Mutagenetix > Incidental Mutation

Incidental Mutation 'R4771:Cntn1'

367546

Institutional Source

Beutler Lab

Gene Symbol

Cntn1

Ensembl Gene

ENSMUSG00000055022

Gene Name

contactin 1

Synonyms

F3cam, usl, CNTN

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4771 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91949034-92239834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92202972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 751 (F751L)

Ref Sequence

ENSEMBL: ENSMUSP00000133063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000109] [ENSMUST00000068378] [ENSMUST00000169825]

AlphaFold

P12960

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000109
AA Change: F751L

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000109
Gene: ENSMUSG00000055022
AA Change: F751L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	56	121	4.07e-4	SMART
IG	143	232	1.25e-4	SMART
IGc2	254	317	1.24e-17	SMART
IGc2	343	398	4.22e-11	SMART
IGc2	427	491	2.52e-9	SMART
IG	511	603	3.51e-8	SMART
FN3	606	692	6.69e-12	SMART
FN3	709	795	1.17e-2	SMART
FN3	811	892	1.16e-6	SMART
FN3	907	987	2.46e-1	SMART
low complexity region	995	1018	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068378
AA Change: F751L

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067842
Gene: ENSMUSG00000055022
AA Change: F751L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	56	121	4.07e-4	SMART
IG	143	232	1.25e-4	SMART
IGc2	254	317	1.24e-17	SMART
IGc2	343	398	4.22e-11	SMART
IGc2	427	491	2.52e-9	SMART
IG	511	603	3.51e-8	SMART
FN3	606	692	6.69e-12	SMART
FN3	709	795	1.17e-2	SMART
FN3	811	892	1.16e-6	SMART
FN3	907	987	2.46e-1	SMART
low complexity region	995	1018	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169825
AA Change: F751L

