Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02561:Cntn4'

298672

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntn4

Ensembl Gene

ENSMUSG00000064293

Gene Name

contactin 4

Synonyms

BIG-2A, Axcam

Accession Numbers

Essential gene?

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

Stock #

IGL02561

Quality Score

Status

Chromosome

Chromosomal Location

105654621-106676271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106500470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 316 (P316S)

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: P316S

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

SMART Domains

Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
AA Change: P316S

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: P316S

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

SMART Domains

Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: P316S

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: P316S

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

SMART Domains

Protein: ENSMUSP00000108883
Gene: ENSMUSG00000064293
AA Change: P316S

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: P316S

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

SMART Domains

Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293
AA Change: P316S

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: P316S

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

SMART Domains

Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293
AA Change: P316S

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: P316S

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

SMART Domains

Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: P316S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132395

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,125,536 (GRCm39)	Q49L	probably benign	Het
Aifm2	A	G	10: 61,561,786 (GRCm39)	D44G	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cmya5	T	C	13: 93,228,366 (GRCm39)	T2241A	probably benign	Het
Ctnna2	G	T	6: 77,822,563 (GRCm39)	S13R	probably benign	Het
Cyb5a	G	A	18: 84,889,637 (GRCm39)	G46D	probably damaging	Het
Daam1	T	C	12: 71,993,290 (GRCm39)	V353A	unknown	Het
Ddx6	C	T	9: 44,545,465 (GRCm39)	T417I	probably damaging	Het
Fcgbp	C	T	7: 27,800,599 (GRCm39)		probably benign	Het
Gdi2	T	C	13: 3,598,954 (GRCm39)	I46T	possibly damaging	Het
Gm3629	T	C	14: 17,805,586 (GRCm39)		probably benign	Het
Grap2	A	T	15: 80,532,049 (GRCm39)		probably benign	Het
Gsto2	T	C	19: 47,874,629 (GRCm39)		probably benign	Het
Gtf2a1	A	T	12: 91,542,527 (GRCm39)	D57E	possibly damaging	Het
Hif1a	A	G	12: 73,988,980 (GRCm39)	I622M	possibly damaging	Het
Hmcn1	T	C	1: 150,685,477 (GRCm39)	T328A	probably benign	Het
Ighv1-54	T	C	12: 115,157,389 (GRCm39)	K86R	probably benign	Het
Igkv4-55	C	T	6: 69,584,360 (GRCm39)	S84N	probably damaging	Het
Ilvbl	T	C	10: 78,412,978 (GRCm39)	S167P	probably benign	Het
Kcnn2	A	G	18: 45,725,259 (GRCm39)	I252V	possibly damaging	Het
Lss	T	C	10: 76,376,264 (GRCm39)		probably benign	Het
Mlip	C	A	9: 77,088,633 (GRCm39)		probably null	Het
Ncbp1	C	T	4: 46,159,711 (GRCm39)	T408M	possibly damaging	Het
Notch4	A	G	17: 34,787,134 (GRCm39)		probably benign	Het
Npepps	A	T	11: 97,120,675 (GRCm39)	C528*	probably null	Het
Nxf2	T	C	X: 133,857,201 (GRCm39)	T163A	probably benign	Het
Or4c119	T	C	2: 88,987,485 (GRCm39)	I11M	possibly damaging	Het
Phka1	A	T	X: 101,641,895 (GRCm39)		probably benign	Het
Ptpn13	T	G	5: 103,710,157 (GRCm39)	L1564R	probably damaging	Het
Robo3	A	G	9: 37,338,387 (GRCm39)	S343P	possibly damaging	Het
Smarca2	A	G	19: 26,693,582 (GRCm39)	D1262G	possibly damaging	Het
Spns1	C	T	7: 125,972,941 (GRCm39)		probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ttpal	A	G	2: 163,449,369 (GRCm39)	T75A	probably damaging	Het
Usp34	A	G	11: 23,301,652 (GRCm39)	T359A	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zic2	A	T	14: 122,715,957 (GRCm39)	K360*	probably null	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
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
R4401:Cntn4	UTSW	6	106,466,625 (GRCm39)	missense	possibly damaging	0.94
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

Posted On

2015-04-16