Incidental Mutation 'R0370:Lmbrd2'
ID 30445
Institutional Source Beutler Lab
Gene Symbol Lmbrd2
Ensembl Gene ENSMUSG00000039704
Gene Name LMBR1 domain containing 2
Synonyms 9930036E21Rik
MMRRC Submission 038576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R0370 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 9140637-9202569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9165939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 271 (I271T)
Ref Sequence ENSEMBL: ENSMUSP00000154020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090380] [ENSMUST00000227556]
AlphaFold Q8C561
Predicted Effect probably damaging
Transcript: ENSMUST00000090380
AA Change: I271T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
AA Change: I271T

DomainStartEndE-ValueType
Pfam:LMBR1 8 546 4.2e-192 PFAM
low complexity region 574 598 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226149
Predicted Effect probably damaging
Transcript: ENSMUST00000227556
AA Change: I271T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 T C 8: 124,228,293 (GRCm39) S666P probably damaging Het
B3gntl1 A T 11: 121,514,980 (GRCm39) W263R probably damaging Het
Carmil3 A G 14: 55,732,899 (GRCm39) N270S possibly damaging Het
Ctdp1 T C 18: 80,492,569 (GRCm39) E642G probably damaging Het
Cyp2b9 A T 7: 25,909,531 (GRCm39) K433M probably damaging Het
Dcc A G 18: 71,721,056 (GRCm39) V435A possibly damaging Het
Defa26 A T 8: 22,108,875 (GRCm39) M87L probably benign Het
Dnah11 T A 12: 117,958,962 (GRCm39) I2974L probably benign Het
Dnah3 T C 7: 119,685,943 (GRCm39) D131G possibly damaging Het
Dock6 A T 9: 21,725,861 (GRCm39) S1447R probably benign Het
Dtl G T 1: 191,307,462 (GRCm39) N17K probably benign Het
Grid2 A G 6: 64,322,718 (GRCm39) I573V possibly damaging Het
Hoxa9 T C 6: 52,202,684 (GRCm39) E134G possibly damaging Het
Kcnn3 A T 3: 89,574,399 (GRCm39) N637I probably damaging Het
Ktn1 T C 14: 47,901,532 (GRCm39) F97L probably benign Het
Lrp6 A C 6: 134,456,729 (GRCm39) I845S probably damaging Het
Med13l T A 5: 118,879,891 (GRCm39) N994K probably benign Het
Mrrf A T 2: 36,067,125 (GRCm39) probably null Het
Mtmr1 G A X: 70,431,837 (GRCm39) V125I probably damaging Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Or13g1 T A 7: 85,956,057 (GRCm39) N88I probably benign Het
Or51k1 T G 7: 103,661,266 (GRCm39) L214F probably damaging Het
Or8k3 A T 2: 86,059,057 (GRCm39) V86D probably damaging Het
Paxip1 C A 5: 27,965,084 (GRCm39) V659F probably damaging Het
Pclo T C 5: 14,571,104 (GRCm39) V163A probably damaging Het
Pkn3 T A 2: 29,977,184 (GRCm39) H641Q probably damaging Het
Plekhg6 G A 6: 125,347,623 (GRCm39) R444C probably damaging Het
Rfx2 T C 17: 57,106,308 (GRCm39) E175G probably benign Het
Samd9l A C 6: 3,377,264 (GRCm39) probably benign Het
Sec14l5 A T 16: 4,998,570 (GRCm39) T537S probably damaging Het
Serpinb9d A G 13: 33,379,949 (GRCm39) E96G probably damaging Het
Setd4 T C 16: 93,388,006 (GRCm39) E160G probably damaging Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Slc16a4 A G 3: 107,208,413 (GRCm39) I308V possibly damaging Het
Slco2b1 T A 7: 99,339,644 (GRCm39) N100Y probably damaging Het
Sptbn1 A T 11: 30,071,545 (GRCm39) S1475R probably benign Het
Tecta T C 9: 42,278,100 (GRCm39) D1136G probably benign Het
Tmem94 G C 11: 115,679,543 (GRCm39) R273S probably damaging Het
Tns3 A G 11: 8,395,730 (GRCm39) S1225P possibly damaging Het
Ugt2b36 A G 5: 87,239,834 (GRCm39) Y184H probably benign Het
Vmn2r59 A T 7: 41,662,150 (GRCm39) M555K probably benign 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
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
R5126:Lmbrd2 UTSW 15 9,194,788 (GRCm39) missense possibly damaging 0.91
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'- AACCACCTGAAAAGCAGAATGGCTAA -3'
(R):5'- TGTTTCACATTTCAAAGTAAAATGCTGCCAA -3'

Sequencing Primer
(F):5'- GGCTGGGCTTTACATACACAC -3'
(R):5'- GAAAATCCATCTGGAAAACCTTAACC -3'
Posted On 2013-04-24