Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02967:Clvs2'

365675

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clvs2

Ensembl Gene

ENSMUSG00000019785

Gene Name

clavesin 2

Synonyms

Rlbp1l2, A330019N05Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL02967

Quality Score

Status

Chromosome

Chromosomal Location

33512286-33624769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33595788 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 174 (K174E)

Ref Sequence

ENSEMBL: ENSMUSP00000125100 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000019920
AA Change: K174E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019920
Gene: ENSMUSG00000019785
AA Change: K174E

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

probably damaging
Transcript: ENSMUST00000160299
AA Change: K174E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125100
Gene: ENSMUSG00000019785
AA Change: K174E

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

possibly damaging
Transcript: ENSMUST00000161692
AA Change: K174E

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,378,291	T3455A	probably damaging	Het
Abca8a	G	A	11: 110,050,936	P1169L	probably damaging	Het
Ablim3	T	A	18: 61,826,503	K272*	probably null	Het
Acin1	A	G	14: 54,642,753	V574A	possibly damaging	Het
Acot4	A	T	12: 84,043,461	I311L	probably benign	Het
Akap9	C	T	5: 3,976,164	A1273V	probably benign	Het
Ap1g2	T	A	14: 55,105,022		probably benign	Het
Apob	A	T	12: 8,015,366	K4112*	probably null	Het
Aspdh	A	G	7: 44,465,539		probably null	Het
Atf7ip	T	C	6: 136,606,727	I1252T	probably damaging	Het
Avpr1a	A	G	10: 122,449,462	T220A	possibly damaging	Het
Bdp1	A	G	13: 100,042,270	F1856S	possibly damaging	Het
Btbd11	A	G	10: 85,633,782	T856A	probably benign	Het
Cit	A	T	5: 115,945,837	N743I	probably benign	Het
Cyp4f40	A	T	17: 32,674,248	Q351L	probably damaging	Het
Dmbt1	G	T	7: 131,071,189	V550L	possibly damaging	Het
Edem1	T	G	6: 108,836,777	S178A	probably damaging	Het
Fam222b	C	T	11: 78,154,108	A165V	probably benign	Het
Fer	T	C	17: 63,896,267	V64A	possibly damaging	Het
Fggy	T	G	4: 95,926,749	F535C	possibly damaging	Het
Fkbp15	A	T	4: 62,304,390	S1091T	probably damaging	Het
Fstl5	G	A	3: 76,322,191	V100M	probably damaging	Het
Fut7	G	T	2: 25,425,143	V91L	probably damaging	Het
Gemin4	A	T	11: 76,212,241	C565S	probably damaging	Het
Gzmm	C	T	10: 79,695,063	T233I	possibly damaging	Het
Hps5	A	T	7: 46,769,380	L789Q	possibly damaging	Het
Krt32	G	A	11: 100,084,050	S357F	possibly damaging	Het
Lrig2	C	T	3: 104,494,196		probably benign	Het
Lrp8	C	A	4: 107,861,234	Q678K	probably benign	Het
Mmp27	C	A	9: 7,571,590	Q45K	probably benign	Het
Myh1	A	G	11: 67,209,070	D602G	possibly damaging	Het
Ncoa1	G	T	12: 4,295,294	H684Q	probably damaging	Het
Nol9	T	C	4: 152,041,102	V170A	possibly damaging	Het
Notch2	A	G	3: 98,146,144	D2041G	probably damaging	Het
Nrg3	G	T	14: 38,668,299		probably benign	Het
Nuak1	T	A	10: 84,440,221	H46L	probably damaging	Het
Pdzd2	G	T	15: 12,374,341	Q1903K	probably benign	Het
Pik3c2g	T	C	6: 139,967,828	V616A	probably damaging	Het
Ppp6c	A	G	2: 39,226,217	Y9H	probably damaging	Het
Prdm11	A	T	2: 93,012,889	F75Y	probably damaging	Het
Prelid1	G	A	13: 55,324,406	V132I	probably benign	Het
Prom1	A	G	5: 44,044,398	S227P	probably damaging	Het
Psmb5	G	A	14: 54,616,626	R132C	probably benign	Het
Pus10	A	G	11: 23,718,602	N360D	probably damaging	Het
Pygm	G	A	19: 6,393,838	V610M	probably damaging	Het
Setd1a	A	G	7: 127,785,177		probably benign	Het
Sfmbt1	T	A	14: 30,816,802	W793R	probably damaging	Het
Slc25a4	A	G	8: 46,209,150	L157P	probably damaging	Het
Sost	T	G	11: 101,964,258	E75A	possibly damaging	Het
Tdrd9	A	G	12: 111,992,488	S119G	possibly damaging	Het
Tepsin	A	G	11: 120,094,128	I238T	probably benign	Het
Tfr2	T	A	5: 137,582,819	L507*	probably null	Het
Tmem106a	T	C	11: 101,586,295	I110T	possibly damaging	Het
Tmem38a	A	T	8: 72,586,082	D298V	possibly damaging	Het
Tmprss12	A	T	15: 100,285,381	R201S	probably benign	Het
Ugt2b36	T	C	5: 87,090,900	T271A	possibly damaging	Het
Virma	T	G	4: 11,514,096	V650G	probably benign	Het
Vmn1r220	A	T	13: 23,183,992	I178N	probably damaging	Het
Zfp609	A	G	9: 65,697,619	S1276P	possibly damaging	Het
Zfp809	A	G	9: 22,235,102	Y29C	probably damaging	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
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
R7558:Clvs2	UTSW	10	33543464	missense	probably damaging	1.00

Posted On

2015-12-18