Incidental Mutation 'R6882:Lmbr1l'
ID 536747
Institutional Source Beutler Lab
Gene Symbol Lmbr1l
Ensembl Gene ENSMUSG00000022999
Gene Name limb region 1 like
Synonyms D15Ertd735e, 1110013E13Rik
MMRRC Submission 044977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6882 (G1)
Quality Score 224.009
Status Validated
Chromosome 15
Chromosomal Location 98801798-98815944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98805467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 345 (F345L)
Ref Sequence ENSEMBL: ENSMUSP00000023736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023736]
AlphaFold Q9D1E5
Predicted Effect probably damaging
Transcript: ENSMUST00000023736
AA Change: F345L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: F345L

DomainStartEndE-ValueType
Pfam:LMBR1 28 269 2e-41 PFAM
Pfam:LMBR1 266 450 1.2e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 100% (63/63)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 A G 12: 71,003,125 (GRCm39) E238G probably benign Het
Adgrf5 T A 17: 43,761,271 (GRCm39) C989S probably damaging Het
Ank2 T G 3: 126,739,406 (GRCm39) probably benign Het
C2cd6 T C 1: 59,105,318 (GRCm39) D320G probably damaging Het
Cacnb2 T A 2: 14,829,110 (GRCm39) I15N probably benign Het
Cage1 T A 13: 38,206,534 (GRCm39) Q437L probably damaging Het
Capn15 G T 17: 26,179,153 (GRCm39) probably null Het
Cbll1 A G 12: 31,537,484 (GRCm39) Y424H probably damaging Het
Ccdc166 T C 15: 75,853,466 (GRCm39) H167R possibly damaging Het
Ccdc7a T C 8: 129,523,809 (GRCm39) probably benign Het
Cdkl4 T A 17: 80,851,175 (GRCm39) T176S probably damaging Het
Cnot1 T C 8: 96,447,054 (GRCm39) E2321G possibly damaging Het
Col6a5 G A 9: 105,817,469 (GRCm39) Q281* probably null Het
Csmd2 A G 4: 128,343,062 (GRCm39) T1485A probably benign Het
Dmxl1 A G 18: 49,976,851 (GRCm39) probably null Het
Dnah3 A G 7: 119,570,407 (GRCm39) I2271T possibly damaging Het
Elavl2 A G 4: 91,196,952 (GRCm39) I42T probably damaging Het
Epn3 C T 11: 94,382,186 (GRCm39) A568T probably benign Het
Etv3 T C 3: 87,436,577 (GRCm39) F111L probably damaging Het
Fnip1 A G 11: 54,400,724 (GRCm39) E1041G probably damaging Het
Fosl2 T C 5: 32,310,208 (GRCm39) V219A possibly damaging Het
Foxj2 T A 6: 122,805,464 (GRCm39) probably null Het
Gm8947 G A 1: 151,068,880 (GRCm39) A238T possibly damaging Het
Golgb1 C A 16: 36,734,352 (GRCm39) Q1200K probably benign Het
Igkv4-55 A G 6: 69,584,289 (GRCm39) Y108H probably damaging Het
Iglc1 G A 16: 18,880,599 (GRCm39) probably benign Het
Ints13 G T 6: 146,464,939 (GRCm39) R221S probably null Het
Ipo11 T C 13: 107,037,190 (GRCm39) probably null Het
Kcnn2 A T 18: 45,692,505 (GRCm39) H27L possibly damaging Het
Kcns3 C T 12: 11,142,049 (GRCm39) V217M probably benign Het
Klra9 A T 6: 130,155,985 (GRCm39) C257S probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lrrc18 A C 14: 32,730,646 (GRCm39) I62L probably benign Het
Mr1 A G 1: 155,008,199 (GRCm39) W259R possibly damaging Het
Myo15a G A 11: 60,414,832 (GRCm39) R3325H probably damaging Het
Nid2 A G 14: 19,839,775 (GRCm39) D788G probably damaging Het
Or2y1c A T 11: 49,361,290 (GRCm39) Y104F probably benign Het
Or5an10 C A 19: 12,275,934 (GRCm39) Q187H probably damaging Het
Or5h24 A T 16: 58,918,990 (GRCm39) C122S unknown Het
Or6d12 T C 6: 116,493,395 (GRCm39) V219A probably benign Het
Pbld1 T C 10: 62,897,241 (GRCm39) L11P probably benign Het
Pcnt T C 10: 76,263,662 (GRCm39) E434G probably benign Het
Prg4 G A 1: 150,329,246 (GRCm39) T174M probably damaging Het
Prkdc G A 16: 15,601,127 (GRCm39) probably null Het
Prkdc T A 16: 15,626,020 (GRCm39) S3349T probably benign Het
Prpf38a C A 4: 108,427,365 (GRCm39) E199D probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Rhbg T A 3: 88,152,527 (GRCm39) H339L probably damaging Het
