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, alcadein alpha, calsyntenin-1, 1810034E21Rik

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

149670925-149733356 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 149719253 bp (GRCm39)

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: 130,894,840 (GRCm39)	L687Q	probably damaging	Het
Adap1	A	G	5: 139,293,489 (GRCm39)		probably benign	Het
Add2	T	A	6: 86,075,610 (GRCm39)	V253E	probably damaging	Het
Agtr1a	A	T	13: 30,565,732 (GRCm39)	I266F	probably damaging	Het
Anxa9	A	G	3: 95,215,406 (GRCm39)		probably benign	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
Bnip3	A	G	7: 138,500,401 (GRCm39)		probably benign	Het
Brwd1	A	C	16: 95,860,852 (GRCm39)	S311R	probably damaging	Het
C2cd3	G	A	7: 100,067,729 (GRCm39)	V871M	possibly damaging	Het
Cacul1	A	G	19: 60,552,691 (GRCm39)	W145R	probably damaging	Het
Celf5	C	A	10: 81,305,346 (GRCm39)	V141L	probably damaging	Het
Cfap206	C	A	4: 34,714,519 (GRCm39)	L392F	possibly damaging	Het
Chd2	G	T	7: 73,105,267 (GRCm39)	T192K	probably damaging	Het
Chrna10	T	C	7: 101,764,264 (GRCm39)	N40S	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clspn	T	A	4: 126,458,722 (GRCm39)		probably benign	Het
Col5a3	A	T	9: 20,688,404 (GRCm39)		probably benign	Het
Copb1	T	A	7: 113,836,643 (GRCm39)	K366N	probably damaging	Het
Cul9	G	A	17: 46,849,436 (GRCm39)	R570C	probably benign	Het
Cyp2c70	A	T	19: 40,175,687 (GRCm39)	L7Q	probably null	Het
Dock2	T	C	11: 34,674,622 (GRCm39)	E10G	possibly damaging	Het
Dpysl4	T	G	7: 138,677,799 (GRCm39)	I412S	probably benign	Het
Eaf2	T	A	16: 36,628,536 (GRCm39)		probably benign	Het
Fasl	T	C	1: 161,615,733 (GRCm39)	D41G	probably benign	Het
Fat2	A	G	11: 55,153,697 (GRCm39)	V3505A	probably benign	Het
Fbxo24	A	G	5: 137,620,256 (GRCm39)	F101S	probably damaging	Het
Fdft1	T	C	14: 63,415,147 (GRCm39)	I28M	probably benign	Het
Gcnt3	T	C	9: 69,941,367 (GRCm39)	I400M	probably benign	Het
Get3	T	C	8: 85,751,725 (GRCm39)		probably benign	Het
Gpd2	T	A	2: 57,228,880 (GRCm39)	M228K	probably damaging	Het
Gsap	T	A	5: 21,431,227 (GRCm39)		probably benign	Het
Hipk1	A	G	3: 103,670,996 (GRCm39)	M467T	probably damaging	Het
Hmgb4	T	A	4: 128,154,518 (GRCm39)	I17F	probably damaging	Het
Ints10	C	A	8: 69,260,127 (GRCm39)	L284M	probably benign	Het
Kif17	T	G	4: 138,021,059 (GRCm39)	S606A	probably damaging	Het
Lifr	C	A	15: 7,205,089 (GRCm39)	T442K	possibly damaging	Het
Lypd4	A	G	7: 24,564,757 (GRCm39)	L127P	probably damaging	Het
Lyst	A	G	13: 13,862,279 (GRCm39)	H2605R	probably benign	Het
Map3k4	A	G	17: 12,457,076 (GRCm39)	S1289P	probably damaging	Het
Mgam	T	A	6: 40,742,190 (GRCm39)		probably null	Het
Mob1b	G	A	5: 88,903,943 (GRCm39)		probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Ms4a4c	C	A	19: 11,396,344 (GRCm39)		probably benign	Het
Mthfd2l	A	T	5: 91,109,242 (GRCm39)	H224L	probably damaging	Het
Myh8	T	C	11: 67,190,847 (GRCm39)	Y1350H	probably benign	Het
Nectin2	T	C	7: 19,464,669 (GRCm39)		probably benign	Het