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133063
Gene: ENSMUSG00000055022
AA Change: F751L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	56	121	4.07e-4	SMART
IG	143	232	1.25e-4	SMART
IGc2	254	317	1.24e-17	SMART
IGc2	343	398	4.22e-11	SMART
IGc2	427	491	2.52e-9	SMART
IG	511	603	3.51e-8	SMART
FN3	606	692	6.69e-12	SMART
FN3	709	795	1.17e-2	SMART
FN3	811	892	1.16e-6	SMART
FN3	907	987	2.46e-1	SMART
low complexity region	995	1018	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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. It 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. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mutations of this gene result in growth retardation, progressive ataxia and death prior to weaning. A targeted null mutation, but not a spontaneous mutation, causes a small cerebellum with abnormalities of the molecular layer and abnormal Purkinje cellaxon morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,300 (GRCm39)	T148A	probably benign	Het
Abcc4	G	T	14: 118,721,796 (GRCm39)	N1234K	probably benign	Het
Adamts20	C	T	15: 94,249,516 (GRCm39)		probably null	Het
Aqp9	C	T	9: 71,030,152 (GRCm39)	G212S	probably damaging	Het
Asb15	A	T	6: 24,570,621 (GRCm39)	N533I	probably damaging	Het
Brwd1	A	G	16: 95,804,518 (GRCm39)	V1884A	probably benign	Het
Ccdc106	G	A	7: 5,060,521 (GRCm39)		probably null	Het
Cfap46	A	T	7: 139,210,524 (GRCm39)	L1774Q	probably null	Het
Cfap95	A	G	19: 23,536,337 (GRCm39)	L190P	probably damaging	Het
Cibar1	T	A	4: 12,155,689 (GRCm39)	Q311L	probably benign	Het
Clec2h	G	A	6: 128,651,118 (GRCm39)	E133K	probably damaging	Het
Col20a1	A	T	2: 180,630,917 (GRCm39)	M62L	probably benign	Het
Col7a1	T	C	9: 108,800,993 (GRCm39)	V1899A	probably damaging	Het
Cpa5	T	A	6: 30,612,684 (GRCm39)	L28*	probably null	Het
Crb1	T	A	1: 139,255,942 (GRCm39)	E264D	probably damaging	Het
Creb3l2	A	T	6: 37,311,512 (GRCm39)	S426T	probably benign	Het
Cspg5	T	A	9: 110,080,195 (GRCm39)	N373K	probably damaging	Het
Ctso	T	C	3: 81,840,047 (GRCm39)	S26P	probably benign	Het
Depdc1b	A	C	13: 108,519,434 (GRCm39)	D348A	probably benign	Het
Diaph1	A	T	18: 37,986,604 (GRCm39)	M1127K	probably damaging	Het
Dlgap1	A	T	17: 70,900,375 (GRCm39)	K397*	probably null	Het
Dock3	T	A	9: 106,829,557 (GRCm39)	H1119L	possibly damaging	Het
Dok4	G	T	8: 95,591,795 (GRCm39)		probably null	Het
Dram2	A	G	3: 106,480,361 (GRCm39)	T225A	probably damaging	Het
Dst	G	A	1: 34,288,565 (GRCm39)	R5603H	probably damaging	Het
Ehbp1l1	A	G	19: 5,775,996 (GRCm39)	F18S	probably damaging	Het
