Mutagenetix > Incidental Mutation

Incidental Mutation 'R0012:Clstn1'

32541

Institutional Source

Beutler Lab

Gene Symbol

Clstn1

Ensembl Gene

ENSMUSG00000039953

Gene Name

calsyntenin 1

Synonyms

Cst-1, calsyntenin-1, 1810034E21Rik, alcadein alpha

MMRRC Submission

038307-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149586468-149648899 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 149634796 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 361 (V361M)

Ref Sequence

ENSEMBL: ENSMUSP00000101316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039144] [ENSMUST00000105691]

AlphaFold

Q9EPL2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039144
AA Change: V371M

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036962
Gene: ENSMUSG00000039953
AA Change: V371M

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	59	162	1.25e-11	SMART
CA	185	263	1.03e-3	SMART
Pfam:Laminin_G_3	365	510	3.3e-9	PFAM
low complexity region	663	674	N/A	INTRINSIC
transmembrane domain	860	882	N/A	INTRINSIC
coiled coil region	915	949	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105691
AA Change: V361M

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101316
Gene: ENSMUSG00000039953
AA Change: V361M

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	59	152	2.91e-12	SMART
CA	175	253	1.03e-3	SMART
Pfam:Laminin_G_3	350	544	1.1e-12	PFAM
low complexity region	653	664	N/A	INTRINSIC
transmembrane domain	850	872	N/A	INTRINSIC
coiled coil region	905	939	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151895

