Incidental Mutation 'R1405:Clvs2'
ID 188700
Institutional Source Beutler Lab
Gene Symbol Clvs2
Ensembl Gene ENSMUSG00000019785
Gene Name clavesin 2
Synonyms Rlbp1l2, A330019N05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R1405 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 33388282-33500680 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) C to A at 33389256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Leucine at position 328 (*328L)
Ref Sequence ENSEMBL: ENSMUSP00000019920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019920]
AlphaFold Q8BG92
Predicted Effect probably null
Transcript: ENSMUST00000019920
AA Change: *328L
SMART Domains Protein: ENSMUSP00000019920
Gene: ENSMUSG00000019785
AA Change: *328L

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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,059,253 (GRCm39) probably benign Het
AC163020.1 A G 7: 46,959,305 (GRCm39) S229P possibly damaging Het
Arap1 G A 7: 101,047,643 (GRCm39) probably null Het
Asb8 G A 15: 98,039,248 (GRCm39) H51Y possibly damaging Het
Capn10 T G 1: 92,872,744 (GRCm39) V490G probably benign Het
Ccdc138 T A 10: 58,380,939 (GRCm39) probably benign Het
Ccdc146 G A 5: 21,604,730 (GRCm39) S36L probably benign Het
Celsr1 C T 15: 85,789,635 (GRCm39) probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
D6Wsu163e G A 6: 126,951,446 (GRCm39) probably benign Het
Dstn A G 2: 143,780,356 (GRCm39) K19E probably damaging Het
Ehmt2 T A 17: 35,125,553 (GRCm39) H134Q probably benign Het
Faah G A 4: 115,858,345 (GRCm39) P411S probably damaging Het
Fn1 A G 1: 71,681,237 (GRCm39) F364L probably damaging Het
Gm5828 T C 1: 16,839,768 (GRCm39) noncoding transcript Het
Gmnc A T 16: 26,779,196 (GRCm39) N270K possibly damaging Het
Grip2 A T 6: 91,765,133 (GRCm39) probably null Het
Hmg20a A T 9: 56,384,587 (GRCm39) Q119L possibly damaging Het
Ipo7 T C 7: 109,629,048 (GRCm39) I106T probably benign Het
Ipo7 C T 7: 109,638,456 (GRCm39) P241L probably damaging Het
Katnb1 T C 8: 95,824,801 (GRCm39) Y574H probably damaging Het
Larp6 A C 9: 60,644,849 (GRCm39) M330L probably benign Het
Lrrc8e T C 8: 4,281,754 (GRCm39) Y30H probably damaging Het
Nav3 A T 10: 109,606,194 (GRCm39) probably benign Het
Nop56 T C 2: 130,119,868 (GRCm39) V420A probably benign Het
Nrg1 T C 8: 32,407,855 (GRCm39) D126G probably benign Het
Prdm1 T A 10: 44,315,961 (GRCm39) N725I probably damaging Het
Prl3a1 A G 13: 27,459,051 (GRCm39) probably null Het
Psmd2 T C 16: 20,471,034 (GRCm39) L59P possibly damaging Het
Ptgdr2 T C 19: 10,918,395 (GRCm39) V304A probably benign Het
Ptp4a2 T A 4: 129,738,851 (GRCm39) probably benign Het
Rasa3 A G 8: 13,638,027 (GRCm39) V339A possibly damaging Het
Sec24c G A 14: 20,742,593 (GRCm39) probably null Het
Serpinb9e A G 13: 33,444,009 (GRCm39) D343G probably benign Het
Sptbn5 A T 2: 119,881,097 (GRCm39) noncoding transcript Het
Stab1 A C 14: 30,870,958 (GRCm39) V1297G probably benign Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tafa5 C T 15: 87,565,678 (GRCm39) probably benign Het
Tmprss2 G A 16: 97,398,005 (GRCm39) T57I probably benign Het
Tnrc6a A G 7: 122,770,301 (GRCm39) D697G probably damaging Het
Vwa5b2 T A 16: 20,423,066 (GRCm39) D1021E probably benign Het
Wdr46 C A 17: 34,168,057 (GRCm39) P543Q probably damaging Het
Zfp1005 T A 2: 150,109,620 (GRCm39) Y103* probably null Het
Zfp287 T A 11: 62,619,137 (GRCm39) D119V probably damaging Het
Zxdc A G 6: 90,361,225 (GRCm39) S737G possibly damaging Het
Other mutations in Clvs2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCAAATGTGAAAGCCAGATGTCGTG -3'
(R):5'- GAGGCCAGAAGGGATTGTCTGTTC -3'

Sequencing Primer
(F):5'- CGTGTGCATTATGCTACATGAAC -3'
(R):5'- gagagagagagagagagagagag -3'
Posted On 2014-05-09