Mutagenetix > Incidental Mutation

Incidental Mutation 'R4164:Cntn5'

321660

Institutional Source

Beutler Lab

Gene Symbol

Cntn5

Ensembl Gene

ENSMUSG00000039488

Gene Name

contactin 5

Synonyms

A830025P08Rik, 6720426O10Rik, NB-2, LOC244683

MMRRC Submission

041638-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4164 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9660896-10904780 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9781681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 666 (V666A)

Ref Sequence

ENSEMBL: ENSMUSP00000124327 (fasta)

Gene Model

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

AlphaFold

P68500

Predicted Effect

probably damaging
Transcript: ENSMUST00000074133
AA Change: V666A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488
AA Change: V666A

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 damaging
Transcript: ENSMUST00000160216
AA Change: V666A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488
AA Change: V666A

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 damaging
Transcript: ENSMUST00000162484
AA Change: V461A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124214
Gene: ENSMUSG00000039488
AA Change: V461A

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 damaging
Transcript: ENSMUST00000179049
AA Change: V461A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135903
Gene: ENSMUSG00000039488
AA Change: V461A

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

Meta Mutation Damage Score

0.4868

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

89% (40/45)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	C	T	11: 69,780,863 (GRCm39)	A164T	probably benign	Het
Ash1l	A	G	3: 88,889,273 (GRCm39)	D384G	probably damaging	Het
Defb41	C	T	1: 18,330,821 (GRCm39)	C42Y	probably damaging	Het
Dennd4c	C	A	4: 86,725,764 (GRCm39)	N739K	probably benign	Het
Dnah6	C	T	6: 73,066,575 (GRCm39)	W2598*	probably null	Het
Ell	G	T	8: 71,034,223 (GRCm39)	R30L	probably damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Fer1l6	A	C	15: 58,431,087 (GRCm39)	R247S	possibly damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm2223	C	T	X: 32,943,247 (GRCm39)		noncoding transcript	Het
Ifi203	A	T	1: 173,756,029 (GRCm39)		probably benign	Het
Ighm	T	A	12: 113,385,915 (GRCm39)	E108V	unknown	Het
Il23r	T	A	6: 67,400,647 (GRCm39)	Q561L	probably benign	Het
Kank1	A	G	19: 25,388,436 (GRCm39)	D703G	probably benign	Het
Kcnt2	A	T	1: 140,537,368 (GRCm39)	Y1109F	probably damaging	Het
Lamb2	T	A	9: 108,367,497 (GRCm39)	Y1760N	probably damaging	Het
Lrpprc	T	C	17: 85,038,617 (GRCm39)	E950G	possibly damaging	Het
Lrrc66	T	A	5: 73,787,119 (GRCm39)		probably null	Het
Mtbp	T	C	15: 55,472,917 (GRCm39)	V627A	probably benign	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Nipbl	T	C	15: 8,368,418 (GRCm39)	N1142S	probably benign	Het
Nrxn2	G	A	19: 6,582,173 (GRCm39)	V660I	probably damaging	Het
Oas1c	T	C	5: 120,946,204 (GRCm39)	E98G	probably damaging	Het
Or8a1b	T	G	9: 37,622,994 (GRCm39)	I194L	probably benign	Het
Otx1	A	G	11: 21,946,638 (GRCm39)		probably benign	Het
Prkcd	A	G	14: 30,323,154 (GRCm39)	F461L	probably damaging	Het
Prune2	T	C	19: 16,981,098 (GRCm39)	F85S	possibly damaging	Het
Rnf214	G	A	9: 45,783,210 (GRCm39)	R184W	probably damaging	Het
Scn5a	T	C	9: 119,324,844 (GRCm39)	N1328S	probably damaging	Het
Secisbp2l	T	C	2: 125,593,803 (GRCm39)		probably benign	Het
Smarcal1	A	G	1: 72,665,848 (GRCm39)		probably benign	Het
Snx21	T	C	2: 164,628,770 (GRCm39)	Y138H	probably damaging	Het
Sox5	T	A	6: 144,062,206 (GRCm39)	R149W	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Tlr1	A	G	5: 65,084,545 (GRCm39)	C11R	possibly damaging	Het
Vmn2r23	A	T	6: 123,706,697 (GRCm39)	H509L	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCTGCTTCTAAAGAGGTTTG -3'
(R):5'- AAACAGGCCCTTTGAATATGCG -3'

Sequencing Primer
(F):5'- GCTATATCATCATCTCAAAGGCAAG -3'
(R):5'- CAGGCCCTTTGAATATGCGAAGTTC -3'

Posted On

2015-06-12