Mutagenetix > Incidental Mutation

Incidental Mutation 'R7492:Cntn1'

580873

Institutional Source

Beutler Lab

Gene Symbol

Cntn1

Ensembl Gene

ENSMUSG00000055022

Gene Name

contactin 1

Synonyms

F3cam, usl, CNTN

MMRRC Submission

045566-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91949034-92239834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 92212423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 862 (T862P)

Ref Sequence

ENSEMBL: ENSMUSP00000000109 (fasta)

Gene Model

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

AlphaFold

P12960

Predicted Effect

probably benign
Transcript: ENSMUST00000000109
AA Change: T862P

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

SMART Domains

Protein: ENSMUSP00000000109
Gene: ENSMUSG00000055022
AA Change: T862P

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

probably benign
Transcript: ENSMUST00000068378
AA Change: T862P

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

SMART Domains

Protein: ENSMUSP00000067842
Gene: ENSMUSG00000055022
AA Change: T862P

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

probably benign
Transcript: ENSMUST00000169825
AA Change: T862P

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

SMART Domains

Protein: ENSMUSP00000133063
Gene: ENSMUSG00000055022
AA Change: T862P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,948,560 (GRCm39)	D819G	possibly damaging	Het
Abca13	A	T	11: 9,243,167 (GRCm39)	I1677L	probably benign	Het
Ablim2	A	G	5: 35,998,673 (GRCm39)	S367G	probably benign	Het
Afdn	G	C	17: 14,068,638 (GRCm39)		probably null	Het
Aldh6a1	A	G	12: 84,483,640 (GRCm39)	L302P	probably damaging	Het
Ank3	A	G	10: 69,718,357 (GRCm39)	D536G	unknown	Het
Ankrd17	A	G	5: 90,381,807 (GRCm39)	V2454A	possibly damaging	Het
Apol7e	G	A	15: 77,601,656 (GRCm39)	E85K	possibly damaging	Het
Atmin	A	G	8: 117,683,657 (GRCm39)	D439G	probably damaging	Het
AU040320	G	T	4: 126,741,648 (GRCm39)	C952F	possibly damaging	Het
Btbd8	G	A	5: 107,658,373 (GRCm39)	E1648K	probably benign	Het
C6	A	G	15: 4,761,196 (GRCm39)	S19G	probably benign	Het
Ccdc180	A	T	4: 45,930,009 (GRCm39)		probably null	Het
Col5a1	T	C	2: 27,859,812 (GRCm39)		probably null	Het
D430041D05Rik	T	C	2: 104,031,650 (GRCm39)	K964E	probably damaging	Het
Dnajc18	T	C	18: 35,819,846 (GRCm39)	Y145C	probably damaging	Het
Dsc1	C	T	18: 20,240,737 (GRCm39)	C196Y	possibly damaging	Het
Efcab11	A	C	12: 99,844,660 (GRCm39)	I58R	possibly damaging	Het
Fam81b	T	A	13: 76,419,398 (GRCm39)	I51F	probably benign	Het
Fbln1	G	A	15: 85,111,262 (GRCm39)	V139M	probably damaging	Het
Fbxw25	A	G	9: 109,493,598 (GRCm39)		probably null	Het
Fech	C	T	18: 64,600,842 (GRCm39)	W220*	probably null	Het
Fgl1	C	T	8: 41,644,624 (GRCm39)	W293*	probably null	Het
Firrm	A	G	1: 163,786,897 (GRCm39)	I724T	probably benign	Het
Foxi2	T	C	7: 135,012,301 (GRCm39)	L63P	probably damaging	Het
Frmpd1	A	G	4: 45,285,237 (GRCm39)	R1353G	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Galnt5	T	A	2: 57,916,048 (GRCm39)		probably null	Het
Glb1	A	T	9: 114,303,017 (GRCm39)	I618F	probably damaging	Het
Hs2st1	A	T	3: 144,141,357 (GRCm39)	M237K	probably benign	Het
Ighm	T	C	12: 113,386,293 (GRCm39)	D19G		Het
Il1f10	A	G	2: 24,182,829 (GRCm39)	D35G	probably benign	Het
Itpr2	G	A	6: 146,292,436 (GRCm39)	T419I	probably damaging	Het
