Mutagenetix > Incidental Mutations

Incidental Mutation 'R4688:Cntn4'

353853

Institutional Source

Beutler Lab

Gene Symbol

Cntn4

Ensembl Gene

ENSMUSG00000064293

Gene Name

contactin 4

Synonyms

BIG-2A, Axcam

MMRRC Submission

041939-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.391) question?

Stock #

R4688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105677660-106699310 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106437949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 147 (P147L)

Ref Sequence

ENSEMBL: ENSMUSP00000108889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079416] [ENSMUST00000089208] [ENSMUST00000113258] [ENSMUST00000113260] [ENSMUST00000113261] [ENSMUST00000113264]

AlphaFold

Q69Z26

Predicted Effect

probably damaging
Transcript: ENSMUST00000079416
AA Change: P147L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
AA Change: P147L

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 damaging
Transcript: ENSMUST00000089208
AA Change: P147L

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

SMART Domains

Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: P147L

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 damaging
Transcript: ENSMUST00000113258
AA Change: P147L

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

SMART Domains

Protein: ENSMUSP00000108883
Gene: ENSMUSG00000064293
AA Change: P147L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113260
AA Change: P147L

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

SMART Domains

Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293
AA Change: P147L

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 damaging
Transcript: ENSMUST00000113261
AA Change: P147L

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

SMART Domains

Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293
AA Change: P147L

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 damaging
Transcript: ENSMUST00000113264
AA Change: P147L

