Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01118:Cntn5'

51953

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 #

IGL01118

Quality Score

Status

Chromosome

Chromosomal Location

9660896-10904780 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9831565 bp (GRCm39)

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: 124,195,058 (GRCm39)	R539Q	probably benign	Het
Abcb1a	G	A	5: 8,724,687 (GRCm39)	R40H	probably damaging	Het
Acan	T	A	7: 78,748,401 (GRCm39)	S1057R	possibly damaging	Het
Ahnak	A	T	19: 8,989,942 (GRCm39)	D3742V	probably damaging	Het
Amdhd1	A	T	10: 93,367,430 (GRCm39)	D241E	probably benign	Het
Dnmt3l	T	C	10: 77,893,120 (GRCm39)	F299S	probably damaging	Het
Eif1ad19	T	A	12: 87,740,212 (GRCm39)	N116Y	probably damaging	Het
Ess2	A	T	16: 17,720,796 (GRCm39)	I350N	probably damaging	Het
G6pd2	A	T	5: 61,967,406 (GRCm39)	M394L	probably benign	Het
Gm9839	A	T	1: 32,558,924 (GRCm39)	M386K	probably benign	Het
Gtf2h3	T	C	5: 124,733,731 (GRCm39)	V268A	probably damaging	Het
Hgs	T	C	11: 120,366,040 (GRCm39)	V195A	probably damaging	Het
Igkv3-2	A	T	6: 70,675,978 (GRCm39)	S96C	probably damaging	Het
Mgl2	A	G	11: 70,025,015 (GRCm39)	E12G	probably benign	Het
Mup11	A	T	4: 60,615,779 (GRCm39)	F153I	probably damaging	Het
Nf1	T	A	11: 79,437,812 (GRCm39)	C2057S	probably damaging	Het
Nkrf	A	G	X: 36,152,410 (GRCm39)	F624S	probably damaging	Het
Noto	T	C	6: 85,401,192 (GRCm39)	S74P	probably benign	Het
Or8k40	A	G	2: 86,584,314 (GRCm39)	I256T	probably benign	Het
Pax8	T	C	2: 24,332,944 (GRCm39)		probably benign	Het
Psg28	A	T	7: 18,162,017 (GRCm39)	V162D	probably damaging	Het
Rai1	T	C	11: 60,078,264 (GRCm39)	F776S	probably damaging	Het
Taar8a	A	T	10: 23,952,759 (GRCm39)	H121L	probably damaging	Het
Tas2r113	A	G	6: 132,870,278 (GRCm39)	N102S	probably benign	Het
Trpm1	A	G	7: 63,885,572 (GRCm39)	T863A	probably benign	Het
Ttf2	A	G	3: 100,874,413 (GRCm39)		probably benign	Het
Wdr62	T	C	7: 29,942,206 (GRCm39)	H611R	probably damaging	Het
Wdr90	A	T	17: 26,073,661 (GRCm39)	L762Q	probably damaging	Het
Yeats2	T	G	16: 20,005,054 (GRCm39)	S364A	probably damaging	Het
Zdhhc15	G	T	X: 103,641,712 (GRCm39)	Q82K	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
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
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

2013-06-21