Meta Mutation Damage Score

0.2773

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

98% (81/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Juvenile mice homozygous for a null allele show reduced basal excitatory synaptic transmission, abnormal excitatory postsynaptic currents, enhanced NMDA receptor-dependent long term potentiation, and delayed dendritic spine maturation in CA1 hippocampal pyramidal cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	A	T	2: 131,052,920	L687Q	probably damaging	Het
Adap1	A	G	5: 139,307,734		probably benign	Het
Add2	T	A	6: 86,098,628	V253E	probably damaging	Het
Agtr1a	A	T	13: 30,381,749	I266F	probably damaging	Het
Anxa9	A	G	3: 95,308,095		probably benign	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Asna1	T	C	8: 85,025,096		probably benign	Het
Bnip3	A	G	7: 138,898,672		probably benign	Het
Brwd1	A	C	16: 96,059,652	S311R	probably damaging	Het
C2cd3	G	A	7: 100,418,522	V871M	possibly damaging	Het
Cacul1	A	G	19: 60,564,253	W145R	probably damaging	Het
Celf5	C	A	10: 81,469,512	V141L	probably damaging	Het
Cfap206	C	A	4: 34,714,519	L392F	possibly damaging	Het
Chd2	G	T	7: 73,455,519	T192K	probably damaging	Het
Chrna10	T	C	7: 102,115,057	N40S	possibly damaging	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clspn	T	A	4: 126,564,929		probably benign	Het
Col5a3	A	T	9: 20,777,108		probably benign	Het
Copb1	T	A	7: 114,237,408	K366N	probably damaging	Het
Cul9	G	A	17: 46,538,510	R570C	probably benign	Het
Cyp2c70	A	T	19: 40,187,243	L7Q	probably null	Het
Dock2	T	C	11: 34,783,795	E10G	possibly damaging	Het
Dpysl4	T	G	7: 139,097,883	I412S	probably benign	Het
Eaf2	T	A	16: 36,808,174		probably benign	Het
Fasl	T	C	1: 161,788,164	D41G	probably benign	Het
Fat2	A	G	11: 55,262,871	V3505A	probably benign	Het
Fbxo24	A	G	5: 137,621,994	F101S	probably damaging	Het
Fdft1	T	C	14: 63,177,698	I28M	probably benign	Het
Gcnt3	T	C	9: 70,034,085	I400M	probably benign	Het
Gpd2	T	A	2: 57,338,868	M228K	probably damaging	Het
Gsap	T	A	5: 21,226,229		probably benign	Het
Hipk1	A	G	3: 103,763,680	M467T	probably damaging	Het
Hmgb4	T	A	4: 128,260,725	I17F	probably damaging	Het
Ints10	C	A	8: 68,807,475	L284M	probably benign	Het
Kif17	T	G	4: 138,293,748	S606A	probably damaging	Het
Lifr	C	A	15: 7,175,608	T442K	possibly damaging	Het
Lypd4	A	G	7: 24,865,332	L127P	probably damaging	Het
Lyst	A	G	13: 13,687,694	H2605R	probably benign	Het
Map3k4	A	G	17: 12,238,189	S1289P	probably damaging	Het
Mgam	T	A	6: 40,765,256		probably null	Het
Mob1b	G	A	5: 88,756,084		probably benign	Het
Mrgpra1	A	G	7: 47,335,470	S154P	probably damaging	Het
Ms4a4c	C	A	19: 11,418,980		probably benign	Het
Mthfd2l	A	T	5: 90,961,383	H224L	probably damaging	Het
Myh8	T	C	11: 67,300,021	Y1350H	probably benign	Het
Nectin2	T	C	7: 19,730,744		probably benign	Het
Nos1	A	C	5: 117,893,902	N305T	probably damaging	Het
Ogfrl1	T	A	1: 23,370,125	Q340L	possibly damaging	Het
Olfr1318	A	T	2: 112,156,826	N292Y	possibly damaging	Het
Olfr1502	C	A	19: 13,861,823	T10K	probably damaging	Het
Olfr170	T	C	16: 19,606,440	N76S	probably benign	Het
Olfr427	T	G	1: 174,100,207	F250V	probably damaging	Het
Orc1	T	C	4: 108,595,646		probably null	Het
Plekhg5	C	A	4: 152,104,750	D249E	probably benign	Het
Plet1	A	G	9: 50,499,130	I74V	probably benign	Het
Psmd2	T	A	16: 20,661,684	D718E	probably damaging	Het
Rab33b	G	T	3: 51,484,316		probably benign	Het
Rae1	T	A	2: 173,002,673	F4I	unknown	Het
Ralgapa2	A	G	2: 146,412,752	Y821H	probably benign	Het
Scd2	G	A	19: 44,301,246	V227I	probably benign	Het
Sharpin	G	T	15: 76,348,343	P156T	possibly damaging	Het
Slc38a4	C	T	15: 96,999,629	R435H	probably damaging	Het
Snrnp200	T	C	2: 127,228,549	V1061A	probably benign	Het
Suclg1	A	G	6: 73,270,997	T234A	possibly damaging	Het
Swsap1	T	C	9: 21,957,022	C197R	probably benign	Het
Tbx15	A	G	3: 99,352,096	T428A	probably benign	Het
Tet2	T	C	3: 133,476,558	Y1215C	probably damaging	Het
Tjp1	A	G	7: 65,329,775		probably benign	Het
Tmem209	G	T	6: 30,502,113		probably benign	Het
Tnpo3	T	C	6: 29,589,177	E58G	probably damaging	Het
Trp53bp2	T	A	1: 182,444,718	M464K	probably damaging	Het
Ttc32	A	G	12: 9,035,897	Y148C	possibly damaging	Het
Unc80	T	C	1: 66,507,391	S541P	probably damaging	Het
Ushbp1	T	C	8: 71,395,040		probably benign	Het
Vmn2r100	A	G	17: 19,504,874	M22V	probably benign	Het
Vmn2r100	A	T	17: 19,526,034	E485V	probably damaging	Het
Wdr24	G	A	17: 25,827,113	V471I	probably benign	Het
Zfp35	T	A	18: 24,002,944	M115K	probably benign	Het
Zfp429	G	A	13: 67,390,677	S216L	probably benign	Het
Zfp644	T	G	5: 106,635,043	E1155A	probably benign	Het

