Mutagenetix > Incidental Mutation

Incidental Mutation 'R7410:Clstn2'

575010

Institutional Source

Beutler Lab

Gene Symbol

Clstn2

Ensembl Gene

ENSMUSG00000032452

Gene Name

calsyntenin 2

Synonyms

2900042C18Rik, Cst-2, CS2, CSTN2

MMRRC Submission

045491-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7410 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97326448-97915234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97423920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 282 (F282L)

Ref Sequence

ENSEMBL: ENSMUSP00000035027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035027] [ENSMUST00000162295]

AlphaFold

Q9ER65

Predicted Effect

probably benign
Transcript: ENSMUST00000035027
AA Change: F282L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452
AA Change: F282L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	67	160	2e-10	SMART
CA	183	261	1.18e-3	SMART
SCOP:d1a8d_1	358	538	5e-21	SMART
Blast:LamG	380	529	3e-41	BLAST
transmembrane domain	835	857	N/A	INTRINSIC
low complexity region	901	935	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162295
AA Change: F282L

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452
AA Change: F282L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	67	160	2e-10	SMART
CA	183	261	1.18e-3	SMART
Pfam:Laminin_G_3	356	533	1.4e-9	PFAM
transmembrane domain	835	857	N/A	INTRINSIC
low complexity region	901	935	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous KO mice display deficiency in spatial learning and memory in Morris water and Barnes maze tasks and increased locomotor activity in open field test. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,512,551 (GRCm39)	S3P	unknown	Het
Adgrv1	A	T	13: 81,711,738 (GRCm39)	D1079E	probably benign	Het
Agbl5	A	T	5: 31,048,032 (GRCm39)	Y102F	possibly damaging	Het
Ankfy1	T	C	11: 72,652,330 (GRCm39)	L1094S	probably damaging	Het
Ankrd42	A	T	7: 92,259,762 (GRCm39)	V337E	possibly damaging	Het
Axl	A	G	7: 25,458,208 (GRCm39)	L849P	probably benign	Het
Bmpr2	T	C	1: 59,907,652 (GRCm39)	I915T	probably benign	Het
Cables1	T	A	18: 12,074,282 (GRCm39)	F494L	probably benign	Het
Cacna1e	A	C	1: 154,347,980 (GRCm39)	V927G	probably benign	Het
Cavin1	A	T	11: 100,849,670 (GRCm39)	V320E	probably damaging	Het
Cemip	T	G	7: 83,602,042 (GRCm39)	S916R	probably damaging	Het
Cep57	G	A	9: 13,729,980 (GRCm39)		probably benign	Het
Ces1d	T	C	8: 93,919,433 (GRCm39)	N120D	probably damaging	Het
Cfap44	A	T	16: 44,288,776 (GRCm39)	S1509C	probably damaging	Het
Chga	A	G	12: 102,528,866 (GRCm39)	D281G	probably benign	Het
Cnot1	A	T	8: 96,459,787 (GRCm39)	V1855E	possibly damaging	Het
Cnr1	T	A	4: 33,944,119 (GRCm39)	V169D	probably damaging	Het
Cpd	T	A	11: 76,673,134 (GRCm39)	H1337L	probably damaging	Het
Crabp2	T	A	3: 87,859,585 (GRCm39)	D78E	probably damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cyp2ab1	G	A	16: 20,135,475 (GRCm39)	A9V	probably benign	Het
Cyp3a41b	T	C	5: 145,514,967 (GRCm39)	D86G	probably damaging	Het
Dner	T	A	1: 84,563,332 (GRCm39)	D96V	probably damaging	Het
Duox1	C	A	2: 122,176,874 (GRCm39)	T1465N	probably damaging	Het
