Mutagenetix > Incidental Mutation

Incidental Mutation 'R7644:Cntn1'

590457

Institutional Source

Beutler Lab

Gene Symbol

Cntn1

Ensembl Gene

ENSMUSG00000055022

Gene Name

contactin 1

Synonyms

F3cam, usl, CNTN

MMRRC Submission

045723-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7644 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91949034-92239834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92207890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 827 (I827T)

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: I827T

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000000109
Gene: ENSMUSG00000055022
AA Change: I827T

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: I827T

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000067842
Gene: ENSMUSG00000055022
AA Change: I827T

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: I827T

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000133063
Gene: ENSMUSG00000055022
AA Change: I827T

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: 99.6%
20x: 98.9%

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	C	T	2: 30,687,966 (GRCm39)	R209Q	possibly damaging	Het
Abl2	A	G	1: 156,443,563 (GRCm39)	D24G	probably benign	Het
Adar	C	T	3: 89,652,826 (GRCm39)	A754V	probably benign	Het
Adcy8	C	T	15: 64,571,218 (GRCm39)	V1172I	possibly damaging	Het
Adgrl2	C	T	3: 148,544,789 (GRCm39)	V769M	probably damaging	Het
Akna	T	A	4: 63,313,634 (GRCm39)	Q163L	possibly damaging	Het
Alox15	C	T	11: 70,236,368 (GRCm39)	A511T	probably null	Het
Ano8	C	T	8: 71,937,474 (GRCm39)	G90D	probably damaging	Het
Aqp5	G	A	15: 99,492,107 (GRCm39)	R235H	probably damaging	Het
B3galt4	A	T	17: 34,169,419 (GRCm39)	V273E	probably damaging	Het
Ccdc125	C	T	13: 100,814,884 (GRCm39)		probably null	Het
Ccdc90b	A	G	7: 92,216,868 (GRCm39)	R47G	possibly damaging	Het
Celsr2	G	T	3: 108,320,806 (GRCm39)	L669I	probably damaging	Het
Clasp1	T	G	1: 118,440,480 (GRCm39)		probably null	Het
Clec4a2	C	T	6: 123,101,974 (GRCm39)	P43L	probably benign	Het
Col9a1	G	T	1: 24,224,243 (GRCm39)	V142F	unknown	Het
Cplane1	T	A	15: 8,252,611 (GRCm39)	D1944E	probably benign	Het
Cts7	G	T	13: 61,504,782 (GRCm39)	Y23*	probably null	Het
Dcdc2a	T	A	13: 25,291,674 (GRCm39)	Y220N	probably damaging	Het
Dennd2b	A	T	7: 109,156,000 (GRCm39)	L250*	probably null	Het
Dmxl1	T	G	18: 50,026,619 (GRCm39)	V1909G	probably benign	Het
Ehd2	G	A	7: 15,691,474 (GRCm39)	P286L	possibly damaging	Het
Elf3	G	T	1: 135,184,244 (GRCm39)	A208E	possibly damaging	Het
Eml5	A	G	12: 98,822,203 (GRCm39)	I775T	probably benign	Het
Ephb1	T	C	9: 101,813,393 (GRCm39)	T791A	probably damaging	Het
Fanci	C	A	7: 79,094,219 (GRCm39)	S1105*	probably null	Het
Fastkd1	T	A	2: 69,527,184 (GRCm39)		probably null	Het
Fat4	A	G	3: 39,064,390 (GRCm39)	E4782G	possibly damaging	Het
Fnta	T	C	8: 26,503,516 (GRCm39)	I90V	probably damaging	Het
Fosl1	C	T	19: 5,500,332 (GRCm39)	R84*	probably null	Het
Gdf2	T	C	14: 33,666,847 (GRCm39)	F190L	probably benign	Het
Gzmn	T	A	14: 56,404,776 (GRCm39)	Q88L	probably damaging	Het
Hat1	T	A	2: 71,240,525 (GRCm39)	L73Q	probably damaging	Het
Hdhd2	G	A	18: 77,031,871 (GRCm39)	G109E	possibly damaging	Het
Il22ra1	A	G	4: 135,460,346 (GRCm39)	N34S	probably damaging	Het
Ino80d	T	C	1: 63,097,930 (GRCm39)	T760A	probably benign	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Kdm6b	T	C	11: 69,291,032 (GRCm39)	N1574S	unknown	Het
