Mutagenetix > Incidental Mutation

Incidental Mutation 'R3054:Cntn5'

265079

Institutional Source

Beutler Lab

Gene Symbol

Cntn5

Ensembl Gene

ENSMUSG00000039488

Gene Name

contactin 5

Synonyms

A830025P08Rik, 6720426O10Rik, NB-2, LOC244683

MMRRC Submission

040563-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9660896-10904780 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10419076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 7 (L7P)

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
AA Change: L7P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488
AA Change: L7P

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
AA Change: L7P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488
AA Change: L7P

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
AA Change: L7P

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124214
Gene: ENSMUSG00000039488
AA Change: L7P

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
AA Change: L7P

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135903
Gene: ENSMUSG00000039488
AA Change: L7P

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

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	T	6: 52,156,108 (GRCm39)		probably benign	Het
Aldh1l2	T	C	10: 83,338,336 (GRCm39)	K528E	probably benign	Het
Als2	A	G	1: 59,254,653 (GRCm39)	C235R	probably damaging	Het
Armc6	C	A	8: 70,677,799 (GRCm39)	V177L	probably benign	Het
Asb7	A	T	7: 66,328,959 (GRCm39)	V27D	probably damaging	Het
Bard1	A	G	1: 71,127,390 (GRCm39)	V73A	possibly damaging	Het
Ccdc150	A	G	1: 54,328,001 (GRCm39)	N361S	possibly damaging	Het
Cst3	A	G	2: 148,713,951 (GRCm39)	S118P	probably damaging	Het
Cyp2a22	T	C	7: 26,638,254 (GRCm39)	D84G	probably damaging	Het
Ddo	A	G	10: 40,507,738 (GRCm39)	N45S	probably benign	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Fat3	C	T	9: 15,871,792 (GRCm39)	R3533H	probably benign	Het
Fras1	A	T	5: 96,912,802 (GRCm39)	I3369F	probably damaging	Het
Gm5591	T	C	7: 38,220,058 (GRCm39)	S272G	probably benign	Het
Gm8444	A	T	15: 81,727,845 (GRCm39)		probably benign	Het
Gm9776	A	G	13: 94,495,158 (GRCm39)		probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Larp1b	A	T	3: 40,918,535 (GRCm39)	I59F	probably benign	Het
Ltn1	C	T	16: 87,200,961 (GRCm39)	A1092T	probably benign	Het
Map1b	A	G	13: 99,569,250 (GRCm39)	V1157A	unknown	Het
Mboat1	A	T	13: 30,379,724 (GRCm39)	M92L	probably benign	Het
Meis3	G	T	7: 15,916,378 (GRCm39)	L284F	probably damaging	Het
Muc20	T	C	16: 32,599,403 (GRCm39)	F3317L	probably benign	Het
Muc5b	G	T	7: 141,417,778 (GRCm39)	V3575F	probably damaging	Het
Polr1e	C	T	4: 45,018,724 (GRCm39)	T18I	possibly damaging	Het
Ppp4r1	G	T	17: 66,143,074 (GRCm39)	A764S	probably damaging	Het
Psg29	A	G	7: 16,942,727 (GRCm39)	T243A	probably benign	Het
Ptprn2	T	C	12: 116,685,753 (GRCm39)	Y71H	probably damaging	Het
Radx	T	A	X: 138,412,306 (GRCm39)	V439E	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sh3bp1	C	T	15: 78,795,622 (GRCm39)	P584S	probably benign	Het
Slc4a4	T	C	5: 89,373,807 (GRCm39)	V971A	probably damaging	Het
Stil	T	A	4: 114,862,163 (GRCm39)	H35Q	probably damaging	Het
Strn	A	T	17: 78,990,321 (GRCm39)	V65D	probably damaging	Het
Sumf1	T	C	6: 108,130,165 (GRCm39)	N185D	probably benign	Het
Timm29	T	C	9: 21,504,887 (GRCm39)	M185T	probably damaging	Het
Tjp3	T	C	10: 81,116,341 (GRCm39)	K251R	probably benign	Het
Tubgcp6	A	T	15: 89,006,806 (GRCm39)	M72K	probably damaging	Het
Utp14b	T	A	1: 78,642,442 (GRCm39)	D113E	possibly damaging	Het
Vps13b	A	G	15: 35,646,507 (GRCm39)	E1537G	probably damaging	Het
Zfr	A	G	15: 12,154,593 (GRCm39)	N592S	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- CAAAAGCTTCTGAAGGCTAATAATG -3'
(R):5'- TGCACTTAAAGTTCTGGGTAATG -3'

Sequencing Primer
(F):5'- CAGTGTTGGCAAGGTTGTTTAGTTC -3'
(R):5'- TGATATGAGATTTTGCAGGGAAGC -3'

Posted On

2015-02-05