Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01879:Clstn3'

179000

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clstn3

Ensembl Gene

ENSMUSG00000008153

Gene Name

calsyntenin 3

Synonyms

Cst-3, CSTN3, alcadein-beta

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01879

Quality Score

Status

Chromosome

Chromosomal Location

124407715-124441743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124415769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 638 (S638P)

Ref Sequence

ENSEMBL: ENSMUSP00000108142 (fasta)

Gene Model

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

AlphaFold

Q99JH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000008297
AA Change: S675P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: S675P

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 damaging
Transcript: ENSMUST00000112523
AA Change: S638P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: S638P

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

noncoding transcript
Transcript: ENSMUST00000143283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147947

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cgn	G	A	3: 94,681,674 (GRCm39)	R474*	probably null	Het
Chmp4b	T	C	2: 154,534,601 (GRCm39)		probably benign	Het
Chst15	A	G	7: 131,871,994 (GRCm39)	Y96H	possibly damaging	Het
Colq	C	T	14: 31,265,952 (GRCm39)	G187E	probably damaging	Het
Cyp2b23	A	G	7: 26,372,279 (GRCm39)	Y389H	probably benign	Het
Cyp3a13	T	C	5: 137,917,265 (GRCm39)	Q54R	probably benign	Het
Dscc1	T	C	15: 54,950,212 (GRCm39)	I178V	probably benign	Het
Fbxo4	G	A	15: 4,005,436 (GRCm39)	T148M	probably damaging	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gpr162	A	G	6: 124,838,204 (GRCm39)	S149P	probably damaging	Het
Grid1	T	A	14: 35,172,327 (GRCm39)	I611N	possibly damaging	Het
Mgat5	T	C	1: 127,325,287 (GRCm39)	F385L	probably damaging	Het
Npepps	T	C	11: 97,149,166 (GRCm39)	T17A	possibly damaging	Het
Or4c125	T	C	2: 89,170,366 (GRCm39)	I93M	probably benign	Het
Or4n4b	A	G	14: 50,535,969 (GRCm39)	S266P	probably benign	Het
Or5p60	A	T	7: 107,724,371 (GRCm39)	I33N	possibly damaging	Het
Or7g29	A	T	9: 19,286,703 (GRCm39)	L158*	probably null	Het
Parg	T	C	14: 31,993,579 (GRCm39)		probably benign	Het
Rad51ap2	A	G	12: 11,508,139 (GRCm39)	D687G	probably benign	Het
Sh3bp1	T	G	15: 78,792,192 (GRCm39)	S450A	probably damaging	Het
Skap2	T	C	6: 51,973,014 (GRCm39)	D90G	possibly damaging	Het
Smc5	C	T	19: 23,205,548 (GRCm39)	R796H	probably damaging	Het
Tdrd12	A	C	7: 35,221,348 (GRCm39)	I146S	probably damaging	Het
Tinf2	T	C	14: 55,918,363 (GRCm39)		probably benign	Het
Trio	G	A	15: 27,741,119 (GRCm39)	T2702I	probably benign	Het
Vmn1r88	T	A	7: 12,912,229 (GRCm39)	M195K	probably benign	Het
Vmn2r110	T	C	17: 20,794,122 (GRCm39)	H849R	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r4	C	T	3: 64,298,431 (GRCm39)	G566R	probably damaging	Het
Wdpcp	A	G	11: 21,661,630 (GRCm39)	T301A	probably 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
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
R1224:Clstn3	UTSW	6	124,434,878 (GRCm39)	missense	probably benign
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

Posted On

2014-05-07