Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02976:Cntn5'

406412

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntn5

Ensembl Gene

ENSMUSG00000039488

Gene Name

contactin 5

Synonyms

A830025P08Rik, 6720426O10Rik, NB-2, LOC244683

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02976

Quality Score

Status

Chromosome

Chromosomal Location

9660896-10904780 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 10419104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074133] [ENSMUST00000160216] [ENSMUST00000162484] [ENSMUST00000179049]

AlphaFold

P68500

Predicted Effect

probably benign
Transcript: ENSMUST00000074133

SMART Domains

Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IGc2	113	179	1.11e-10	SMART
IG	201	289	4.82e-6	SMART
IGc2	312	375	1.4e-16	SMART
IGc2	401	464	8.97e-15	SMART
IGc2	493	557	4.96e-8	SMART
IG	577	667	2.13e-7	SMART
FN3	670	756	1.01e-11	SMART
FN3	773	859	9.19e-1	SMART
FN3	875	958	3.99e-10	SMART
FN3	974	1053	1.68e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160216

SMART Domains

Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IGc2	113	179	1.11e-10	SMART
IG	201	289	4.82e-6	SMART
IGc2	312	375	1.4e-16	SMART
IGc2	401	464	8.97e-15	SMART
IGc2	493	557	4.96e-8	SMART
IG	577	667	2.13e-7	SMART
FN3	670	756	1.01e-11	SMART
FN3	773	859	9.19e-1	SMART
FN3	875	958	3.99e-10	SMART
FN3	974	1053	1.68e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162484

SMART Domains

Protein: ENSMUSP00000124214
Gene: ENSMUSG00000039488

Domain	Start	End	E-Value	Type
IG_like	10	84	1.12e2	SMART
IGc2	107	170	1.4e-16	SMART
IGc2	196	259	8.97e-15	SMART
IGc2	288	352	4.96e-8	SMART
IG	372	462	2.13e-7	SMART
FN3	465	551	1.01e-11	SMART
FN3	568	654	9.19e-1	SMART
FN3	670	753	3.99e-10	SMART
FN3	769	848	1.68e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179049

