Mutagenetix > Incidental Mutation

Incidental Mutation 'R5336:Cntn4'

423521

Institutional Source

Beutler Lab

Gene Symbol

Cntn4

Ensembl Gene

ENSMUSG00000064293

Gene Name

contactin 4

Synonyms

BIG-2A, Axcam

MMRRC Submission

042844-MU

Accession Numbers

Essential gene?

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

Stock #

R5336 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105654621-106676271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106639595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 575 (V575A)

Ref Sequence

ENSEMBL: ENSMUSP00000078385 (fasta)

Gene Model

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

AlphaFold

Q69Z26

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079416
AA Change: V575A

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
AA Change: V575A

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: V575A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: V575A

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
AA Change: V575A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293
AA Change: V575A

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
AA Change: V575A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293
AA Change: V575A

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: V575A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: V575A

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: ENSMUST00000132395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204621

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,100,495 (GRCm39)	E289D	probably damaging	Het
Acyp1	A	T	12: 85,326,785 (GRCm39)	F80I	probably damaging	Het
Anapc5	T	C	5: 122,945,400 (GRCm39)	N226S	probably damaging	Het
Ankhd1	T	A	18: 36,779,769 (GRCm39)	S1704T	probably damaging	Het
Btnl5-ps	T	C	17: 34,711,371 (GRCm39)		noncoding transcript	Het
Cacna1h	T	C	17: 25,611,205 (GRCm39)	H531R	probably damaging	Het
Chpf	C	A	1: 75,452,351 (GRCm39)	A368S	possibly damaging	Het
Col5a3	A	T	9: 20,710,597 (GRCm39)	F551I	unknown	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Dcxr	A	G	11: 120,618,002 (GRCm39)		probably null	Het
Ddost	T	C	4: 138,036,741 (GRCm39)	Y147H	possibly damaging	Het
Eif2ak2	A	G	17: 79,181,472 (GRCm39)	F92L	probably benign	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
H2-T23	T	A	17: 36,342,550 (GRCm39)	N196I	possibly damaging	Het
Ighv9-2	A	C	12: 114,072,905 (GRCm39)	F23V	probably benign	Het
Igsf10	T	C	3: 59,227,553 (GRCm39)	E2040G	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Myh4	A	G	11: 67,150,017 (GRCm39)		probably null	Het
Nlrp2	T	C	7: 5,331,118 (GRCm39)	D426G	probably benign	Het
Or1a1	T	C	11: 74,086,859 (GRCm39)	F177L	probably damaging	Het
Otof	T	C	5: 30,534,064 (GRCm39)	D1415G	probably benign	Het
Ppig	T	C	2: 69,580,568 (GRCm39)	S701P	unknown	Het
Ptprf	A	G	4: 118,092,831 (GRCm39)	I528T	probably damaging	Het
Scara3	A	G	14: 66,168,487 (GRCm39)	Y377H	probably damaging	Het
Slf1	A	T	13: 77,254,129 (GRCm39)	*176R	probably null	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Tarm1	T	C	7: 3,546,084 (GRCm39)	Y61C	probably damaging	Het
Tle4	A	G	19: 14,432,103 (GRCm39)		probably null	Het
Tlr1	A	T	5: 65,083,145 (GRCm39)	N477K	probably damaging	Het
Tns2	C	T	15: 102,019,664 (GRCm39)	T518M	probably damaging	Het
Trim50	C	T	5: 135,396,330 (GRCm39)	T426M	probably damaging	Het
Vmn2r85	T	C	10: 130,258,574 (GRCm39)	I494V	possibly damaging	Het
Wdr17	T	A	8: 55,085,353 (GRCm39)	I1257F	probably damaging	Het
Zfp874a	T	C	13: 67,590,799 (GRCm39)	H295R	probably damaging	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
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
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'- AATAGCCGTGGCATGCATCAC -3'
(R):5'- GACTGTTAATCACTATGCACTATGG -3'

Sequencing Primer
(F):5'- CGTGGCATGCATCACTAATG -3'
(R):5'- CACTATGCACTATGGTTAACTTATGC -3'

Posted On

2016-08-04