Mutagenetix > Incidental Mutation

Incidental Mutation 'R1899:Cntn4'

214082

Institutional Source

Beutler Lab

Gene Symbol

Cntn4

Ensembl Gene

ENSMUSG00000064293

Gene Name

contactin 4

Synonyms

BIG-2A, Axcam

MMRRC Submission

039919-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R1899 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105677660-106699310 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106675813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 748 (M748V)

Ref Sequence

ENSEMBL: ENSMUSP00000108889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079416] [ENSMUST00000089208] [ENSMUST00000113260] [ENSMUST00000113261] [ENSMUST00000113264]

AlphaFold

Q69Z26

Predicted Effect

probably benign
Transcript: ENSMUST00000079416

SMART Domains

Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000089208
AA Change: M748V

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: M748V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART
FN3	700	786	8.39e0	SMART
FN3	801	886	1.33e-6	SMART
FN3	901	981	9.85e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113260

SMART Domains

Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113261

SMART Domains

Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113264
AA Change: M748V

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: M748V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART
FN3	700	786	8.39e0	SMART
FN3	801	886	1.33e-6	SMART
FN3	901	981	9.85e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204621

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

94% (94/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit aberrant projection of olfactory axons to multiple glomeruli in the olfactory bulb. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,258,342	W378R	probably benign	Het
4930522L14Rik	T	A	5: 109,736,798	Q398L	probably benign	Het
4930596D02Rik	T	G	14: 35,810,132	K162T	probably damaging	Het
Abca8b	G	T	11: 109,937,918	T1353K	possibly damaging	Het
Abcg3	A	C	5: 104,938,199	C565G	probably damaging	Het
Actr3b	G	A	5: 25,829,538	V185I	possibly damaging	Het
Akap6	A	T	12: 53,141,852	E2016D	possibly damaging	Het
Aldh3b2	T	C	19: 3,978,662	V148A	possibly damaging	Het
Ankfy1	C	T	11: 72,754,407	Q771*	probably null	Het
Anks1b	A	G	10: 90,260,756	D425G	probably damaging	Het
Arrb1	T	C	7: 99,582,297		probably benign	Het
Atg2a	C	A	19: 6,245,067	T170N	probably damaging	Het
Atp8b5	C	T	4: 43,361,804	R617C	possibly damaging	Het
Bicra	T	C	7: 15,987,751	T614A	possibly damaging	Het
Cacna1i	A	G	15: 80,391,642	D167G	possibly damaging	Het
Calr4	T	G	4: 109,246,293		probably null	Het
Camsap3	G	T	8: 3,603,922	E515*	probably null	Het
Casp8ap2	T	C	4: 32,643,647	S907P	probably damaging	Het
Cdk19	T	A	10: 40,479,780		probably benign	Het
Chst14	A	G	2: 118,927,015	M122V	possibly damaging	Het
Col7a1	A	G	9: 108,978,888	D2552G	unknown	Het
Cpeb2	C	A	5: 43,277,587	P600Q	probably damaging	Het
Cyp2a5	C	T	7: 26,839,033	R274*	probably null	Het
Dexi	A	G	16: 10,542,518	F58S	probably damaging	Het
Dlg5	C	A	14: 24,148,300	G1522W	probably damaging	Het
Dock2	T	C	11: 34,294,286	H1048R	probably benign	Het
Dpp4	T	C	2: 62,345,050		probably benign	Het
Dusp10	A	T	1: 184,069,180	K381N	possibly damaging	Het
Ercc4	A	G	16: 13,147,787	E761G	probably damaging	Het
Ern2	T	C	7: 122,183,842		probably benign	Het
Fam83f	A	T	15: 80,692,080	T311S	probably damaging	Het
