Mutagenetix > Incidental Mutation

Incidental Mutation 'R4401:Cntn4'

326629

Institutional Source

Beutler Lab

Gene Symbol

Cntn4

Ensembl Gene

ENSMUSG00000064293

Gene Name

contactin 4

Synonyms

BIG-2A, Axcam

MMRRC Submission

041132-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.318) question?

Stock #

R4401 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105654621-106676271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106466625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 176 (T176A)

Ref Sequence

ENSEMBL: ENSMUSP00000108889 (fasta)

Gene Model

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

AlphaFold

Q69Z26

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079416
AA Change: T176A

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
AA Change: T176A

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

possibly damaging
Transcript: ENSMUST00000089208
AA Change: T176A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: T176A

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

possibly damaging
Transcript: ENSMUST00000113258
AA Change: T176A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108883
Gene: ENSMUSG00000064293
AA Change: T176A

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

possibly damaging
Transcript: ENSMUST00000113260
AA Change: T176A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293
AA Change: T176A

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

possibly damaging
Transcript: ENSMUST00000113261
AA Change: T176A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293
AA Change: T176A

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

possibly damaging
Transcript: ENSMUST00000113264
AA Change: T176A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: T176A

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: 99.3%
3x: 98.5%
10x: 96.9%
20x: 94.1%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,752,390 (GRCm39)	I454V	possibly damaging	Het
Acvr2a	A	G	2: 48,789,714 (GRCm39)	T486A	probably benign	Het
Ap3b1	C	A	13: 94,554,607 (GRCm39)	L248I	probably damaging	Het
Atad2b	T	A	12: 4,990,145 (GRCm39)	C157S	probably damaging	Het
Cage1	T	A	13: 38,207,078 (GRCm39)	I256F	probably damaging	Het
Cct2	A	G	10: 116,893,714 (GRCm39)	I287T	possibly damaging	Het
Cracd	G	A	5: 76,996,763 (GRCm39)	V74I	probably damaging	Het
Cyp2c54	T	C	19: 40,060,615 (GRCm39)	N122S	probably benign	Het
Cytip	T	C	2: 58,023,947 (GRCm39)	D291G	probably benign	Het
Eef1d	C	T	15: 75,774,769 (GRCm39)	V213I	probably benign	Het
Fnbp4	A	G	2: 90,577,102 (GRCm39)	T145A	possibly damaging	Het
Fras1	C	A	5: 96,790,479 (GRCm39)	T951K	probably damaging	Het
Gm11937	C	T	11: 99,500,901 (GRCm39)	V39M	probably damaging	Het
Gm6712	C	T	17: 17,538,366 (GRCm39)		noncoding transcript	Het
Hira	A	G	16: 18,744,470 (GRCm39)	I352V	probably damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Lpcat2	T	C	8: 93,599,683 (GRCm39)	V217A	possibly damaging	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Or2a25	G	T	6: 42,889,260 (GRCm39)	E268*	probably null	Het
Or4k35	A	G	2: 111,100,178 (GRCm39)	F178S	probably damaging	Het
Or51f5	C	T	7: 102,424,006 (GRCm39)	R92*	probably null	Het
Pla2g1b	T	A	5: 115,608,947 (GRCm39)	Y47*	probably null	Het
Rfng	A	T	11: 120,673,306 (GRCm39)	V245E	possibly damaging	Het
Rpf2	A	G	10: 40,112,124 (GRCm39)	V104A	possibly damaging	Het
Rps6kc1	G	T	1: 190,532,155 (GRCm39)	H616N	probably benign	Het
Slc66a1	T	C	4: 139,033,854 (GRCm39)	I22V	probably benign	Het
Slc9b2	T	C	3: 135,042,305 (GRCm39)	V528A	probably benign	Het
Srgap1	T	C	10: 121,640,826 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,780,128 (GRCm39)	T3240A	possibly damaging	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Zfhx4	C	A	3: 5,468,405 (GRCm39)	Y2854*	probably null	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	Het

