Mutagenetix > Incidental Mutation

Incidental Mutation 'R7558:Clvs2'

584891

Institutional Source

Beutler Lab

Gene Symbol

Clvs2

Ensembl Gene

ENSMUSG00000019785

Gene Name

clavesin 2

Synonyms

Rlbp1l2, A330019N05Rik

MMRRC Submission

045625-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R7558 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33388282-33500680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33419460 bp (GRCm39)

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]

AlphaFold

Q8BG92

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

Meta Mutation Damage Score

0.8567

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: 23,466,285 (GRCm39)		probably null	Het
Adgrg6	A	T	10: 14,307,351 (GRCm39)	M817K	probably damaging	Het
Adh6b	T	A	3: 138,058,297 (GRCm39)	D53E	probably benign	Het
Ap3d1	A	G	10: 80,558,755 (GRCm39)	V283A	possibly damaging	Het
Arhgap21	A	G	2: 20,860,421 (GRCm39)	Y1329H	probably damaging	Het
B3gnt9	T	C	8: 105,981,304 (GRCm39)	Y28C	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Chrd	T	A	16: 20,557,304 (GRCm39)	V641E	probably damaging	Het
Cplane1	C	T	15: 8,254,851 (GRCm39)	R13C	unknown	Het
Dbndd2	T	C	2: 164,332,136 (GRCm39)	S120P	probably benign	Het
Dsg2	G	A	18: 20,727,291 (GRCm39)	V613I	probably benign	Het
Dsp	A	G	13: 38,352,742 (GRCm39)	M207V	probably benign	Het
Fignl2	T	C	15: 100,952,264 (GRCm39)	E6G	probably damaging	Het
Fmod	A	G	1: 133,968,731 (GRCm39)	Y257C	probably benign	Het
Foxk2	T	C	11: 121,178,884 (GRCm39)	S239P	probably benign	Het
Fstl5	C	T	3: 76,337,092 (GRCm39)	T217I	possibly damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm45140	G	A	6: 87,798,511 (GRCm39)	S34F		Het
H2-Q6	A	G	17: 35,644,595 (GRCm39)	E128G	probably benign	Het
Hmmr	A	G	11: 40,624,156 (GRCm39)	F11L	probably damaging	Het
Igfbpl1	G	T	4: 45,813,497 (GRCm39)	N239K	probably damaging	Het
Itpr2	G	T	6: 146,292,363 (GRCm39)	D443E	probably damaging	Het
Kcnt2	A	T	1: 140,450,928 (GRCm39)	I736F	probably damaging	Het
Kctd11	A	T	11: 69,770,416 (GRCm39)	H207Q	probably benign	Het
Kif16b	A	T	2: 142,600,746 (GRCm39)	D462E	probably damaging	Het
Kif5a	G	A	10: 127,083,948 (GRCm39)	T81I	probably damaging	Het
Lemd2	C	A	17: 27,423,137 (GRCm39)	A86S	probably benign	Het
Lrp1b	T	C	2: 41,231,948 (GRCm39)	D1174G		Het
Lrrc8b	G	T	5: 105,629,577 (GRCm39)	W641L	probably damaging	Het
Malt1	T	C	18: 65,595,905 (GRCm39)	C438R	probably damaging	Het
Marchf8	T	C	6: 116,380,526 (GRCm39)	F126L	possibly damaging	Het
Nalcn	C	A	14: 123,723,797 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,247,088 (GRCm39)	T679S	probably benign	Het
Or52n4b	C	G	7: 108,143,928 (GRCm39)	Y65*	probably null	Het
Or5b3	T	A	19: 13,388,355 (GRCm39)	C141S	probably damaging	Het
Otog	C	A	7: 45,952,584 (GRCm39)	P419Q	probably damaging	Het
Pabpc4	T	G	4: 123,188,413 (GRCm39)	S341A	possibly damaging	Het
Pikfyve	T	A	1: 65,311,782 (GRCm39)	H2006Q	probably benign	Het
Ppp2r5e	A	T	12: 75,511,766 (GRCm39)	V319D	probably damaging	Het
Ptk2b	T	C	14: 66,391,628 (GRCm39)	S969G	possibly damaging	Het
Rasal2	G	A	1: 157,003,406 (GRCm39)	R436C	probably damaging	Het
Rpap1	A	T	2: 119,601,735 (GRCm39)	F742I	probably benign	Het
Ryr2	G	A	13: 11,814,711 (GRCm39)	T687M	probably damaging	Het
Sec16a	A	T	2: 26,329,746 (GRCm39)	F7L		Het
Slc14a2	A	G	18: 78,235,334 (GRCm39)	I143T	probably benign	Het
Slc22a26	T	A	19: 7,762,651 (GRCm39)	M430L	possibly damaging	Het
Smarcc1	C	A	9: 109,976,184 (GRCm39)	T157K	probably damaging	Het
Tmem87a	A	G	2: 120,204,991 (GRCm39)	I375T	probably benign	Het
Tmprss15	T	C	16: 78,800,302 (GRCm39)	I609V	possibly damaging	Het
Tnk2	C	A	16: 32,498,903 (GRCm39)	Q739K	probably benign	Het
Trio	T	A	15: 27,831,480 (GRCm39)	I1340F	possibly damaging	Het
Trpm6	T	C	19: 18,756,029 (GRCm39)	F91L	probably damaging	Het
Vax1	T	C	19: 59,158,416 (GRCm39)	T16A	unknown	Het
Vps13d	T	G	4: 144,881,150 (GRCm39)	H1481P		Het
Zbtb7a	A	G	10: 80,984,269 (GRCm39)	*570W	probably null	Het