Fat2	T	C	11: 55,262,178	D3736G	probably benign	Het
Fgf11	G	T	11: 69,801,453	T58K	probably benign	Het
Galntl5	C	G	5: 25,198,532	S167*	probably null	Het
Glg1	T	G	8: 111,165,674	E846D	probably benign	Het
Grm8	C	A	6: 28,125,895	E77D	probably damaging	Het
Hmcn1	A	T	1: 150,657,451	D3028E	probably damaging	Het
Htt	A	G	5: 34,907,085	I2943V	probably benign	Het
Ift80	T	C	3: 68,918,513	K498R	probably benign	Het
Ipo9	A	T	1: 135,400,146	M509K	probably damaging	Het
Kcnj3	T	C	2: 55,437,244	V15A	probably damaging	Het
Kcnn3	A	T	3: 89,520,455		probably benign	Het
Larp1b	T	A	3: 40,964,084	D53E	probably benign	Het
Ltf	T	C	9: 111,022,845	F117L	possibly damaging	Het
Maml1	A	G	11: 50,266,130	L406P	probably damaging	Het
Mnx1	G	A	5: 29,473,957	A376V	unknown	Het
Mroh2a	G	A	1: 88,235,376	R376H	probably benign	Het
Mrpl4	A	G	9: 21,006,831	Y111C	probably damaging	Het
Mto1	T	C	9: 78,461,517		probably benign	Het
Nalcn	A	T	14: 123,316,126	M972K	possibly damaging	Het
Nemf	T	C	12: 69,346,378	I225V	probably null	Het
Nipal4	T	G	11: 46,150,231	D379A	probably damaging	Het
Nktr	A	G	9: 121,748,866		probably benign	Het
Nlrp5	A	G	7: 23,404,797	T28A	probably benign	Het
Nxph1	T	A	6: 9,247,622	Y198N	probably damaging	Het
Olfr1037	A	T	2: 86,085,720	V19D	probably benign	Het
Olfr1230	T	C	2: 89,296,670	N200S	probably damaging	Het
Olfr1436	T	C	19: 12,298,343	Y263C	probably damaging	Het
P2rx7	A	G	5: 122,673,736	Y370C	probably benign	Het
Piezo1	T	C	8: 122,482,645		probably benign	Het
Piezo1	T	C	8: 122,489,566	D1401G	probably damaging	Het
Plxnd1	A	G	6: 115,969,363	L879P	probably benign	Het
Polr2a	A	T	11: 69,743,946	I636N	probably damaging	Het
Prex2	G	T	1: 11,162,366	E886*	probably null	Het
Proca1	A	T	11: 78,205,021	I73F	probably damaging	Het
Prss55	A	T	14: 64,079,390	V101E	probably benign	Het
Psg26	T	A	7: 18,478,425	H335L	probably benign	Het
Rai1	A	G	11: 60,185,920	E270G	probably benign	Het
Reep1	A	G	6: 71,780,797	N127D	probably benign	Het
Rims1	G	T	1: 22,428,474	P769Q	probably damaging	Het
Robo4	A	T	9: 37,404,070		probably benign	Het
Ryr2	A	T	13: 11,591,336	D888E	probably benign	Het
Scamp3	A	G	3: 89,180,260	N135D	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sema4f	A	G	6: 82,918,029	M395T	probably benign	Het
Sgip1	T	C	4: 102,968,337		probably null	Het
Sik2	A	T	9: 50,995,674		probably benign	Het
Smtn	G	T	11: 3,531,326	A223D	possibly damaging	Het
Spen	T	C	4: 141,470,343	T3405A	probably benign	Het
Srebf1	A	G	11: 60,203,486	L601P	probably damaging	Het
Srsf11	A	T	3: 158,031,580		probably benign	Het
Tacc2	T	G	7: 130,624,202	S891R	possibly damaging	Het
Tbc1d17	T	A	7: 44,841,633		probably benign	Het
Tgfbr3l	C	A	8: 4,249,600	R128S	probably damaging	Het
Thsd1	G	A	8: 22,252,318		probably benign	Het
Tlx3	T	C	11: 33,203,072	S130G	probably benign	Het
Tmem25	A	T	9: 44,798,216		probably null	Het
Trak2	A	T	1: 58,946,336	M1K	probably null	Het
Trappc12	C	T	12: 28,746,985	E183K	probably damaging	Het
Ubl3	A	G	5: 148,509,280	V71A	possibly damaging	Het
Unc50	A	G	1: 37,438,799	Y254C	probably damaging	Het
Unkl	T	C	17: 25,229,460		probably null	Het
Uso1	T	A	5: 92,201,192	S819T	probably benign	Het
Yes1	A	T	5: 32,645,051	R103S	probably damaging	Het
Zfp131	A	G	13: 119,767,025	V396A	probably damaging	Het
Zfp553	T	C	7: 127,235,654	I127T	possibly damaging	Het
Zfp599	A	T	9: 22,251,549	N102K	probably benign	Het
Zmynd10	A	T	9: 107,550,037	Q288L	probably benign	Het