SMART Domains

Protein: ENSMUSP00000135903
Gene: ENSMUSG00000039488

Domain	Start	End	E-Value	Type
IG_like	10	84	1.12e2	SMART
IGc2	107	170	1.4e-16	SMART
IGc2	196	259	8.97e-15	SMART
IGc2	288	352	4.96e-8	SMART
IG	372	462	2.13e-7	SMART
FN3	465	551	1.01e-11	SMART
FN3	568	654	9.19e-1	SMART
FN3	670	753	3.99e-10	SMART
FN3	769	848	1.68e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice are viable, fertile, and less susceptible to audiogenic seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	G	9: 101,816,845 (GRCm39)	T84A	possibly damaging	Het
Adgrd1	T	A	5: 129,208,661 (GRCm39)	S288T	probably benign	Het
Ano7	T	A	1: 93,330,395 (GRCm39)	D806E	possibly damaging	Het
Arl6	A	G	16: 59,444,259 (GRCm39)	L79P	probably damaging	Het
Card6	A	T	15: 5,129,310 (GRCm39)	C695*	probably null	Het
Carmil1	T	C	13: 24,276,534 (GRCm39)	N610S	possibly damaging	Het
Cdc40	A	G	10: 40,758,917 (GRCm39)	V52A	probably benign	Het
Chd4	G	A	6: 125,098,331 (GRCm39)	R369H	probably damaging	Het
Clasp2	C	T	9: 113,735,204 (GRCm39)	P1031L	probably damaging	Het
Cldn34d	C	T	X: 75,626,690 (GRCm39)	A121T	probably benign	Het
Clmp	A	C	9: 40,692,520 (GRCm39)	Y263S	possibly damaging	Het
Folh1	A	T	7: 86,412,126 (GRCm39)	M215K	probably benign	Het
Fut1	C	T	7: 45,268,744 (GRCm39)	R233C	probably damaging	Het
Gcdh	A	C	8: 85,615,207 (GRCm39)	Y398D	probably damaging	Het
Gm26741	T	G	10: 52,234,910 (GRCm39)	S16R	possibly damaging	Het
Jph3	T	A	8: 122,479,823 (GRCm39)	L167Q	probably damaging	Het
Jup	A	G	11: 100,269,192 (GRCm39)	V407A	probably benign	Het
Kif17	C	T	4: 137,996,374 (GRCm39)	A117V	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Magi2	C	T	5: 20,739,473 (GRCm39)	P349S	probably damaging	Het
Mlycd	T	C	8: 120,128,224 (GRCm39)	M177T	possibly damaging	Het
Mocos	A	G	18: 24,799,626 (GRCm39)	K287E	possibly damaging	Het
Morc2b	T	A	17: 33,356,497 (GRCm39)	H425L	possibly damaging	Het
Mrpl9	T	A	3: 94,355,084 (GRCm39)		probably benign	Het
Myo3a	G	A	2: 22,434,494 (GRCm39)	W825*	probably null	Het
Npas2	T	C	1: 39,326,565 (GRCm39)	S17P	probably damaging	Het
Nrk	A	G	X: 137,892,817 (GRCm39)	I1174V	probably benign	Het
Or1e32	A	G	11: 73,705,143 (GRCm39)	I255T	probably damaging	Het
Or4d11	A	T	19: 12,013,337 (GRCm39)	Y256*	probably null	Het
Or4k2	G	A	14: 50,423,889 (GRCm39)	Q262*	probably null	Het
Parpbp	A	G	10: 87,947,456 (GRCm39)		probably null	Het
Pcdh10	T	C	3: 45,334,448 (GRCm39)	V254A	possibly damaging	Het
Plod1	C	T	4: 147,997,778 (GRCm39)	V644I	probably damaging	Het
Ptpn1	T	C	2: 167,813,704 (GRCm39)	V149A	probably benign	Het
Rassf4	T	C	6: 116,615,209 (GRCm39)	E320G	probably damaging	Het
Rgl2	T	A	17: 34,152,936 (GRCm39)	D448E	possibly damaging	Het
Rnf32	C	T	5: 29,411,710 (GRCm39)		probably null	Het
Rpa1	T	A	11: 75,203,628 (GRCm39)	D358V	probably damaging	Het
Sdk2	T	C	11: 113,742,668 (GRCm39)	N747S	probably damaging	Het
Slc17a4	A	C	13: 24,089,407 (GRCm39)	M170R	probably damaging	Het
Slc5a4a	G	A	10: 76,006,527 (GRCm39)	V310M	possibly damaging	Het
Spag9	G	A	11: 93,974,779 (GRCm39)	R463H	probably benign	Het
Spmip5	A	T	19: 58,777,552 (GRCm39)	V78E	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Syt10	A	G	15: 89,698,682 (GRCm39)	S221P	probably benign	Het
Tlk1	T	A	2: 70,551,935 (GRCm39)	K579*	probably null	Het
Tubgcp3	T	C	8: 12,682,300 (GRCm39)	Y673C	probably damaging	Het
Vmn1r223	T	C	13: 23,434,165 (GRCm39)	F253S	probably damaging	Het
Vmn2r83	T	C	10: 79,304,832 (GRCm39)	M14T	probably benign	Het
Zfp59	A	G	7: 27,552,821 (GRCm39)	D91G	probably benign	Het

