Mutagenetix > Incidental Mutation

Incidental Mutation 'R9269:Clvs2'

702775

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: 0.095) question?

Stock #

R9269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33388282-33500680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33419422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 211 (Y211N)

Ref Sequence

ENSEMBL: ENSMUSP00000019920 (fasta)

Gene Model

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

AlphaFold

Q8BG92

Predicted Effect

probably damaging
Transcript: ENSMUST00000019920
AA Change: Y211N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019920
Gene: ENSMUSG00000019785
AA Change: Y211N

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: 98.6%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,637,865 (GRCm39)	S845P	probably benign	Het
Actn1	T	A	12: 80,219,745 (GRCm39)	N709Y	probably benign	Het
Alox5ap	A	G	5: 149,216,006 (GRCm39)	Y64C	probably damaging	Het
Anapc4	T	A	5: 53,018,620 (GRCm39)	S521T	possibly damaging	Het
Ap3b1	C	A	13: 94,540,570 (GRCm39)	P164Q	probably damaging	Het
Arhgef26	A	G	3: 62,247,920 (GRCm39)	N335D	probably damaging	Het
Arrdc2	G	A	8: 71,288,973 (GRCm39)	A354V	probably benign	Het
Atg2b	A	G	12: 105,618,359 (GRCm39)	S898P	probably damaging	Het
Atxn1	T	A	13: 45,710,680 (GRCm39)	T751S	probably benign	Het
Begain	T	A	12: 108,999,119 (GRCm39)	R551W	possibly damaging	Het
Borcs8	C	A	8: 70,594,521 (GRCm39)	D15E	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Card11	A	T	5: 140,892,516 (GRCm39)	M183K	probably damaging	Het
Cldn3	T	C	5: 135,015,579 (GRCm39)	L94P	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cop1	C	T	1: 159,116,553 (GRCm39)	P409L	probably benign	Het
Cplane1	A	C	15: 8,248,500 (GRCm39)	Q1683P	probably damaging	Het
Crhbp	C	A	13: 95,573,024 (GRCm39)	A241S	probably benign	Het
Cyfip1	C	A	7: 55,557,179 (GRCm39)	S794*	probably null	Het
Dlg5	T	A	14: 24,242,881 (GRCm39)	H172L	probably damaging	Het
Doc2a	T	A	7: 126,450,159 (GRCm39)	I199N	probably benign	Het
Dock3	T	C	9: 106,818,522 (GRCm39)	T1191A	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Eif4a3l2	C	T	6: 116,529,317 (GRCm39)	T398I	probably damaging	Het
Fcgr1	C	T	3: 96,193,154 (GRCm39)	R281H	probably benign	Het
Fndc10	T	C	4: 155,779,205 (GRCm39)	V83A	possibly damaging	Het
Galnt2	T	A	8: 125,065,202 (GRCm39)	I444K	probably benign	Het
Gcnt3	T	C	9: 69,941,290 (GRCm39)	Y426C	probably damaging	Het
Gtpbp1	C	T	15: 79,601,855 (GRCm39)	R533C	probably damaging	Het
Hid1	T	C	11: 115,252,502 (GRCm39)	E60G	probably damaging	Het
Ighv1-81	A	T	12: 115,884,161 (GRCm39)	L30Q	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ilrun	A	C	17: 28,005,049 (GRCm39)	Y169*	probably null	Het
Klf10	A	G	15: 38,298,002 (GRCm39)	L44P	probably damaging	Het
Lamc3	T	C	2: 31,813,017 (GRCm39)	V1001A	probably benign	Het
Lamc3	C	A	2: 31,818,908 (GRCm39)	S1211*	probably null	Het
Lmx1a	T	A	1: 167,658,194 (GRCm39)	H192Q	probably benign	Het
Nkx2-4	T	C	2: 146,926,184 (GRCm39)	H226R	possibly damaging	Het
Or2d2	T	C	7: 106,727,833 (GRCm39)	I256V	probably benign	Het
Or4a68	T	A	2: 89,270,276 (GRCm39)	M116L	probably damaging	Het
Or4k37	T	C	2: 111,159,297 (GRCm39)	F178L	probably damaging	Het
