Incidental Mutation 'R5126:Lmbrd2'
ID 393577
Institutional Source Beutler Lab
Gene Symbol Lmbrd2
Ensembl Gene ENSMUSG00000039704
Gene Name LMBR1 domain containing 2
Synonyms 9930036E21Rik
MMRRC Submission 042714-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R5126 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 9140637-9202569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9194788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 597 (R597G)
Ref Sequence ENSEMBL: ENSMUSP00000087858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090380] [ENSMUST00000227556]
AlphaFold Q8C561
Predicted Effect possibly damaging
Transcript: ENSMUST00000090380
AA Change: R597G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
AA Change: R597G

DomainStartEndE-ValueType
Pfam:LMBR1 8 546 4.2e-192 PFAM
low complexity region 574 598 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227556
AA Change: R642G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 G A 2: 26,886,927 (GRCm39) probably null Het
Ahdc1 T A 4: 132,790,833 (GRCm39) F691L probably benign Het
Ahsa2 T A 11: 23,441,036 (GRCm39) I202F possibly damaging Het
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cep164 A G 9: 45,698,722 (GRCm39) probably null Het
Cltc A G 11: 86,603,495 (GRCm39) V781A probably damaging Het
Dchs1 A G 7: 105,402,724 (GRCm39) S3273P probably damaging Het
Dnajc16 C A 4: 141,501,820 (GRCm39) V337L probably benign Het
Fstl4 T C 11: 53,077,388 (GRCm39) V715A possibly damaging Het
Grik1 C T 16: 87,744,747 (GRCm39) G502S probably damaging Het
Ifi213 A G 1: 173,417,581 (GRCm39) V277A possibly damaging Het
Ints15 G T 5: 143,293,701 (GRCm39) P259T probably benign Het
Jph3 T C 8: 122,479,787 (GRCm39) V155A possibly damaging Het
Katnal2 T C 18: 77,105,294 (GRCm39) E51G probably benign Het
Kcna2 T A 3: 107,011,550 (GRCm39) F44I probably damaging Het
Kcna6 T C 6: 126,715,695 (GRCm39) E398G probably damaging Het
Kif15 A T 9: 122,804,823 (GRCm39) H190L probably damaging Het
Lrtm2 T A 6: 119,294,400 (GRCm39) M244L probably benign Het
Ly6c2 A C 15: 74,983,492 (GRCm39) S9A possibly damaging Het
Mbd4 T A 6: 115,825,929 (GRCm39) probably null Het
Mfsd2b A G 12: 4,916,183 (GRCm39) I269T probably benign Het
Muc6 A T 7: 141,237,564 (GRCm39) C218S probably damaging Het
Nlrc5 G T 8: 95,201,299 (GRCm39) R131L possibly damaging Het
Nlrp1b A T 11: 71,072,359 (GRCm39) C495S possibly damaging Het
Nsf C A 11: 103,773,618 (GRCm39) E299* probably null Het
Obscn T A 11: 58,967,889 (GRCm39) E336D probably damaging Het
Or14j9 G T 17: 37,874,719 (GRCm39) T161K probably benign Het
Pan3 A G 5: 147,464,008 (GRCm39) N587S probably benign Het
Pgap6 T C 17: 26,340,614 (GRCm39) I666T probably damaging Het
Plch2 T C 4: 155,084,976 (GRCm39) D321G probably damaging Het
Plscr4 G A 9: 92,370,794 (GRCm39) D254N probably damaging Het
Pnma8a A C 7: 16,695,242 (GRCm39) M366L probably benign Het
Pnpla7 G T 2: 24,870,056 (GRCm39) C12F possibly damaging Het
Ptprk G T 10: 28,451,640 (GRCm39) probably null Het
Rgs22 A G 15: 36,040,790 (GRCm39) V899A probably damaging Het
Ruvbl1 T A 6: 88,462,883 (GRCm39) C336S probably benign Het
Slc27a5 T A 7: 12,725,247 (GRCm39) H400L probably damaging Het
Slc66a1 T C 4: 139,029,843 (GRCm39) T63A probably benign Het
Slco1a4 A T 6: 141,761,308 (GRCm39) V435D possibly damaging Het
