Incidental Mutation 'IGL03412:Cd300lb'
ID 421832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd300lb
Ensembl Gene ENSMUSG00000063193
Gene Name CD300 molecule like family member B
Synonyms Clm7, CLM-7, LOC217304, LMIR5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03412
Quality Score
Status
Chromosome 11
Chromosomal Location 114813605-114825197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 114819206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Methionine at position 5 (R5M)
Ref Sequence ENSEMBL: ENSMUSP00000144728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106581] [ENSMUST00000149663]
AlphaFold Q3U497
Predicted Effect possibly damaging
Transcript: ENSMUST00000106581
AA Change: R141M

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102191
Gene: ENSMUSG00000063193
AA Change: R141M

DomainStartEndE-ValueType
IG 21 122 1.17e-4 SMART
transmembrane domain 156 178 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126655
Predicted Effect probably damaging
Transcript: ENSMUST00000149663
AA Change: R5M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144728
Gene: ENSMUSG00000063193
AA Change: R5M

DomainStartEndE-ValueType
Blast:IG 1 32 4e-16 BLAST
transmembrane domain 66 88 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CD300LB is a nonclassical activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells (Martinez-Barriocanal and Sayos, 2006 [PubMed 16920917]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null mutation do not display any gross abnormalities and are protected from ischemia reperfusion induced renal injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,455,390 (GRCm39) R736* probably null Het
Agpat2 T C 2: 26,483,673 (GRCm39) T255A probably benign Het
Akap3 G A 6: 126,841,688 (GRCm39) M102I probably benign Het
Chrna5 A T 9: 54,911,719 (GRCm39) D69V probably damaging Het
Col9a1 G A 1: 24,249,508 (GRCm39) probably null Het
Dnajb12 A T 10: 59,725,895 (GRCm39) H60L probably benign Het
Dnal1 T A 12: 84,182,441 (GRCm39) M1K probably null Het
Exoc7 C T 11: 116,180,101 (GRCm39) V655M possibly damaging Het
Fastkd3 A G 13: 68,731,840 (GRCm39) R54G probably benign Het
Fbln2 G A 6: 91,248,763 (GRCm39) D1143N probably damaging Het
Flii C T 11: 60,613,466 (GRCm39) V174M probably damaging Het
Gtf2h4 T C 17: 35,979,375 (GRCm39) I388M probably damaging Het
Il20rb A G 9: 100,357,049 (GRCm39) V27A probably benign Het
Kidins220 T C 12: 25,049,344 (GRCm39) S320P probably damaging Het
Kif1b T C 4: 149,359,396 (GRCm39) S114G probably benign Het
Lama3 T C 18: 12,552,239 (GRCm39) V397A probably damaging Het
Man2a2 A T 7: 80,016,746 (GRCm39) V356D probably damaging Het
Mcpt9 T G 14: 56,265,484 (GRCm39) T72P probably damaging Het
Mmd T C 11: 90,148,429 (GRCm39) probably null Het
Mroh2b G A 15: 4,973,854 (GRCm39) R1124Q probably benign Het
Mvp T C 7: 126,592,735 (GRCm39) D392G probably damaging Het
Mycbpap T A 11: 94,398,927 (GRCm39) probably null Het
Myh2 A G 11: 67,080,395 (GRCm39) H1203R probably benign Het
Nbeal1 T A 1: 60,281,726 (GRCm39) C816* probably null Het
Or4a70 T A 2: 89,324,555 (GRCm39) I34F probably benign Het
Or5an6 A T 19: 12,371,743 (GRCm39) T39S probably damaging Het
Pcdh12 C T 18: 38,416,568 (GRCm39) V186M probably benign Het
Pik3c2a C T 7: 116,017,074 (GRCm39) E228K probably benign Het
Plcz1 A C 6: 139,961,823 (GRCm39) Y243D probably damaging Het
Rspo3 T A 10: 29,411,270 (GRCm39) I19F possibly damaging Het
Slc2a12 T C 10: 22,540,868 (GRCm39) L241P probably damaging Het
Slc4a10 G A 2: 62,080,887 (GRCm39) probably benign Het
Snai2 A T 16: 14,525,120 (GRCm39) T209S possibly damaging Het
Sorcs2 T C 5: 36,203,848 (GRCm39) D549G probably damaging Het
Srsf12 G A 4: 33,230,929 (GRCm39) R141Q probably damaging Het
Stab1 T G 14: 30,876,364 (GRCm39) E908D probably benign Het
Stat6 A T 10: 127,494,074 (GRCm39) M634L probably benign Het
Tex21 A G 12: 76,291,780 (GRCm39) probably null Het
Tsc2 C A 17: 24,816,042 (GRCm39) R1715L probably damaging Het
Ttll4 A G 1: 74,726,480 (GRCm39) I693V probably benign Het
Vmn1r5 A T 6: 56,962,918 (GRCm39) M198L possibly damaging Het
Vmn1r50 T C 6: 90,085,007 (GRCm39) Y251H probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Wdr3 G T 3: 100,059,293 (GRCm39) T342K probably benign Het
Zbtb44 A G 9: 30,964,763 (GRCm39) T58A probably benign Het
Zeb2 A G 2: 44,892,720 (GRCm39) probably benign Het
Zmym2 C T 14: 57,197,176 (GRCm39) Q1315* probably null Het
Zmym6 T C 4: 126,986,731 (GRCm39) I137T probably damaging Het
Other mutations in Cd300lb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02267:Cd300lb APN 11 114,819,303 (GRCm39) nonsense probably null
R0003:Cd300lb UTSW 11 114,819,164 (GRCm39) missense probably benign 0.12
R0034:Cd300lb UTSW 11 114,819,225 (GRCm39) missense probably damaging 0.99
R1518:Cd300lb UTSW 11 114,816,877 (GRCm39) missense probably benign 0.09
R2109:Cd300lb UTSW 11 114,816,865 (GRCm39) missense probably damaging 0.98
R5296:Cd300lb UTSW 11 114,815,763 (GRCm39) missense possibly damaging 0.73
R7325:Cd300lb UTSW 11 114,815,858 (GRCm39) missense probably damaging 1.00
R7426:Cd300lb UTSW 11 114,819,128 (GRCm39) missense probably damaging 0.99
R7484:Cd300lb UTSW 11 114,819,345 (GRCm39) missense probably damaging 1.00
R9131:Cd300lb UTSW 11 114,819,134 (GRCm39) missense probably damaging 1.00
Z1088:Cd300lb UTSW 11 114,816,860 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02