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

SMART Domains

Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: P147L

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: ENSMUST00000125904

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,593,449	S530P	probably benign	Het
1700003E16Rik	A	G	6: 83,162,698	N535S	probably damaging	Het
2810403A07Rik	T	A	3: 88,686,517	M71K	probably damaging	Het
9930021J03Rik	A	G	19: 29,717,101	I1664T	probably benign	Het
Abcc12	T	C	8: 86,548,694	S452G	possibly damaging	Het
Acacb	C	A	5: 114,204,763	Q897K	probably benign	Het
Acot3	C	A	12: 84,053,917	R145S	probably damaging	Het
AI314180	A	G	4: 58,840,757	V667A	probably damaging	Het
Ankrd54	A	T	15: 79,054,582	Y247N	probably damaging	Het
Arl11	G	A	14: 61,311,097	V119I	probably benign	Het
Atxn7	T	A	14: 14,089,288	M268K	probably benign	Het
Bms1	G	A	6: 118,392,706	R934C	probably damaging	Het
Ccdc129	G	A	6: 55,967,147		probably null	Het
Chrnb3	T	C	8: 27,394,119	S295P	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 25,291,670		probably null	Het
Cnr1	A	T	4: 33,944,571	I320F	probably benign	Het
Col24a1	G	A	3: 145,314,383	V172I	probably benign	Het
Col9a3	A	G	2: 180,607,631	D262G	probably damaging	Het
Csrnp2	A	G	15: 100,482,360	V350A	probably damaging	Het
D630045J12Rik	A	G	6: 38,196,657	V192A	possibly damaging	Het
Deptor	A	G	15: 55,208,781	M219V	probably benign	Het
Dmrtb1	A	T	4: 107,684,050	L38Q	probably damaging	Het
Dvl2	G	A	11: 70,007,518	R367Q	possibly damaging	Het
Dync1h1	T	G	12: 110,655,528	I3435S	probably damaging	Het
Eif2b3	A	G	4: 117,058,849	N218D	probably benign	Het
Epha2	A	G	4: 141,318,981	D497G	probably benign	Het
Epha7	G	T	4: 28,821,367	L177F	probably damaging	Het
Fam214b	A	G	4: 43,034,663	F352S	probably damaging	Het
Fam98c	C	T	7: 29,155,241	E147K	probably damaging	Het
Fbxo17	A	G	7: 28,732,554	T19A	probably benign	Het
Fbxo47	A	G	11: 97,856,223	F339S	probably damaging	Het
Frmd4a	G	T	2: 4,537,311	V234L	possibly damaging	Het
Gal3st2	A	G	1: 93,872,523	D32G	probably damaging	Het
Gpr135	T	C	12: 72,070,946	T16A	probably benign	Het
Gpr160	A	T	3: 30,896,686	R302S	probably benign	Het
Hrh2	C	A	13: 54,214,801	N265K	probably benign	Het
Htatip2	C	A	7: 49,773,423	A242E	probably damaging	Het
Igfbp7	T	C	5: 77,407,635	Y127C	probably damaging	Het
Igkv16-104	A	G	6: 68,425,894	Q57R	possibly damaging	Het
Ino80c	A	G	18: 24,108,846	S161P	probably damaging	Het
Kcnc1	A	G	7: 46,397,835	D53G	probably benign	Het
Lce1h	G	T	3: 92,763,567	R93S	unknown	Het
Lce1k	T	C	3: 92,806,644	S78G	unknown	Het
Lhcgr	T	A	17: 88,765,152	I156F	probably damaging	Het
Lpl	T	C	8: 68,899,425	Y343H	probably damaging	Het
Lrp6	G	T	6: 134,479,743	R853S	probably damaging	Het
Lrrc7	A	G	3: 158,148,605	V1322A	probably damaging	Het
Lrrc74a	C	T	12: 86,737,698	Q67*	probably null	Het
Megf6	A	T	4: 154,253,814	D447V	probably damaging	Het
Mep1a	T	C	17: 43,482,248	D355G	possibly damaging	Het
Ncoa1	T	C	12: 4,315,781	D95G	probably benign	Het
Npepl1	A	T	2: 174,114,442	I139F	possibly damaging	Het
Nrcam	T	C	12: 44,547,237	S262P	probably benign	Het
Nrp1	A	G	8: 128,502,566	N842D	probably benign	Het
Olfml3	A	G	3: 103,732,181		probably benign	Het
Olfr1375	A	G	11: 51,048,988	R294G	probably damaging	Het
Olfr1505	A	T	19: 13,919,241	T74S	probably benign	Het
Olfr32	T	A	2: 90,138,999	N47Y	possibly damaging	Het
Olfr421-ps1	T	C	1: 174,151,596	Y27H	possibly damaging	Het
Olfr711	T	A	7: 106,971,861	Y161F	probably benign	Het
Olfr773	G	A	10: 129,186,645	P259S	probably damaging	Het
Olfr918	A	G	9: 38,673,363	L27P	probably damaging	Het
Pde2a	A	G	7: 101,502,834	N316S	probably benign	Het
Pde4dip	T	A	3: 97,843,677	R74*	probably null	Het
Pex13	A	T	11: 23,655,472	W253R	possibly damaging	Het
Piezo1	A	T	8: 122,488,539	W1444R	probably damaging	Het
Pla2g4e	T	C	2: 120,167,933	K843R	possibly damaging	Het
Plxna2	C	T	1: 194,644,445	P229L	probably damaging	Het
Prelid3b	G	T	2: 174,466,799	T131K	probably benign	Het
Pros1	T	C	16: 62,889,007		probably null	Het
Prrc2c	G	T	1: 162,697,687	P450Q	unknown	Het
Ptbp1	G	T	10: 79,856,508	V5F	possibly damaging	Het
Ptk2	T	A	15: 73,206,225	L997F	probably damaging	Het
Rims1	G	T	1: 22,479,447	S525*	probably null	Het
Sh2b3	T	A	5: 121,818,634	D318V	probably benign	Het
Slc16a13	A	T	11: 70,220,275	I88N	probably damaging	Het
Slit2	T	A	5: 48,257,003		probably null	Het
Snx10	A	G	6: 51,579,938	N67S	probably damaging	Het
Stil	A	G	4: 115,041,308	Y1045C	probably damaging	Het
Stra6	A	G	9: 58,135,076		probably null	Het
Sympk	A	G	7: 19,054,410	S1254G	probably benign	Het
Syt15	G	T	14: 34,228,054	G377V	probably damaging	Het
Taar4	A	T	10: 23,960,833	I114F	probably damaging	Het
Tcaf3	G	A	6: 42,593,366		probably null	Het
Tgm7	A	T	2: 121,094,021	N558K	probably benign	Het
Tln2	T	G	9: 67,397,653	M1L	probably benign	Het
Trim50	C	T	5: 135,367,140	T314I	probably damaging	Het
Trp53rka	A	T	2: 165,491,392	Y192*	probably null	Het
Ube3b	T	C	5: 114,393,078	V211A	probably benign	Het
Ush2a	A	G	1: 188,399,941	S787G	probably benign	Het
Vmn1r189	T	C	13: 22,102,119	M183V	probably damaging	Het
Vps13d	G	T	4: 145,178,212	Q115K	probably benign	Het
Zfp358	A	G	8: 3,495,493	D25G	probably damaging	Het
Zfp521	T	G	18: 13,844,590	K922T	probably damaging	Het
Zfp521	T	A	18: 13,844,591	K922*	probably null	Het
Zfp68	T	A	5: 138,616,481	K4*	probably null	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
R1899:Cntn4	UTSW	6	106675813	missense	probably benign	0.21
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
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
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'- CACAGCTACCTTCTGGGAAATTGTC -3'
(R):5'- TGTGCCAGGCATATGGTGAC -3'

Sequencing Primer
(F):5'- GAAATTGTCATAGTGCCCCATGG -3'
(R):5'- TGATACTGTCCCCTCAGTA -3'

Posted On

2015-10-21