Incidental Mutation 'R9548:Cd300lf'
ID 720258
Institutional Source Beutler Lab
Gene Symbol Cd300lf
Ensembl Gene ENSMUSG00000047798
Gene Name CD300 molecule like family member F
Synonyms IREM1, IgSF13, F730004D16Rik, Pigr3, CLM-1, LMIR3, DIgR2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R9548 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 115007040-115024818 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115007858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 319 (E319G)
Ref Sequence ENSEMBL: ENSMUSP00000102171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051264] [ENSMUST00000067754] [ENSMUST00000106561] [ENSMUST00000106562]
AlphaFold Q6SJQ7
Predicted Effect probably benign
Transcript: ENSMUST00000051264
AA Change: E312G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053983
Gene: ENSMUSG00000047798
AA Change: E312G

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 benign
Transcript: ENSMUST00000106561
AA Change: E319G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102171
Gene: ENSMUSG00000047798
AA Change: E319G

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 benign
Transcript: ENSMUST00000106562
AA Change: E278G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102172
Gene: ENSMUSG00000047798
AA Change: E278G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfy1 G A 11: 72,641,005 (GRCm39) probably null Het
Arid1b A G 17: 5,385,262 (GRCm39) Y1340C probably damaging Het
Bcl2 C A 1: 106,640,508 (GRCm39) A35S probably benign Het
Brf2 A T 8: 27,614,623 (GRCm39) S188T probably benign Het
Carmil1 C A 13: 24,460,516 (GRCm39) G21V probably damaging Het
Cavin4 T C 4: 48,663,956 (GRCm39) V112A probably benign Het
Cd44 A T 2: 102,661,832 (GRCm39) D587E possibly damaging Het
Cfap53 A T 18: 74,438,040 (GRCm39) T239S possibly damaging Het
Cma2 A C 14: 56,211,256 (GRCm39) I239L probably damaging Het
Cnot1 A T 8: 96,482,854 (GRCm39) M733K probably benign Het
Cyp2f2 A G 7: 26,829,170 (GRCm39) D225G probably benign Het
Cyp4f40 G A 17: 32,890,158 (GRCm39) R276H probably benign Het
Cytip A T 2: 58,041,141 (GRCm39) F88L probably damaging Het
Dnaaf2 T C 12: 69,244,776 (GRCm39) N95S probably damaging Het
Dnah5 C A 15: 28,328,025 (GRCm39) T2133K possibly damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Elapor2 G A 5: 9,490,859 (GRCm39) G623D probably damaging Het
Epn2 A T 11: 61,436,988 (GRCm39) S195T probably benign Het
Exoc3 A T 13: 74,330,285 (GRCm39) Y521N possibly damaging Het
Fbxo10 C A 4: 45,058,970 (GRCm39) V256L probably damaging Het
Fis1 A T 5: 136,991,907 (GRCm39) T34S probably benign Het
Gm10309 A T 17: 86,806,161 (GRCm39) C118S unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Hook1 T A 4: 95,891,808 (GRCm39) V340E probably damaging Het
Ifng C A 10: 118,277,128 (GRCm39) H23Q probably benign Het
Lect2 C T 13: 56,694,660 (GRCm39) E32K probably benign Het
Lrp1 T G 10: 127,388,733 (GRCm39) T3239P probably damaging Het
Lrrc14b T A 13: 74,511,996 (GRCm39) Y28F probably benign Het
Maml3 A T 3: 51,763,791 (GRCm39) V391E possibly damaging Het
Map3k8 C T 18: 4,349,141 (GRCm39) R59H probably benign Het
Med1 G T 11: 98,070,884 (GRCm39) L120I possibly damaging Het
Muc5b C A 7: 141,421,648 (GRCm39) H4349N possibly damaging Het
Myo1h C T 5: 114,499,154 (GRCm39) P110S probably benign Het
Nol10 T G 12: 17,466,144 (GRCm39) I513S possibly damaging Het
Nphs1 C T 7: 30,180,875 (GRCm39) S1093F probably benign Het
Or12e10 A T 2: 87,641,097 (GRCm39) N311I probably damaging Het
Or4b1b T C 2: 90,111,991 (GRCm39) *309W probably null Het
Or56b1b A T 7: 108,164,334 (GRCm39) S223T possibly damaging Het
Or5p72 A T 7: 108,022,416 (GRCm39) T213S possibly damaging Het
Or5w8 A T 2: 87,688,040 (GRCm39) I174F probably damaging Het
Pcdh17 A T 14: 84,685,402 (GRCm39) Y623F possibly damaging Het
Pdzd8 T A 19: 59,289,826 (GRCm39) I525F probably benign Het
Peak1 G T 9: 56,113,917 (GRCm39) Q1675K probably benign Het
Perm1 T C 4: 156,302,290 (GRCm39) V278A probably benign Het
Ppp2r5d G A 17: 46,998,527 (GRCm39) R115C probably damaging Het
Rnf169 A T 7: 99,574,690 (GRCm39) L635Q probably damaging Het
Sacs A G 14: 61,440,692 (GRCm39) T913A probably benign Het
Sh3bp1 A T 15: 78,788,673 (GRCm39) I233F possibly damaging Het
Skint9 T G 4: 112,276,346 (GRCm39) L8F probably benign Het
Slc1a4 A T 11: 20,258,041 (GRCm39) N360K probably damaging Het
Slc22a16 T A 10: 40,460,865 (GRCm39) Y243* probably null Het
Slc22a19 C A 19: 7,659,219 (GRCm39) probably null Het
Smarcal1 T C 1: 72,671,999 (GRCm39) I840T possibly damaging Het
Spata13 A G 14: 60,991,303 (GRCm39) K1019E possibly damaging Het
Steap1 A G 5: 5,790,700 (GRCm39) S83P possibly damaging Het
Synj2bp T C 12: 81,551,382 (GRCm39) H78R probably damaging Het
Tcstv7a T A 13: 120,289,924 (GRCm39) I91F probably benign Het
Tjp3 T C 10: 81,113,833 (GRCm39) E475G probably damaging Het
Top3a A G 11: 60,644,768 (GRCm39) V312A probably benign Het
Traip C A 9: 107,833,099 (GRCm39) T45N probably damaging Het
Ttn T C 2: 76,573,691 (GRCm39) Y25734C probably damaging Het
Unc79 T A 12: 102,977,495 (GRCm39) V166D probably damaging Het
Urgcp C A 11: 5,667,622 (GRCm39) V282F possibly damaging Het
Vmn1r184 G A 7: 25,966,734 (GRCm39) S160N probably benign Het
Wdfy3 T C 5: 102,033,059 (GRCm39) D2231G probably damaging Het
Zan C T 5: 137,401,323 (GRCm39) G4132D unknown 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
IGL01812:Cd300lf APN 11 115,011,114 (GRCm39) missense probably damaging 0.98
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
Predicted Primers PCR Primer
(F):5'- AGCTGATGGCCATGAGAGAC -3'
(R):5'- TATTTGGGGTTCCTACCAGAATGG -3'

Sequencing Primer
(F):5'- CGGATGGACAGAGTTCCAGTCAC -3'
(R):5'- TTGTCTCACTGGGTGGCCAC -3'
Posted On 2022-07-18