Mutagenetix > Incidental Mutation

Incidental Mutation 'R1224:Clstn3'

152832

Institutional Source

Beutler Lab

Gene Symbol

Clstn3

Ensembl Gene

ENSMUSG00000008153

Gene Name

calsyntenin 3

Synonyms

Cst-3, CSTN3, alcadein-beta

MMRRC Submission

039293-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1224 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

124407715-124441743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124434878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 346 (S346G)

Ref Sequence

ENSEMBL: ENSMUSP00000108142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008297] [ENSMUST00000112523] [ENSMUST00000150774]

AlphaFold

Q99JH7

Predicted Effect

probably benign
Transcript: ENSMUST00000008297
AA Change: S383G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: S383G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
CA	50	143	2.72e-12	SMART
CA	166	244	4.04e-2	SMART
SCOP:d1a8d_1	333	549	7e-23	SMART
transmembrane domain	846	868	N/A	INTRINSIC
low complexity region	928	945	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112523
AA Change: S346G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: S346G

Domain	Start	End	E-Value	Type
CA	13	106	2.72e-12	SMART
CA	129	207	4.04e-2	SMART
Pfam:Laminin_G_3	304	505	4.1e-8	PFAM
transmembrane domain	809	831	N/A	INTRINSIC
low complexity region	891	908	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150774

SMART Domains

Protein: ENSMUSP00000145422
Gene: ENSMUSG00000008153

Domain	Start	End	E-Value	Type
Blast:CA	13	64	4e-31	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156040

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reductions in excitatory and inhibitory synapse density and deficits in synaptic transmission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,931,408 (GRCm39)	E1248D	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Aldh16a1	T	C	7: 44,791,471 (GRCm39)		probably null	Het
Aldh9a1	T	A	1: 167,180,227 (GRCm39)	I107N	probably damaging	Het
Atp6ap1l	G	A	13: 91,034,675 (GRCm39)	Q236*	probably null	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cd46	A	T	1: 194,744,706 (GRCm39)	I344K	possibly damaging	Het
Ces3a	A	T	8: 105,778,141 (GRCm39)	D204V	probably damaging	Het
Cplane1	T	A	15: 8,207,869 (GRCm39)	C207S	probably benign	Het
Dock1	A	G	7: 134,710,548 (GRCm39)	D1190G	possibly damaging	Het
Gimap8	G	A	6: 48,627,629 (GRCm39)	S201N	probably benign	Het
Gm10153	A	G	7: 141,744,072 (GRCm39)	S19P	unknown	Het
Igfn1	A	G	1: 135,897,494 (GRCm39)	V1024A	probably benign	Het
Kcng3	A	G	17: 83,938,824 (GRCm39)	L75P	probably damaging	Het
Krt31	C	T	11: 99,940,690 (GRCm39)		probably null	Het
Ly6a	A	G	15: 74,868,327 (GRCm39)	V54A	possibly damaging	Het
Map3k7cl	T	A	16: 87,352,891 (GRCm39)	D21E	probably benign	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Rapsn	T	C	2: 90,873,543 (GRCm39)	L230P	probably damaging	Het
Rhog	C	A	7: 101,888,959 (GRCm39)	V165F	possibly damaging	Het
Slc44a4	T	C	17: 35,140,844 (GRCm39)	V313A	probably benign	Het
Sox14	G	C	9: 99,757,168 (GRCm39)	H190Q	probably damaging	Het
Sval2	G	A	6: 41,841,188 (GRCm39)	D103N	probably benign	Het
Tm9sf3	A	T	19: 41,211,634 (GRCm39)	V403D	probably damaging	Het
Tmem269	T	C	4: 119,074,323 (GRCm39)	K18R	probably benign	Het
Unc80	T	C	1: 66,511,139 (GRCm39)	F49S	probably damaging	Het
Zdhhc7	T	A	8: 120,809,311 (GRCm39)	T299S	probably benign	Het
Zfp52	T	C	17: 21,775,324 (GRCm39)	V6A	possibly damaging	Het