Other mutations in Cntn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Cntn4	APN	6	106,483,186 (GRCm39)	missense	probably damaging	1.00
IGL00725:Cntn4	APN	6	106,639,616 (GRCm39)	missense	probably damaging	1.00
IGL01062:Cntn4	APN	6	106,595,239 (GRCm39)	splice site	probably benign
IGL01432:Cntn4	APN	6	106,655,295 (GRCm39)	splice site	probably benign
IGL01585:Cntn4	APN	6	106,595,289 (GRCm39)	nonsense	probably null
IGL01710:Cntn4	APN	6	106,527,392 (GRCm39)	missense	possibly damaging	0.87
IGL01870:Cntn4	APN	6	106,466,676 (GRCm39)	missense	possibly damaging	0.95
IGL01933:Cntn4	APN	6	106,671,345 (GRCm39)	missense	probably damaging	0.99
IGL01937:Cntn4	APN	6	106,414,865 (GRCm39)	missense	probably damaging	1.00
IGL01945:Cntn4	APN	6	106,414,865 (GRCm39)	missense	probably damaging	1.00
IGL02007:Cntn4	APN	6	106,632,490 (GRCm39)	missense	probably benign	0.03
IGL02506:Cntn4	APN	6	106,595,349 (GRCm39)	missense	probably benign	0.24
IGL02561:Cntn4	APN	6	106,500,470 (GRCm39)	missense	probably damaging	1.00
IGL03080:Cntn4	APN	6	106,632,500 (GRCm39)	missense	probably damaging	1.00
IGL03338:Cntn4	APN	6	106,632,550 (GRCm39)	missense	probably damaging	0.98
IGL03097:Cntn4	UTSW	6	106,330,673 (GRCm39)	missense	probably benign	0.10
LCD18:Cntn4	UTSW	6	106,530,901 (GRCm39)	intron	probably benign
R0083:Cntn4	UTSW	6	106,502,330 (GRCm39)	missense	possibly damaging	0.79
R0098:Cntn4	UTSW	6	106,595,385 (GRCm39)	splice site	probably benign
R0501:Cntn4	UTSW	6	106,595,296 (GRCm39)	missense	probably damaging	1.00
R0626:Cntn4	UTSW	6	106,639,539 (GRCm39)	missense	probably benign	0.07
R0633:Cntn4	UTSW	6	106,656,209 (GRCm39)	splice site	probably null
R0730:Cntn4	UTSW	6	106,527,447 (GRCm39)	missense	probably damaging	1.00
R0849:Cntn4	UTSW	6	106,644,418 (GRCm39)	missense	probably damaging	1.00
R0883:Cntn4	UTSW	6	106,644,501 (GRCm39)	splice site	probably benign
R0926:Cntn4	UTSW	6	106,632,542 (GRCm39)	missense	probably benign	0.21
R1199:Cntn4	UTSW	6	106,330,558 (GRCm39)	splice site	probably benign
R1293:Cntn4	UTSW	6	106,330,685 (GRCm39)	missense	probably benign	0.00
R1296:Cntn4	UTSW	6	106,486,363 (GRCm39)	missense	probably damaging	1.00
R1344:Cntn4	UTSW	6	106,321,831 (GRCm39)	splice site	probably null
R1418:Cntn4	UTSW	6	106,321,831 (GRCm39)	splice site	probably null
R1660:Cntn4	UTSW	6	106,656,258 (GRCm39)	missense	probably benign	0.35
R1751:Cntn4	UTSW	6	106,595,371 (GRCm39)	critical splice donor site	probably null
R1883:Cntn4	UTSW	6	106,656,353 (GRCm39)	missense	probably benign	0.01
R1884:Cntn4	UTSW	6	106,656,353 (GRCm39)	missense	probably benign	0.01
R1899:Cntn4	UTSW	6	106,652,774 (GRCm39)	missense	probably benign	0.21
R1906:Cntn4	UTSW	6	106,330,607 (GRCm39)	missense	probably benign	0.00
R2048:Cntn4	UTSW	6	106,414,825 (GRCm39)	splice site	probably benign
R2113:Cntn4	UTSW	6	106,466,658 (GRCm39)	missense	probably damaging	1.00
R3177:Cntn4	UTSW	6	106,414,925 (GRCm39)	critical splice donor site	probably null
R3277:Cntn4	UTSW	6	106,414,925 (GRCm39)	critical splice donor site	probably null