Or4p18	G	A	2: 88,232,586 (GRCm39)	R231C	probably benign	Het
Or5b101	T	C	19: 13,004,994 (GRCm39)	H233R	probably benign	Het
Or5b114-ps1	A	T	19: 13,353,004 (GRCm39)	N226I	unknown	Het
Or5p52	T	A	7: 107,502,527 (GRCm39)	I201N	possibly damaging	Het
Or7e175	T	C	9: 20,048,757 (GRCm39)	M115T	probably damaging	Het
Or8k1	T	C	2: 86,047,247 (GRCm39)	H269R	probably damaging	Het
Orai3	G	T	7: 127,373,194 (GRCm39)	A232S	probably benign	Het
Pak1ip1	G	A	13: 41,162,727 (GRCm39)	G177R	probably benign	Het
Pcp4l1	T	C	1: 171,001,975 (GRCm39)	R62G	possibly damaging	Het
Phox2b	T	A	5: 67,256,064 (GRCm39)	Q74L	probably benign	Het
Pi4kb	A	G	3: 94,891,797 (GRCm39)	Y159C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxna1	T	C	6: 89,306,541 (GRCm39)	R1430G	probably null	Het
Plxna4	T	C	6: 32,155,315 (GRCm39)	H1543R	probably benign	Het
Prcc	A	T	3: 87,777,038 (GRCm39)	F312Y	probably damaging	Het
Ranbp6	A	G	19: 29,787,388 (GRCm39)	L988P	probably damaging	Het
Rbm27	A	G	18: 42,460,572 (GRCm39)	T840A	probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Rmi1	C	T	13: 58,556,840 (GRCm39)	T363I	probably benign	Het
Rnpc3	A	C	3: 113,404,895 (GRCm39)	I420S	probably damaging	Het
Rsph4a	T	A	10: 33,785,394 (GRCm39)	V435E	probably benign	Het
Rwdd1	T	C	10: 33,888,095 (GRCm39)	T38A	probably damaging	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Sel1l3	T	C	5: 53,311,628 (GRCm39)	Y619C	probably damaging	Het
Sf3b3	T	C	8: 111,538,658 (GRCm39)	T1121A	probably damaging	Het
Sgk3	T	C	1: 9,942,534 (GRCm39)	V102A	probably benign	Het
Sh2b1	T	C	7: 126,068,354 (GRCm39)	T486A	probably damaging	Het
Slc22a5	C	T	11: 53,766,981 (GRCm39)	R169H	probably damaging	Het
Slc4a5	T	C	6: 83,266,223 (GRCm39)	V889A	possibly damaging	Het
Spast	C	A	17: 74,646,069 (GRCm39)	S13*	probably null	Het
Srek1	T	C	13: 103,889,654 (GRCm39)		probably null	Het
Sugp1	G	T	8: 70,509,220 (GRCm39)	E164D	probably benign	Het
Synpo2	T	C	3: 122,910,973 (GRCm39)	D224G	probably benign	Het
Tanc1	A	G	2: 59,630,432 (GRCm39)	D804G	probably damaging	Het
Tep1	C	T	14: 51,081,766 (GRCm39)	C1228Y	probably damaging	Het
Tes	T	A	6: 17,100,341 (GRCm39)	C325S	probably benign	Het
Themis	T	C	10: 28,739,390 (GRCm39)	V620A	probably benign	Het
Trim17	T	C	11: 58,862,257 (GRCm39)	S430P	probably damaging	Het
Tubgcp5	T	C	7: 55,445,693 (GRCm39)	I65T	possibly damaging	Het
Unc13b	T	C	4: 43,171,955 (GRCm39)	S928P	unknown	Het
Vat1l	C	T	8: 115,016,172 (GRCm39)	A354V	probably damaging	Het
Vmn1r170	T	A	7: 23,306,263 (GRCm39)	S222T	probably benign	Het
Vmn2r112	A	T	17: 22,820,213 (GRCm39)	M29L	probably benign	Het
Vmn2r72	T	C	7: 85,400,411 (GRCm39)	I213V	probably benign	Het
Wdr89	T	A	12: 75,679,564 (GRCm39)	Q230L	possibly damaging	Het
Zfp386	A	G	12: 116,023,283 (GRCm39)	T334A	probably benign	Het
Zfp442	T	A	2: 150,251,287 (GRCm39)	H205L	probably benign	Het
Zfyve26	A	T	12: 79,323,076 (GRCm39)	I890N	possibly damaging	Het
Zic1	T	C	9: 91,246,373 (GRCm39)	E233G	probably damaging	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
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'- AAAACAAGCACTCGTTTGTCAG -3'
(R):5'- GCAAGACTTGGTCCTTTTCTTTAGC -3'

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

Posted On

2022-03-25