Other mutations in Cntn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Cntn4	APN	6	106506225	missense	probably damaging	1.00
IGL00725:Cntn4	APN	6	106662655	missense	probably damaging	1.00
IGL01062:Cntn4	APN	6	106618278	splice site	probably benign
IGL01432:Cntn4	APN	6	106678334	splice site	probably benign
IGL01585:Cntn4	APN	6	106618328	nonsense	probably null
IGL01710:Cntn4	APN	6	106550431	missense	possibly damaging	0.87
IGL01870:Cntn4	APN	6	106489715	missense	possibly damaging	0.95
IGL01933:Cntn4	APN	6	106694384	missense	probably damaging	0.99
IGL01937:Cntn4	APN	6	106437904	missense	probably damaging	1.00
IGL01945:Cntn4	APN	6	106437904	missense	probably damaging	1.00
IGL02007:Cntn4	APN	6	106655529	missense	probably benign	0.03
IGL02506:Cntn4	APN	6	106618388	missense	probably benign	0.24
IGL02561:Cntn4	APN	6	106523509	missense	probably damaging	1.00
IGL03080:Cntn4	APN	6	106655539	missense	probably damaging	1.00
IGL03338:Cntn4	APN	6	106655589	missense	probably damaging	0.98
IGL03097:Cntn4	UTSW	6	106353712	missense	probably benign	0.10
LCD18:Cntn4	UTSW	6	106553940	intron	probably benign
R0083:Cntn4	UTSW	6	106525369	missense	possibly damaging	0.79
R0098:Cntn4	UTSW	6	106618424	splice site	probably benign
R0501:Cntn4	UTSW	6	106618335	missense	probably damaging	1.00
R0626:Cntn4	UTSW	6	106662578	missense	probably benign	0.07
R0633:Cntn4	UTSW	6	106679248	splice site	probably null
R0730:Cntn4	UTSW	6	106550486	missense	probably damaging	1.00
R0849:Cntn4	UTSW	6	106667457	missense	probably damaging	1.00
R0883:Cntn4	UTSW	6	106667540	splice site	probably benign
R0926:Cntn4	UTSW	6	106655581	missense	probably benign	0.21
R1199:Cntn4	UTSW	6	106353597	splice site	probably benign
R1293:Cntn4	UTSW	6	106353724	missense	probably benign	0.00
R1296:Cntn4	UTSW	6	106509402	missense	probably damaging	1.00
R1344:Cntn4	UTSW	6	106344870	splice site	probably null
R1418:Cntn4	UTSW	6	106344870	splice site	probably null
R1660:Cntn4	UTSW	6	106679297	missense	probably benign	0.35
R1751:Cntn4	UTSW	6	106618410	critical splice donor site	probably null
R1883:Cntn4	UTSW	6	106679392	missense	probably benign	0.01
R1884:Cntn4	UTSW	6	106679392	missense	probably benign	0.01
R1906:Cntn4	UTSW	6	106353646	missense	probably benign	0.00
R2048:Cntn4	UTSW	6	106437864	splice site	probably benign
R2113:Cntn4	UTSW	6	106489697	missense	probably damaging	1.00
R3177:Cntn4	UTSW	6	106437964	critical splice donor site	probably null
R3277:Cntn4	UTSW	6	106437964	critical splice donor site	probably null
R3944:Cntn4	UTSW	6	106618414	missense	probably benign	0.10
