Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01118:Cntn5'

51953

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntn5

Ensembl Gene

ENSMUSG00000039488

Gene Name

contactin 5

Synonyms

NB-2, LOC244683, 6720426O10Rik, A830025P08Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01118

Quality Score

Status

Chromosome

Chromosomal Location

9660891-10904775 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9831560 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 605 (Y605C)

Ref Sequence

ENSEMBL: ENSMUSP00000124327 (fasta)

Gene Model

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

AlphaFold

P68500

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074133
AA Change: Y605C

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

SMART Domains

Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488
AA Change: Y605C

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

possibly damaging
Transcript: ENSMUST00000160216
AA Change: Y605C

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

SMART Domains

Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488
AA Change: Y605C

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

possibly damaging
Transcript: ENSMUST00000162484
AA Change: Y400C

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124214
Gene: ENSMUSG00000039488
AA Change: Y400C

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

possibly damaging
Transcript: ENSMUST00000179049
AA Change: Y400C

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135903
Gene: ENSMUSG00000039488
AA Change: Y400C

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	T	3: 124,401,409	R539Q	probably benign	Het
Abcb1a	G	A	5: 8,674,687	R40H	probably damaging	Het
Acan	T	A	7: 79,098,653	S1057R	possibly damaging	Het
Ahnak	A	T	19: 9,012,578	D3742V	probably damaging	Het
Amdhd1	A	T	10: 93,531,568	D241E	probably benign	Het
Dgcr14	A	T	16: 17,902,932	I350N	probably damaging	Het
Dnmt3l	T	C	10: 78,057,286	F299S	probably damaging	Het
G6pd2	A	T	5: 61,810,063	M394L	probably benign	Het
Gm21319	T	A	12: 87,773,442	N116Y	probably damaging	Het
Gm9839	A	T	1: 32,519,843	M386K	probably benign	Het
Gtf2h3	T	C	5: 124,595,668	V268A	probably damaging	Het
Hgs	T	C	11: 120,475,214	V195A	probably damaging	Het
Igkv3-2	A	T	6: 70,698,994	S96C	probably damaging	Het
Mgl2	A	G	11: 70,134,189	E12G	probably benign	Het
Mup11	A	T	4: 60,659,780	F153I	probably damaging	Het
Nf1	T	A	11: 79,546,986	C2057S	probably damaging	Het
Nkrf	A	G	X: 36,888,757	F624S	probably damaging	Het
Noto	T	C	6: 85,424,210	S74P	probably benign	Het
Olfr1090	A	G	2: 86,753,970	I256T	probably benign	Het
Pax8	T	C	2: 24,442,932		probably benign	Het
Psg28	A	T	7: 18,428,092	V162D	probably damaging	Het
Rai1	T	C	11: 60,187,438	F776S	probably damaging	Het
Taar8a	A	T	10: 24,076,861	H121L	probably damaging	Het
Tas2r113	A	G	6: 132,893,315	N102S	probably benign	Het
Trpm1	A	G	7: 64,235,824	T863A	probably benign	Het
Ttf2	A	G	3: 100,967,097		probably benign	Het
Wdr62	T	C	7: 30,242,781	H611R	probably damaging	Het
Wdr90	A	T	17: 25,854,687	L762Q	probably damaging	Het
Yeats2	T	G	16: 20,186,304	S364A	probably damaging	Het
Zdhhc15	G	T	X: 104,598,106	Q82K	probably benign	Het

