Incidental Mutation 'R7487:Lmbr1'
ID 580239
Institutional Source Beutler Lab
Gene Symbol Lmbr1
Ensembl Gene ENSMUSG00000010721
Gene Name limb region 1
Synonyms 1110048D14Rik, C79130
MMRRC Submission 045561-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7487 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 29434800-29583414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29459262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 379 (K379M)
Ref Sequence ENSEMBL: ENSMUSP00000058405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055195] [ENSMUST00000179191] [ENSMUST00000196321] [ENSMUST00000198105] [ENSMUST00000200564]
AlphaFold Q9JIT0
Predicted Effect probably benign
Transcript: ENSMUST00000055195
AA Change: K379M

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000058405
Gene: ENSMUSG00000010721
AA Change: K379M

DomainStartEndE-ValueType
Pfam:LMBR1 26 281 3.5e-46 PFAM
Pfam:LMBR1 239 445 1.7e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179191
AA Change: K351M

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136160
Gene: ENSMUSG00000010721
AA Change: K351M

DomainStartEndE-ValueType
Pfam:LMBR1 23 108 6e-31 PFAM
Pfam:LMBR1 106 418 5.3e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196321
AA Change: K256M

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143348
Gene: ENSMUSG00000010721
AA Change: K256M

DomainStartEndE-ValueType
Pfam:LMBR1 1 323 4e-106 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000198105
AA Change: K352M

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142755
Gene: ENSMUSG00000010721
AA Change: K352M

DomainStartEndE-ValueType
Pfam:LMBR1 23 107 5.4e-30 PFAM
Pfam:LMBR1 106 419 3.4e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200149
Predicted Effect possibly damaging
Transcript: ENSMUST00000200564
AA Change: K256M

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143316
Gene: ENSMUSG00000010721
AA Change: K256M