Nos1	A	C	5: 118,031,967 (GRCm39)	N305T	probably damaging	Het
Ogfrl1	T	A	1: 23,409,206 (GRCm39)	Q340L	possibly damaging	Het
Or2aj5	T	C	16: 19,425,190 (GRCm39)	N76S	probably benign	Het
Or4f62	A	T	2: 111,987,171 (GRCm39)	N292Y	possibly damaging	Het
Or6k14	T	G	1: 173,927,773 (GRCm39)	F250V	probably damaging	Het
Or9i1	C	A	19: 13,839,187 (GRCm39)	T10K	probably damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Plekhg5	C	A	4: 152,189,207 (GRCm39)	D249E	probably benign	Het
Plet1	A	G	9: 50,410,430 (GRCm39)	I74V	probably benign	Het
Psmd2	T	A	16: 20,480,434 (GRCm39)	D718E	probably damaging	Het
Rab33b	G	T	3: 51,391,737 (GRCm39)		probably benign	Het
Rae1	T	A	2: 172,844,466 (GRCm39)	F4I	unknown	Het
Ralgapa2	A	G	2: 146,254,672 (GRCm39)	Y821H	probably benign	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Sharpin	G	T	15: 76,232,543 (GRCm39)	P156T	possibly damaging	Het
Slc38a4	C	T	15: 96,897,510 (GRCm39)	R435H	probably damaging	Het
Snrnp200	T	C	2: 127,070,469 (GRCm39)	V1061A	probably benign	Het
Suclg1	A	G	6: 73,247,980 (GRCm39)	T234A	possibly damaging	Het
Swsap1	T	C	9: 21,868,318 (GRCm39)	C197R	probably benign	Het
Tbx15	A	G	3: 99,259,412 (GRCm39)	T428A	probably benign	Het
Tet2	T	C	3: 133,182,319 (GRCm39)	Y1215C	probably damaging	Het
Tjp1	A	G	7: 64,979,523 (GRCm39)		probably benign	Het
Tmem209	G	T	6: 30,502,112 (GRCm39)		probably benign	Het
Tnpo3	T	C	6: 29,589,176 (GRCm39)	E58G	probably damaging	Het
Trp53bp2	T	A	1: 182,272,283 (GRCm39)	M464K	probably damaging	Het
Ttc32	A	G	12: 9,085,897 (GRCm39)	Y148C	possibly damaging	Het
Unc80	T	C	1: 66,546,550 (GRCm39)	S541P	probably damaging	Het
Ushbp1	T	C	8: 71,847,684 (GRCm39)		probably benign	Het
Vmn2r100	A	G	17: 19,725,136 (GRCm39)	M22V	probably benign	Het
Vmn2r100	A	T	17: 19,746,296 (GRCm39)	E485V	probably damaging	Het
Wdr24	G	A	17: 26,046,087 (GRCm39)	V471I	probably benign	Het
Zfp35	T	A	18: 24,136,001 (GRCm39)	M115K	probably benign	Het
Zfp429	G	A	13: 67,538,796 (GRCm39)	S216L	probably benign	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	probably benign	Het

Other mutations in Clstn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Clstn1	APN	4	149,719,700 (GRCm39)	missense	probably damaging	0.99
IGL00585:Clstn1	APN	4	149,722,769 (GRCm39)	missense	probably benign	0.05
IGL00911:Clstn1	APN	4	149,727,648 (GRCm39)	splice site	probably benign
IGL01394:Clstn1	APN	4	149,719,239 (GRCm39)	missense	possibly damaging	0.87
IGL02193:Clstn1	APN	4	149,729,809 (GRCm39)	missense	probably benign	0.03
IGL02406:Clstn1	APN	4	149,711,816 (GRCm39)	missense	probably damaging	1.00
IGL02501:Clstn1	APN	4	149,716,299 (GRCm39)	missense	probably damaging	1.00
IGL02641:Clstn1	APN	4	149,713,968 (GRCm39)	missense	probably null	1.00
R0020:Clstn1	UTSW	4	149,719,253 (GRCm39)	missense	probably damaging	0.96
R0021:Clstn1	UTSW	4	149,719,253 (GRCm39)	missense	probably damaging	0.96
R0026:Clstn1	UTSW	4	149,719,253 (GRCm39)	missense	probably damaging	0.96
R0031:Clstn1	UTSW	4	149,719,253 (GRCm39)	missense	probably damaging	0.96