Epha5	A	G	5: 84,298,278 (GRCm39)	V427A	probably damaging	Het
Exoc4	A	T	6: 33,418,884 (GRCm39)		probably null	Het
Exph5	C	T	9: 53,284,965 (GRCm39)	T682I	possibly damaging	Het
Fnbp1l	A	T	3: 122,351,752 (GRCm39)	S264T	possibly damaging	Het
Ggnbp2	A	T	11: 84,725,314 (GRCm39)	D580E	probably benign	Het
Gm10277	G	A	11: 77,676,534 (GRCm39)		probably benign	Het
Golm2	T	A	2: 121,756,126 (GRCm39)	V352E	probably damaging	Het
Gtf2a1l	C	A	17: 88,997,448 (GRCm39)	P93Q	probably benign	Het
Hydin	A	T	8: 111,259,515 (GRCm39)	I2496F	probably benign	Het
Ighv7-2	A	C	12: 113,876,087 (GRCm39)	I6S	probably benign	Het
Irs1	A	G	1: 82,265,696 (GRCm39)	V840A	probably benign	Het
Itgal	A	G	7: 126,927,405 (GRCm39)	E965G	probably damaging	Het
Izumo1	T	G	7: 45,272,233 (GRCm39)	F5V	probably benign	Het
Izumo1	T	A	7: 45,272,234 (GRCm39)	F5Y	probably damaging	Het
Kif13a	A	G	13: 46,978,687 (GRCm39)	S175P	probably damaging	Het
Klf14	A	G	6: 30,934,960 (GRCm39)	F225L	probably damaging	Het
Kpna1	T	C	16: 35,853,773 (GRCm39)	Y468H	probably damaging	Het
Krt5	T	A	15: 101,617,494 (GRCm39)	Q413L	probably damaging	Het
Lbr	T	C	1: 181,665,986 (GRCm39)	Y41C	probably damaging	Het
Lmcd1	A	T	6: 112,292,834 (GRCm39)	N229Y	probably damaging	Het
Marchf3	T	A	18: 56,916,170 (GRCm39)	H175L	probably benign	Het
Mcmbp	A	G	7: 128,300,124 (GRCm39)		probably null	Het
Med27	T	A	2: 29,303,515 (GRCm39)	L16Q	probably damaging	Het
Mex3b	A	T	7: 82,518,273 (GRCm39)	Q196L	possibly damaging	Het
Mga	T	C	2: 119,794,775 (GRCm39)	S2820P	probably damaging	Het
Mroh2a	C	T	1: 88,179,087 (GRCm39)	L1104F	probably damaging	Het
Mta3	A	G	17: 84,063,103 (GRCm39)	E166G	probably damaging	Het
Mthfd2l	A	G	5: 91,096,727 (GRCm39)	E116G	possibly damaging	Het
Musk	A	G	4: 58,301,706 (GRCm39)	I155V	probably benign	Het
Myh7b	G	A	2: 155,468,314 (GRCm39)	W834*	probably null	Het
Myo18b	T	A	5: 112,840,093 (GRCm39)	R2567*	probably null	Het
Nars2	A	T	7: 96,684,452 (GRCm39)	E325V	probably damaging	Het
Nploc4	A	G	11: 120,312,260 (GRCm39)	V106A	possibly damaging	Het
Nudcd1	A	T	15: 44,268,878 (GRCm39)	S167R	probably damaging	Het
Nup133	T	A	8: 124,656,137 (GRCm39)	D448V	probably damaging	Het
Or5al1	G	T	2: 85,990,417 (GRCm39)	T99N	probably benign	Het
Or5p70	A	T	7: 107,995,229 (GRCm39)	K301*	probably null	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pcdh8	C	T	14: 80,005,710 (GRCm39)	A893T	possibly damaging	Het
Per3	A	T	4: 151,093,716 (GRCm39)	V1033E	probably damaging	Het
Polr1e	T	C	4: 45,019,282 (GRCm39)	S44P	probably damaging	Het
Pou4f2	T	A	8: 79,161,865 (GRCm39)	H246L	possibly damaging	Het
Psmd2	G	A	16: 20,481,429 (GRCm39)	R828Q	probably damaging	Het