DomainStartEndE-ValueType
Pfam:LMBR1 1 310 8.6e-92 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (89/89)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,772,629 (GRCm39) D606V probably damaging Het
1700009N14Rik T A 4: 39,450,929 (GRCm39) V45E probably damaging Het
2510009E07Rik C T 16: 21,472,479 (GRCm39) V74M probably damaging Het
Abca2 C T 2: 25,327,915 (GRCm39) T739M probably benign Het
Abra T C 15: 41,732,949 (GRCm39) E39G probably damaging Het
Adam34 A T 8: 44,104,191 (GRCm39) C485S probably damaging Het
Add2 G T 6: 86,070,432 (GRCm39) V175F possibly damaging Het
Alk T A 17: 72,256,893 (GRCm39) K655N probably benign Het
Ap3m1 A G 14: 21,088,107 (GRCm39) V317A probably benign Het
Astn1 A G 1: 158,438,352 (GRCm39) probably null Het
Atm A T 9: 53,435,654 (GRCm39) Y219N probably benign Het
Cep128 C T 12: 90,966,404 (GRCm39) A1068T probably benign Het
Cep20 T C 16: 14,128,968 (GRCm39) D85G probably benign Het
Cnksr3 T C 10: 7,085,097 (GRCm39) Q250R probably benign Het
Cst7 A G 2: 150,419,624 (GRCm39) T97A probably benign Het
Ctps1 G A 4: 120,415,997 (GRCm39) L209F probably damaging Het
Cyp2d10 A T 15: 82,288,793 (GRCm39) F230I probably benign Het
Daam2 T C 17: 49,793,510 (GRCm39) N336D probably benign Het
Dchs2 T C 3: 83,263,613 (GRCm39) S3294P probably damaging Het
Dhx36 G T 3: 62,391,623 (GRCm39) N574K possibly damaging Het
Dock10 G T 1: 80,562,765 (GRCm39) Q533K probably benign Het
Dync2h1 A G 9: 7,132,041 (GRCm39) S1589P probably benign Het
Enpp3 T A 10: 24,681,821 (GRCm39) Y295F probably benign Het
Esrrg T A 1: 187,878,620 (GRCm39) Y234N probably benign Het
Fadd A C 7: 144,134,462 (GRCm39) V141G probably damaging Het
Fam114a2 C T 11: 57,404,515 (GRCm39) G83D probably damaging Het
Fam170b T A 14: 32,557,776 (GRCm39) C204S probably damaging Het
Fam186a T A 15: 99,840,017 (GRCm39) I2076F possibly damaging Het
Fdxacb1 G A 9: 50,681,519 (GRCm39) V147I possibly damaging Het
Frem2 C A 3: 53,561,970 (GRCm39) V846F probably benign Het
Fry G A 5: 150,338,039 (GRCm39) S1449N possibly damaging Het
Gucy1b2 A G 14: 62,685,672 (GRCm39) F98L probably damaging Het
Hps1 T C 19: 42,744,700 (GRCm39) Y658C probably damaging Het
Igkv3-9 T A 6: 70,565,506 (GRCm39) L35Q probably damaging Het
Irx2 A G 13: 72,778,739 (GRCm39) Y101C probably damaging Het
Kcnj11 G T 7: 45,748,265 (GRCm39) R353S probably benign Het
Kyat3 C T 3: 142,431,955 (GRCm39) Q228* probably null Het
Lama3 T A 18: 12,552,294 (GRCm39) D415E probably benign Het
Lcn3 G A 2: 25,656,174 (GRCm39) probably null Het
Lin7b T C 7: 45,019,364 (GRCm39) E68G possibly damaging Het
Lrig1 A G 6: 94,583,099 (GRCm39) S1006P probably benign Het
Lrrc37a T G 11: 103,389,045 (GRCm39) T2127P unknown Het
Map4 A G 9: 109,856,783 (GRCm39) D151G probably damaging Het
Marchf1 A T 8: 66,908,726 (GRCm39) T149S probably benign Het
Msh4 A T 3: 153,569,147 (GRCm39) F809I probably damaging Het
Muc16 G A 9: 18,496,095 (GRCm39) P6699S possibly damaging Het
Mxi1 A T 19: 53,360,088 (GRCm39) D270V probably damaging Het
Myh6 A T 14: 55,190,953 (GRCm39) C907* probably null Het
Myo18b T C 5: 112,982,299 (GRCm39) R1145G possibly damaging Het
Nkx2-6 A C 14: 69,409,389 (GRCm39) N47H probably benign Het
Nol7 G A 13: 43,552,076 (GRCm39) A66T probably damaging Het
Ntrk3 T C 7: 77,900,461 (GRCm39) N626S probably damaging Het
Nwd1 A G 8: 73,393,266 (GRCm39) Y77C unknown Het
Or12d17 G T 17: 37,777,457 (GRCm39) R120L probably damaging Het
Or12k5 A C 2: 36,894,786 (GRCm39) V280G probably damaging Het
Or8c14-ps1 A G 9: 38,101,356 (GRCm39) S112G probably damaging Het
Or8j3b A T 2: 86,205,475 (GRCm39) Y94N probably damaging Het
Or9s23 G A 1: 92,501,517 (GRCm39) G208D possibly damaging Het
Otop3 A G 11: 115,235,826 (GRCm39) D486G probably benign Het
Pak1ip1 A G 13: 41,162,731 (GRCm39) K178R probably benign Het
Pcsk1 G A 13: 75,259,002 (GRCm39) G259S probably benign Het
Pde6a A G 18: 61,383,031 (GRCm39) D338G probably damaging Het
Pias4 A T 10: 80,999,806 (GRCm39) D82E probably benign Het
Plekha5 C A 6: 140,516,059 (GRCm39) Q771K probably benign Het
Plekhh3 C A 11: 101,056,405 (GRCm39) A397S possibly damaging Het
Prg4 G T 1: 150,331,656 (GRCm39) T339N unknown Het
Prss22 A T 17: 24,216,971 (GRCm39) I3N probably damaging Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rspo2 T C 15: 42,941,510 (GRCm39) T138A probably benign Het
Rtcb C T 10: 85,789,333 (GRCm39) G70S probably benign Het
Selenov A T 7: 27,989,803 (GRCm39) S234T probably damaging Het
Shtn1 T C 19: 58,992,292 (GRCm39) T429A probably damaging Het
Slc4a3 G T 1: 75,530,021 (GRCm39) R622L probably benign Het
Smc2 T C 4: 52,478,448 (GRCm39) I1015T probably damaging Het
Spata9 G T 13: 76,115,959 (GRCm39) V3F possibly damaging Het
Tlr4 T C 4: 66,842,659 (GRCm39) I105T probably benign Het
Trav6d-4 A T 14: 52,991,096 (GRCm39) Y47F possibly damaging Het
Ttn A T 2: 76,657,377 (GRCm39) I12450N unknown Het
Umad1 G T 6: 8,270,560 (GRCm39) A21S probably damaging Het
Unc5a G A 13: 55,144,362 (GRCm39) R229H probably benign Het
Vmn1r216 A T 13: 23,284,030 (GRCm39) M238L probably damaging Het
Vps16 T A 2: 130,280,977 (GRCm39) C255* probably null Het
Wdr89 A G 12: 75,679,388 (GRCm39) F289L probably benign Het
Zfp180 A T 7: 23,805,525 (GRCm39) H648L probably damaging Het
Zfp735 A G 11: 73,581,154 (GRCm39) K64E possibly damaging Het
Zfp990 G A 4: 145,264,157 (GRCm39) C385Y probably damaging Het
Zswim3 G T 2: 164,662,135 (GRCm39) S205I probably 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
R6393:Lmbr1 UTSW 5 29,459,292 (GRCm39) missense probably damaging 1.00
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
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'- CCAAGTGCGTGGTTCTATGC -3'
(R):5'- GTGGGAGCTGCACTTGAAATC -3'

Sequencing Primer
(F):5'- GGATGCAGTCCAATTTACACAG -3'
(R):5'- GGAGCTGCACTTGAAATCATTCTG -3'
Posted On 2019-10-07