151N	probably damaging	Het
Olfr1270	A	C	2: 90,149,476	C177G	probably damaging	Het
Pclo	T	A	5: 14,712,438	S357T	probably benign	Het
Pkdrej	T	A	15: 85,818,219	N1172I	probably benign	Het
Psmb9	G	A	17: 34,183,104	R173C	probably benign	Het
Ralgapb	T	A	2: 158,473,152	H1146Q	probably benign	Het
Raph1	T	A	1: 60,489,594	Q836L	unknown	Het
Rcc1	A	G	4: 132,334,763	S280P	probably damaging	Het
Recql	T	C	6: 142,374,891	M144V	possibly damaging	Het
Rela	T	C	19: 5,645,340	I298T	probably damaging	Het
Rfc1	T	A	5: 65,274,431	I792F		Het
Rnf31	A	G	14: 55,596,152	E539G		Het
Rrp9	T	C	9: 106,483,641	S274P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923		probably benign	Het
Scmh1	A	G	4: 120,515,079	I360V	probably benign	Het
Sh3yl1	T	C	12: 30,940,421		probably null	Het
Shisa9	T	C	16: 11,984,659	S27P	probably benign	Het
Slc17a4	A	G	13: 23,901,927	V359A	probably benign	Het
Slfn5	C	A	11: 82,960,059	A394E	probably benign	Het
Sun3	A	G	11: 9,038,281	F14L	probably benign	Het
Surf1	A	T	2: 26,914,796	D148E	possibly damaging	Het
Syne2	A	G	12: 76,020,501	K4325E	probably damaging	Het
Syne2	A	T	12: 76,095,070	K1388*	probably null	Het
Tacr1	A	G	6: 82,554,872	M250V	probably damaging	Het
Tenm2	T	C	11: 36,221,459	T420A	probably benign	Het
Tm7sf3	C	A	6: 146,618,543	A282S	probably benign	Het
Tmf1	T	C	6: 97,178,905	E40G	probably benign	Het
Tnfrsf12a	A	G	17: 23,676,517		probably null	Het
Ttc30a2	T	A	2: 75,976,468	I567F	probably benign	Het
Unc80	C	A	1: 66,695,590	H3325Q	possibly damaging	Het
Zfp142	A	G	1: 74,569,857	L1593S	probably damaging	Het
Zfp869	T	A	8: 69,706,591	Y444F	probably benign	Het
Zscan10	G	A	17: 23,607,645		probably null	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
R1241:Cntn6	UTSW	6	104832509	missense	probably damaging	1.00
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
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

PCR Primer
(F):5'- ACACAAACTCTTATGCCTTTTGTGC -3'
(R):5'- GTAGCATCACATTCCTAAATGGG -3'

Sequencing Primer
(F):5'- AAACTCTTATGCCTTTTGTGCCAATG -3'
(R):5'- TCACATTCCTAAATGGGACACC -3'

Posted On

2022-06-15