Other mutations in Clstn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Clstn3	APN	6	124,439,098 (GRCm39)	missense	probably damaging	1.00
IGL01415:Clstn3	APN	6	124,415,781 (GRCm39)	nonsense	probably null
IGL01521:Clstn3	APN	6	124,434,990 (GRCm39)	nonsense	probably null
IGL01537:Clstn3	APN	6	124,408,559 (GRCm39)	missense	possibly damaging	0.91
IGL01729:Clstn3	APN	6	124,426,753 (GRCm39)	missense	probably benign	0.06
IGL01879:Clstn3	APN	6	124,415,769 (GRCm39)	missense	probably damaging	1.00
IGL01998:Clstn3	APN	6	124,435,622 (GRCm39)	missense	probably damaging	1.00
IGL03130:Clstn3	APN	6	124,436,222 (GRCm39)	missense	probably damaging	0.98
IGL03405:Clstn3	APN	6	124,415,327 (GRCm39)	missense	possibly damaging	0.95
PIT4403001:Clstn3	UTSW	6	124,434,982 (GRCm39)	missense	probably damaging	1.00
R0049:Clstn3	UTSW	6	124,436,812 (GRCm39)	missense	possibly damaging	0.87
R0049:Clstn3	UTSW	6	124,436,812 (GRCm39)	missense	possibly damaging	0.87
R0208:Clstn3	UTSW	6	124,409,128 (GRCm39)	splice site	probably benign
R0276:Clstn3	UTSW	6	124,408,699 (GRCm39)	splice site	probably benign
R0440:Clstn3	UTSW	6	124,428,372 (GRCm39)	missense	probably damaging	1.00
R0612:Clstn3	UTSW	6	124,426,459 (GRCm39)	missense	probably damaging	0.98
R1200:Clstn3	UTSW	6	124,436,129 (GRCm39)	missense	probably damaging	1.00
R1378:Clstn3	UTSW	6	124,415,378 (GRCm39)	missense	probably damaging	1.00
R1491:Clstn3	UTSW	6	124,414,449 (GRCm39)	missense	possibly damaging	0.51
R1495:Clstn3	UTSW	6	124,426,876 (GRCm39)	missense	probably benign	0.00
R1511:Clstn3	UTSW	6	124,439,128 (GRCm39)	missense	probably damaging	1.00
R1655:Clstn3	UTSW	6	124,414,386 (GRCm39)	missense	probably damaging	1.00
R1731:Clstn3	UTSW	6	124,408,591 (GRCm39)	missense	probably benign	0.04
R1734:Clstn3	UTSW	6	124,413,773 (GRCm39)	splice site	probably benign
R1751:Clstn3	UTSW	6	124,408,958 (GRCm39)	missense	probably damaging	1.00
R1954:Clstn3	UTSW	6	124,436,257 (GRCm39)	missense	possibly damaging	0.94
R2133:Clstn3	UTSW	6	124,426,462 (GRCm39)	missense	probably benign
R2192:Clstn3	UTSW	6	124,436,166 (GRCm39)	missense	probably damaging	1.00
R2314:Clstn3	UTSW	6	124,427,676 (GRCm39)	missense	probably benign	0.39
R2874:Clstn3	UTSW	6	124,415,294 (GRCm39)	missense	probably damaging	1.00
R3500:Clstn3	UTSW	6	124,408,670 (GRCm39)	missense	probably benign	0.01
R3761:Clstn3	UTSW	6	124,434,835 (GRCm39)	missense	possibly damaging	0.54
R3878:Clstn3	UTSW	6	124,434,901 (GRCm39)	missense	probably damaging	0.97
R3927:Clstn3	UTSW	6	124,428,327 (GRCm39)	missense	probably damaging	1.00
R3934:Clstn3	UTSW	6	124,434,901 (GRCm39)	missense	probably damaging	0.97
