Incidental Mutation 'R6393:Lmbr1'
ID 515864
Institutional Source Beutler Lab
Gene Symbol Lmbr1
Ensembl Gene ENSMUSG00000010721
Gene Name limb region 1
Synonyms 1110048D14Rik, C79130
MMRRC Submission 044542-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6393 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 29434800-29583414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29459292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 246 (L246P)
Ref Sequence ENSEMBL: ENSMUSP00000143316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055195] [ENSMUST00000179191] [ENSMUST00000196321] [ENSMUST00000198105] [ENSMUST00000200564]
AlphaFold Q9JIT0
Predicted Effect probably damaging
Transcript: ENSMUST00000055195
AA Change: L369P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058405
Gene: ENSMUSG00000010721
AA Change: L369P

DomainStartEndE-ValueType
Pfam:LMBR1 26 281 3.5e-46 PFAM
Pfam:LMBR1 239 445 1.7e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179191
AA Change: L341P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136160
Gene: ENSMUSG00000010721
AA Change: L341P

DomainStartEndE-ValueType
Pfam:LMBR1 23 108 6e-31 PFAM
Pfam:LMBR1 106 418 5.3e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196321
AA Change: L246P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143348
Gene: ENSMUSG00000010721
AA Change: L246P

DomainStartEndE-ValueType
Pfam:LMBR1 1 323 4e-106 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198105
AA Change: L342P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142755
Gene: ENSMUSG00000010721
AA Change: L342P

DomainStartEndE-ValueType
Pfam:LMBR1 23 107 5.4e-30 PFAM
Pfam:LMBR1 106 419 3.4e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198367
Predicted Effect probably benign
Transcript: ENSMUST00000200149
Predicted Effect probably damaging
Transcript: ENSMUST00000200564
AA Change: L246P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143316
Gene: ENSMUSG00000010721
AA Change: L246P