Ehd3	T	A	17: 74,112,428 (GRCm39)	V64E	probably benign	Het
Ehmt1	A	G	2: 24,738,080 (GRCm39)	V508A	probably benign	Het
Ephb3	G	A	16: 21,040,158 (GRCm39)	V761I	possibly damaging	Het
Fam161b	T	C	12: 84,404,575 (GRCm39)	Q35R	probably benign	Het
Fam186a	T	A	15: 99,844,826 (GRCm39)	K473*	probably null	Het
Fam227b	A	T	2: 125,960,983 (GRCm39)	D215E	probably damaging	Het
Fkbp15	C	A	4: 62,258,536 (GRCm39)	D144Y	probably damaging	Het
Galt	T	C	4: 41,757,707 (GRCm39)	I259T	possibly damaging	Het
Gbp11	G	A	5: 105,491,774 (GRCm39)	P8S	probably damaging	Het
Gfap	A	T	11: 102,783,963 (GRCm39)	M339K	probably damaging	Het
Gm14443	C	T	2: 175,011,069 (GRCm39)	R459Q	possibly damaging	Het
Grip1	A	G	10: 119,855,925 (GRCm39)	N632S	probably benign	Het
H4c18	G	A	13: 22,016,211 (GRCm39)	R40W	probably damaging	Het
Hcar1	T	G	5: 124,017,161 (GRCm39)	I177L	possibly damaging	Het
Ighv1-37	A	G	12: 114,860,099 (GRCm39)	V37A	probably damaging	Het
Ilf3	T	A	9: 21,311,100 (GRCm39)	F657L	unknown	Het
Ints2	T	G	11: 86,124,052 (GRCm39)	T579P	probably benign	Het
Iqgap1	G	T	7: 80,372,778 (GRCm39)	Y1520*	probably null	Het
Kdm4a	T	C	4: 118,001,115 (GRCm39)	H884R	possibly damaging	Het
Krtap19-1	A	T	16: 88,666,132 (GRCm39)	Y52N	unknown	Het
Lama5	A	T	2: 179,844,183 (GRCm39)		probably null	Het
Lrrc72	T	C	12: 36,272,803 (GRCm39)	N89D	probably damaging	Het
Med13l	A	G	5: 118,698,897 (GRCm39)	D16G	possibly damaging	Het
Mefv	A	G	16: 3,533,545 (GRCm39)	L242P	probably damaging	Het
Mob3c	T	C	4: 115,688,784 (GRCm39)	Y106H	probably damaging	Het
Nlrp1a	A	G	11: 71,014,683 (GRCm39)	I189T	probably damaging	Het
Nudt7	T	C	8: 114,860,559 (GRCm39)		probably benign	Het
Or13p10	T	C	4: 118,523,629 (GRCm39)	L305P	probably benign	Het
Or4f7	T	A	2: 111,644,271 (GRCm39)	I267L	probably benign	Het
Pappa	A	G	4: 65,253,956 (GRCm39)	T1537A	probably damaging	Het
Pik3r4	T	A	9: 105,527,790 (GRCm39)	V381E	probably damaging	Het
Pkd1	T	A	17: 24,794,855 (GRCm39)	Y2181N	probably damaging	Het
Pmel	G	T	10: 128,552,353 (GRCm39)	V396F	probably benign	Het
Prdm9	A	G	17: 15,765,259 (GRCm39)	I507T	possibly damaging	Het
Psme4	C	T	11: 30,765,279 (GRCm39)	Q549*	probably null	Het
Ptprg	T	A	14: 11,962,657 (GRCm38)	W152R	probably damaging	Het
Ptprm	A	C	17: 67,000,561 (GRCm39)	V1141G	probably damaging	Het
Rapgef5	G	A	12: 117,685,063 (GRCm39)	V505M	probably damaging	Het
Rnf213	T	A	11: 119,325,877 (GRCm39)	M1558K		Het
Slc35a1	A	G	4: 34,675,034 (GRCm39)	V168A	probably benign	Het
Srebf1	T	C	11: 60,096,693 (GRCm39)	T347A	probably benign	Het
Stard9	T	A	2: 120,531,978 (GRCm39)	V2745D	probably benign	Het
Taar7e	A	T	10: 23,914,424 (GRCm39)	T305S	probably benign	Het
Tie1	T	C	4: 118,337,074 (GRCm39)	S551G	probably benign	Het
Tmc5	T	A	7: 118,222,820 (GRCm39)	Y173*	probably null	Het
Tns2	T	A	15: 102,018,961 (GRCm39)	V384D	probably damaging	Het
Tubgcp4	T	A	2: 121,014,890 (GRCm39)	Y267N	probably damaging	Het
Vmn1r53	A	G	6: 90,200,700 (GRCm39)	V208A	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdfy4	T	C	14: 32,696,191 (GRCm39)	D2784G		Het
Zfp712	A	C	13: 67,189,400 (GRCm39)	S376A	probably benign	Het
Znrf3	C	T	11: 5,238,955 (GRCm39)	C232Y	unknown	Het

