Incidental Mutation 'IGL03358:Cd300a'
ID420016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd300a
Ensembl Gene ENSMUSG00000034652
Gene NameCD300A molecule
SynonymsMAIR-I, Clm8, Pigr4, B230315M08Rik, LMIR1, MMAC8
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03358
Quality Score
Status
Chromosome11
Chromosomal Location114890041-114904654 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 114897797 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 204 (M204I)
Ref Sequence ENSEMBL: ENSMUSP00000036773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045151] [ENSMUST00000106582]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045151
AA Change: M204I

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036773
Gene: ENSMUSG00000034652
AA Change: M204I

DomainStartEndE-ValueType
low complexity region 10 28 N/A INTRINSIC
IG 31 137 3.49e-3 SMART
transmembrane domain 180 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106582
AA Change: M208I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102192
Gene: ENSMUSG00000034652
AA Change: M208I

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 31 137 3.49e-3 SMART
Pfam:SIT 186 289 1.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153245
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 glycoprotein family of cell surface proteins found on leukocytes involved in immune response signaling pathways. This gene is located on chromosome 17 in a cluster with all but one of the other family members. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to cecal ligation and puncture with increased production of chemoattractants by mast cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik T C 16: 64,766,546 I272V possibly damaging Het
4930590J08Rik A G 6: 91,928,735 N496D probably damaging Het
Adcy2 C T 13: 68,729,277 G448E probably damaging Het
Alad G A 4: 62,510,607 probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Appbp2 A T 11: 85,210,034 M193K probably benign Het
Cep350 T A 1: 155,928,539 M933L probably benign Het
Cyp2s1 T A 7: 25,808,148 N292I probably damaging Het
Ddx58 T C 4: 40,206,069 E841G possibly damaging Het
Gnl2 T C 4: 125,052,594 I536T probably damaging Het
Ift140 C T 17: 25,087,984 R898C probably damaging Het
Oosp2 A T 19: 11,651,569 L56* probably null Het
Pars2 A T 4: 106,653,042 H7L probably benign Het
Pbx4 T C 8: 69,859,111 S59P probably benign Het
Psg20 G T 7: 18,680,966 H332N probably benign Het
Slc6a13 G A 6: 121,334,536 V384I probably benign Het
Spg21 G A 9: 65,480,416 V164I probably benign Het
Tnc A T 4: 64,017,615 C361* probably null Het
Tsr1 T C 11: 74,903,998 V493A probably benign Het
Ube2u A G 4: 100,547,275 probably benign Het
Vav3 G A 3: 109,647,673 G79E probably damaging Het
Vmn1r81 T G 7: 12,260,305 R125S possibly damaging Het
Vmn2r45 A C 7: 8,471,716 L771R probably damaging Het
Vps54 T A 11: 21,268,799 H119Q probably damaging Het
Other mutations in Cd300a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0193:Cd300a UTSW 11 114893376 missense probably benign 0.22
R2926:Cd300a UTSW 11 114893313 missense possibly damaging 0.92
R4913:Cd300a UTSW 11 114893372 nonsense probably null
R4953:Cd300a UTSW 11 114893421 missense probably damaging 0.98
R5253:Cd300a UTSW 11 114894751 missense probably benign
R5341:Cd300a UTSW 11 114893462 missense probably damaging 0.98
R7071:Cd300a UTSW 11 114901273 missense probably damaging 0.98
R7357:Cd300a UTSW 11 114893327 missense probably benign 0.00
R7859:Cd300a UTSW 11 114893339 missense probably benign 0.08
R7942:Cd300a UTSW 11 114893339 missense probably benign 0.08
Posted On2016-08-02