Other mutations in Cntn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Cntn5	APN	9	9,976,302 (GRCm39)	missense	probably damaging	0.99
IGL01118:Cntn5	APN	9	9,831,565 (GRCm39)	missense	possibly damaging	0.94
IGL01328:Cntn5	APN	9	9,781,773 (GRCm39)	missense	probably damaging	1.00
IGL01445:Cntn5	APN	9	9,693,489 (GRCm39)	splice site	probably benign
IGL01505:Cntn5	APN	9	9,706,092 (GRCm39)	missense	probably damaging	1.00
IGL01556:Cntn5	APN	9	9,673,913 (GRCm39)	missense	probably benign
IGL01804:Cntn5	APN	9	9,831,542 (GRCm39)	missense	probably damaging	0.99
IGL02173:Cntn5	APN	9	9,748,401 (GRCm39)	missense	probably damaging	1.00
IGL02250:Cntn5	APN	9	10,145,336 (GRCm39)	missense	probably damaging	1.00
IGL02366:Cntn5	APN	9	9,984,060 (GRCm39)	splice site	probably benign
IGL02565:Cntn5	APN	9	10,145,343 (GRCm39)	nonsense	probably null
IGL02593:Cntn5	APN	9	9,833,504 (GRCm39)	missense	probably damaging	1.00
IGL02743:Cntn5	APN	9	9,984,115 (GRCm39)	missense	probably damaging	1.00
IGL03103:Cntn5	APN	9	9,972,817 (GRCm39)	splice site	probably benign
IGL03114:Cntn5	APN	9	9,748,457 (GRCm39)	missense	probably damaging	1.00
IGL03156:Cntn5	APN	9	9,673,882 (GRCm39)	missense	probably damaging	1.00
IGL02802:Cntn5	UTSW	9	10,048,683 (GRCm39)	splice site	probably null
R0243:Cntn5	UTSW	9	9,781,780 (GRCm39)	missense	probably damaging	1.00
R0385:Cntn5	UTSW	9	9,972,875 (GRCm39)	missense	probably damaging	1.00
R0541:Cntn5	UTSW	9	9,673,407 (GRCm39)	splice site	probably benign
R0827:Cntn5	UTSW	9	9,666,943 (GRCm39)	missense	possibly damaging	0.88
R1029:Cntn5	UTSW	9	9,831,577 (GRCm39)	missense	probably damaging	1.00
R1440:Cntn5	UTSW	9	10,145,344 (GRCm39)	missense	probably damaging	1.00
R1463:Cntn5	UTSW	9	9,673,801 (GRCm39)	critical splice donor site	probably null
R1536:Cntn5	UTSW	9	9,976,321 (GRCm39)	missense	possibly damaging	0.78
R1746:Cntn5	UTSW	9	9,831,577 (GRCm39)	missense	probably damaging	1.00
R1761:Cntn5	UTSW	9	10,172,059 (GRCm39)	missense	probably benign	0.01
R1764:Cntn5	UTSW	9	9,673,988 (GRCm39)	missense	probably benign
R1859:Cntn5	UTSW	9	9,972,839 (GRCm39)	missense	probably damaging	1.00
R1888:Cntn5	UTSW	9	9,984,082 (GRCm39)	missense	possibly damaging	0.95
R1888:Cntn5	UTSW	9	9,984,082 (GRCm39)	missense	possibly damaging	0.95
R1950:Cntn5	UTSW	9	9,781,774 (GRCm39)	missense	probably damaging	1.00
R2143:Cntn5	UTSW	9	9,748,420 (GRCm39)	missense	probably damaging	0.98
R2145:Cntn5	UTSW	9	9,748,420 (GRCm39)	missense	probably damaging	0.98
R2437:Cntn5	UTSW	9	10,048,758 (GRCm39)	nonsense	probably null
R2440:Cntn5	UTSW	9	10,171,960 (GRCm39)	missense	possibly damaging	0.91
R2504:Cntn5	UTSW	9	10,172,126 (GRCm39)	missense	probably benign
R3054:Cntn5	UTSW	9	10,419,076 (GRCm39)	missense	probably benign	0.30
R3056:Cntn5	UTSW	9	10,419,076 (GRCm39)	missense	probably benign	0.30
R3804:Cntn5	UTSW	9	9,781,668 (GRCm39)	splice site	probably benign
R4164:Cntn5	UTSW	9	9,781,681 (GRCm39)	missense	probably damaging	1.00
R4444:Cntn5	UTSW	9	9,704,947 (GRCm39)	missense	probably damaging	1.00
