Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03298:Clstn2'

416160

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 #

IGL03298

Quality Score

Status

Chromosome

Chromosomal Location

97326448-97915234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97338625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 845 (V845M)

Ref Sequence

ENSEMBL: ENSMUSP00000124081 (fasta)

Gene Model

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

AlphaFold

Q9ER65

Predicted Effect

probably damaging
Transcript: ENSMUST00000035027
AA Change: V845M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452
AA Change: V845M

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 damaging
Transcript: ENSMUST00000162295
AA Change: V845M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452
AA Change: V845M

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,923 (GRCm39)	T1344A	probably benign	Het
Abcc4	C	A	14: 118,848,880 (GRCm39)	D491Y	probably damaging	Het
Casp2	C	T	6: 42,245,924 (GRCm39)		probably benign	Het
Ccnb2	T	C	9: 70,326,156 (GRCm39)	T63A	probably benign	Het
Cgrrf1	A	G	14: 47,083,778 (GRCm39)	I187V	probably benign	Het
Dmxl1	T	C	18: 49,997,885 (GRCm39)	M691T	probably benign	Het
Dnhd1	T	G	7: 105,363,682 (GRCm39)	I4081M	probably damaging	Het
H2-T3	T	C	17: 36,500,320 (GRCm39)	Y125C	probably damaging	Het
Kif1a	T	A	1: 92,993,903 (GRCm39)	D349V	probably damaging	Het
L3mbtl3	T	C	10: 26,158,696 (GRCm39)	T651A	unknown	Het
Megf10	C	T	18: 57,416,910 (GRCm39)	Q760*	probably null	Het
Mroh7	T	A	4: 106,571,288 (GRCm39)	K22*	probably null	Het
Or4f53	A	T	2: 111,087,879 (GRCm39)	M140L	probably benign	Het
Or7g29	A	T	9: 19,286,358 (GRCm39)	V273E	probably damaging	Het
Ppp6r3	A	T	19: 3,571,829 (GRCm39)	Y107N	probably damaging	Het
Reln	T	A	5: 22,115,834 (GRCm39)	Q3058L	probably damaging	Het
Ss18	T	C	18: 14,812,484 (GRCm39)	M36V	possibly damaging	Het
Tlr7	C	A	X: 166,089,703 (GRCm39)	K594N	probably benign	Het
Trim10	A	G	17: 37,187,917 (GRCm39)	S378G	possibly damaging	Het
Zfp644	A	G	5: 106,782,967 (GRCm39)	S1105P	possibly damaging	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
IGL00563: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
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

2016-08-02