Mutagenetix > Incidental Mutations

Incidental Mutation 'R0346:Clvs2'

34281

Institutional Source

Beutler Lab

Gene Symbol

Clvs2

Ensembl Gene

ENSMUSG00000019785

Gene Name

clavesin 2

Synonyms

Rlbp1l2, A330019N05Rik

MMRRC Submission

038553-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33512286-33624769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 33622546 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 129 (S129R)

Ref Sequence

ENSEMBL: ENSMUSP00000151805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019920] [ENSMUST00000160299] [ENSMUST00000161692]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019920
AA Change: S129R

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000019920
Gene: ENSMUSG00000019785
AA Change: S129R

Domain	Start	End	E-Value	Type
CRAL_TRIO_N	50	75	9.15e-5	SMART
SEC14	96	254	1.02e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159533

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160299
AA Change: S129R

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125100
Gene: ENSMUSG00000019785
AA Change: S129R

Domain	Start	End	E-Value	Type
CRAL_TRIO_N	50	75	9.15e-5	SMART
Pfam:CRAL_TRIO	98	219	8e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160756

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161692
AA Change: S129R

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217704

Meta Mutation Damage Score

0.1098

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,566,278	I4406L	probably damaging	Het
Abca16	T	A	7: 120,435,932	C314S	probably damaging	Het
Add3	C	T	19: 53,216,956	R46*	probably null	Het
Alas1	A	T	9: 106,243,351	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,538,741	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,445,971	R365*	probably null	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
AU021092	T	C	16: 5,216,854	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Caln1	C	A	5: 130,822,921	H184N	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,938,952	V372A	probably damaging	Het
Ccng2	T	G	5: 93,270,894	I126S	probably damaging	Het
Cep85	A	T	4: 134,132,422	N643K	probably damaging	Het
Cntn1	G	T	15: 92,232,087		probably benign	Het
Cttn	A	T	7: 144,452,539		probably benign	Het
Dedd2	T	C	7: 25,211,269	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,503,925	D263G	probably damaging	Het
Dppa4	T	A	16: 48,289,324		probably benign	Het
Ear2	A	G	14: 44,102,906	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,188,108		probably benign	Het
Etl4	G	T	2: 20,759,652		probably null	Het
Fbxo15	T	A	18: 84,960,221		probably null	Het
Gm8765	T	C	13: 50,703,310	Y995H	probably benign	Het
Gm9970	A	G	5: 31,240,838		probably benign	Het
Hap1	A	G	11: 100,356,029	S17P	probably benign	Het
Hgd	C	T	16: 37,588,774		probably benign	Het
Inpp5f	T	A	7: 128,690,668	L16Q	probably damaging	Het
Islr2	G	A	9: 58,198,343	R545*	probably null	Het
Itgav	G	T	2: 83,792,609	C675F	probably damaging	Het
Kif13a	T	A	13: 46,814,219	I403L	possibly damaging	Het
Kif14	T	A	1: 136,468,160	I68N	probably damaging	Het
Kif26a	G	T	12: 112,179,348	K1764N	probably null	Het
Lrrd1	C	A	5: 3,850,215	F173L	probably benign	Het
Mroh4	G	C	15: 74,614,292		probably benign	Het
Mrvi1	T	C	7: 110,898,976	D404G	probably damaging	Het
Msh5	A	G	17: 35,029,888	V723A	probably benign	Het
Mybph	T	G	1: 134,197,754	I279S	probably damaging	Het
Myh4	A	T	11: 67,260,326	I1936L	probably benign	Het
Myo1h	A	T	5: 114,355,209	T704S	probably benign	Het
Nav2	C	A	7: 49,604,585	T2377K	probably benign	Het
Nipbl	T	G	15: 8,360,956	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 20,024,515	L559P	probably damaging	Het
Nup210l	T	A	3: 90,189,438	V1318E	probably damaging	Het
Olfr1427	A	T	19: 12,099,439	S67T	probably damaging	Het
Olfr18	A	G	9: 20,314,411	S170P	probably benign	Het
Olfr385	A	G	11: 73,589,457	Y94H	probably damaging	Het
Olfr765	C	A	10: 129,046,473	V197F	possibly damaging	Het
P2ry13	T	C	3: 59,209,566	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,114,253	L966P	probably benign	Het
Prss35	A	G	9: 86,755,351	K58R	probably benign	Het
Ptafr	T	A	4: 132,580,079	L260*	probably null	Het
Pum1	A	T	4: 130,779,805	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf145	A	G	11: 44,555,164	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,208,491	K218N	possibly damaging	Het
Rps6	T	C	4: 86,855,981	T128A	probably benign	Het
Ryr1	G	T	7: 29,067,588		probably benign	Het
Scel	A	T	14: 103,529,984	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,858,673	D57E	probably benign	Het
Slc35d1	A	C	4: 103,190,847	L240R	probably damaging	Het
Smcr8	A	G	11: 60,779,750	I575V	probably benign	Het
Syk	G	A	13: 52,640,659	M476I	probably damaging	Het
Tbcel	A	T	9: 42,437,243		probably benign	Het
Tob2	C	A	15: 81,858,223	G65W	probably damaging	Het
Trim16	A	G	11: 62,840,694	N464D	probably benign	Het
Trim36	T	C	18: 46,199,709		probably benign	Het
Trpv4	C	A	5: 114,630,529		probably benign	Het
Tsga10	T	A	1: 37,840,519	T64S	possibly damaging	Het
Ttc26	T	C	6: 38,409,435	C364R	probably damaging	Het
Vars2	A	T	17: 35,664,864		probably benign	Het
Vmn1r72	C	A	7: 11,669,694	V276L	probably benign	Het
Vps13a	T	A	19: 16,677,969	K1898N	probably benign	Het
Vps18	A	G	2: 119,297,164	M823V	probably damaging	Het
Washc2	T	C	6: 116,220,523		probably benign	Het
Zfp763	A	T	17: 33,019,747	H141Q	probably benign	Het