R4472:Cntn5	UTSW	9	10,048,776 (GRCm39)	missense	probably damaging	1.00
R4576:Cntn5	UTSW	9	9,673,297 (GRCm39)	missense	probably benign	0.10
R4624:Cntn5	UTSW	9	9,704,809 (GRCm39)	nonsense	probably null
R4652:Cntn5	UTSW	9	9,704,917 (GRCm39)	missense	possibly damaging	0.68
R4664:Cntn5	UTSW	9	10,144,214 (GRCm39)	missense	possibly damaging	0.71
R4679:Cntn5	UTSW	9	9,970,536 (GRCm39)	missense	probably benign	0.09
R4829:Cntn5	UTSW	9	9,976,288 (GRCm39)	missense	probably damaging	1.00
R4929:Cntn5	UTSW	9	9,976,400 (GRCm39)	critical splice acceptor site	probably null
R5211:Cntn5	UTSW	9	9,704,894 (GRCm39)	missense	possibly damaging	0.88
R5406:Cntn5	UTSW	9	9,833,465 (GRCm39)	missense	probably damaging	1.00
R5468:Cntn5	UTSW	9	9,743,633 (GRCm39)	missense	probably damaging	1.00
R5584:Cntn5	UTSW	9	9,661,457 (GRCm39)	missense	possibly damaging	0.91
R5688:Cntn5	UTSW	9	9,748,427 (GRCm39)	missense	probably damaging	1.00
R5762:Cntn5	UTSW	9	9,748,394 (GRCm39)	missense	possibly damaging	0.95
R6141:Cntn5	UTSW	9	10,144,162 (GRCm39)	missense	probably benign
R6147:Cntn5	UTSW	9	10,012,894 (GRCm39)	missense	probably damaging	0.98
R6325:Cntn5	UTSW	9	10,144,328 (GRCm39)	splice site	probably null
R6377:Cntn5	UTSW	9	9,743,657 (GRCm39)	missense	probably damaging	1.00
R6774:Cntn5	UTSW	9	10,144,222 (GRCm39)	missense	probably damaging	1.00
R7117:Cntn5	UTSW	9	10,904,704 (GRCm39)	start gained	probably benign
R7252:Cntn5	UTSW	9	9,831,640 (GRCm39)	missense	probably benign	0.00
R7363:Cntn5	UTSW	9	10,172,021 (GRCm39)	missense	probably benign	0.00
R7401:Cntn5	UTSW	9	9,833,466 (GRCm39)	missense	probably benign	0.13
R7488:Cntn5	UTSW	9	9,970,570 (GRCm39)	missense	probably damaging	0.99
R7548:Cntn5	UTSW	9	9,673,415 (GRCm39)	splice site	probably null
R7662:Cntn5	UTSW	9	9,661,390 (GRCm39)	missense	probably benign	0.17
R7718:Cntn5	UTSW	9	9,984,133 (GRCm39)	missense	probably benign
R7719:Cntn5	UTSW	9	9,704,903 (GRCm39)	missense	probably damaging	1.00
R7788:Cntn5	UTSW	9	9,704,934 (GRCm39)	missense	probably benign	0.01
R7864:Cntn5	UTSW	9	9,984,182 (GRCm39)	missense	probably damaging	0.98
R7937:Cntn5	UTSW	9	9,748,450 (GRCm39)	missense	probably damaging	1.00
R8117:Cntn5	UTSW	9	9,673,955 (GRCm39)	missense	probably benign	0.33
R8159:Cntn5	UTSW	9	10,145,386 (GRCm39)	missense	possibly damaging	0.91
R8349:Cntn5	UTSW	9	9,666,840 (GRCm39)	critical splice donor site	probably null
R8449:Cntn5	UTSW	9	9,666,840 (GRCm39)	critical splice donor site	probably null
R8779:Cntn5	UTSW	9	10,171,920 (GRCm39)	missense	probably benign
R8789:Cntn5	UTSW	9	9,673,292 (GRCm39)	missense	probably damaging	1.00
R8985:Cntn5	UTSW	9	10,171,960 (GRCm39)	missense	possibly damaging	0.91
R9370:Cntn5	UTSW	9	9,833,520 (GRCm39)	missense	probably benign	0.19
R9382:Cntn5	UTSW	9	9,673,817 (GRCm39)	missense	probably benign
R9781:Cntn5	UTSW	9	10,048,686 (GRCm39)	critical splice donor site	probably null
Z1177:Cntn5	UTSW	9	10,090,241 (GRCm39)	missense	probably damaging	1.00
Z1177:Cntn5	UTSW	9	9,673,967 (GRCm39)	nonsense	probably null

Posted On

2016-08-02