Kel	T	C	6: 41,667,742 (GRCm39)	E400G	probably benign	Het
Kif22	G	A	7: 126,632,134 (GRCm39)	T350I	probably damaging	Het
Kif26b	A	G	1: 178,506,839 (GRCm39)	N305S	probably benign	Het
Klk12	A	C	7: 43,419,134 (GRCm39)	Q33P	probably damaging	Het
Klk1b24	G	A	7: 43,841,304 (GRCm39)		probably null	Het
Krtap31-1	T	A	11: 99,799,048 (GRCm39)	C84S	possibly damaging	Het
Ky	T	A	9: 102,414,972 (GRCm39)	S295T	probably benign	Het
Lpin3	T	A	2: 160,738,690 (GRCm39)	M214K	probably benign	Het
Mak	T	A	13: 41,183,586 (GRCm39)	N565Y	probably benign	Het
Mphosph6	T	C	8: 118,528,623 (GRCm39)	T7A	probably benign	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myh11	T	C	16: 14,039,688 (GRCm39)	T814A		Het
Nmbr	T	C	10: 14,636,433 (GRCm39)	L134P	probably damaging	Het
Nup107	C	T	10: 117,606,375 (GRCm39)	V456M	probably damaging	Het
Or56b1b	A	G	7: 108,164,649 (GRCm39)	S118P	possibly damaging	Het
Or8g22	C	A	9: 38,958,638 (GRCm39)	D26Y	probably damaging	Het
Pink1	A	T	4: 138,044,683 (GRCm39)	H351Q	probably damaging	Het
Piwil4	A	T	9: 14,645,711 (GRCm39)		probably null	Het
Pkd1l1	C	A	11: 8,825,758 (GRCm39)	V1498F		Het
Polb	A	G	8: 23,130,443 (GRCm39)	I161T	probably benign	Het
Polg	A	T	7: 79,101,416 (GRCm39)	L1097Q	probably damaging	Het
Prelp	T	C	1: 133,842,356 (GRCm39)	N263S	probably benign	Het
Pten	T	C	19: 32,789,234 (GRCm39)	C211R	probably damaging	Het
Ptprc	G	A	1: 137,995,645 (GRCm39)	A1012V	probably benign	Het
Ptprr	T	A	10: 115,884,133 (GRCm39)	H63Q	probably benign	Het
Rapsn	A	T	2: 90,872,299 (GRCm39)	H211L	possibly damaging	Het
Reln	T	C	5: 22,183,929 (GRCm39)	N1690S	probably benign	Het
Rpap2	A	G	5: 107,768,167 (GRCm39)	E335G	probably benign	Het
Rspry1	T	A	8: 95,385,396 (GRCm39)	S567T	probably benign	Het
Sf3b1	G	A	1: 55,036,302 (GRCm39)	R924*	probably null	Het
Sftpb	G	A	6: 72,286,818 (GRCm39)	E241K	probably benign	Het
Smarca4	G	T	9: 21,566,950 (GRCm39)	A677S	probably benign	Het
Srrm2	G	A	17: 24,038,294 (GRCm39)	R1646Q	unknown	Het
Tex15	T	A	8: 34,064,445 (GRCm39)	C1292S	probably benign	Het
Tmem140	A	G	6: 34,849,708 (GRCm39)	I75V	probably benign	Het
Trhr2	T	A	8: 123,084,061 (GRCm39)	Q313L	possibly damaging	Het
Trim35	A	G	14: 66,534,546 (GRCm39)	T10A	unknown	Het
Ttn	T	C	2: 76,750,124 (GRCm39)	I3642V	probably benign	Het
Ugt1a2	T	C	1: 88,128,507 (GRCm39)	L50P	probably damaging	Het
Unc13a	C	A	8: 72,087,182 (GRCm39)	V1522L	probably benign	Het
Usp33	A	G	3: 152,063,589 (GRCm39)	D21G	possibly damaging	Het
Vmn1r90	G	A	7: 14,295,616 (GRCm39)	Q161*	probably null	Het
Vmn2r117	A	T	17: 23,696,265 (GRCm39)	W381R	probably damaging	Het
Vmn2r16	G	C	5: 109,487,837 (GRCm39)	A237P	probably damaging	Het
Vmn2r74	A	G	7: 85,606,746 (GRCm39)	V200A	probably benign	Het
Yjefn3	C	T	8: 70,340,544 (GRCm39)	V227M	probably damaging	Het
Zfp652	T	C	11: 95,640,914 (GRCm39)	F280L	probably damaging	Het
Zfp748	G	A	13: 67,689,568 (GRCm39)	T564I	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
R7492:Cntn1	UTSW	15	92,212,423 (GRCm39)	missense	probably benign
R7617:Cntn1	UTSW	15	92,143,970 (GRCm39)	missense	probably damaging	1.00
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'- GTGACCACATTTAAGAACAACAGAG -3'
(R):5'- GTTTAATTCCAAATCAGCCACTAGG -3'

Sequencing Primer
(F):5'- CACATTTAAGAACAACAGAGACAAAG -3'
(R):5'- TAGGACACCAGATATCAACAGATTAG -3'

Posted On

2019-10-24