Other mutations in Cntn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Cntn5	APN	9	9976297	missense	probably damaging	0.99
IGL01328:Cntn5	APN	9	9781768	missense	probably damaging	1.00
IGL01445:Cntn5	APN	9	9693484	splice site	probably benign
IGL01505:Cntn5	APN	9	9706087	missense	probably damaging	1.00
IGL01556:Cntn5	APN	9	9673908	missense	probably benign
IGL01804:Cntn5	APN	9	9831537	missense	probably damaging	0.99
IGL02173:Cntn5	APN	9	9748396	missense	probably damaging	1.00
IGL02250:Cntn5	APN	9	10145331	missense	probably damaging	1.00
IGL02366:Cntn5	APN	9	9984055	splice site	probably benign
IGL02565:Cntn5	APN	9	10145338	nonsense	probably null
IGL02593:Cntn5	APN	9	9833499	missense	probably damaging	1.00
IGL02743:Cntn5	APN	9	9984110	missense	probably damaging	1.00
IGL02976:Cntn5	APN	9	10419099	unclassified	probably benign
IGL03103:Cntn5	APN	9	9972812	splice site	probably benign
IGL03114:Cntn5	APN	9	9748452	missense	probably damaging	1.00
IGL03156:Cntn5	APN	9	9673877	missense	probably damaging	1.00
IGL02802:Cntn5	UTSW	9	10048678	splice site	probably null
R0243:Cntn5	UTSW	9	9781775	missense	probably damaging	1.00
R0385:Cntn5	UTSW	9	9972870	missense	probably damaging	1.00
R0541:Cntn5	UTSW	9	9673402	splice site	probably benign
R0827:Cntn5	UTSW	9	9666938	missense	possibly damaging	0.88
R1029:Cntn5	UTSW	9	9831572	missense	probably damaging	1.00
R1440:Cntn5	UTSW	9	10145339	missense	probably damaging	1.00
R1463:Cntn5	UTSW	9	9673796	critical splice donor site	probably null
R1536:Cntn5	UTSW	9	9976316	missense	possibly damaging	0.78
R1746:Cntn5	UTSW	9	9831572	missense	probably damaging	1.00
R1761:Cntn5	UTSW	9	10172054	missense	probably benign	0.01
R1764:Cntn5	UTSW	9	9673983	missense	probably benign
R1859:Cntn5	UTSW	9	9972834	missense	probably damaging	1.00
R1888:Cntn5	UTSW	9	9984077	missense	possibly damaging	0.95
R1888:Cntn5	UTSW	9	9984077	missense	possibly damaging	0.95
R1950:Cntn5	UTSW	9	9781769	missense	probably damaging	1.00
R2143:Cntn5	UTSW	9	9748415	missense	probably damaging	0.98
R2145:Cntn5	UTSW	9	9748415	missense	probably damaging	0.98
R2437:Cntn5	UTSW	9	10048753	nonsense	probably null
R2440:Cntn5	UTSW	9	10171955	missense	possibly damaging	0.91
R2504:Cntn5	UTSW	9	10172121	missense	probably benign
R3054:Cntn5	UTSW	9	10419071	missense	probably benign	0.30
R3056:Cntn5	UTSW	9	10419071	missense	probably benign	0.30
R3804:Cntn5	UTSW	9	9781663	splice site	probably benign
R4164:Cntn5	UTSW	9	9781676	missense	probably damaging	1.00
R4444:Cntn5	UTSW	9	9704942	missense	probably damaging	1.00
R4472:Cntn5	UTSW	9	10048771	missense	probably damaging	1.00
R4576:Cntn5	UTSW	9	9673292	missense	probably benign	0.10
R4624:Cntn5	UTSW	9	9704804	nonsense	probably null
R4652:Cntn5	UTSW	9	9704912	missense	possibly damaging	0.68
R4664:Cntn5	UTSW	9	10144209	missense	possibly damaging	0.71
R4679:Cntn5	UTSW	9	9970531	missense	probably benign	0.09
R4829:Cntn5	UTSW	9	9976283	missense	probably damaging	1.00
R4929:Cntn5	UTSW	9	9976395	critical splice acceptor site	probably null
R5211:Cntn5	UTSW	9	9704889	missense	possibly damaging	0.88
R5406:Cntn5	UTSW	9	9833460	missense	probably damaging	1.00
R5468:Cntn5	UTSW	9	9743628	missense	probably damaging	1.00
R5584:Cntn5	UTSW	9	9661452	missense	possibly damaging	0.91
R5688:Cntn5	UTSW	9	9748422	missense	probably damaging	1.00
R5762:Cntn5	UTSW	9	9748389	missense	possibly damaging	0.95
R6141:Cntn5	UTSW	9	10144157	missense	probably benign
R6147:Cntn5	UTSW	9	10012889	missense	probably damaging	0.98
R6325:Cntn5	UTSW	9	10144323	splice site	probably null
R6377:Cntn5	UTSW	9	9743652	missense	probably damaging	1.00
R6774:Cntn5	UTSW	9	10144217	missense	probably damaging	1.00
R7117:Cntn5	UTSW	9	10904699	start gained	probably benign
R7252:Cntn5	UTSW	9	9831635	missense	probably benign	0.00
R7363:Cntn5	UTSW	9	10172016	missense	probably benign	0.00
R7401:Cntn5	UTSW	9	9833461	missense	probably benign	0.13
R7488:Cntn5	UTSW	9	9970565	missense	probably damaging	0.99
R7548:Cntn5	UTSW	9	9673410	splice site	probably null
R7662:Cntn5	UTSW	9	9661385	missense	probably benign	0.17
R7718:Cntn5	UTSW	9	9984128	missense	probably benign
R7719:Cntn5	UTSW	9	9704898	missense	probably damaging	1.00
R7788:Cntn5	UTSW	9	9704929	missense	probably benign	0.01
R7864:Cntn5	UTSW	9	9984177	missense	probably damaging	0.98
R7937:Cntn5	UTSW	9	9748445	missense	probably damaging	1.00
R8117:Cntn5	UTSW	9	9673950	missense	probably benign	0.33
R8159:Cntn5	UTSW	9	10145381	missense	possibly damaging	0.91
R8349:Cntn5	UTSW	9	9666835	critical splice donor site	probably null
R8449:Cntn5	UTSW	9	9666835	critical splice donor site	probably null
R8779:Cntn5	UTSW	9	10171915	missense	probably benign
R8789:Cntn5	UTSW	9	9673287	missense	probably damaging	1.00
R8985:Cntn5	UTSW	9	10171955	missense	possibly damaging	0.91
R9370:Cntn5	UTSW	9	9833515	missense	probably benign	0.19
R9382:Cntn5	UTSW	9	9673812	missense	probably benign
Z1177:Cntn5	UTSW	9	9673962	nonsense	probably null
Z1177:Cntn5	UTSW	9	10090236	missense	probably damaging	1.00

Posted On

2013-06-21