Other mutations in Clstn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Clstn2	APN	9	97,464,505 (GRCm39)	splice site	probably benign
IGL00563:Clstn2	APN	9	97,464,505 (GRCm39)	splice site	probably benign
IGL00733:Clstn2	APN	9	97,365,102 (GRCm39)	missense	probably damaging	1.00
IGL01303:Clstn2	APN	9	97,365,128 (GRCm39)	nonsense	probably null
IGL01935:Clstn2	APN	9	97,345,521 (GRCm39)	missense	probably damaging	1.00
IGL02157:Clstn2	APN	9	97,423,928 (GRCm39)	missense	probably benign
IGL02974:Clstn2	APN	9	97,414,760 (GRCm39)	missense	probably damaging	1.00
IGL03164:Clstn2	APN	9	97,681,462 (GRCm39)	missense	possibly damaging	0.50
IGL03298:Clstn2	APN	9	97,338,625 (GRCm39)	missense	probably damaging	1.00
R0653:Clstn2	UTSW	9	97,340,257 (GRCm39)	missense	probably damaging	1.00
R0845:Clstn2	UTSW	9	97,452,681 (GRCm39)	missense	probably benign	0.39
R0992:Clstn2	UTSW	9	97,327,765 (GRCm39)	missense	probably benign	0.00
R1105:Clstn2	UTSW	9	97,465,552 (GRCm39)	splice site	probably null
R1112:Clstn2	UTSW	9	97,340,281 (GRCm39)	missense	possibly damaging	0.92
R1264:Clstn2	UTSW	9	97,339,662 (GRCm39)	missense	probably benign	0.28
R1275:Clstn2	UTSW	9	97,339,483 (GRCm39)	missense	probably benign	0.00
R1329:Clstn2	UTSW	9	97,340,227 (GRCm39)	missense	probably damaging	1.00
R1396:Clstn2	UTSW	9	97,343,446 (GRCm39)	missense	probably benign	0.02
R1556:Clstn2	UTSW	9	97,338,558 (GRCm39)	missense	probably benign	0.41
R1703:Clstn2	UTSW	9	97,340,290 (GRCm39)	missense	possibly damaging	0.90
R1837:Clstn2	UTSW	9	97,465,593 (GRCm39)	missense	probably benign	0.00
R2911:Clstn2	UTSW	9	97,414,775 (GRCm39)	missense	probably damaging	1.00
R3434:Clstn2	UTSW	9	97,336,768 (GRCm39)	missense	probably benign	0.17
R3771:Clstn2	UTSW	9	97,464,615 (GRCm39)	missense	probably damaging	1.00
R3772:Clstn2	UTSW	9	97,464,615 (GRCm39)	missense	probably damaging	1.00
R3854:Clstn2	UTSW	9	97,345,648 (GRCm39)	nonsense	probably null
R4049:Clstn2	UTSW	9	97,339,613 (GRCm39)	missense	possibly damaging	0.59
R4334:Clstn2	UTSW	9	97,345,581 (GRCm39)	missense	probably damaging	1.00
R4705:Clstn2	UTSW	9	97,345,612 (GRCm39)	missense	possibly damaging	0.95
R4755:Clstn2	UTSW	9	97,327,726 (GRCm39)	missense	probably benign	0.01
R4884:Clstn2	UTSW	9	97,681,448 (GRCm39)	missense	probably damaging	1.00
