Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00563:Clstn2'

277794

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clstn2

Ensembl Gene

ENSMUSG00000032452

Gene Name

calsyntenin 2

Synonyms

2900042C18Rik, Cst-2, CS2, CSTN2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00563

Quality Score

Status

Chromosome

Chromosomal Location

97326448-97915234 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 97464505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035027] [ENSMUST00000162295]

AlphaFold

Q9ER65

Predicted Effect

probably benign
Transcript: ENSMUST00000035027

SMART Domains

Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	67	160	2e-10	SMART
CA	183	261	1.18e-3	SMART
SCOP:d1a8d_1	358	538	5e-21	SMART
Blast:LamG	380	529	3e-41	BLAST
transmembrane domain	835	857	N/A	INTRINSIC
low complexity region	901	935	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162295

SMART Domains

Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	67	160	2e-10	SMART
CA	183	261	1.18e-3	SMART
Pfam:Laminin_G_3	356	533	1.4e-9	PFAM
transmembrane domain	835	857	N/A	INTRINSIC
low complexity region	901	935	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous KO mice display deficiency in spatial learning and memory in Morris water and Barnes maze tasks and increased locomotor activity in open field test. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	C	5: 25,202,619 (GRCm39)		probably benign	Het
Atp13a4	T	C	16: 29,222,596 (GRCm39)		probably benign	Het
AU016765	C	A	17: 64,826,877 (GRCm39)		noncoding transcript	Het
Crip1	T	A	12: 113,117,232 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,172,603 (GRCm39)	N285S	possibly damaging	Het
Fktn	A	T	4: 53,747,007 (GRCm39)		probably null	Het
Fndc3a	C	A	14: 72,796,797 (GRCm39)		probably benign	Het
Focad	T	A	4: 88,267,046 (GRCm39)	M1019K	unknown	Het
Fuca2	A	T	10: 13,381,651 (GRCm39)	D188V	probably damaging	Het
Gzmk	C	T	13: 113,309,658 (GRCm39)	V92I	probably benign	Het
Mprip	C	T	11: 59,643,443 (GRCm39)	R520W	probably damaging	Het
Mrpl19	A	G	6: 81,942,853 (GRCm39)	V19A	probably benign	Het
Ndufb3	T	A	1: 58,634,958 (GRCm39)	H103Q	possibly damaging	Het
Pkd1l3	T	C	8: 110,382,779 (GRCm39)	V1675A	possibly damaging	Het
Saxo1	C	T	4: 86,363,809 (GRCm39)	E225K	probably damaging	Het
Sbno1	A	G	5: 124,540,268 (GRCm39)	S383P	probably damaging	Het
Slc22a29	T	A	19: 8,138,993 (GRCm39)	T490S	probably benign	Het
Smc6	T	A	12: 11,351,532 (GRCm39)	S854T	probably benign	Het
Smim23	T	C	11: 32,771,893 (GRCm39)	T58A	probably benign	Het
Tas2r134	T	C	2: 51,518,100 (GRCm39)	I193T	possibly damaging	Het
Thsd7a	G	T	6: 12,379,658 (GRCm39)		probably null	Het
Trav13n-4	T	G	14: 53,601,423 (GRCm39)	V64G	possibly damaging	Het
Trmt10a	G	A	3: 137,853,177 (GRCm39)	E13K	probably damaging	Het
Txndc11	T	C	16: 10,922,496 (GRCm39)	S239G	probably damaging	Het
Vmn2r96	T	A	17: 18,804,077 (GRCm39)	N442K	probably benign	Het
Vps13a	C	T	19: 16,712,078 (GRCm39)		probably null	Het
Wdr64	A	G	1: 175,526,366 (GRCm39)	D5G	probably benign	Het

