Incidental Mutation 'R6509:Lbhd2'
ID 519870
Institutional Source Beutler Lab
Gene Symbol Lbhd2
Ensembl Gene ENSMUSG00000087075
Gene Name LBH domain containing 2
Synonyms A230065H16Rik, LOC380787, Lbh2
MMRRC Submission 044422-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R6509 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 111373243-111378524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111376747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 65 (R65G)
Ref Sequence ENSEMBL: ENSMUSP00000128648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000150384]
AlphaFold G3UW55
Predicted Effect possibly damaging
Transcript: ENSMUST00000150384
AA Change: R65G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128648
Gene: ENSMUSG00000087075
AA Change: R65G

DomainStartEndE-ValueType
Pfam:Lbh 25 75 5.9e-14 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik G A 5: 109,885,250 (GRCm39) R203* probably null Het
Ccnc A G 4: 21,740,642 (GRCm39) N133D probably benign Het
Cfap299 C T 5: 98,477,256 (GRCm39) T15I probably benign Het
Lrrc37a A G 11: 103,395,240 (GRCm39) S62P probably benign Het
Map3k1 T A 13: 111,890,363 (GRCm39) M1279L possibly damaging Het
Ncapg2 G A 12: 116,391,376 (GRCm39) R475Q probably damaging Het
Nlrp5 A T 7: 23,117,341 (GRCm39) N355I probably damaging Het
Or7g29 A G 9: 19,286,439 (GRCm39) V246A probably benign Het
Pdzd8 A G 19: 59,333,298 (GRCm39) F241S probably benign Het
Rgl3 A G 9: 21,883,204 (GRCm39) S705P probably benign Het
Rsbn1 A G 3: 103,867,348 (GRCm39) Y563C probably damaging Het
Septin9 A G 11: 117,181,253 (GRCm39) I18V probably benign Het
Sycp2 G A 2: 178,037,687 (GRCm39) P153S probably damaging Het
Tbc1d4 C A 14: 101,845,754 (GRCm39) R48L possibly damaging Het
Vmn1r195 G A 13: 22,463,279 (GRCm39) G250R probably benign Het
Vmn2r66 G T 7: 84,656,054 (GRCm39) P321T probably benign Het
Other mutations in Lbhd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0265:Lbhd2 UTSW 12 111,376,676 (GRCm39) missense probably damaging 0.99
R2386:Lbhd2 UTSW 12 111,376,741 (GRCm39) missense possibly damaging 0.63
R6524:Lbhd2 UTSW 12 111,376,724 (GRCm39) missense probably damaging 0.99
R7282:Lbhd2 UTSW 12 111,376,724 (GRCm39) missense probably damaging 0.99
R8483:Lbhd2 UTSW 12 111,378,190 (GRCm39) missense probably damaging 0.99
R9072:Lbhd2 UTSW 12 111,375,040 (GRCm39) missense probably damaging 1.00
R9756:Lbhd2 UTSW 12 111,376,774 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGCCTTCCTAGTAGGACAG -3'
(R):5'- CACAGGTGTGCATTAAGAGGAC -3'

Sequencing Primer
(F):5'- AGAGCCAGCAGTCCATGG -3'
(R):5'- TGTGCATTAAGAGGACAGGTAC -3'
Posted On 2018-06-06