Snx14 A T 9: 88,264,152 (GRCm39) Y818N probably damaging Het
Tln2 A G 9: 67,165,817 (GRCm39) I2098T probably damaging Het
Tlr11 T C 14: 50,598,287 (GRCm39) L91P probably damaging Het
Tmem208 T A 8: 106,061,282 (GRCm39) F103I probably benign Het
Vmn2r3 C T 3: 64,166,740 (GRCm39) C797Y probably damaging Het
Vwde T A 6: 13,187,259 (GRCm39) M743L probably benign Het
Wdcp C A 12: 4,900,617 (GRCm39) R158S probably damaging Het
Zfp773 T C 7: 7,139,623 (GRCm39) T9A unknown Het
Other mutations in Lmbrd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Lmbrd2 APN 15 9,157,382 (GRCm39) missense probably damaging 1.00
IGL00864:Lmbrd2 APN 15 9,175,297 (GRCm39) missense probably damaging 1.00
IGL01554:Lmbrd2 APN 15 9,165,906 (GRCm39) missense possibly damaging 0.96
IGL02142:Lmbrd2 APN 15 9,186,772 (GRCm39) missense probably damaging 1.00
IGL02176:Lmbrd2 APN 15 9,182,661 (GRCm39) missense probably damaging 1.00
IGL02293:Lmbrd2 APN 15 9,172,276 (GRCm39) missense probably benign
IGL02692:Lmbrd2 APN 15 9,149,155 (GRCm39) missense possibly damaging 0.94
IGL03101:Lmbrd2 APN 15 9,186,695 (GRCm39) missense probably damaging 1.00
R0102:Lmbrd2 UTSW 15 9,184,039 (GRCm39) missense probably damaging 1.00
R0370:Lmbrd2 UTSW 15 9,165,939 (GRCm39) missense probably damaging 0.97
R0379:Lmbrd2 UTSW 15 9,149,566 (GRCm39) missense probably benign 0.00
R0513:Lmbrd2 UTSW 15 9,194,816 (GRCm39) missense probably damaging 1.00
R1610:Lmbrd2 UTSW 15 9,186,699 (GRCm39) missense probably benign 0.19
R1628:Lmbrd2 UTSW 15 9,182,593 (GRCm39) missense probably damaging 1.00
R1844:Lmbrd2 UTSW 15 9,177,838 (GRCm39) nonsense probably null
R2422:Lmbrd2 UTSW 15 9,194,852 (GRCm39) missense possibly damaging 0.83
R3614:Lmbrd2 UTSW 15 9,177,798 (GRCm39) missense probably damaging 1.00
R3924:Lmbrd2 UTSW 15 9,149,624 (GRCm39) missense probably benign
R4014:Lmbrd2 UTSW 15 9,151,672 (GRCm39) splice site probably benign
R4298:Lmbrd2 UTSW 15 9,165,882 (GRCm39) missense possibly damaging 0.92
R5699:Lmbrd2 UTSW 15 9,175,269 (GRCm39) missense probably benign 0.40
R5841:Lmbrd2 UTSW 15 9,182,657 (GRCm39) missense possibly damaging 0.94
R5974:Lmbrd2 UTSW 15 9,172,202 (GRCm39) missense probably benign 0.25
R5988:Lmbrd2 UTSW 15 9,182,493 (GRCm39) splice site probably null
R6179:Lmbrd2 UTSW 15 9,149,262 (GRCm39) missense probably damaging 0.99
R6666:Lmbrd2 UTSW 15 9,151,656 (GRCm39) missense probably benign 0.06
R7180:Lmbrd2 UTSW 15 9,175,283 (GRCm39) missense possibly damaging 0.90
R7269:Lmbrd2 UTSW 15 9,194,771 (GRCm39) missense probably damaging 1.00
R7341:Lmbrd2 UTSW 15 9,165,906 (GRCm39) missense possibly damaging 0.96
R8017:Lmbrd2 UTSW 15 9,172,317 (GRCm39) missense probably benign 0.00
R8066:Lmbrd2 UTSW 15 9,172,172 (GRCm39) missense probably benign 0.35
R8110:Lmbrd2 UTSW 15 9,175,279 (GRCm39) missense probably damaging 1.00
R8393:Lmbrd2 UTSW 15 9,178,437 (GRCm39) missense probably damaging 1.00
R8401:Lmbrd2 UTSW 15 9,156,294 (GRCm39) missense possibly damaging 0.85
R8922:Lmbrd2 UTSW 15 9,172,231 (GRCm39) missense probably damaging 1.00
R9009:Lmbrd2 UTSW 15 9,157,311 (GRCm39) missense possibly damaging 0.92
R9434:Lmbrd2 UTSW 15 9,157,314 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ACTACCTGGTCTGAGCTAGC -3'
(R):5'- TACAAGCTCCTTATATCAGCTCATC -3'

Sequencing Primer
(F):5'- ACTACCTGGTCTGAGCTAGCTAGATG -3'
(R):5'- AGCTCATCATTAAAATCTCAGAAGC -3'
Posted On 2016-06-15