Mutagenetix > Incidental Mutation

Incidental Mutation 'R1264:Clstn2'

151115

Institutional Source

Beutler Lab

Gene Symbol

Clstn2

Ensembl Gene

ENSMUSG00000032452

Gene Name

calsyntenin 2

Synonyms

2900042C18Rik, Cst-2, CS2, CSTN2

MMRRC Submission

039331-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97326448-97915234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97339662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 770 (R770G)

Ref Sequence

ENSEMBL: ENSMUSP00000124081 (fasta)

Gene Model

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

AlphaFold

Q9ER65

Predicted Effect

probably benign
Transcript: ENSMUST00000035027
AA Change: R770G

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452
AA Change: R770G

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
AA Change: R770G

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452
AA Change: R770G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (35/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,592,103 (GRCm39)		probably benign	Het
Acadl	A	T	1: 66,896,712 (GRCm39)	C27S	probably benign	Het
Adgrb3	C	T	1: 25,598,931 (GRCm39)	G258E	probably damaging	Het
Akna	T	C	4: 63,299,962 (GRCm39)		probably null	Het
Angpt2	T	C	8: 18,791,233 (GRCm39)	N21S	probably benign	Het
Ano6	A	G	15: 95,847,447 (GRCm39)	Y585C	probably damaging	Het
Ascc3	A	T	10: 50,518,615 (GRCm39)		probably benign	Het
Clec10a	T	A	11: 70,060,567 (GRCm39)	S103T	possibly damaging	Het
Cndp2	C	A	18: 84,696,916 (GRCm39)	C95F	possibly damaging	Het
Col12a1	A	G	9: 79,527,371 (GRCm39)	V2653A	probably benign	Het
Col4a3	A	T	1: 82,621,022 (GRCm39)		probably benign	Het
Daam1	A	G	12: 72,022,085 (GRCm39)		probably benign	Het
H2-M9	A	G	17: 36,953,484 (GRCm39)	V18A	probably benign	Het
Heatr1	T	A	13: 12,439,491 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,221,675 (GRCm39)	D715G	probably benign	Het
Incenp	T	C	19: 9,861,379 (GRCm39)	K425E	unknown	Het
Kif13b	T	C	14: 65,013,681 (GRCm39)		probably benign	Het
Msh2	T	A	17: 88,014,607 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,071,604 (GRCm39)	N474D	probably damaging	Het
Myo18b	T	C	5: 112,978,185 (GRCm39)	T1246A	probably benign	Het
Nob1	T	C	8: 108,148,136 (GRCm39)	H102R	probably damaging	Het
Or4z4	G	T	19: 12,076,198 (GRCm39)	D268E	probably benign	Het
Pard3b	A	T	1: 62,203,316 (GRCm39)	I415F	probably damaging	Het
Pfkl	T	G	10: 77,829,250 (GRCm39)	K386T	possibly damaging	Het
Plekhs1	T	C	19: 56,474,195 (GRCm39)	V447A	probably benign	Het
Poli	C	T	18: 70,650,574 (GRCm39)	V266I	probably benign	Het
Rapgef4	A	T	2: 71,861,449 (GRCm39)	K46N	possibly damaging	Het
Shisa6	T	C	11: 66,265,975 (GRCm39)		probably benign	Het
Six3	T	A	17: 85,929,285 (GRCm39)	D206E	probably damaging	Het
Slc12a1	A	T	2: 125,060,158 (GRCm39)	E944D	possibly damaging	Het
Sptb	A	G	12: 76,659,381 (GRCm39)	F1173S	probably damaging	Het
Tfdp1	C	A	8: 13,423,837 (GRCm39)		probably benign	Het
Trrap	A	G	5: 144,726,409 (GRCm39)		probably benign	Het
Wbp11	A	G	6: 136,791,513 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTACCTGAACTGCGCTGGATAC -3'
(R):5'- ACCCCTATGGCACAAGTCTGTCTC -3'

Sequencing Primer
(F):5'- GAACTGCGCTGGATACTACTC -3'
(R):5'- ACAAGTCTGTCTCCTGTGTC -3'

Posted On

2014-01-29