Other mutations in Clvs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Clvs2	APN	10	33,404,459 (GRCm39)	missense	probably benign	0.03
IGL02304:Clvs2	APN	10	33,404,443 (GRCm39)	missense	probably benign	0.02
IGL02967:Clvs2	APN	10	33,471,784 (GRCm39)	missense	probably damaging	0.98
R0085:Clvs2	UTSW	10	33,498,542 (GRCm39)	missense	possibly damaging	0.70
R0346:Clvs2	UTSW	10	33,498,542 (GRCm39)	missense	possibly damaging	0.70
R1228:Clvs2	UTSW	10	33,498,600 (GRCm39)	missense	probably benign	0.05
R1405:Clvs2	UTSW	10	33,389,256 (GRCm39)	makesense	probably null
R1405:Clvs2	UTSW	10	33,389,256 (GRCm39)	makesense	probably null
R2176:Clvs2	UTSW	10	33,471,811 (GRCm39)	missense	probably damaging	1.00
R2280:Clvs2	UTSW	10	33,404,496 (GRCm39)	missense	probably damaging	1.00
R3413:Clvs2	UTSW	10	33,498,967 (GRCm39)	start gained	probably benign
R4008:Clvs2	UTSW	10	33,419,458 (GRCm39)	missense	probably damaging	1.00
R4855:Clvs2	UTSW	10	33,498,642 (GRCm39)	missense	probably damaging	1.00
R5814:Clvs2	UTSW	10	33,404,503 (GRCm39)	missense	probably benign	0.01
R6265:Clvs2	UTSW	10	33,404,511 (GRCm39)	missense	possibly damaging	0.93
R6730:Clvs2	UTSW	10	33,404,517 (GRCm39)	missense	probably damaging	1.00
R7955:Clvs2	UTSW	10	33,471,808 (GRCm39)	missense	possibly damaging	0.90
R8337:Clvs2	UTSW	10	33,404,484 (GRCm39)	missense	possibly damaging	0.95
R8423:Clvs2	UTSW	10	33,498,855 (GRCm39)	missense	possibly damaging	0.58
R8855:Clvs2	UTSW	10	33,404,400 (GRCm39)	missense	probably benign	0.21
R8963:Clvs2	UTSW	10	33,498,677 (GRCm39)	missense	probably benign	0.22
R9090:Clvs2	UTSW	10	33,389,301 (GRCm39)	missense	possibly damaging	0.62
R9121:Clvs2	UTSW	10	33,389,331 (GRCm39)	missense	possibly damaging	0.80
R9269:Clvs2	UTSW	10	33,419,422 (GRCm39)	missense	probably damaging	0.99
R9271:Clvs2	UTSW	10	33,389,301 (GRCm39)	missense	possibly damaging	0.62
R9373:Clvs2	UTSW	10	33,404,382 (GRCm39)	missense	probably benign	0.03
R9488:Clvs2	UTSW	10	33,389,301 (GRCm39)	missense	possibly damaging	0.62
R9710:Clvs2	UTSW	10	33,389,307 (GRCm39)	missense	probably benign	0.02
RF003:Clvs2	UTSW	10	33,498,921 (GRCm39)	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