DomainStartEndE-ValueType
Pfam:LMBR1 1 310 8.6e-92 PFAM
Meta Mutation Damage Score 0.8264 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.8%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show minor coalitions of distal wrist bones and a low incidence of limb defects, including oligodactyly, brachyphalangia, and soft tissue or bony syndactyly. Homozygotes for another null allele exhibit normal morphology,clinical chemistry, hematology and behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,856,690 (GRCm39) Q14R possibly damaging Het
Adamts12 A G 15: 11,255,721 (GRCm39) D430G probably damaging Het
Agxt2 T C 15: 10,393,894 (GRCm39) probably null Het
Akirin1 T G 4: 123,637,324 (GRCm39) Q87P possibly damaging Het
Ank2 G A 3: 126,723,406 (GRCm39) R974C probably damaging Het
Arhgap23 A G 11: 97,354,498 (GRCm39) I804V probably damaging Het
Arhgef28 A T 13: 98,130,527 (GRCm39) L437Q possibly damaging Het
Atp8a2 G T 14: 60,011,204 (GRCm39) Y967* probably null Het
Calcr A G 6: 3,708,586 (GRCm39) L200S probably damaging Het
Ccdc80 T A 16: 44,916,828 (GRCm39) V528D possibly damaging Het
Chd6 A G 2: 160,821,407 (GRCm39) Y1296H probably damaging Het
Chst13 G A 6: 90,302,063 (GRCm39) R28C possibly damaging Het
Clrn1 A G 3: 58,753,741 (GRCm39) F207L probably damaging Het
Col12a1 T C 9: 79,562,767 (GRCm39) T1772A probably damaging Het
Cubn T C 2: 13,360,491 (GRCm39) T1744A probably benign Het
Dchs2 A G 3: 83,037,218 (GRCm39) E655G probably damaging Het
Dnajb3 T A 1: 88,133,384 (GRCm39) E6V possibly damaging Het
Dock5 G A 14: 68,060,051 (GRCm39) P463S probably benign Het
Eif4a3l1 A G 6: 136,305,596 (GRCm39) K19R probably benign Het
Fancd2 T A 6: 113,555,374 (GRCm39) C1128S probably benign Het
Fcrl5 G A 3: 87,355,634 (GRCm39) G449E probably damaging Het
Frem2 G T 3: 53,493,061 (GRCm39) N1818K possibly damaging Het
Gm21149 C A 5: 15,678,037 (GRCm39) V187L possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gstm7 A G 3: 107,838,142 (GRCm39) probably null Het
Htr1b T A 9: 81,513,810 (GRCm39) I266F probably benign Het
Jakmip3 T C 7: 138,620,900 (GRCm39) I305T probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kifc5b T C 17: 27,140,816 (GRCm39) C97R probably benign Het
Klhl30 A T 1: 91,288,912 (GRCm39) H557L probably damaging Het
Lama3 T C 18: 12,612,813 (GRCm39) V1199A probably benign Het
M6pr T C 6: 122,292,339 (GRCm39) L178P possibly damaging Het
Med17 A G 9: 15,185,879 (GRCm39) S212P probably damaging Het
Med23 T A 10: 24,749,374 (GRCm39) S31T possibly damaging Het
Morc2b T G 17: 33,356,750 (GRCm39) T341P probably damaging Het
Mre11a A G 9: 14,696,805 (GRCm39) M1V probably null Het
Mrpl17 T C 7: 105,459,122 (GRCm39) H158R probably benign Het
Mstn A G 1: 53,105,648 (GRCm39) Q330R probably benign Het
Muc16 T A 9: 18,558,695 (GRCm39) K2533* probably null Het
N4bp2 T C 5: 65,948,344 (GRCm39) S325P possibly damaging Het
Nadk A G 4: 155,673,808 (GRCm39) Y399C possibly damaging Het
Nbea A C 3: 55,998,540 (GRCm39) L89R probably damaging Het
Ncoa1 A G 12: 4,328,181 (GRCm39) F775L probably benign Het
Ndufa11 C A 17: 57,028,331 (GRCm39) A70E probably damaging Het
Nfx1 A G 4: 40,976,851 (GRCm39) Y175C possibly damaging Het
Or10q3 A T 19: 11,848,091 (GRCm39) L163Q probably damaging Het
Or12e9 A G 2: 87,201,909 (GRCm39) N11S probably damaging Het
Pcsk6 T C 7: 65,618,762 (GRCm39) S443P probably damaging Het
Pcsk9 T C 4: 106,304,793 (GRCm39) D425G probably benign Het
Pdcd1lg2 T A 19: 29,414,698 (GRCm39) C42S probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Rbm46 G A 3: 82,771,262 (GRCm39) T451M probably benign Het