R4401:Cntn4	UTSW	6	106489664	missense	possibly damaging	0.94
R4540:Cntn4	UTSW	6	106675748	missense	probably damaging	1.00
R4688:Cntn4	UTSW	6	106437949	missense	probably damaging	1.00
R4697:Cntn4	UTSW	6	106525485	missense	probably damaging	1.00
R4810:Cntn4	UTSW	6	106655611	missense	probably benign	0.04
R4816:Cntn4	UTSW	6	106550497	missense	probably benign
R4873:Cntn4	UTSW	6	106437913	missense	possibly damaging	0.61
R4875:Cntn4	UTSW	6	106437913	missense	possibly damaging	0.61
R4953:Cntn4	UTSW	6	106525418	missense	probably benign	0.01
R5288:Cntn4	UTSW	6	106181804	missense	possibly damaging	0.60
R5336:Cntn4	UTSW	6	106662634	missense	possibly damaging	0.72
R5386:Cntn4	UTSW	6	106181804	missense	possibly damaging	0.60
R5477:Cntn4	UTSW	6	106673950	missense	possibly damaging	0.88
R5514:Cntn4	UTSW	6	106672883	missense	probably damaging	1.00
R5668:Cntn4	UTSW	6	106679436	splice site	silent
R6334:Cntn4	UTSW	6	106344786	missense	probably benign
R6334:Cntn4	UTSW	6	106506192	missense	probably benign	0.29
R6904:Cntn4	UTSW	6	106697583	missense	probably benign	0.03
R6985:Cntn4	UTSW	6	106679417	missense	probably benign	0.03
R7246:Cntn4	UTSW	6	106506219	missense	probably damaging	1.00
R7282:Cntn4	UTSW	6	106525460	missense	probably damaging	0.99
R7585:Cntn4	UTSW	6	106489611	missense	probably damaging	1.00
R7667:Cntn4	UTSW	6	106679895	missense	possibly damaging	0.83
R7781:Cntn4	UTSW	6	106523614	missense	probably damaging	1.00
R7882:Cntn4	UTSW	6	106353723	missense	probably benign
R8081:Cntn4	UTSW	6	106674607	missense	possibly damaging	0.95
R8105:Cntn4	UTSW	6	106353606	missense	probably damaging	1.00
R8221:Cntn4	UTSW	6	106509510	missense	probably benign	0.17
R8910:Cntn4	UTSW	6	106655536	missense	probably benign	0.10
R8911:Cntn4	UTSW	6	106353782	critical splice donor site	probably null
R8916:Cntn4	UTSW	6	106675954	missense	probably damaging	0.99
R9249:Cntn4	UTSW	6	106489761	missense	possibly damaging	0.95
R9376:Cntn4	UTSW	6	106662630	missense	probably damaging	1.00
R9616:Cntn4	UTSW	6	106697564	nonsense	probably null
R9767:Cntn4	UTSW	6	106678434	missense	probably benign	0.40
Z1176:Cntn4	UTSW	6	106509464	missense	probably benign	0.28
Z1176:Cntn4	UTSW	6	106523563	missense	probably benign	0.00
Z1177:Cntn4	UTSW	6	106550425	missense	probably damaging	1.00
Z1177:Cntn4	UTSW	6	106662618	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCCGGCAAGTAAAACCC -3'
(R):5'- TCGAGGTAGCATGAACCATAC -3'

Sequencing Primer
(F):5'- GTCTTTAGCAGTTGAATCACCCGAAG -3'
(R):5'- GAGGTAGCATGAACCATACCTTCTTC -3'

Posted On

2014-07-14