Ptprq	A	G	10: 107,524,288 (GRCm39)	S482P	probably benign	Het
Rbm14	G	T	19: 4,852,671 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,254,698 (GRCm39)	D557G	probably damaging	Het
Rhobtb2	A	G	14: 70,034,499 (GRCm39)	I242T	probably benign	Het
Runx1	C	A	16: 92,492,629 (GRCm39)	V5L	possibly damaging	Het
Shld2	G	A	14: 33,990,663 (GRCm39)	T81M	probably damaging	Het
Slc13a1	A	T	6: 24,100,339 (GRCm39)	Y381*	probably null	Het
Smyd3	A	T	1: 178,921,961 (GRCm39)	C180S	probably damaging	Het
Sntg2	T	A	12: 30,326,658 (GRCm39)		probably null	Het
Snx19	G	A	9: 30,344,934 (GRCm39)	V678I	probably damaging	Het
Spag5	G	A	11: 78,195,592 (GRCm39)	A300T	probably damaging	Het
Spdl1	T	A	11: 34,704,154 (GRCm39)	R560W	probably damaging	Het
Spen	T	C	4: 141,199,907 (GRCm39)	T2884A	probably benign	Het
Spg11	G	A	2: 121,895,963 (GRCm39)	Q1752*	probably null	Het
Srrm4	C	A	5: 116,613,234 (GRCm39)		probably null	Het
Ssc4d	A	G	5: 135,999,074 (GRCm39)	L43P	probably damaging	Het
Sspo	A	G	6: 48,437,813 (GRCm39)	D1324G	probably damaging	Het
Tkt	T	G	14: 30,288,982 (GRCm39)	I238S	probably damaging	Het
Tmem184b	A	T	15: 79,261,377 (GRCm39)	N76K	probably benign	Het
Trpm6	A	G	19: 18,790,857 (GRCm39)	M631V	probably damaging	Het
Ttll6	A	C	11: 96,024,655 (GRCm39)	E15A	possibly damaging	Het
Ttn	T	C	2: 76,569,296 (GRCm39)	D27199G	probably damaging	Het
Ubn2	A	T	6: 38,464,088 (GRCm39)		probably null	Het
Ubr5	A	C	15: 38,018,541 (GRCm39)	I866M	possibly damaging	Het
Urb1	T	C	16: 90,550,406 (GRCm39)	T2149A	probably benign	Het
Ush2a	G	T	1: 188,529,966 (GRCm39)	V3252L	possibly damaging	Het
Usp24	A	G	4: 106,219,377 (GRCm39)		probably null	Het
Vill	T	A	9: 118,897,502 (GRCm39)	M259K	probably damaging	Het
Vldlr	T	C	19: 27,217,290 (GRCm39)	I411T	probably damaging	Het
Vmn2r120	A	T	17: 57,831,887 (GRCm39)	W301R	probably damaging	Het
Vps13b	G	A	15: 35,910,946 (GRCm39)	S3570N	probably damaging	Het
Vps13c	T	C	9: 67,836,821 (GRCm39)	V1773A	probably benign	Het
Vtn	A	G	11: 78,392,400 (GRCm39)	D326G	probably benign	Het
Wdr93	A	T	7: 79,426,511 (GRCm39)	H592L	probably damaging	Het
Zdhhc19	A	G	16: 32,317,953 (GRCm39)	D94G	probably damaging	Het
Zfand4	A	T	6: 116,291,311 (GRCm39)	E188V	probably damaging	Het
Zfp523	C	A	17: 28,420,312 (GRCm39)		probably null	Het
Zfp536	T	C	7: 37,268,309 (GRCm39)	D369G	probably damaging	Het
Zfp608	T	A	18: 55,121,372 (GRCm39)	T72S	probably benign	Het
Zfp804a	T	A	2: 82,088,286 (GRCm39)	V705E	probably benign	Het
Zfp974	T	C	7: 27,625,733 (GRCm39)	T46A	probably damaging	Het
Zkscan4	C	T	13: 21,663,416 (GRCm39)	Q52*	probably null	Het