R3935:Clstn3	UTSW	6	124,434,901 (GRCm39)	missense	probably damaging	0.97
R4063:Clstn3	UTSW	6	124,426,792 (GRCm39)	missense	possibly damaging	0.51
R4402:Clstn3	UTSW	6	124,433,939 (GRCm39)	missense	probably damaging	0.96
R4534:Clstn3	UTSW	6	124,436,179 (GRCm39)	missense	probably damaging	1.00
R4785:Clstn3	UTSW	6	124,414,331 (GRCm39)	splice site	probably null
R4834:Clstn3	UTSW	6	124,408,912 (GRCm39)	splice site	probably null
R5921:Clstn3	UTSW	6	124,408,539 (GRCm39)	utr 3 prime	probably benign
R5932:Clstn3	UTSW	6	124,415,291 (GRCm39)	missense	probably benign	0.01
R6025:Clstn3	UTSW	6	124,408,623 (GRCm39)	missense	possibly damaging	0.73
R6101:Clstn3	UTSW	6	124,438,629 (GRCm39)	missense	probably damaging	1.00
R6360:Clstn3	UTSW	6	124,415,388 (GRCm39)	missense	possibly damaging	0.88
R6578:Clstn3	UTSW	6	124,427,663 (GRCm39)	critical splice donor site	probably null
R6813:Clstn3	UTSW	6	124,413,894 (GRCm39)	missense	probably benign	0.00
R7380:Clstn3	UTSW	6	124,433,948 (GRCm39)	missense	probably benign	0.01
R7419:Clstn3	UTSW	6	124,435,088 (GRCm39)	missense	probably benign	0.05
R7625:Clstn3	UTSW	6	124,414,377 (GRCm39)	nonsense	probably null
R7780:Clstn3	UTSW	6	124,439,161 (GRCm39)	missense	probably damaging	0.98
R7936:Clstn3	UTSW	6	124,408,972 (GRCm39)	missense	possibly damaging	0.73
R7939:Clstn3	UTSW	6	124,439,158 (GRCm39)	missense	probably damaging	1.00
R8047:Clstn3	UTSW	6	124,408,972 (GRCm39)	missense	possibly damaging	0.73
R8079:Clstn3	UTSW	6	124,436,763 (GRCm39)	missense	probably damaging	1.00
R8085:Clstn3	UTSW	6	124,435,683 (GRCm39)	missense	probably benign	0.23
R8299:Clstn3	UTSW	6	124,414,332 (GRCm39)	critical splice donor site	probably null
R8406:Clstn3	UTSW	6	124,439,136 (GRCm39)	missense	probably damaging	1.00
R8685:Clstn3	UTSW	6	124,433,867 (GRCm39)	missense	probably damaging	1.00
R9045:Clstn3	UTSW	6	124,408,921 (GRCm39)	missense	probably damaging	0.98
R9209:Clstn3	UTSW	6	124,408,571 (GRCm39)	missense	probably benign	0.02
R9264:Clstn3	UTSW	6	124,436,727 (GRCm39)	missense	probably damaging	1.00
R9268:Clstn3	UTSW	6	124,433,880 (GRCm39)	missense	probably damaging	0.99
R9443:Clstn3	UTSW	6	124,428,358 (GRCm39)	missense	probably damaging	1.00
RF014:Clstn3	UTSW	6	124,436,225 (GRCm39)	nonsense	probably null
X0066:Clstn3	UTSW	6	124,426,770 (GRCm39)	missense	probably benign	0.13
Z1176:Clstn3	UTSW	6	124,436,159 (GRCm39)	missense	probably damaging	1.00
Z1177:Clstn3	UTSW	6	124,426,740 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGGACAAGACCTGCCAACAGTACTTA -3'
(R):5'- TGGAGCCACCCTAAATGTATCACAGAA -3'

Sequencing Primer
(F):5'- ACCTGCCAACAGTACTTATTGGG -3'
(R):5'- CATTTGTAGAAGAGAGAGCACTCTCC -3'

Posted On

2014-01-29