R0038:Clstn1	UTSW	4	149,719,253 (GRCm39)	missense	probably damaging	0.96
R0062:Clstn1	UTSW	4	149,719,253 (GRCm39)	missense	probably damaging	0.96
R0064:Clstn1	UTSW	4	149,719,253 (GRCm39)	missense	probably damaging	0.96
R0193:Clstn1	UTSW	4	149,719,253 (GRCm39)	missense	probably damaging	0.96
R0279:Clstn1	UTSW	4	149,728,131 (GRCm39)	missense	probably damaging	1.00
R0394:Clstn1	UTSW	4	149,728,635 (GRCm39)	missense	probably benign	0.00
R0609:Clstn1	UTSW	4	149,713,757 (GRCm39)	splice site	probably null
R0685:Clstn1	UTSW	4	149,731,312 (GRCm39)	missense	probably benign	0.24
R0724:Clstn1	UTSW	4	149,728,081 (GRCm39)	missense	possibly damaging	0.84
R1016:Clstn1	UTSW	4	149,731,286 (GRCm39)	missense	probably benign	0.21
R1470:Clstn1	UTSW	4	149,719,179 (GRCm39)	missense	possibly damaging	0.94
R1470:Clstn1	UTSW	4	149,719,179 (GRCm39)	missense	possibly damaging	0.94
R1622:Clstn1	UTSW	4	149,713,864 (GRCm39)	missense	probably damaging	0.97
R1680:Clstn1	UTSW	4	149,728,183 (GRCm39)	missense	probably benign	0.02
R3803:Clstn1	UTSW	4	149,719,796 (GRCm39)	missense	probably damaging	0.99
R3836:Clstn1	UTSW	4	149,722,790 (GRCm39)	missense	probably damaging	1.00
R3838:Clstn1	UTSW	4	149,722,790 (GRCm39)	missense	probably damaging	1.00
R4923:Clstn1	UTSW	4	149,729,486 (GRCm39)	missense	probably benign	0.07
R5024:Clstn1	UTSW	4	149,719,751 (GRCm39)	missense	possibly damaging	0.91
R5919:Clstn1	UTSW	4	149,719,703 (GRCm39)	missense	probably damaging	1.00
R6269:Clstn1	UTSW	4	149,728,524 (GRCm39)	missense	probably benign	0.00
R6354:Clstn1	UTSW	4	149,727,673 (GRCm39)	missense	probably benign	0.05
R6382:Clstn1	UTSW	4	149,710,577 (GRCm39)	splice site	probably null
R6573:Clstn1	UTSW	4	149,728,146 (GRCm39)	missense	probably damaging	1.00
R7342:Clstn1	UTSW	4	149,713,887 (GRCm39)	missense	probably damaging	0.98
R7457:Clstn1	UTSW	4	149,719,373 (GRCm39)	missense	probably benign	0.03
R7571:Clstn1	UTSW	4	149,730,744 (GRCm39)	missense	probably benign	0.38
R7682:Clstn1	UTSW	4	149,710,558 (GRCm39)	missense	possibly damaging	0.72
R7738:Clstn1	UTSW	4	149,719,811 (GRCm39)	missense	probably damaging	1.00
R7803:Clstn1	UTSW	4	149,716,328 (GRCm39)	missense	probably damaging	1.00
R7904:Clstn1	UTSW	4	149,698,594 (GRCm39)	missense	probably benign	0.01
R7918:Clstn1	UTSW	4	149,728,508 (GRCm39)	missense	probably damaging	0.98
R8007:Clstn1	UTSW	4	149,716,305 (GRCm39)	missense	probably damaging	1.00
R8821:Clstn1	UTSW	4	149,730,780 (GRCm39)	missense	probably benign	0.00
R8831:Clstn1	UTSW	4	149,730,780 (GRCm39)	missense	probably benign	0.00
R9169:Clstn1	UTSW	4	149,731,322 (GRCm39)	missense	possibly damaging	0.68
R9173:Clstn1	UTSW	4	149,710,564 (GRCm39)	missense	probably benign	0.08
R9463:Clstn1	UTSW	4	149,698,564 (GRCm39)	missense	possibly damaging	0.92
R9491:Clstn1	UTSW	4	149,731,929 (GRCm39)	missense	probably damaging	1.00
R9615:Clstn1	UTSW	4	149,722,757 (GRCm39)	missense	probably damaging	1.00
X0020:Clstn1	UTSW	4	149,719,708 (GRCm39)	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