Mutagenetix > Incidental Mutation

Incidental Mutation 'R8406:Clstn3'

652414

Institutional Source

Beutler Lab

Gene Symbol

Clstn3

Ensembl Gene

ENSMUSG00000008153

Gene Name

calsyntenin 3

Synonyms

alcadein-beta, Cst-3, CSTN3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8406 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124430759-124464794 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124462177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 40 (N40K)

Ref Sequence

ENSEMBL: ENSMUSP00000008297 (fasta)

Gene Model

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

AlphaFold

Q99JH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000008297
AA Change: N40K

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

SMART Domains

Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: N40K

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: N3K

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

SMART Domains

Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: N3K

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 damaging
Transcript: ENSMUST00000150774
AA Change: N3K

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

SMART Domains

Protein: ENSMUSP00000145422
Gene: ENSMUSG00000008153
AA Change: N3K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
Abca8a	A	G	11: 110,086,517	F139L	probably damaging	Het
Adgrg6	A	T	10: 14,467,338	D288E	probably benign	Het
Agbl1	A	G	7: 76,418,667	E327G		Het
Aipl1	T	A	11: 72,031,506	M126L	possibly damaging	Het
Alkal2	G	T	12: 30,884,851	G23V	probably damaging	Het
Arl3	A	T	19: 46,542,384	S157T	probably benign	Het
Armc3	A	T	2: 19,235,554	I41F	probably damaging	Het
Atg9a	A	C	1: 75,190,384	Y8D	probably damaging	Het
Atp10b	T	G	11: 43,203,157	H509Q	probably benign	Het
Cabyr	C	A	18: 12,750,747	T97K	probably benign	Het
Ccdc91	T	C	6: 147,537,422	F174S	possibly damaging	Het
Cep350	A	T	1: 155,922,418	H1207Q	probably benign	Het
Col4a4	G	A	1: 82,523,890	P381S	unknown	Het
Cpne5	A	T	17: 29,209,481	F116Y	probably benign	Het
Csf2rb2	T	C	15: 78,287,016	T457A	probably benign	Het
Cyb5d2	T	C	11: 72,789,133	E112G	probably benign	Het
Cyp2b13	T	C	7: 26,081,798	F212L	probably benign	Het
Dlx6	T	G	6: 6,863,779	S134A	probably benign	Het
Egln1	A	G	8: 124,911,750	Y380H	probably benign	Het
Fam160a1	G	T	3: 85,672,720	P726Q	probably benign	Het
Fbxl13	A	T	5: 21,523,654	I479N	probably damaging	Het
Fis1	A	G	5: 136,963,011	K20E	probably benign	Het
Foxk1	G	T	5: 142,401,773	V84L	unknown	Het
Gdf5	C	A	2: 155,942,352	G227W	probably damaging	Het
Ghrh	T	A	2: 157,333,736	T13S	probably benign	Het
Gnb2	A	G	5: 137,528,603	L308P	probably damaging	Het
Grik2	A	T	10: 49,272,767	V574D	probably damaging	Het
Hydin	A	T	8: 110,609,911	I5107F	possibly damaging	Het
Kl	A	T	5: 150,982,764	Y533F	probably benign	Het
Man2b1	G	T	8: 85,096,278	R816L	probably damaging	Het
Myo5c	T	C	9: 75,275,541	Y821H	probably damaging	Het
Myo7b	A	T	18: 31,959,813	C2076S	probably damaging	Het
Naip6	C	T	13: 100,300,276	A580T	possibly damaging	Het
Nectin2	A	T	7: 19,738,350	V38E	probably damaging	Het
Olfr538	A	T	7: 140,574,131		probably benign	Het
Osbpl9	T	C	4: 109,064,573	Y536C	possibly damaging	Het
Pcdh18	T	G	3: 49,756,549	I106L	probably damaging	Het
Pde4dip	T	C	3: 97,699,112	K2149E	probably benign	Het
Pds5a	A	T	5: 65,646,338	C588S	probably benign	Het
Pop1	T	C	15: 34,529,170	M812T	probably benign	Het
Pou2f3	T	C	9: 43,139,858	T178A	probably damaging	Het
Rab44	C	T	17: 29,140,320	A494V	unknown	Het
Ros1	G	C	10: 52,101,845	T1456S	possibly damaging	Het
Rubcnl	T	G	14: 75,051,985	F644L	probably damaging	Het
Saraf	C	T	8: 34,165,448	P227L	probably benign	Het
Sh3glb1	T	G	3: 144,691,437	E383D	probably damaging	Het
Sh3rf3	T	C	10: 59,083,585	V508A	probably damaging	Het
Sirt6	A	T	10: 81,622,494	H308Q	probably benign	Het
Slc29a1	T	A	17: 45,589,780	I119F	probably damaging	Het
Smtnl1	C	T	2: 84,818,398	E171K	probably benign	Het
Spg11	T	A	2: 122,093,442	E799D	probably damaging	Het
Tecpr1	A	T	5: 144,200,840	W894R	probably damaging	Het
Tiam2	A	C	17: 3,507,790	I1230L	possibly damaging	Het
Tnfrsf8	A	G	4: 145,292,695	L190P	probably damaging	Het
Trim35	C	T	14: 66,297,275	T69M	possibly damaging	Het
Ttll7	T	C	3: 146,940,024	Y546H	probably benign	Het
Ubash3b	C	T	9: 41,029,675	G389R	probably damaging	Het
Vma21-ps	C	T	4: 52,497,034	V71I	probably damaging	Het
Vmn1r43	T	A	6: 89,870,432	H24L	possibly damaging	Het
Vps37c	T	A	19: 10,710,355	L60Q	probably damaging	Het
Ythdf2	A	G	4: 132,204,635	W405R	probably damaging	Het
Zfp775	T	C	6: 48,620,703	C504R	probably damaging	Het
Zfp82	A	G	7: 30,062,227		probably null	Het
Zpr1	T	A	9: 46,274,102	I127N	probably damaging	Het