Rnf183 A G 4: 62,346,261 (GRCm39) I179T probably benign Het
Sh3bp5l G T 11: 58,222,525 (GRCm39) A7S probably benign Het
Slc12a3 T A 8: 95,092,546 (GRCm39) I989N possibly damaging Het
Sycp3 C T 10: 88,308,791 (GRCm39) R246* probably null Het
Tmprss11b T A 5: 86,819,530 (GRCm39) probably null Het
Tmx4 T C 2: 134,485,922 (GRCm39) T2A possibly damaging Het
Tnfsf10 T C 3: 27,380,182 (GRCm39) L82S possibly damaging Het
Tnni3k T A 3: 154,663,357 (GRCm39) I332F possibly damaging Het
Ttn T A 2: 76,644,539 (GRCm39) T13072S probably benign Het
Vmn2r1 A T 3: 63,997,529 (GRCm39) Y395F possibly damaging Het
Zbbx A G 3: 74,979,019 (GRCm39) V476A probably benign Het
Zfp341 T C 2: 154,479,943 (GRCm39) C465R probably damaging Het
Zfp398 A G 6: 47,843,016 (GRCm39) D224G probably damaging Het
Zfp407 G T 18: 84,361,194 (GRCm39) probably null Het
Zfp52 T C 17: 21,775,309 (GRCm39) M1T probably null Het
Other mutations in Lmbr1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Lmbr1l APN 15 98,802,666 (GRCm39) missense probably damaging 1.00
IGL02097:Lmbr1l APN 15 98,815,772 (GRCm39) missense probably damaging 0.98
IGL02731:Lmbr1l APN 15 98,815,777 (GRCm39) missense probably damaging 0.96
finch UTSW 15 98,807,267 (GRCm39) critical splice donor site probably null
Gooseberry UTSW 15 98,810,308 (GRCm39) missense probably damaging 0.99
junco UTSW 15 98,810,408 (GRCm39) missense probably damaging 1.00
morula UTSW 15 98,802,672 (GRCm39) missense probably damaging 1.00
munia UTSW 15 98,807,150 (GRCm39) critical splice acceptor site probably null
strawberry UTSW 15 98,807,144 (GRCm39) nonsense probably null
R0310:Lmbr1l UTSW 15 98,806,654 (GRCm39) splice site probably benign
R1778:Lmbr1l UTSW 15 98,810,357 (GRCm39) missense probably damaging 1.00
R2418:Lmbr1l UTSW 15 98,805,418 (GRCm39) missense possibly damaging 0.89
R2419:Lmbr1l UTSW 15 98,805,418 (GRCm39) missense possibly damaging 0.89
R4181:Lmbr1l UTSW 15 98,806,601 (GRCm39) missense possibly damaging 0.94
R4379:Lmbr1l UTSW 15 98,807,144 (GRCm39) nonsense probably null
R4472:Lmbr1l UTSW 15 98,804,178 (GRCm39) missense probably benign 0.02
R5290:Lmbr1l UTSW 15 98,810,123 (GRCm39) missense probably damaging 1.00
R5410:Lmbr1l UTSW 15 98,807,143 (GRCm39) missense probably damaging 1.00
R5436:Lmbr1l UTSW 15 98,802,672 (GRCm39) missense probably damaging 1.00
R5667:Lmbr1l UTSW 15 98,805,489 (GRCm39) missense possibly damaging 0.88
R5671:Lmbr1l UTSW 15 98,805,489 (GRCm39) missense possibly damaging 0.88
R5918:Lmbr1l UTSW 15 98,810,308 (GRCm39) missense probably damaging 0.99
R6735:Lmbr1l UTSW 15 98,807,121 (GRCm39) missense probably damaging 1.00
R7131:Lmbr1l UTSW 15 98,804,204 (GRCm39) missense probably benign 0.05
R7136:Lmbr1l UTSW 15 98,809,372 (GRCm39) splice site probably null
R7169:Lmbr1l UTSW 15 98,807,075 (GRCm39) critical splice donor site probably benign
R7169:Lmbr1l UTSW 15 98,807,039 (GRCm39) frame shift probably null
R7336:Lmbr1l UTSW 15 98,811,468 (GRCm39) missense possibly damaging 0.94
R7541:Lmbr1l UTSW 15 98,807,267 (GRCm39) critical splice donor site probably null
R7603:Lmbr1l UTSW 15 98,806,572 (GRCm39) nonsense probably null
R7974:Lmbr1l UTSW 15 98,809,500 (GRCm39) missense probably benign 0.03
R8354:Lmbr1l UTSW 15 98,810,357 (GRCm39) missense probably damaging 1.00
R8454:Lmbr1l UTSW 15 98,810,357 (GRCm39) missense probably damaging 1.00
R8504:Lmbr1l UTSW 15 98,810,065 (GRCm39) missense probably damaging 0.97
R8933:Lmbr1l UTSW 15 98,807,150 (GRCm39) critical splice acceptor site probably null
R8974:Lmbr1l UTSW 15 98,810,408 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGTCTGTACCTAACCGACTG -3'
(R):5'- GTACTGCAGCAGATTTGGGG -3'

Sequencing Primer
(F):5'- TGTACCTAACCGACTGAGTTATC -3'
(R):5'- AGAAGGCTGGATGGTCC -3'
Posted On 2018-10-18