Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02565:Cntn5'

298790

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 #

IGL02565

Quality Score

Status

Chromosome

Chromosomal Location

9660896-10904780 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 10145343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 122 (C122*)

Ref Sequence

ENSEMBL: ENSMUSP00000124327 (fasta)

Gene Model

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

AlphaFold

P68500

Predicted Effect

probably null
Transcript: ENSMUST00000074133
AA Change: C122*

SMART Domains

Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488
AA Change: C122*

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 null
Transcript: ENSMUST00000160216
AA Change: C122*

SMART Domains

Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488
AA Change: C122*

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,302,677 (GRCm39)	S205R	probably benign	Het
Adora3	A	G	3: 105,815,128 (GRCm39)	T293A	probably benign	Het
App	T	C	16: 84,822,308 (GRCm39)		probably null	Het
Asap1	A	G	15: 64,001,014 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,777,770 (GRCm39)	V739E	probably damaging	Het
Bsn	A	G	9: 107,990,487 (GRCm39)	V1755A	probably damaging	Het
Clmp	A	C	9: 40,683,711 (GRCm39)	D147A	probably damaging	Het
Ctsb	T	G	14: 63,375,859 (GRCm39)	C198G	probably null	Het
Cyld	A	T	8: 89,467,919 (GRCm39)	R702S	probably damaging	Het
Cyp4v3	A	G	8: 45,773,674 (GRCm39)	V165A	possibly damaging	Het
Dpy19l4	C	A	4: 11,309,440 (GRCm39)	V59F	probably benign	Het
Eml1	A	T	12: 108,472,779 (GRCm39)	T196S	probably damaging	Het
Fam111a	T	A	19: 12,564,318 (GRCm39)	D22E	probably damaging	Het
Gigyf2	A	G	1: 87,369,858 (GRCm39)	H1150R	probably damaging	Het
Grk5	T	G	19: 61,057,809 (GRCm39)	F170V	probably damaging	Het
Heatr5a	A	C	12: 51,997,882 (GRCm39)	V339G	possibly damaging	Het
Hgd	T	A	16: 37,435,749 (GRCm39)	D153E	possibly damaging	Het
Ift70b	A	G	2: 75,768,247 (GRCm39)	Y169H	probably benign	Het
Igdcc3	T	A	9: 65,087,470 (GRCm39)	L336Q	probably damaging	Het
Jph2	T	C	2: 163,239,265 (GRCm39)	E61G	probably damaging	Het
Ktn1	A	T	14: 47,910,391 (GRCm39)		probably benign	Het
Lrch3	T	A	16: 32,826,084 (GRCm39)	D634E	probably benign	Het
Marchf6	T	C	15: 31,490,712 (GRCm39)		probably benign	Het
Misp	T	A	10: 79,662,177 (GRCm39)	I198N	probably benign	Het
Mmp14	C	T	14: 54,678,014 (GRCm39)	P545L	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Muc5b	T	C	7: 141,411,604 (GRCm39)	S1517P	unknown	Het
Nae1	A	T	8: 105,237,841 (GRCm39)	N518K	probably damaging	Het
Pglyrp4	A	T	3: 90,642,794 (GRCm39)	D225V	probably benign	Het
Pgpep1	A	G	8: 71,105,119 (GRCm39)	I47T	probably damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pitpnc1	G	A	11: 107,187,059 (GRCm39)	T88I	probably damaging	Het
Poldip2	T	C	11: 78,408,678 (GRCm39)	I181T	probably damaging	Het
Ppfia2	T	C	10: 106,699,247 (GRCm39)		probably null	Het
Rasal1	A	G	5: 120,814,845 (GRCm39)		probably benign	Het
Rbms1	A	G	2: 60,590,123 (GRCm39)	Y305H	probably benign	Het
Rnf123	A	C	9: 107,929,411 (GRCm39)		probably null	Het
Sec14l3	G	A	11: 4,026,237 (GRCm39)		probably benign	Het
Slc2a10	A	C	2: 165,357,000 (GRCm39)	D220A	probably damaging	Het
Slc38a8	T	C	8: 120,212,300 (GRCm39)	T348A	probably damaging	Het
Slc4a5	T	C	6: 83,276,487 (GRCm39)	V1104A	probably benign	Het
Snrpe	T	C	1: 133,536,704 (GRCm39)		probably benign	Het
Th	C	A	7: 142,453,647 (GRCm39)	V18F	probably damaging	Het
Ubqln5	G	A	7: 103,778,279 (GRCm39)	Q182*	probably null	Het
Unc5c	T	C	3: 141,509,680 (GRCm39)	V646A	probably damaging	Het
Wasf1	A	G	10: 40,812,128 (GRCm39)	N306D	possibly damaging	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
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
IGL02976:Cntn5	APN	9	10,419,104 (GRCm39)	unclassified	probably benign
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

2015-04-16