Incidental Mutation 'R2926:Cd300a'
Institutional Source Beutler Lab
Gene Symbol Cd300a
Ensembl Gene ENSMUSG00000034652
Gene NameCD300A molecule
SynonymsMAIR-I, Clm8, Pigr4, B230315M08Rik, LMIR1, MMAC8
MMRRC Submission 040511-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.034) question?
Stock #R2926 (G1)
Quality Score225
Status Validated
Chromosomal Location114890041-114904654 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114893313 bp
Amino Acid Change Glutamic Acid to Glycine at position 49 (E49G)
Ref Sequence ENSEMBL: ENSMUSP00000102192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045151] [ENSMUST00000106582]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045151
AA Change: E49G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036773
Gene: ENSMUSG00000034652
AA Change: E49G

low complexity region 10 28 N/A INTRINSIC
IG 31 137 3.49e-3 SMART
transmembrane domain 180 202 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106582
AA Change: E49G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102192
Gene: ENSMUSG00000034652
AA Change: E49G

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
Meta Mutation Damage Score 0.106 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,078,839 S438R possibly damaging Het
Add3 A G 19: 53,226,822 probably null Het
Adgrb2 T C 4: 130,008,344 L506P probably damaging Het
Atp6v0a1 A T 11: 101,043,948 I621L probably damaging Het
AV320801 G T X: 135,499,548 A96S possibly damaging Het
Calb1 T G 4: 15,904,302 L218R probably damaging Het
Ccdc162 G A 10: 41,561,207 probably benign Het
Ccser2 A T 14: 36,879,561 S842T possibly damaging Het
Colec11 T A 12: 28,617,429 Q37L probably damaging Het
D630045J12Rik T A 6: 38,168,171 I1307F probably damaging Het
Dapk1 T C 13: 60,719,750 V257A possibly damaging Het
Dnah3 T A 7: 119,951,115 N3327I probably damaging Het
Gja8 C T 3: 96,919,153 V398I probably benign Het
Gm4450 A G 3: 98,450,556 probably benign Het
Hfm1 A T 5: 106,874,282 L179* probably null Het
Ift88 T C 14: 57,488,918 Y678H probably damaging Het
Itga10 A G 3: 96,652,849 N560D probably damaging Het
Itpk1 G T 12: 102,579,130 P238Q probably damaging Het
Kl T C 5: 150,953,341 W209R probably damaging Het
Lama4 A G 10: 39,078,832 N1127S probably benign Het
Lrp1 C T 10: 127,588,113 C830Y probably damaging Het
Mcmbp G A 7: 128,698,014 probably benign Het
Mrps33 A G 6: 39,805,504 S28P probably damaging Het
Myo9b G A 8: 71,334,337 R721Q probably benign Het
Myt1 C T 2: 181,826,010 T1079M possibly damaging Het
N4bp1 A T 8: 86,861,796 Y171* probably null Het
Ncln G T 10: 81,488,438 T442K probably benign Het
Nphp4 T C 4: 152,518,139 V390A probably damaging Het
Ntrk2 C A 13: 59,060,284 T648K probably damaging Het
Nwd1 A G 8: 72,667,012 H301R probably damaging Het
Olfr729 A T 14: 50,148,436 V146E probably benign Het
Pcdh12 T C 18: 38,282,390 N561D probably damaging Het
Pcnx T A 12: 81,994,995 S2134T probably damaging Het
Ppp1cc G A 5: 122,174,088 A306T probably benign Het
Prrc2c C T 1: 162,706,127 probably benign Het
Rabggta C T 14: 55,719,290 R319H probably benign Het
Scn10a A C 9: 119,638,701 F791C possibly damaging Het
Stab1 T A 14: 31,161,799 D267V probably damaging Het
Sva A T 6: 42,042,662 Y152F possibly damaging Het
Tgfbrap1 T G 1: 43,075,629 M104L probably damaging Het
Tmed4 T C 11: 6,271,728 T203A probably benign Het
Toe1 C T 4: 116,804,980 A331T possibly damaging Het
Trappc9 G A 15: 73,025,967 R377W probably damaging Het
Trpm7 T C 2: 126,858,409 probably benign Het
Ttll7 C T 3: 146,930,415 R438* probably null Het
Usp11 G T X: 20,717,792 G601W probably damaging Het
Vmn2r112 A G 17: 22,615,003 T551A possibly damaging Het
Vmn2r73 T C 7: 85,871,663 K366E probably benign Het
Vps33a A G 5: 123,569,571 I111T possibly damaging Het
Other mutations in Cd300a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03358:Cd300a APN 11 114897797 missense possibly damaging 0.67
R0193:Cd300a UTSW 11 114893376 missense probably benign 0.22
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-12-29