Mutagenetix > Incidental Mutation

Incidental Mutation 'R1329:Clstn2'

156120

Institutional Source

Beutler Lab

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 #

R1329 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

97326448-97915234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97340227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 715 (E715G)

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: E715G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452
AA Change: E715G

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: E715G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452
AA Change: E715G

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

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.5%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	T	4: 152,314,241 (GRCm39)	Q188*	probably null	Het
Ano5	T	C	7: 51,196,533 (GRCm39)	Y141H	probably benign	Het
Atg101	G	A	15: 101,188,171 (GRCm39)	G92D	probably null	Het
Brwd1	A	G	16: 95,804,434 (GRCm39)	I1912T	probably benign	Het
Cad	G	T	5: 31,216,926 (GRCm39)	G263W	probably damaging	Het
Cracd	A	G	5: 76,805,779 (GRCm39)		probably benign	Het
Dbp	C	T	7: 45,357,752 (GRCm39)	P70S	probably damaging	Het
Fem1al	T	A	11: 29,773,553 (GRCm39)	N635Y	probably benign	Het
Gpr61	T	A	3: 108,057,830 (GRCm39)	H277L	probably benign	Het
Gsdma3	G	T	11: 98,523,218 (GRCm39)	V203F	probably damaging	Het
Ifih1	G	C	2: 62,447,831 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,246,020 (GRCm39)	C404S	possibly damaging	Het
Myrfl	A	G	10: 116,613,247 (GRCm39)		probably null	Het
Nfat5	T	G	8: 108,095,659 (GRCm39)	M1300R	probably benign	Het
Nfrkb	C	T	9: 31,325,943 (GRCm39)	P1129S	possibly damaging	Het
Nubp2	A	T	17: 25,102,838 (GRCm39)	N208K	possibly damaging	Het
Or8g20	A	G	9: 39,395,740 (GRCm39)	S270P	probably damaging	Het
Ovch2	T	C	7: 107,384,653 (GRCm39)	D488G	probably damaging	Het
Rfx6	A	T	10: 51,569,833 (GRCm39)	Y202F	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Usp4	T	A	9: 108,249,765 (GRCm39)	V431E	probably damaging	Het
Vil1	A	G	1: 74,466,717 (GRCm39)	I636V	probably benign	Het
Vmn2r116	A	G	17: 23,606,162 (GRCm39)	N358S	possibly damaging	Het
Wdr47	T	A	3: 108,534,615 (GRCm39)	N511K	probably benign	Het
Wdr5	T	A	2: 27,421,683 (GRCm39)	F222I	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGCTTTTGCCATACTCAGTAGCCC -3'
(R):5'- ATGTCCCCGTAGATGAGGAAACCG -3'

Sequencing Primer
(F):5'- CCTTGGACAAAGCTGTTCAGAG -3'
(R):5'- TGGATGATGGCTTACACACC -3'

Posted On

2014-02-11