Mutagenetix > Incidental Mutations

Incidental Mutation 'R7558:Clvs2'

584891

Institutional Source

Beutler Lab

Gene Symbol

Clvs2

Ensembl Gene

ENSMUSG00000019785

Gene Name

clavesin 2

Synonyms

Rlbp1l2, A330019N05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R7558 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33512286-33624769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33543464 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 198 (I198N)

Ref Sequence

ENSEMBL: ENSMUSP00000019920 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000019920
AA Change: I198N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019920
Gene: ENSMUSG00000019785
AA Change: I198N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	G	T	11: 23,516,285		probably null	Het
2410089E03Rik	C	T	15: 8,225,367	R13C	unknown	Het
Adgrg6	A	T	10: 14,431,607	M817K	probably damaging	Het
Adh6b	T	A	3: 138,352,536	D53E	probably benign	Het
Ap3d1	A	G	10: 80,722,921	V283A	possibly damaging	Het
Arhgap21	A	G	2: 20,855,610	Y1329H	probably damaging	Het
B3gnt9	T	C	8: 105,254,672	Y28C	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318		probably benign	Het
Chrd	T	A	16: 20,738,554	V641E	probably damaging	Het
Dbndd2	T	C	2: 164,490,216	S120P	probably benign	Het
Dsg2	G	A	18: 20,594,234	V613I	probably benign	Het
Dsp	A	G	13: 38,168,766	M207V	probably benign	Het
Fignl2	T	C	15: 101,054,383	E6G	probably damaging	Het
Fmod	A	G	1: 134,040,993	Y257C	probably benign	Het
Foxk2	T	C	11: 121,288,058	S239P	probably benign	Het
Fstl5	C	T	3: 76,429,785	T217I	possibly damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gm45140	G	A	6: 87,821,529	S34F		Het
H2-Q6	A	G	17: 35,425,619	E128G	probably benign	Het
Hmmr	A	G	11: 40,733,329	F11L	probably damaging	Het
Igfbpl1	G	T	4: 45,813,497	N239K	probably damaging	Het
Itpr2	G	T	6: 146,390,865	D443E	probably damaging	Het
Kcnt2	A	T	1: 140,523,190	I736F	probably damaging	Het
Kctd11	A	T	11: 69,879,590	H207Q	probably benign	Het
Kif16b	A	T	2: 142,758,826	D462E	probably damaging	Het
Kif5a	G	A	10: 127,248,079	T81I	probably damaging	Het
Lemd2	C	A	17: 27,204,163	A86S	probably benign	Het
Lrp1b	T	C	2: 41,341,936	D1174G		Het
Lrrc8b	G	T	5: 105,481,711	W641L	probably damaging	Het
Malt1	T	C	18: 65,462,834	C438R	probably damaging	Het
March8	T	C	6: 116,403,565	F126L	possibly damaging	Het
Nalcn	C	A	14: 123,486,385		probably null	Het
Nyap2	A	T	1: 81,269,373	T679S	probably benign	Het
Olfr1469	T	A	19: 13,410,991	C141S	probably damaging	Het
Olfr503	C	G	7: 108,544,721	Y65*	probably null	Het
Otog	C	A	7: 46,303,160	P419Q	probably damaging	Het
Pabpc4	T	G	4: 123,294,620	S341A	possibly damaging	Het
Pikfyve	T	A	1: 65,272,623	H2006Q	probably benign	Het
Ppp2r5e	A	T	12: 75,464,992	V319D	probably damaging	Het
Ptk2b	T	C	14: 66,154,179	S969G	possibly damaging	Het
Rasal2	G	A	1: 157,175,836	R436C	probably damaging	Het
Rpap1	A	T	2: 119,771,254	F742I	probably benign	Het
Ryr2	G	A	13: 11,799,825	T687M	probably damaging	Het
Sec16a	A	T	2: 26,439,734	F7L		Het
Slc14a2	A	G	18: 78,192,119	I143T	probably benign	Het
Slc22a26	T	A	19: 7,785,286	M430L	possibly damaging	Het
Smarcc1	C	A	9: 110,147,116	T157K	probably damaging	Het
Tmem87a	A	G	2: 120,374,510	I375T	probably benign	Het
Tmprss15	T	C	16: 79,003,414	I609V	possibly damaging	Het
Tnk2	C	A	16: 32,680,085	Q739K	probably benign	Het
Trio	T	A	15: 27,831,394	I1340F	possibly damaging	Het
Trpm6	T	C	19: 18,778,665	F91L	probably damaging	Het
Vax1	T	C	19: 59,169,984	T16A	unknown	Het
Vps13d	T	G	4: 145,154,580	H1481P		Het
Zbtb7a	A	G	10: 81,148,435	*570W	probably null	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
R0346: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
RF003:Clvs2	UTSW	10	33622925	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAACAAGCACTCGTTTGTCAG -3'
(R):5'- AATGTCTGATGAGAGTCTTACGG -3'

Sequencing Primer
(F):5'- ACACTCACATTTCATTATTTGGTGAG -3'
(R):5'- TACGGTGGCAAGACTTGGTCC -3'

Posted On

2019-10-17