Incidental Mutation 'IGL02304:Clvs2'
ID287502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clvs2
Ensembl Gene ENSMUSG00000019785
Gene Nameclavesin 2
SynonymsRlbp1l2, A330019N05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL02304
Quality Score
Status
Chromosome10
Chromosomal Location33512286-33624769 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33528447 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 258 (M258V)
Ref Sequence ENSEMBL: ENSMUSP00000019920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019920]
Predicted Effect probably benign
Transcript: ENSMUST00000019920
AA Change: M258V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000019920
Gene: ENSMUSG00000019785
AA Change: M258V

DomainStartEndE-ValueType
CRAL_TRIO_N 50 75 9.15e-5 SMART
SEC14 96 254 1.02e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159533
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik G T 18: 68,950,051 H31N unknown Het
Adamts8 A G 9: 30,956,656 N592S possibly damaging Het
Atp1a2 C A 1: 172,289,353 E232D probably benign Het
Cacnb3 A T 15: 98,642,382 D323V probably damaging Het
Cdh9 A T 15: 16,848,601 T456S probably benign Het
Cep162 A T 9: 87,227,147 probably benign Het
Col6a5 T C 9: 105,928,414 T1098A unknown Het
Foxs1 T C 2: 152,932,350 D261G probably benign Het
Gas2l2 T C 11: 83,424,238 probably benign Het
Gins4 A T 8: 23,232,609 M98K probably benign Het
Gm12355 C T 11: 98,625,538 R3H probably benign Het
Gm9637 A T 14: 19,402,545 noncoding transcript Het
Herc1 A G 9: 66,476,414 D3720G probably benign Het
Kcnh5 C T 12: 74,976,697 M532I probably benign Het
Kcnk18 T C 19: 59,234,863 Y147H probably damaging Het
Kif21a A T 15: 90,965,535 F55Y probably damaging Het
Krt15 T A 11: 100,133,677 I278F possibly damaging Het
L3mbtl4 T A 17: 68,587,185 Y395* probably null Het
Mcm3ap T A 10: 76,484,738 N843K possibly damaging Het
Mpdz T C 4: 81,310,157 K1337E possibly damaging Het
Mpdz G A 4: 81,297,559 probably benign Het
Ms4a6d T C 19: 11,603,141 probably benign Het
Myo7a G T 7: 98,077,736 R922S possibly damaging Het
Nek1 G T 8: 61,012,167 G97C probably damaging Het
Obscn A G 11: 59,076,622 Y2963H probably damaging Het
Olfr1138 C T 2: 87,737,986 V113M probably benign Het
Olfr1294 T C 2: 111,537,401 N296S probably benign Het
Olfr731 T C 14: 50,238,760 N42D probably damaging Het
Prmt3 G A 7: 49,826,737 V365I probably benign Het
Prrc2c T C 1: 162,684,136 T958A probably benign Het
Ptprb T C 10: 116,331,259 Y947H probably damaging Het
Pus10 C T 11: 23,712,275 S315L probably damaging Het
Rmi1 C A 13: 58,409,476 S513* probably null Het
Sec14l3 C T 11: 4,074,768 P239L probably damaging Het
Slc44a3 T C 3: 121,527,074 T93A possibly damaging Het
Stat1 G A 1: 52,132,544 A125T probably benign Het
Tigd2 C T 6: 59,211,698 Q517* probably null Het
Trav13d-3 C T 14: 53,033,380 Q100* probably null Het
Trim67 G A 8: 124,825,952 D598N probably damaging Het
Trio A G 15: 27,735,436 L2856P probably damaging Het
Other mutations in Clvs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Clvs2 APN 10 33528463 missense probably benign 0.03
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
R7558:Clvs2 UTSW 10 33543464 missense probably damaging 1.00
R7955:Clvs2 UTSW 10 33595812 missense possibly damaging 0.90
R8337:Clvs2 UTSW 10 33528488 missense possibly damaging 0.95
R8423:Clvs2 UTSW 10 33622859 missense possibly damaging 0.58
RF003:Clvs2 UTSW 10 33622925 missense probably damaging 0.96
Posted On2015-04-16