Rcan2 T A 17: 44,264,370 (GRCm39) V10D probably benign Het
Rpl7l1 T C 17: 47,093,548 (GRCm39) E4G probably benign Het
Rptn A G 3: 93,304,506 (GRCm39) E613G probably benign Het
Sbk2 T C 7: 4,960,621 (GRCm39) D183G probably damaging Het
Slc15a4 C T 5: 127,693,950 (GRCm39) A162T probably benign Het
Slc30a4 A G 2: 122,527,966 (GRCm39) W315R probably damaging Het
Slc39a14 G C 14: 70,547,262 (GRCm39) F361L probably benign Het
Slc6a13 T C 6: 121,313,801 (GRCm39) Y515H possibly damaging Het
Slitrk3 C A 3: 72,957,247 (GRCm39) K508N possibly damaging Het
Stard4 T C 18: 33,338,278 (GRCm39) D144G probably benign Het
Tlr9 T C 9: 106,102,136 (GRCm39) F476L probably damaging Het
Tshz1 A T 18: 84,031,345 (GRCm39) V1021D probably damaging Het
Vmn1r54 A T 6: 90,246,304 (GRCm39) I73F probably benign Het
Vmn2r19 A C 6: 123,293,112 (GRCm39) S385R possibly damaging Het
Xkr5 A G 8: 18,998,716 (GRCm39) L34P probably damaging Het
Xpo4 A G 14: 57,875,770 (GRCm39) V121A probably damaging Het
Zbtb40 T A 4: 136,712,177 (GRCm39) H268L probably null Het
Zfp865 T C 7: 5,033,065 (GRCm39) F350S probably damaging Het
Zscan4b T C 7: 10,634,828 (GRCm39) I472V possibly damaging Het
Other mutations in Lmbr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01645:Lmbr1 APN 5 29,440,053 (GRCm39) missense probably damaging 1.00
IGL02285:Lmbr1 APN 5 29,459,233 (GRCm39) splice site probably benign
IGL02793:Lmbr1 APN 5 29,497,186 (GRCm39) missense probably damaging 1.00
IGL02875:Lmbr1 APN 5 29,497,186 (GRCm39) missense probably damaging 1.00
IGL03103:Lmbr1 APN 5 29,440,014 (GRCm39) missense probably damaging 0.99
IGL02988:Lmbr1 UTSW 5 29,497,221 (GRCm39) splice site probably null
R0255:Lmbr1 UTSW 5 29,457,753 (GRCm39) missense probably damaging 1.00
R0594:Lmbr1 UTSW 5 29,497,207 (GRCm39) missense possibly damaging 0.87
R0993:Lmbr1 UTSW 5 29,492,391 (GRCm39) missense probably damaging 1.00
R1036:Lmbr1 UTSW 5 29,463,745 (GRCm39) missense probably damaging 1.00
R1570:Lmbr1 UTSW 5 29,459,556 (GRCm39) missense probably damaging 1.00
R1724:Lmbr1 UTSW 5 29,566,081 (GRCm39) missense probably benign 0.03
R2056:Lmbr1 UTSW 5 29,438,092 (GRCm39) missense probably benign 0.07
R2996:Lmbr1 UTSW 5 29,568,931 (GRCm39) missense probably benign 0.29
R4082:Lmbr1 UTSW 5 29,463,753 (GRCm39) missense probably damaging 1.00
R4618:Lmbr1 UTSW 5 29,551,863 (GRCm39) missense probably damaging 1.00
R4842:Lmbr1 UTSW 5 29,492,424 (GRCm39) missense probably damaging 0.97
R4857:Lmbr1 UTSW 5 29,528,807 (GRCm39) missense probably damaging 0.98
R5495:Lmbr1 UTSW 5 29,551,851 (GRCm39) nonsense probably null
R5647:Lmbr1 UTSW 5 29,468,391 (GRCm39) critical splice donor site probably null
R6466:Lmbr1 UTSW 5 29,583,166 (GRCm39) missense probably benign 0.05
R6486:Lmbr1 UTSW 5 29,528,859 (GRCm39) missense probably damaging 0.99
R6576:Lmbr1 UTSW 5 29,496,308 (GRCm39) missense probably damaging 1.00
R6874:Lmbr1 UTSW 5 29,497,904 (GRCm39) missense probably damaging 1.00
R7085:Lmbr1 UTSW 5 29,566,090 (GRCm39) splice site probably null
R7484:Lmbr1 UTSW 5 29,551,850 (GRCm39) start gained probably benign
R7487:Lmbr1 UTSW 5 29,459,262 (GRCm39) missense probably benign 0.38
R8390:Lmbr1 UTSW 5 29,440,040 (GRCm39) missense probably benign 0.00
R9006:Lmbr1 UTSW 5 29,551,900 (GRCm39) missense probably benign 0.03
R9596:Lmbr1 UTSW 5 29,440,105 (GRCm39) nonsense probably null
Z1088:Lmbr1 UTSW 5 29,528,814 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGTCCGCTACTTACAAATACC -3'
(R):5'- GTGGGAGCTGCACTTGAAATC -3'

Sequencing Primer
(F):5'- CTCTCAGCCAAGATGAGCTATTCAGG -3'
(R):5'- GGAGCTGCACTTGAAATCATTCTG -3'
Posted On 2018-05-04