R3944:Cntn4	UTSW	6	106,595,375 (GRCm39)	missense	probably benign	0.10
R4540:Cntn4	UTSW	6	106,652,709 (GRCm39)	missense	probably damaging	1.00
R4688:Cntn4	UTSW	6	106,414,910 (GRCm39)	missense	probably damaging	1.00
R4697:Cntn4	UTSW	6	106,502,446 (GRCm39)	missense	probably damaging	1.00
R4810:Cntn4	UTSW	6	106,632,572 (GRCm39)	missense	probably benign	0.04
R4816:Cntn4	UTSW	6	106,527,458 (GRCm39)	missense	probably benign
R4873:Cntn4	UTSW	6	106,414,874 (GRCm39)	missense	possibly damaging	0.61
R4875:Cntn4	UTSW	6	106,414,874 (GRCm39)	missense	possibly damaging	0.61
R4953:Cntn4	UTSW	6	106,502,379 (GRCm39)	missense	probably benign	0.01
R5288:Cntn4	UTSW	6	106,158,765 (GRCm39)	missense	possibly damaging	0.60
R5336:Cntn4	UTSW	6	106,639,595 (GRCm39)	missense	possibly damaging	0.72
R5386:Cntn4	UTSW	6	106,158,765 (GRCm39)	missense	possibly damaging	0.60
R5477:Cntn4	UTSW	6	106,650,911 (GRCm39)	missense	possibly damaging	0.88
R5514:Cntn4	UTSW	6	106,649,844 (GRCm39)	missense	probably damaging	1.00
R5668:Cntn4	UTSW	6	106,656,397 (GRCm39)	splice site	silent
R6334:Cntn4	UTSW	6	106,321,747 (GRCm39)	missense	probably benign
R6334:Cntn4	UTSW	6	106,483,153 (GRCm39)	missense	probably benign	0.29
R6904:Cntn4	UTSW	6	106,674,544 (GRCm39)	missense	probably benign	0.03
R6985:Cntn4	UTSW	6	106,656,378 (GRCm39)	missense	probably benign	0.03
R7246:Cntn4	UTSW	6	106,483,180 (GRCm39)	missense	probably damaging	1.00
R7282:Cntn4	UTSW	6	106,502,421 (GRCm39)	missense	probably damaging	0.99
R7585:Cntn4	UTSW	6	106,466,572 (GRCm39)	missense	probably damaging	1.00
R7667:Cntn4	UTSW	6	106,656,856 (GRCm39)	missense	possibly damaging	0.83
R7781:Cntn4	UTSW	6	106,500,575 (GRCm39)	missense	probably damaging	1.00
R7882:Cntn4	UTSW	6	106,330,684 (GRCm39)	missense	probably benign
R8081:Cntn4	UTSW	6	106,651,568 (GRCm39)	missense	possibly damaging	0.95
R8105:Cntn4	UTSW	6	106,330,567 (GRCm39)	missense	probably damaging	1.00
R8221:Cntn4	UTSW	6	106,486,471 (GRCm39)	missense	probably benign	0.17
R8910:Cntn4	UTSW	6	106,632,497 (GRCm39)	missense	probably benign	0.10
R8911:Cntn4	UTSW	6	106,330,743 (GRCm39)	critical splice donor site	probably null
R8916:Cntn4	UTSW	6	106,652,915 (GRCm39)	missense	probably damaging	0.99
R9249:Cntn4	UTSW	6	106,466,722 (GRCm39)	missense	possibly damaging	0.95
R9376:Cntn4	UTSW	6	106,639,591 (GRCm39)	missense	probably damaging	1.00
R9616:Cntn4	UTSW	6	106,674,525 (GRCm39)	nonsense	probably null
R9767:Cntn4	UTSW	6	106,655,395 (GRCm39)	missense	probably benign	0.40
Z1176:Cntn4	UTSW	6	106,500,524 (GRCm39)	missense	probably benign	0.00
Z1176:Cntn4	UTSW	6	106,486,425 (GRCm39)	missense	probably benign	0.28
Z1177:Cntn4	UTSW	6	106,639,579 (GRCm39)	missense	probably damaging	1.00
Z1177:Cntn4	UTSW	6	106,527,386 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCAGCAATCTAAGTTTCCAC -3'
(R):5'- TTCCAAAATGGGTTTGTGAGC -3'

Sequencing Primer
(F):5'- AGCAATCTAAGTTTCCACCTTGATC -3'
(R):5'- CCAAAATGGGTTTGTGAGCTTATTTC -3'

Posted On

2015-07-07