Other mutations in Clstn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Clstn3	APN	6	124462139	missense	probably damaging	1.00
IGL01415:Clstn3	APN	6	124438822	nonsense	probably null
IGL01521:Clstn3	APN	6	124458031	nonsense	probably null
IGL01537:Clstn3	APN	6	124431600	missense	possibly damaging	0.91
IGL01729:Clstn3	APN	6	124449794	missense	probably benign	0.06
IGL01879:Clstn3	APN	6	124438810	missense	probably damaging	1.00
IGL01998:Clstn3	APN	6	124458663	missense	probably damaging	1.00
IGL03130:Clstn3	APN	6	124459263	missense	probably damaging	0.98
IGL03405:Clstn3	APN	6	124438368	missense	possibly damaging	0.95
PIT4403001:Clstn3	UTSW	6	124458023	missense	probably damaging	1.00
R0049:Clstn3	UTSW	6	124459853	missense	possibly damaging	0.87
R0049:Clstn3	UTSW	6	124459853	missense	possibly damaging	0.87
R0208:Clstn3	UTSW	6	124432169	splice site	probably benign
R0276:Clstn3	UTSW	6	124431740	splice site	probably benign
R0440:Clstn3	UTSW	6	124451413	missense	probably damaging	1.00
R0612:Clstn3	UTSW	6	124449500	missense	probably damaging	0.98
R1200:Clstn3	UTSW	6	124459170	missense	probably damaging	1.00
R1224:Clstn3	UTSW	6	124457919	missense	probably benign
R1378:Clstn3	UTSW	6	124438419	missense	probably damaging	1.00
R1491:Clstn3	UTSW	6	124437490	missense	possibly damaging	0.51
R1495:Clstn3	UTSW	6	124449917	missense	probably benign	0.00
R1511:Clstn3	UTSW	6	124462169	missense	probably damaging	1.00
R1655:Clstn3	UTSW	6	124437427	missense	probably damaging	1.00
R1731:Clstn3	UTSW	6	124431632	missense	probably benign	0.04
R1734:Clstn3	UTSW	6	124436814	splice site	probably benign
R1751:Clstn3	UTSW	6	124431999	missense	probably damaging	1.00
R1954:Clstn3	UTSW	6	124459298	missense	possibly damaging	0.94
R2133:Clstn3	UTSW	6	124449503	missense	probably benign
R2192:Clstn3	UTSW	6	124459207	missense	probably damaging	1.00
R2314:Clstn3	UTSW	6	124450717	missense	probably benign	0.39
R2874:Clstn3	UTSW	6	124438335	missense	probably damaging	1.00
R3500:Clstn3	UTSW	6	124431711	missense	probably benign	0.01
R3761:Clstn3	UTSW	6	124457876	missense	possibly damaging	0.54
R3878:Clstn3	UTSW	6	124457942	missense	probably damaging	0.97
R3927:Clstn3	UTSW	6	124451368	missense	probably damaging	1.00