R5017:Clstn2	UTSW	9	97,365,139 (GRCm39)	missense	probably damaging	1.00
R5076:Clstn2	UTSW	9	97,365,132 (GRCm39)	missense	probably damaging	1.00
R5122:Clstn2	UTSW	9	97,343,474 (GRCm39)	missense	probably damaging	1.00
R5155:Clstn2	UTSW	9	97,338,484 (GRCm39)	missense	probably benign	0.02
R5560:Clstn2	UTSW	9	97,351,872 (GRCm39)	missense	possibly damaging	0.95
R6009:Clstn2	UTSW	9	97,338,579 (GRCm39)	missense	probably benign	0.05
R6011:Clstn2	UTSW	9	97,338,579 (GRCm39)	missense	probably benign	0.05
R6029:Clstn2	UTSW	9	97,338,634 (GRCm39)	missense	probably benign	0.00
R6093:Clstn2	UTSW	9	97,340,263 (GRCm39)	missense	probably damaging	1.00
R6284:Clstn2	UTSW	9	97,336,727 (GRCm39)	missense	probably benign
R6676:Clstn2	UTSW	9	97,343,584 (GRCm39)	missense	probably damaging	1.00
R6902:Clstn2	UTSW	9	97,351,875 (GRCm39)	missense	probably damaging	1.00
R6946:Clstn2	UTSW	9	97,351,875 (GRCm39)	missense	probably damaging	1.00
R6966:Clstn2	UTSW	9	97,408,459 (GRCm39)	nonsense	probably null
R7329:Clstn2	UTSW	9	97,343,422 (GRCm39)	missense	probably benign	0.00
R7330:Clstn2	UTSW	9	97,343,422 (GRCm39)	missense	probably benign	0.00
R7382:Clstn2	UTSW	9	97,681,451 (GRCm39)	nonsense	probably null
R7549:Clstn2	UTSW	9	97,464,597 (GRCm39)	missense	probably benign	0.01
R7879:Clstn2	UTSW	9	97,351,817 (GRCm39)	missense	possibly damaging	0.90
R8070:Clstn2	UTSW	9	97,681,523 (GRCm39)	missense	possibly damaging	0.79
R8193:Clstn2	UTSW	9	97,465,683 (GRCm39)	missense	probably damaging	1.00
R8422:Clstn2	UTSW	9	97,340,239 (GRCm39)	missense	probably benign	0.39
R9190:Clstn2	UTSW	9	97,414,815 (GRCm39)	missense	probably damaging	1.00
R9221:Clstn2	UTSW	9	97,343,395 (GRCm39)	missense	probably benign	0.00
R9305:Clstn2	UTSW	9	97,343,537 (GRCm39)	missense	probably damaging	1.00
R9347:Clstn2	UTSW	9	97,464,654 (GRCm39)	missense	probably damaging	1.00
R9520:Clstn2	UTSW	9	97,414,763 (GRCm39)	missense	probably damaging	1.00
R9751:Clstn2	UTSW	9	97,339,703 (GRCm39)	missense	probably damaging	0.98
X0027:Clstn2	UTSW	9	97,408,452 (GRCm39)	missense	probably damaging	1.00
Z1177:Clstn2	UTSW	9	97,343,409 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACCAGTTGTATCTGAGGCC -3'
(R):5'- TTTCGGGTGCTATGGCTCAC -3'

Sequencing Primer
(F):5'- CTGAGGCCAAAAAGCTGAGTTTTCTC -3'
(R):5'- TTCGCCCACAATAGTAAAGTGAG -3'

Posted On

2019-10-07