Mutagenetix > Incidental Mutation

Incidental Mutation 'R9488:Clvs2'

716758

Institutional Source

Beutler Lab

Gene Symbol

Clvs2

Ensembl Gene

ENSMUSG00000019785

Gene Name

clavesin 2

Synonyms

Rlbp1l2, A330019N05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R9488 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33388282-33500680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33389301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 313 (D313V)

Ref Sequence

ENSEMBL: ENSMUSP00000019920 (fasta)

Gene Model

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

AlphaFold

Q8BG92

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019920
AA Change: D313V

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000019920
Gene: ENSMUSG00000019785
AA Change: D313V

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,643,212 (GRCm39)	I294L	probably benign	Het
Ankrd35	A	T	3: 96,589,343 (GRCm39)	K187N	probably damaging	Het
Arhgap40	C	T	2: 158,391,571 (GRCm39)	T631M	possibly damaging	Het
Arpin	T	C	7: 79,584,979 (GRCm39)	Y5C	probably damaging	Het
B020011L13Rik	A	G	1: 117,728,724 (GRCm39)	Y77C		Het
Cdk17	A	G	10: 93,044,066 (GRCm39)	K2E	probably damaging	Het
Cdk18	A	G	1: 132,049,260 (GRCm39)	F86L	probably benign	Het
Cfap418	A	G	4: 10,893,271 (GRCm39)	D130G	probably damaging	Het
Clca4a	T	C	3: 144,659,532 (GRCm39)	T775A	probably damaging	Het
Col6a5	T	C	9: 105,741,788 (GRCm39)	Y2377C	probably damaging	Het
Drd2	T	C	9: 49,311,094 (GRCm39)	V115A	probably damaging	Het
Dsp	A	G	13: 38,377,218 (GRCm39)	R1668G	probably benign	Het
Eif2d	T	A	1: 131,082,962 (GRCm39)	V102E	probably damaging	Het
Fmo4	A	G	1: 162,631,337 (GRCm39)	V210A	probably damaging	Het
Galntl5	A	G	5: 25,415,437 (GRCm39)	R323G	probably damaging	Het
Git2	T	C	5: 114,904,533 (GRCm39)	T129A	probably benign	Het
Gm572	A	G	4: 148,752,913 (GRCm39)	H264R	possibly damaging	Het
Hnrnpll	T	C	17: 80,369,385 (GRCm39)	T13A	unknown	Het
Ighv7-4	T	C	12: 114,186,619 (GRCm39)	Y51C	probably damaging	Het
Irag2	G	A	6: 145,113,753 (GRCm39)	R307Q	probably damaging	Het
Jam2	A	G	16: 84,619,676 (GRCm39)	D289G	probably damaging	Het
Krt27	A	G	11: 99,239,535 (GRCm39)		probably null	Het
Lama5	T	C	2: 179,823,234 (GRCm39)	N2704S	possibly damaging	Het
Lhx8	A	T	3: 154,033,764 (GRCm39)	S70T	possibly damaging	Het
Lmo7	C	A	14: 102,122,783 (GRCm39)	T324N	possibly damaging	Het
Man2a1	A	G	17: 65,040,734 (GRCm39)	T907A	possibly damaging	Het
Map3k4	C	T	17: 12,489,860 (GRCm39)	A524T	probably damaging	Het
Mga	C	T	2: 119,795,304 (GRCm39)	A2996V	possibly damaging	Het
Mybpc1	A	T	10: 88,379,624 (GRCm39)	M625K	possibly damaging	Het
Ncald	T	A	15: 37,372,369 (GRCm39)	N159Y	probably damaging	Het
Nfasc	T	C	1: 132,527,866 (GRCm39)	T832A	possibly damaging	Het
P2rx5	T	A	11: 73,056,427 (GRCm39)	I117N		Het
Pcdhb3	C	A	18: 37,435,416 (GRCm39)	R461S	possibly damaging	Het
Polr1b	T	C	2: 128,967,417 (GRCm39)	S937P	probably damaging	Het
Prep	C	A	10: 44,996,807 (GRCm39)	Q362K		Het
Prg4	T	C	1: 150,327,024 (GRCm39)	M342V	probably benign	Het
Prr14	A	T	7: 127,073,687 (GRCm39)	T184S	possibly damaging	Het
Prss58	A	G	6: 40,874,382 (GRCm39)	I98T	probably benign	Het
Pum3	T	C	19: 27,394,188 (GRCm39)	T361A	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,129 (GRCm39)		probably benign	Het
Sema4c	A	G	1: 36,591,067 (GRCm39)	V424A	probably benign	Het
Sema6a	A	T	18: 47,437,216 (GRCm39)	I58N	probably damaging	Het
Slc13a3	T	A	2: 165,250,851 (GRCm39)	Y506F	probably damaging	Het
Slc15a2	A	G	16: 36,579,651 (GRCm39)	V365A	probably benign	Het
Slc39a5	G	A	10: 128,233,628 (GRCm39)	L290F	probably damaging	Het
Spata31f1a	A	G	4: 42,850,560 (GRCm39)	V532A	probably benign	Het
Taf6l	T	C	19: 8,759,436 (GRCm39)	T161A	probably benign	Het
Tbl2	T	A	5: 135,187,471 (GRCm39)	C243S	probably benign	Het
Tet2	A	T	3: 133,193,103 (GRCm39)	S444T	probably benign	Het
Thoc1	C	T	18: 9,992,168 (GRCm39)	L499F	probably damaging	Het
Tnc	A	G	4: 63,913,942 (GRCm39)	V1290A	probably damaging	Het
Tnpo1	T	C	13: 98,990,003 (GRCm39)	D716G	probably damaging	Het
Tpp2	A	T	1: 44,041,272 (GRCm39)	K1236N	probably benign	Het
Tshr	T	C	12: 91,504,589 (GRCm39)	V509A	probably damaging	Het
U2surp	T	C	9: 95,356,535 (GRCm39)	T775A		Het
Ubap2l	T	C	3: 89,928,656 (GRCm39)	T486A	probably benign	Het
Usp28	C	A	9: 48,935,288 (GRCm39)	P457T	probably damaging	Het
Usp44	A	G	10: 93,682,851 (GRCm39)	I387V	possibly damaging	Het
Vmn1r225	A	G	17: 20,722,793 (GRCm39)	D78G	probably damaging	Het
Vps13b	T	C	15: 35,447,880 (GRCm39)	M537T	possibly damaging	Het
Wdr6	G	A	9: 108,453,182 (GRCm39)	R234C	probably damaging	Het
Zfp1005	G	A	2: 150,110,477 (GRCm39)	G389D	unknown	Het
Zfp949	C	A	9: 88,452,182 (GRCm39)	T584N	probably benign	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
R7558:Clvs2	UTSW	10	33,419,460 (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
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'- CACCCATGGTTTAGGCAAATG -3'
(R):5'- ATCTCATGATGCAGGGGAAG -3'

Sequencing Primer
(F):5'- AAGCCAGATGTCGTGTGC -3'
(R):5'- TCTCATGATGCAGGGGAAGAGAATTC -3'

Posted On

2022-07-18