R3934:Clstn3	UTSW	6	124457942	missense	probably damaging	0.97
R3935:Clstn3	UTSW	6	124457942	missense	probably damaging	0.97
R4063:Clstn3	UTSW	6	124449833	missense	possibly damaging	0.51
R4402:Clstn3	UTSW	6	124456980	missense	probably damaging	0.96
R4534:Clstn3	UTSW	6	124459220	missense	probably damaging	1.00
R4785:Clstn3	UTSW	6	124437372	splice site	probably null
R4834:Clstn3	UTSW	6	124431953	splice site	probably null
R5921:Clstn3	UTSW	6	124431580	utr 3 prime	probably benign
R5932:Clstn3	UTSW	6	124438332	missense	probably benign	0.01
R6025:Clstn3	UTSW	6	124431664	missense	possibly damaging	0.73
R6101:Clstn3	UTSW	6	124461670	missense	probably damaging	1.00
R6360:Clstn3	UTSW	6	124438429	missense	possibly damaging	0.88
R6578:Clstn3	UTSW	6	124450704	critical splice donor site	probably null
R6813:Clstn3	UTSW	6	124436935	missense	probably benign	0.00
R7380:Clstn3	UTSW	6	124456989	missense	probably benign	0.01
R7419:Clstn3	UTSW	6	124458129	missense	probably benign	0.05
R7625:Clstn3	UTSW	6	124437418	nonsense	probably null
R7780:Clstn3	UTSW	6	124462202	missense	probably damaging	0.98
R7936:Clstn3	UTSW	6	124432013	missense	possibly damaging	0.73
R7939:Clstn3	UTSW	6	124462199	missense	probably damaging	1.00
R8047:Clstn3	UTSW	6	124432013	missense	possibly damaging	0.73
R8079:Clstn3	UTSW	6	124459804	missense	probably damaging	1.00
R8085:Clstn3	UTSW	6	124458724	missense	probably benign	0.23
R8299:Clstn3	UTSW	6	124437373	critical splice donor site	probably null
R8685:Clstn3	UTSW	6	124456908	missense	probably damaging	1.00
R9045:Clstn3	UTSW	6	124431962	missense	probably damaging	0.98
R9209:Clstn3	UTSW	6	124431612	missense	probably benign	0.02
R9264:Clstn3	UTSW	6	124459768	missense	probably damaging	1.00
R9268:Clstn3	UTSW	6	124456921	missense	probably damaging	0.99
R9443:Clstn3	UTSW	6	124451399	missense	probably damaging	1.00
RF014:Clstn3	UTSW	6	124459266	nonsense	probably null
X0066:Clstn3	UTSW	6	124449811	missense	probably benign	0.13
Z1176:Clstn3	UTSW	6	124459200	missense	probably damaging	1.00
Z1177:Clstn3	UTSW	6	124449781	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTTAGGTTCTTCAGCGCAG -3'
(R):5'- CGAGAGTTGCTGGTTCCTTC -3'

Sequencing Primer
(F):5'- CTCTGATGCTTTCCCTGGG -3'
(R):5'- CTTCTCCCTCCGGCAAGGTG -3'

Posted On

2020-10-20