Khdc1a	A	T	1: 21,420,542 (GRCm39)	E54V	possibly damaging	Het
Kif19a	A	G	11: 114,681,065 (GRCm39)	D991G	probably benign	Het
Klhl18	A	C	9: 110,257,843 (GRCm39)	Y532*	probably null	Het
Lama1	T	C	17: 68,124,646 (GRCm39)	F2902S		Het
Lrba	T	C	3: 86,571,835 (GRCm39)	S2380P	probably damaging	Het
Lrp2	T	A	2: 69,367,925 (GRCm39)	I196F	probably damaging	Het
Macf1	T	C	4: 123,369,524 (GRCm39)	K1746E	possibly damaging	Het
Megf10	T	C	18: 57,424,866 (GRCm39)	Y1002H	probably benign	Het
Megf8	A	G	7: 25,053,273 (GRCm39)	T1815A	probably benign	Het
Mtg1	T	C	7: 139,724,610 (GRCm39)	L162P	probably damaging	Het
Myo6	T	A	9: 80,195,328 (GRCm39)	Y899*	probably null	Het
Nlrp9a	A	T	7: 26,257,081 (GRCm39)	D233V	probably damaging	Het
Or10al6	A	T	17: 38,082,571 (GRCm39)	Q9L	possibly damaging	Het
Or2z2	T	A	11: 58,346,715 (GRCm39)	N20I	probably benign	Het
Or4k45	C	A	2: 111,395,166 (GRCm39)	V208L	probably benign	Het
Or6c201	T	A	10: 128,969,509 (GRCm39)	I43F	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,063 (GRCm39)	N284I	unknown	Het
Parvb	A	T	15: 84,174,651 (GRCm39)	Q148L	probably damaging	Het
Pcdhb11	C	T	18: 37,556,497 (GRCm39)	T609M	probably damaging	Het
Pcdhga3	A	T	18: 37,809,178 (GRCm39)	T544S	probably benign	Het
Pkd1	C	G	17: 24,788,715 (GRCm39)	I824M	probably benign	Het
Pkd1l2	A	T	8: 117,794,849 (GRCm39)	L370Q	probably damaging	Het
Plcb1	G	T	2: 135,093,684 (GRCm39)	E166*	probably null	Het
Pnpt1	A	G	11: 29,085,522 (GRCm39)	I138V	probably benign	Het
Pou4f3	T	C	18: 42,528,996 (GRCm39)	L313P	probably damaging	Het
Pramel21	C	A	4: 143,342,744 (GRCm39)	Q284K	not run	Het
Prep	A	G	10: 44,996,910 (GRCm39)	Y396C	probably damaging	Het
Prkd3	A	T	17: 79,269,974 (GRCm39)	C562*	probably null	Het
Prss12	T	A	3: 123,276,425 (GRCm39)	C351*	probably null	Het
Rnf41	C	A	10: 128,274,283 (GRCm39)	H312N	probably damaging	Het
Ror1	C	T	4: 100,298,256 (GRCm39)	T543I	probably benign	Het
Rreb1	G	A	13: 38,115,724 (GRCm39)	V1028I	probably benign	Het
Setd2	T	A	9: 110,423,700 (GRCm39)	S474T		Het
Slc1a2	T	A	2: 102,570,275 (GRCm39)	C184*	probably null	Het
Slc2a4	G	A	11: 69,837,202 (GRCm39)	T78I	probably benign	Het
Slc4a4	T	A	5: 89,277,509 (GRCm39)	I317N	possibly damaging	Het
Smad9	G	A	3: 54,693,747 (GRCm39)		probably null	Het
Sst	T	C	16: 23,708,576 (GRCm39)	E85G	probably damaging	Het
Sting1	T	C	18: 35,871,766 (GRCm39)	Y162C	probably damaging	Het
Svep1	T	G	4: 58,066,468 (GRCm39)	E3205D	possibly damaging	Het
Tmc7	G	T	7: 118,141,189 (GRCm39)	S647R	probably benign	Het
Trnt1	T	C	6: 106,751,493 (GRCm39)	S157P	possibly damaging	Het
Ttc6	A	T	12: 57,719,922 (GRCm39)	H831L	probably benign	Het
Vmn1r121	A	G	7: 20,832,095 (GRCm39)	F115S	probably damaging	Het
Vwa7	A	G	17: 35,238,020 (GRCm39)	D207G	possibly damaging	Het
Vwde	C	A	6: 13,204,980 (GRCm39)	K300N	probably null	Het
Zfp418	A	G	7: 7,184,396 (GRCm39)	T120A	possibly damaging	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	probably damaging	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
R4771:Cntn1	UTSW	15	92,202,972 (GRCm39)	missense	possibly damaging	0.82
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
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'- TCGCTATCCAGAGGGTGAAG -3'
(R):5'- TCCATATGTGCCTACCGTGAG -3'

Sequencing Primer
(F):5'- GTGAAGGTGTAAATTAAGTTGCACTG -3'
(R):5'- CTTAAATCAAGGGGTAGCTTTGG -3'

Posted On

2019-10-17