Other mutations in Clstn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Clstn2	APN	9	97,464,505 (GRCm39)	splice site	probably benign
IGL00733:Clstn2	APN	9	97,365,102 (GRCm39)	missense	probably damaging	1.00
IGL01303:Clstn2	APN	9	97,365,128 (GRCm39)	nonsense	probably null
IGL01935:Clstn2	APN	9	97,345,521 (GRCm39)	missense	probably damaging	1.00
IGL02157:Clstn2	APN	9	97,423,928 (GRCm39)	missense	probably benign
IGL02974:Clstn2	APN	9	97,414,760 (GRCm39)	missense	probably damaging	1.00
IGL03164:Clstn2	APN	9	97,681,462 (GRCm39)	missense	possibly damaging	0.50
IGL03298:Clstn2	APN	9	97,338,625 (GRCm39)	missense	probably damaging	1.00
R0653:Clstn2	UTSW	9	97,340,257 (GRCm39)	missense	probably damaging	1.00
R0845:Clstn2	UTSW	9	97,452,681 (GRCm39)	missense	probably benign	0.39
R0992:Clstn2	UTSW	9	97,327,765 (GRCm39)	missense	probably benign	0.00
R1105:Clstn2	UTSW	9	97,465,552 (GRCm39)	splice site	probably null
R1112:Clstn2	UTSW	9	97,340,281 (GRCm39)	missense	possibly damaging	0.92
R1264:Clstn2	UTSW	9	97,339,662 (GRCm39)	missense	probably benign	0.28
R1275:Clstn2	UTSW	9	97,339,483 (GRCm39)	missense	probably benign	0.00
R1329:Clstn2	UTSW	9	97,340,227 (GRCm39)	missense	probably damaging	1.00
R1396:Clstn2	UTSW	9	97,343,446 (GRCm39)	missense	probably benign	0.02
R1556:Clstn2	UTSW	9	97,338,558 (GRCm39)	missense	probably benign	0.41
R1703:Clstn2	UTSW	9	97,340,290 (GRCm39)	missense	possibly damaging	0.90
R1837:Clstn2	UTSW	9	97,465,593 (GRCm39)	missense	probably benign	0.00
R2911:Clstn2	UTSW	9	97,414,775 (GRCm39)	missense	probably damaging	1.00
R3434:Clstn2	UTSW	9	97,336,768 (GRCm39)	missense	probably benign	0.17
R3771:Clstn2	UTSW	9	97,464,615 (GRCm39)	missense	probably damaging	1.00
R3772:Clstn2	UTSW	9	97,464,615 (GRCm39)	missense	probably damaging	1.00
R3854:Clstn2	UTSW	9	97,345,648 (GRCm39)	nonsense	probably null
R4049:Clstn2	UTSW	9	97,339,613 (GRCm39)	missense	possibly damaging	0.59
R4334:Clstn2	UTSW	9	97,345,581 (GRCm39)	missense	probably damaging	1.00
R4705:Clstn2	UTSW	9	97,345,612 (GRCm39)	missense	possibly damaging	0.95
R4755:Clstn2	UTSW	9	97,327,726 (GRCm39)	missense	probably benign	0.01
R4884:Clstn2	UTSW	9	97,681,448 (GRCm39)	missense	probably damaging	1.00
R5017:Clstn2	UTSW	9	97,365,139 (GRCm39)	missense	probably damaging	1.00
R5076:Clstn2	UTSW	9	97,365,132 (GRCm39)	missense	probably damaging	1.00
R5122:Clstn2	UTSW	9	97,343,474 (GRCm39)	missense	probably damaging	1.00
R5155:Clstn2	UTSW	9	97,338,484 (GRCm39)	missense	probably benign	0.02
R5560:Clstn2	UTSW	9	97,351,872 (GRCm39)	missense	possibly damaging	0.95
R6009:Clstn2	UTSW	9	97,338,579 (GRCm39)	missense	probably benign	0.05
R6011:Clstn2	UTSW	9	97,338,579 (GRCm39)	missense	probably benign	0.05
R6029:Clstn2	UTSW	9	97,338,634 (GRCm39)	missense	probably benign	0.00
R6093:Clstn2	UTSW	9	97,340,263 (GRCm39)	missense	probably damaging	1.00
R6284:Clstn2	UTSW	9	97,336,727 (GRCm39)	missense	probably benign
R6676:Clstn2	UTSW	9	97,343,584 (GRCm39)	missense	probably damaging	1.00
R6902:Clstn2	UTSW	9	97,351,875 (GRCm39)	missense	probably damaging	1.00
R6946:Clstn2	UTSW	9	97,351,875 (GRCm39)	missense	probably damaging	1.00
R6966:Clstn2	UTSW	9	97,408,459 (GRCm39)	nonsense	probably null
R7329:Clstn2	UTSW	9	97,343,422 (GRCm39)	missense	probably benign	0.00
R7330:Clstn2	UTSW	9	97,343,422 (GRCm39)	missense	probably benign	0.00
R7382:Clstn2	UTSW	9	97,681,451 (GRCm39)	nonsense	probably null
R7410:Clstn2	UTSW	9	97,423,920 (GRCm39)	missense	probably benign	0.06
R7549:Clstn2	UTSW	9	97,464,597 (GRCm39)	missense	probably benign	0.01
R7879:Clstn2	UTSW	9	97,351,817 (GRCm39)	missense	possibly damaging	0.90
R8070:Clstn2	UTSW	9	97,681,523 (GRCm39)	missense	possibly damaging	0.79
R8193:Clstn2	UTSW	9	97,465,683 (GRCm39)	missense	probably damaging	1.00
R8422:Clstn2	UTSW	9	97,340,239 (GRCm39)	missense	probably benign	0.39
R9190:Clstn2	UTSW	9	97,414,815 (GRCm39)	missense	probably damaging	1.00
R9221:Clstn2	UTSW	9	97,343,395 (GRCm39)	missense	probably benign	0.00
R9305:Clstn2	UTSW	9	97,343,537 (GRCm39)	missense	probably damaging	1.00
R9347:Clstn2	UTSW	9	97,464,654 (GRCm39)	missense	probably damaging	1.00
R9520:Clstn2	UTSW	9	97,414,763 (GRCm39)	missense	probably damaging	1.00
R9751:Clstn2	UTSW	9	97,339,703 (GRCm39)	missense	probably damaging	0.98
X0027:Clstn2	UTSW	9	97,408,452 (GRCm39)	missense	probably damaging	1.00
Z1177:Clstn2	UTSW	9	97,343,409 (GRCm39)	missense	probably benign

Posted On

2015-04-16