Incidental Mutation 'IGL01812:Cd300lf'
ID 154291
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd300lf
Ensembl Gene ENSMUSG00000047798
Gene Name CD300 molecule like family member F
Synonyms IREM1, IgSF13, F730004D16Rik, Pigr3, CLM-1, LMIR3, DIgR2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL01812
Quality Score
Status
Chromosome 11
Chromosomal Location 115007040-115024818 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115011114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 175 (R175G)
Ref Sequence ENSEMBL: ENSMUSP00000102172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051264] [ENSMUST00000067754] [ENSMUST00000106561] [ENSMUST00000106562]
AlphaFold Q6SJQ7
Predicted Effect probably benign
Transcript: ENSMUST00000051264
AA Change: R209G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000053983
Gene: ENSMUSG00000047798
AA Change: R209G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 26 125 2.06e-5 SMART
low complexity region 131 154 N/A INTRINSIC
low complexity region 163 184 N/A INTRINSIC
Pfam:SIT 187 293 1.7e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067754
SMART Domains Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732

DomainStartEndE-ValueType
RAB 23 187 1.27e-89 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106561
AA Change: R216G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102171
Gene: ENSMUSG00000047798
AA Change: R216G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 26 125 2.06e-5 SMART
low complexity region 130 155 N/A INTRINSIC
low complexity region 170 191 N/A INTRINSIC
Pfam:SIT 194 299 3.2e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106562
AA Change: R175G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102172
Gene: ENSMUSG00000047798
AA Change: R175G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 26 125 2.06e-5 SMART
low complexity region 127 150 N/A INTRINSIC
Pfam:SIT 153 259 7.4e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146254
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CD300 protein family. Members of this family are cell surface glycoproteins with a single IgV-like extracellular domain, and are involved in the regulation of immune response. The encoded protein is an inhibitory receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased severity of experimental autoimmune encephalomyelitis with increased demyelination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 A G 7: 80,749,950 (GRCm39) Y1456C probably damaging Het
Apobr A G 7: 126,187,094 (GRCm39) D840G probably damaging Het
Arb2a T A 13: 77,909,966 (GRCm39) L27* probably null Het
Chil5 A G 3: 105,924,468 (GRCm39) S426P possibly damaging Het
Cngb3 T G 4: 19,461,728 (GRCm39) I536M possibly damaging Het
Cracdl T A 1: 37,664,446 (GRCm39) D484V probably benign Het
Cyp4f15 G A 17: 32,905,131 (GRCm39) R38H probably benign Het
Ddb1 A C 19: 10,590,382 (GRCm39) E303A probably damaging Het
Dis3l T A 9: 64,217,519 (GRCm39) E822V probably benign Het
Erich3 T C 3: 154,419,608 (GRCm39) V234A possibly damaging Het
Evi5l T C 8: 4,243,219 (GRCm39) probably null Het
Exoc4 T C 6: 33,734,894 (GRCm39) probably benign Het
Ganc A G 2: 120,242,007 (GRCm39) I62V probably benign Het
Itpkb T C 1: 180,247,851 (GRCm39) F823S probably damaging Het
Izumo2 A G 7: 44,358,519 (GRCm39) N14S possibly damaging Het
Matcap1 C T 8: 106,011,289 (GRCm39) probably benign Het
Nbas T C 12: 13,503,504 (GRCm39) C1545R probably damaging Het
Or4c108 A T 2: 88,803,868 (GRCm39) Y122* probably null Het
Pds5b A T 5: 150,704,154 (GRCm39) R852S probably damaging Het
Polh G A 17: 46,483,837 (GRCm39) A476V probably benign Het
Prune2 T A 19: 16,981,141 (GRCm39) D99E possibly damaging Het
Tdrd6 A G 17: 43,936,065 (GRCm39) V1661A probably benign Het
Tor1aip2 A G 1: 155,935,285 (GRCm39) S7G probably benign Het
Vps13a A G 19: 16,692,424 (GRCm39) V830A probably benign Het
Vps39 G A 2: 120,151,271 (GRCm39) probably benign Het
Zdhhc17 T A 10: 110,784,078 (GRCm39) H466L possibly damaging Het
Other mutations in Cd300lf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Cd300lf APN 11 115,015,159 (GRCm39) missense probably benign 0.34
IGL01364:Cd300lf APN 11 115,017,176 (GRCm39) missense probably benign 0.16
IGL01419:Cd300lf APN 11 115,017,180 (GRCm39) missense probably benign 0.32
IGL03217:Cd300lf APN 11 115,015,117 (GRCm39) missense possibly damaging 0.80
R1889:Cd300lf UTSW 11 115,011,206 (GRCm39) missense probably benign 0.01
R3899:Cd300lf UTSW 11 115,015,177 (GRCm39) missense probably damaging 1.00
R4180:Cd300lf UTSW 11 115,015,089 (GRCm39) missense possibly damaging 0.55
R5362:Cd300lf UTSW 11 115,007,940 (GRCm39) missense probably damaging 1.00
R5865:Cd300lf UTSW 11 115,017,126 (GRCm39) missense probably damaging 0.99
R6267:Cd300lf UTSW 11 115,015,195 (GRCm39) missense probably benign 0.05
R6296:Cd300lf UTSW 11 115,015,195 (GRCm39) missense probably benign 0.05
R8920:Cd300lf UTSW 11 115,017,180 (GRCm39) missense probably benign 0.32
R8946:Cd300lf UTSW 11 115,024,738 (GRCm39) start gained probably benign
R9380:Cd300lf UTSW 11 115,015,153 (GRCm39) missense probably benign 0.09
R9548:Cd300lf UTSW 11 115,007,858 (GRCm39) missense probably benign
Posted On 2014-02-04