Other mutations in Clvs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Clvs2	APN	10	33528463	missense	probably benign	0.03
IGL02304:Clvs2	APN	10	33528447	missense	probably benign	0.02
IGL02967:Clvs2	APN	10	33595788	missense	probably damaging	0.98
R0085:Clvs2	UTSW	10	33622546	missense	possibly damaging	0.70
R1228:Clvs2	UTSW	10	33622604	missense	probably benign	0.05
R1405:Clvs2	UTSW	10	33513260	makesense	probably null
R1405:Clvs2	UTSW	10	33513260	makesense	probably null
R2176:Clvs2	UTSW	10	33595815	missense	probably damaging	1.00
R2280:Clvs2	UTSW	10	33528500	missense	probably damaging	1.00
R3413:Clvs2	UTSW	10	33622971	start gained	probably benign
R4008:Clvs2	UTSW	10	33543462	missense	probably damaging	1.00
R4855:Clvs2	UTSW	10	33622646	missense	probably damaging	1.00
R5814:Clvs2	UTSW	10	33528507	missense	probably benign	0.01
R6265:Clvs2	UTSW	10	33528515	missense	possibly damaging	0.93
R6730:Clvs2	UTSW	10	33528521	missense	probably damaging	1.00
R7558:Clvs2	UTSW	10	33543464	missense	probably damaging	1.00
R7955:Clvs2	UTSW	10	33595812	missense	possibly damaging	0.90
R8337:Clvs2	UTSW	10	33528488	missense	possibly damaging	0.95
R8423:Clvs2	UTSW	10	33622859	missense	possibly damaging	0.58
RF003:Clvs2	UTSW	10	33622925	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTCCCAAGGGAGCCTACTCAAAGC -3'
(R):5'- CTCGCCTGGAACTCAATGAGAACC -3'

Sequencing Primer
(F):5'- CTCAAAGCTCACTATGAGTTGC -3'
(R):5'- TCATCACTAGGCCGGACATTG -3'

Posted On

2013-05-09