Other mutations in Clstn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Clstn1	APN	4	149635243	missense	probably damaging	0.99
IGL00585:Clstn1	APN	4	149638312	missense	probably benign	0.05
IGL00911:Clstn1	APN	4	149643191	splice site	probably benign
IGL01394:Clstn1	APN	4	149634782	missense	possibly damaging	0.87
IGL02193:Clstn1	APN	4	149645352	missense	probably benign	0.03
IGL02406:Clstn1	APN	4	149627359	missense	probably damaging	1.00
IGL02501:Clstn1	APN	4	149631842	missense	probably damaging	1.00
IGL02641:Clstn1	APN	4	149629511	missense	probably null	1.00
R0020:Clstn1	UTSW	4	149634796	missense	probably damaging	0.96
R0021:Clstn1	UTSW	4	149634796	missense	probably damaging	0.96
R0026:Clstn1	UTSW	4	149634796	missense	probably damaging	0.96
R0031:Clstn1	UTSW	4	149634796	missense	probably damaging	0.96
R0038:Clstn1	UTSW	4	149634796	missense	probably damaging	0.96
R0062:Clstn1	UTSW	4	149634796	missense	probably damaging	0.96
R0064:Clstn1	UTSW	4	149634796	missense	probably damaging	0.96
R0193:Clstn1	UTSW	4	149634796	missense	probably damaging	0.96
R0279:Clstn1	UTSW	4	149643674	missense	probably damaging	1.00
R0394:Clstn1	UTSW	4	149644178	missense	probably benign	0.00
R0609:Clstn1	UTSW	4	149629300	splice site	probably null
R0685:Clstn1	UTSW	4	149646855	missense	probably benign	0.24
R0724:Clstn1	UTSW	4	149643624	missense	possibly damaging	0.84
R1016:Clstn1	UTSW	4	149646829	missense	probably benign	0.21
R1470:Clstn1	UTSW	4	149634722	missense	possibly damaging	0.94
R1470:Clstn1	UTSW	4	149634722	missense	possibly damaging	0.94
R1622:Clstn1	UTSW	4	149629407	missense	probably damaging	0.97
R1680:Clstn1	UTSW	4	149643726	missense	probably benign	0.02
R3803:Clstn1	UTSW	4	149635339	missense	probably damaging	0.99
R3836:Clstn1	UTSW	4	149638333	missense	probably damaging	1.00
R3838:Clstn1	UTSW	4	149638333	missense	probably damaging	1.00
R4923:Clstn1	UTSW	4	149645029	missense	probably benign	0.07
R5024:Clstn1	UTSW	4	149635294	missense	possibly damaging	0.91
R5919:Clstn1	UTSW	4	149635246	missense	probably damaging	1.00
R6269:Clstn1	UTSW	4	149644067	missense	probably benign	0.00
R6354:Clstn1	UTSW	4	149643216	missense	probably benign	0.05
R6382:Clstn1	UTSW	4	149626120	splice site	probably null
R6573:Clstn1	UTSW	4	149643689	missense	probably damaging	1.00
R7342:Clstn1	UTSW	4	149629430	missense	probably damaging	0.98
R7457:Clstn1	UTSW	4	149634916	missense	probably benign	0.03
R7571:Clstn1	UTSW	4	149646287	missense	probably benign	0.38
R7682:Clstn1	UTSW	4	149626101	missense	possibly damaging	0.72
R7738:Clstn1	UTSW	4	149635354	missense	probably damaging	1.00
R7803:Clstn1	UTSW	4	149631871	missense	probably damaging	1.00
R7904:Clstn1	UTSW	4	149614137	missense	probably benign	0.01
R7918:Clstn1	UTSW	4	149644051	missense	probably damaging	0.98
R8007:Clstn1	UTSW	4	149631848	missense	probably damaging	1.00
R8821:Clstn1	UTSW	4	149646323	missense	probably benign	0.00
R8831:Clstn1	UTSW	4	149646323	missense	probably benign	0.00
R9169:Clstn1	UTSW	4	149646865	missense	possibly damaging	0.68
R9173:Clstn1	UTSW	4	149626107	missense	probably benign	0.08
R9463:Clstn1	UTSW	4	149614107	missense	possibly damaging	0.92
R9491:Clstn1	UTSW	4	149647472	missense	probably damaging	1.00
R9615:Clstn1	UTSW	4	149638300	missense	probably damaging	1.00
X0020:Clstn1	UTSW	4	149635251	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCCCTTAGTGAGGCACTGAACC -3'
(R):5'- GTGTCCCCAGCATAGAACGAAGAG -3'

Sequencing Primer
(F):5'- GTGAGGCACTGAACCACTCC -3'
(R):5'- ACCCAGTCCCTGTGAGGAG -3'

Posted On

2013-05-09