Other mutations in Cntn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Cntn1	APN	15	92,148,758 (GRCm39)	missense	possibly damaging	0.92
IGL01109:Cntn1	APN	15	92,237,458 (GRCm39)	nonsense	probably null
IGL01399:Cntn1	APN	15	92,203,025 (GRCm39)	missense	probably damaging	1.00
IGL01714:Cntn1	APN	15	92,151,870 (GRCm39)	nonsense	probably null
IGL02052:Cntn1	APN	15	92,189,584 (GRCm39)	missense	possibly damaging	0.95
IGL02342:Cntn1	APN	15	92,143,898 (GRCm39)	missense	probably benign	0.01
IGL02507:Cntn1	APN	15	92,148,860 (GRCm39)	missense	possibly damaging	0.92
IGL02511:Cntn1	APN	15	92,114,266 (GRCm39)	start gained	probably benign
IGL02702:Cntn1	APN	15	92,189,482 (GRCm39)	splice site	probably benign
IGL02927:Cntn1	APN	15	92,189,561 (GRCm39)	missense	probably benign	0.12
IGL02948:Cntn1	APN	15	92,143,891 (GRCm39)	missense	probably benign	0.01
R0035:Cntn1	UTSW	15	92,129,969 (GRCm39)	splice site	probably benign
R0084:Cntn1	UTSW	15	92,215,798 (GRCm39)	missense	probably benign	0.01
R0346:Cntn1	UTSW	15	92,129,968 (GRCm39)	splice site	probably benign
R0634:Cntn1	UTSW	15	92,212,444 (GRCm39)	nonsense	probably null
R1348:Cntn1	UTSW	15	92,212,544 (GRCm39)	missense	probably damaging	1.00
R1613:Cntn1	UTSW	15	92,143,871 (GRCm39)	missense	possibly damaging	0.60
R1793:Cntn1	UTSW	15	92,189,552 (GRCm39)	missense	possibly damaging	0.92
R1815:Cntn1	UTSW	15	92,148,829 (GRCm39)	missense	probably benign	0.00
R1851:Cntn1	UTSW	15	92,203,021 (GRCm39)	missense	probably damaging	1.00
R1852:Cntn1	UTSW	15	92,203,021 (GRCm39)	missense	probably damaging	1.00
R2068:Cntn1	UTSW	15	92,215,943 (GRCm39)	missense	possibly damaging	0.82
R2269:Cntn1	UTSW	15	92,192,863 (GRCm39)	splice site	probably benign
R4394:Cntn1	UTSW	15	92,189,645 (GRCm39)	missense	probably damaging	1.00
R4667:Cntn1	UTSW	15	92,192,960 (GRCm39)	missense	probably damaging	1.00
R4944:Cntn1	UTSW	15	92,126,549 (GRCm39)	missense	probably damaging	1.00
R5044:Cntn1	UTSW	15	92,140,876 (GRCm39)	missense	probably damaging	1.00
R5218:Cntn1	UTSW	15	92,237,430 (GRCm39)	missense	unknown
R5314:Cntn1	UTSW	15	92,192,892 (GRCm39)	missense	probably benign	0.01
R5445:Cntn1	UTSW	15	92,192,958 (GRCm39)	missense	probably damaging	1.00
R5518:Cntn1	UTSW	15	92,212,534 (GRCm39)	missense	probably benign	0.00
R6849:Cntn1	UTSW	15	92,203,127 (GRCm39)	missense	probably damaging	0.99
R6885:Cntn1	UTSW	15	92,140,980 (GRCm39)	critical splice donor site	probably null
R7035:Cntn1	UTSW	15	92,212,392 (GRCm39)	missense	probably benign	0.04
R7070:Cntn1	UTSW	15	92,151,917 (GRCm39)	missense	probably damaging	1.00
R7287:Cntn1	UTSW	15	92,143,833 (GRCm39)	splice site	probably null
R7311:Cntn1	UTSW	15	92,130,156 (GRCm39)	critical splice donor site	probably null
R7401:Cntn1	UTSW	15	92,215,870 (GRCm39)	missense	probably benign
R7484:Cntn1	UTSW	15	92,151,922 (GRCm39)	missense	probably benign	0.00
R7492:Cntn1	UTSW	15	92,212,423 (GRCm39)	missense	probably benign
R7617:Cntn1	UTSW	15	92,143,970 (GRCm39)	missense	probably damaging	1.00
R7644:Cntn1	UTSW	15	92,207,890 (GRCm39)	missense	probably benign	0.14
R7878:Cntn1	UTSW	15	92,192,934 (GRCm39)	missense	probably damaging	1.00
R8354:Cntn1	UTSW	15	92,130,130 (GRCm39)	missense	probably benign
R8454:Cntn1	UTSW	15	92,130,130 (GRCm39)	missense	probably benign
R8465:Cntn1	UTSW	15	92,237,404 (GRCm39)	frame shift	probably null
R8757:Cntn1	UTSW	15	92,153,801 (GRCm39)	missense	possibly damaging	0.90
R8759:Cntn1	UTSW	15	92,153,801 (GRCm39)	missense	possibly damaging	0.90
R8767:Cntn1	UTSW	15	92,132,347 (GRCm39)	missense	probably damaging	1.00
R8768:Cntn1	UTSW	15	92,132,347 (GRCm39)	missense	probably damaging	1.00
R8885:Cntn1	UTSW	15	92,159,380 (GRCm39)	missense	probably benign	0.00
R8972:Cntn1	UTSW	15	92,150,278 (GRCm39)	missense	probably benign	0.18
R8993:Cntn1	UTSW	15	92,132,347 (GRCm39)	missense	probably damaging	1.00
R8995:Cntn1	UTSW	15	92,132,347 (GRCm39)	missense	probably damaging	1.00
R8997:Cntn1	UTSW	15	92,132,347 (GRCm39)	missense	probably damaging	1.00
R9151:Cntn1	UTSW	15	92,140,864 (GRCm39)	missense	probably damaging	1.00
R9438:Cntn1	UTSW	15	92,144,024 (GRCm39)	critical splice donor site	probably null
R9493:Cntn1	UTSW	15	92,189,644 (GRCm39)	missense	probably damaging	1.00
Z1177:Cntn1	UTSW	15	92,207,851 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAACAGCATCATCTCCTGG -3'
(R):5'- TGTGCAGAGTTGATGACAGC -3'

Sequencing Primer
(F):5'- GTACTCCGGCATCTTCAACTATATC -3'
(R):5'- TTGATGACAGCTACGAGGC -3'

Posted On

2015-12-29